#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
SACS	26278	broad.mit.edu	37	13	23905822	23905822	+	Missense_Mutation	SNP	T	T	A	rs199563625		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:23905822T>A	ENST00000382292.3	-	9	12466	c.12193A>T	c.(12193-12195)Att>Ttt	p.I4065F	SACS_ENST00000382298.3_Missense_Mutation_p.I4065F|SACS_ENST00000402364.1_Missense_Mutation_p.I3315F			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4065					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGTGGGGAATAGGATTAAAA	0.348																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12193-12195)Att>Ttt		spastic ataxia of Charlevoix-Saguenay (sacsin)							58.0	57.0	57.0					13																	23905822		2203	4300	6503	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905822T>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12193A>T	13.37:g.23905822T>A	ENSP00000371729:p.Ile4065Phe					SACS_ENST00000382292.3_Missense_Mutation_p.I4065F|SACS_ENST00000402364.1_Missense_Mutation_p.I3315F	p.I4065F	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12781	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4065					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12193A>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202858	0.79127	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.90197	-2.48;-2.63;-2.48	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.90198	0.6936	L	0.27053	0.805	0.58432	D	0.999999	D	0.67145	0.996	P	0.56612	0.802	D	0.91790	0.5443	10	0.87932	D	0	.	15.2546	0.73576	0.0:0.0:0.0:1.0	.	4065	Q9NZJ4	SACS_HUMAN	F	4065;3315;4065	ENSP00000371729:I4065F;ENSP00000385844:I3315F;ENSP00000371735:I4065F	ENSP00000371729:I4065F	I	-	1	0	SACS	22803822	1.000000	0.71417	0.944000	0.38274	0.942000	0.58702	7.974000	0.88039	1.992000	0.58205	0.533000	0.62120	ATT		0.348	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		18	24	0	0	0	1	0	18	24				
ARID3A	1820	broad.mit.edu	37	19	964396	964396	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:964396G>A	ENST00000263620.3	+	5	1242	c.915G>A	c.(913-915)acG>acA	p.T305T		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	305	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.					cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|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)		ACCTGCCCACGTCCATCACCA	0.632																																					Pancreas(29;54 1022 32760 50921)	ENST00000263620.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10						c.(913-915)acG>acA		AT rich interactive domain 3A (BRIGHT-like)							138.0	96.0	110.0					19																	964396		2203	4300	6503	SO:0001819	synonymous_variant	1820					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:964396G>A	U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.915G>A	19.37:g.964396G>A							p.T305T	NM_005224.2	NP_005215.1	Q99856	ARI3A_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)	5	1242	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	305			ARID.		Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	ENST00000263620.3	37	c.915G>A	CCDS12050.1																																																																																				0.632	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458219.1	NM_005224		14	11	0	0	0	1	0	14	11				
FRG1B	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	40								p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I40T(4)	prostate(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(118-120)aTc>aCc																																						SO:0001583	missense	284802							g.chr20:29625875T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.119T>C	20.37:g.29625875T>C	ENSP00000278882:p.Ile40Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T|FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T	p.I40T							5	499	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.119T>C		.	.	.	.	.	.	.	.	.	.	t	10.51	1.369778	0.24771	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.51071	0.72	1.68	1.68	0.24146	.	0.052751	0.64402	D	0.000001	T	0.59865	0.2225	.	.	.	0.51482	D	0.999924	P	0.49862	0.929	D	0.64687	0.928	T	0.59386	-0.7464	9	0.52906	T	0.07	.	7.3757	0.26827	0.0:0.0:0.0:1.0	.	45	F5H5R5	.	T	40;45;40	ENSP00000408863:I45T	ENSP00000278882:I40T	I	+	2	0	FRG1B	28239536	1.000000	0.71417	0.982000	0.44146	0.025000	0.11179	6.565000	0.73974	1.028000	0.39785	0.155000	0.16302	ATC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	72	0	0	0	1	0	4	72				
DSCAM	1826	broad.mit.edu	37	21	41447099	41447099	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr21:41447099C>A	ENST00000400454.1	-	27	5230	c.4753G>T	c.(4753-4755)Gaa>Taa	p.E1585*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1585					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTCAGCCCTTCTTCGTTTTGG	0.527																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(4753-4755)Gaa>Taa		Down syndrome cell adhesion molecule							127.0	125.0	126.0					21																	41447099		2049	4196	6245	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41447099C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4753G>T	21.37:g.41447099C>A	ENSP00000383303:p.Glu1585*						p.E1585*	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			27	5230	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1585					O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.4753G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	44	10.781184	0.99466	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.69	5.69	0.88448	.	0.169382	0.52532	D	0.000076	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	19.812	0.96551	0.0:1.0:0.0:0.0	.	.	.	.	X	1585;1337	.	ENSP00000383303:E1585X	E	-	1	0	DSCAM	40368969	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	7.364000	0.79526	2.685000	0.91497	0.655000	0.94253	GAA		0.527	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		15	45	1	0	0.000422831	1	0.000432959	15	45				
ZSCAN4	201516	broad.mit.edu	37	19	58187875	58187875	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:58187875A>T	ENST00000318203.5	+	3	1059	c.362A>T	c.(361-363)gAc>gTc	p.D121V		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	121	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCATAGAAGACCTGACTGAT	0.428																																						ENST00000318203.5																			0				endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30						c.(361-363)gAc>gTc		zinc finger and SCAN domain containing 4							84.0	81.0	82.0					19																	58187875		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58187875A>T	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.362A>T	19.37:g.58187875A>T	ENSP00000321963:p.Asp121Val						p.D121V	NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1059	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	121			SCAN box.		Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.362A>T	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324097	0.41096	.	.	ENSG00000180532	ENST00000318203	T	0.07327	3.2	4.42	-0.229	0.13094	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (2);	1.691660	0.03263	N	0.183565	T	0.18882	0.0453	M	0.92604	3.325	0.09310	N	0.999999	B	0.22276	0.067	B	0.30716	0.119	T	0.44697	-0.9311	10	0.72032	D	0.01	-2.9342	0.7863	0.01049	0.4886:0.1665:0.1845:0.1605	.	121	Q8NAM6	ZSCA4_HUMAN	V	121	ENSP00000321963:D121V	ENSP00000321963:D121V	D	+	2	0	ZSCAN4	62879687	0.084000	0.21492	0.005000	0.12908	0.003000	0.03518	1.655000	0.37345	-0.143000	0.11334	-0.290000	0.09829	GAC		0.428	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		21	50	0	0	0	1	0	21	50				
EZH1	2145	broad.mit.edu	37	17	40870501	40870501	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:40870501C>T	ENST00000428826.2	-	9	1023	c.902G>A	c.(901-903)cGc>cAc	p.R301H	EZH1_ENST00000585893.1_Missense_Mutation_p.R261H|EZH1_ENST00000415827.2_Missense_Mutation_p.R292H|EZH1_ENST00000435174.1_Missense_Mutation_p.R162H|EZH1_ENST00000590078.1_Missense_Mutation_p.R231H|EZH1_ENST00000592743.1_Missense_Mutation_p.R301H			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	301					anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TTTAAAGCAGCGCCGGCAAAA	0.532																																						ENST00000428826.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27						c.(901-903)cGc>cAc		enhancer of zeste homolog 1 (Drosophila)							82.0	76.0	78.0					17																	40870501		2203	4300	6503	SO:0001583	missense	2145				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding	g.chr17:40870501C>T		CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.902G>A	17.37:g.40870501C>T	ENSP00000404658:p.Arg301His					EZH1_ENST00000585893.1_Missense_Mutation_p.R261H|EZH1_ENST00000592743.1_Missense_Mutation_p.R301H|EZH1_ENST00000415827.2_Missense_Mutation_p.R292H|EZH1_ENST00000590078.1_Missense_Mutation_p.R231H|EZH1_ENST00000435174.1_Missense_Mutation_p.R162H	p.R301H			Q92800	EZH1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.0784)	9	1023	-		Breast(137;0.00104)	301					A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Missense_Mutation	SNP	ENST00000428826.2	37	c.902G>A	CCDS32659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463442	0.96257	.	.	ENSG00000108799	ENST00000264646;ENST00000428826;ENST00000415827;ENST00000435174	T;T	0.79940	-1.32;-1.32	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	D	0.91068	0.7189	M	0.86420	2.815	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.988;0.997;0.994;0.993	D	0.92576	0.6070	10	0.87932	D	0	.	18.2284	0.89926	0.0:1.0:0.0:0.0	.	162;261;307;301	Q92800-5;Q92800-3;Q92800-2;Q92800	.;.;.;EZH1_HUMAN	H	304;301;261;162	ENSP00000404658:R301H;ENSP00000404071:R162H	ENSP00000264646:R304H	R	-	2	0	EZH1	38124027	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.588000	0.82629	2.605000	0.88082	0.655000	0.94253	CGC		0.532	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452347.1	NM_001991		11	53	0	0	0	1	0	11	53				
TANGO6	79613	broad.mit.edu	37	16	69056866	69056866	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:69056866G>A	ENST00000261778.1	+	16	2990	c.2978G>A	c.(2977-2979)gGc>gAc	p.G993D		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	993						integral component of membrane (GO:0016021)											TTTCTGCTGGGCTCCGTGGTC	0.537																																						ENST00000261778.1																			0											c.(2977-2979)gGc>gAc		transport and golgi organization 6 homolog (Drosophila)							47.0	48.0	48.0					16																	69056866		1966	4162	6128	SO:0001583	missense	79613							g.chr16:69056866G>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.2978G>A	16.37:g.69056866G>A	ENSP00000261778:p.Gly993Asp						p.G993D	NM_024562.1	NP_078838.1					16	2990	+								Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.2978G>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	G	14.06	2.423382	0.43020	.	.	ENSG00000103047	ENST00000261778	T	0.64260	-0.09	4.31	4.31	0.51392	Armadillo-like helical (1);Armadillo-type fold (1);	0.113382	0.64402	D	0.000012	T	0.67998	0.2953	L	0.43554	1.36	0.80722	D	1	D	0.69078	0.997	P	0.59643	0.861	T	0.66296	-0.5959	10	0.30854	T	0.27	-12.6159	15.5731	0.76354	0.0:0.0:1.0:0.0	.	993	Q9C0B7	TMCO7_HUMAN	D	993	ENSP00000261778:G993D	ENSP00000261778:G993D	G	+	2	0	TMCO7	67614367	1.000000	0.71417	0.994000	0.49952	0.542000	0.35054	7.439000	0.80444	1.943000	0.56356	0.442000	0.29010	GGC		0.537	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2		4	15	0	0	0	1	0	4	15				
MAPK11	5600	broad.mit.edu	37	22	50705586	50705586	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:50705586G>A	ENST00000330651.6	-	6	565	c.465C>T	c.(463-465)aaC>aaT	p.N155N	MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Silent_p.N47N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	155	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of muscle cell differentiation (GO:0051149)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Regorafenib(DB08896)	TCACAGCCACGTTGCTGGGCT	0.697																																					GBM(9;634 739 50668)	ENST00000330651.6																			0				breast(1)|central_nervous_system(1)|lung(4)	6						c.(463-465)aaC>aaT		mitogen-activated protein kinase 11							35.0	35.0	35.0					22																	50705586		2199	4295	6494	SO:0001819	synonymous_variant	5600				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding	g.chr22:50705586G>A	Y14440	CCDS14090.1	22q13.33	2011-06-09			ENSG00000185386	ENSG00000185386	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6873	protein-coding gene	gene with protein product		602898		PRKM11		9218798	Standard	NM_002751		Approved	p38-2, p38Beta, SAPK2	uc003bkr.3	Q15759	OTTHUMG00000150226	ENST00000330651.6:c.465C>T	22.37:g.50705586G>A						MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Silent_p.N47N	p.N155N	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	6	565	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	155			Protein kinase.		A8K730|B0LPG1|B7Z630|E7ETQ1|L7RT27|O00284|O15472|Q2XNF2	Silent	SNP	ENST00000330651.6	37	c.465C>T	CCDS14090.1																																																																																				0.697	MAPK11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316900.1			3	32	0	0	0	1	0	3	32				
ZDHHC11	79844	broad.mit.edu	37	5	840588	840588	+	Intron	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:840588G>A	ENST00000283441.8	-	5	1168				ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000511539.1_Missense_Mutation_p.P56L	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GGGGGATCGGGGGCTTAGGGT	0.592																																						ENST00000511539.1																			0				haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21						c.(166-168)cCc>cTc		zinc finger, DHHC-type containing 11							54.0	53.0	54.0					5																	840588		2203	4300	6503	SO:0001627	intron_variant	79844					integral to membrane	acyltransferase activity|zinc ion binding	g.chr5:840588G>A	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.784+21C>T	5.37:g.840588G>A						ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000283441.8_Intron|ZDHHC11_ENST00000503758.2_Intron	p.P56L			Q9H8X9	ZDH11_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)		2	271	-			0					Q6UWR9	Missense_Mutation	SNP	ENST00000283441.8	37	c.167C>T	CCDS3857.1	.	.	.	.	.	.	.	.	.	.	g	12.67	2.007399	0.35415	.	.	ENSG00000188818	ENST00000511539	T	0.58506	0.33	2.74	-0.208	0.13185	.	.	.	.	.	T	0.37489	0.1005	.	.	.	0.09310	N	0.999998	P	0.41393	0.748	B	0.36959	0.237	T	0.16012	-1.0417	8	0.32370	T	0.25	.	5.099	0.14749	0.4813:0.0:0.5187:0.0	.	56	Q6UWR9	.	L	56	ENSP00000427067:P56L	ENSP00000427067:P56L	P	-	2	0	ZDHHC11	893588	0.027000	0.19231	0.001000	0.08648	0.279000	0.26890	0.410000	0.21098	-0.072000	0.12864	0.400000	0.26472	CCC		0.592	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206681.3	NM_024786		21	172	0	0	0	1	0	21	172				
KDM3B	51780	broad.mit.edu	37	5	137753297	137753297	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:137753297C>A	ENST00000314358.5	+	13	3633	c.3433C>A	c.(3433-3435)Cag>Aag	p.Q1145K	KDM3B_ENST00000394866.1_Missense_Mutation_p.Q801K|KDM3B_ENST00000542866.1_Missense_Mutation_p.Q177K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1145					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGGGATGTCACAGGTAAACTG	0.463																																						ENST00000314358.5																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3433-3435)Cag>Aag		lysine (K)-specific demethylase 3B							136.0	119.0	125.0					5																	137753297		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137753297C>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3433C>A	5.37:g.137753297C>A	ENSP00000326563:p.Gln1145Lys					KDM3B_ENST00000394866.1_Missense_Mutation_p.Q801K|KDM3B_ENST00000542866.1_Missense_Mutation_p.Q177K	p.Q1145K	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN			13	3633	+			1145					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3433C>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	34	5.346371	0.95807	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.75050	-0.35;-0.9;-0.68	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.85452	0.5700	M	0.67700	2.07	0.80722	D	1	D;D	0.61080	0.989;0.959	D;P	0.70487	0.969;0.766	D	0.85626	0.1267	10	0.56958	D	0.05	-16.9962	19.4922	0.95054	0.0:1.0:0.0:0.0	.	801;1145	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	K	1145;935;801;177	ENSP00000326563:Q1145K;ENSP00000378335:Q801K;ENSP00000439462:Q177K	ENSP00000326563:Q1145K	Q	+	1	0	KDM3B	137781196	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.818000	0.86416	2.603000	0.88011	0.563000	0.77884	CAG		0.463	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		20	71	1	0	3.51602e-12	1	4.09006e-12	20	71				
AKAP9	10142	broad.mit.edu	37	7	91672001	91672001	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:91672001G>T	ENST00000359028.2	+	21	5339	c.5114G>T	c.(5113-5115)gGa>gTa	p.G1705V	AKAP9_ENST00000358100.2_Missense_Mutation_p.G1705V|AKAP9_ENST00000356239.3_Missense_Mutation_p.G1693V			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1705					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAAACCAAGGAGAAGTTGAA	0.343			T	BRAF	papillary thyroid																																	ENST00000359028.2				Dom	yes		7	7q21-q22	10142	T	A kinase (PRKA) anchor protein (yotiao) 9			E	BRAF		papillary thyroid		0				NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155						c.(5113-5115)gGa>gTa		A kinase (PRKA) anchor protein 9							84.0	92.0	89.0					7																	91672001		2203	4296	6499	SO:0001583	missense	10142				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	g.chr7:91672001G>T	AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.5114G>T	7.37:g.91672001G>T	ENSP00000351922:p.Gly1705Val					AKAP9_ENST00000358100.2_Missense_Mutation_p.G1705V|AKAP9_ENST00000356239.3_Missense_Mutation_p.G1693V	p.G1705V			Q99996	AKAP9_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		21	5339	+	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		1705					A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	ENST00000359028.2	37	c.5114G>T		.	.	.	.	.	.	.	.	.	.	G	0.010	-1.748018	0.00669	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120	T;T;T	0.03094	4.05;4.05;4.05	4.96	-2.15	0.07102	.	1.277870	0.05844	N	0.619954	T	0.03011	0.0089	L	0.40543	1.245	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.002	T	0.48246	-0.9052	10	0.22706	T	0.39	.	1.0016	0.01478	0.3614:0.2815:0.215:0.1421	.	1705;1693;1693	Q99996;Q99996-2;Q99996-3	AKAP9_HUMAN;.;.	V	1693;1705;1705;1705	ENSP00000348573:G1693V;ENSP00000351922:G1705V;ENSP00000350813:G1705V	ENSP00000348573:G1693V	G	+	2	0	AKAP9	91509937	0.000000	0.05858	0.111000	0.21465	0.033000	0.12548	0.007000	0.13174	-0.378000	0.07918	-1.078000	0.02229	GGA		0.343	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		24	30	1	0	1.85244e-09	1	2.084e-09	24	30				
KRTAP5-1	387264	broad.mit.edu	37	11	1606142	1606142	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:1606142C>A	ENST00000382171.2	-	1	371	c.338G>T	c.(337-339)gGg>gTg	p.G113V	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	113	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CTTGGATCCCCCACAAGAGCC	0.662																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(337-339)gGg>gTg		keratin associated protein 5-1							31.0	44.0	40.0					11																	1606142		2060	4046	6106	SO:0001583	missense	387264					keratin filament		g.chr11:1606142C>A	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.338G>T	11.37:g.1606142C>A	ENSP00000371606:p.Gly113Val					KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	p.G113V	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	371	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	113			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.338G>T	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.397021	0.00198	.	.	ENSG00000205869	ENST00000382171	T	0.06449	3.3	2.38	1.4	0.22301	.	.	.	.	.	T	0.16471	0.0396	M	0.69823	2.125	0.32025	N	0.600345	D	0.71674	0.998	P	0.60682	0.878	T	0.10567	-1.0624	9	0.33141	T	0.24	.	8.7348	0.34521	0.0:0.7628:0.2372:0.0	.	113	Q6L8H4	KRA51_HUMAN	V	113	ENSP00000371606:G113V	ENSP00000371606:G113V	G	-	2	0	KRTAP5-1	1562718	0.002000	0.14202	0.006000	0.13384	0.001000	0.01503	0.568000	0.23623	0.126000	0.18424	-0.857000	0.03018	GGG		0.662	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		32	144	1	0	1.04352e-10	1	1.19759e-10	32	144				
NECAB3	63941	broad.mit.edu	37	20	32246615	32246615	+	Missense_Mutation	SNP	A	A	C	rs201103253		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:32246615A>C	ENST00000246190.6	-	9	960	c.905T>G	c.(904-906)gTc>gGc	p.V302G	NECAB3_ENST00000606525.1_5'UTR|RP1-63M2.6_ENST00000607224.1_RNA|NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN	N-terminal EF-hand calcium binding protein 3	302	ABM.				protein metabolic process (GO:0019538)|protein secretion (GO:0009306)|regulation of amyloid precursor protein biosynthetic process (GO:0042984)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|Golgi cis cisterna (GO:0000137)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.V302G(1)		large_intestine(3)|lung(5)|skin(2)	10						TGCCACCTGGACCTGCCTCTG	0.672																																						ENST00000246190.6																			1	Substitution - Missense(1)	p.V302G(1)	lung(1)	large_intestine(3)|lung(5)|skin(2)	10						c.(904-906)gTc>gGc		N-terminal EF-hand calcium binding protein 3																																				SO:0001583	missense	63941				antibiotic biosynthetic process|protein metabolic process|protein secretion|regulation of amyloid precursor protein biosynthetic process	endoplasmic reticulum membrane|Golgi cis cisterna|nucleus	calcium ion binding|oxidoreductase activity|protein binding	g.chr20:32246615A>C	AB039947	CCDS42866.1, CCDS42867.1	20q11.21	2013-01-10	2007-12-06	2007-12-06	ENSG00000125967	ENSG00000125967		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	15851	protein-coding gene	gene with protein product	"""EF-hand calcium binding protein 3"""	612478	"""amyloid beta (A4) precursor protein-binding, family A, member 2 binding protein"""	SYTIP2, APBA2BP		10833507	Standard	NM_031232		Approved	XB51, dJ63M2.4, NIP1, dJ63M2.5, EFCBP3	uc002wzn.4	Q96P71	OTTHUMG00000032264	ENST00000246190.6:c.905T>G	20.37:g.32246615A>C	ENSP00000246190:p.Val302Gly					NECAB3_ENST00000606525.1_5'UTR|NECAB3_ENST00000375238.4_Missense_Mutation_p.V268G	p.V302G	NM_031232.3	NP_112509.3	Q96P71	NECA3_HUMAN			9	960	-			302					A8K780|E1P5N2|Q5JWF5|Q5JWF6|Q5JWF7|Q86VV1|Q9H433|Q9H8G8|Q9HBW7|Q9HCQ9	Missense_Mutation	SNP	ENST00000246190.6	37	c.905T>G	CCDS42866.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.074283	0.76415	.	.	ENSG00000125967	ENST00000375238;ENST00000246190;ENST00000439478	T;T;T	0.32753	1.48;1.48;1.44	4.89	4.89	0.63831	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.211497	0.40728	N	0.001038	T	0.40473	0.1118	L	0.44542	1.39	0.58432	D	0.999998	D;D;P	0.53619	0.961;0.961;0.584	P;P;B	0.54590	0.756;0.756;0.398	T	0.32079	-0.9920	10	0.87932	D	0	-53.2256	13.4869	0.61371	1.0:0.0:0.0:0.0	.	179;302;268	E1P5N3;Q96P71;Q96P71-2	.;NECA3_HUMAN;.	G	268;302;250	ENSP00000364386:V268G;ENSP00000246190:V302G;ENSP00000392064:V250G	ENSP00000246190:V302G	V	-	2	0	NECAB3	31710276	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	5.834000	0.69361	1.841000	0.53522	0.379000	0.24179	GTC		0.672	NECAB3-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078724.2			6	13	0	0	0	1	0	6	13				
CUL9	23113	broad.mit.edu	37	6	43182962	43182962	+	Missense_Mutation	SNP	G	G	A	rs377066349		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:43182962G>A	ENST00000252050.4	+	30	5918	c.5834G>A	c.(5833-5835)cGg>cAg	p.R1945Q	RP3-330M21.5_ENST00000500590.1_RNA|CUL9_ENST00000372647.2_Missense_Mutation_p.R1917Q|CUL9_ENST00000354495.3_Missense_Mutation_p.R1835Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1945					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CGTGATGACCGGCCCCAGATC	0.622																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(5833-5835)cGg>cAg		cullin 9		G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	84.0	80.0	82.0		5834	1.3	0.9	6		82	0,8600		0,0,4300	no	missense	CUL9	NM_015089.2	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1945/2518	43182962	1,13005	2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43182962G>A	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5834G>A	6.37:g.43182962G>A	ENSP00000252050:p.Arg1945Gln					CUL9_ENST00000354495.3_Missense_Mutation_p.R1835Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R1917Q|RP3-330M21.5_ENST00000500590.1_RNA	p.R1945Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			30	5918	+			1945					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.5834G>A	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.758683	0.49468	2.27E-4	0.0	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.73789	-0.78;-0.78;-0.74	5.2	1.31	0.21738	Cullin protein, neddylation domain (1);Cullin, conserved site (1);	0.696409	0.14923	N	0.290553	T	0.42131	0.1189	L	0.31578	0.945	0.32952	D	0.519915	B;B;B	0.20261	0.043;0.007;0.007	B;B;B	0.18263	0.021;0.002;0.002	T	0.07597	-1.0764	10	0.44086	T	0.13	-12.6699	9.1272	0.36824	0.3073:0.0:0.6927:0.0	.	1835;1917;1945	Q8IWT3-3;E9PEZ1;Q8IWT3	.;.;CUL9_HUMAN	Q	1945;1835;1917	ENSP00000252050:R1945Q;ENSP00000346490:R1835Q;ENSP00000361730:R1917Q	ENSP00000252050:R1945Q	R	+	2	0	CUL9	43290940	1.000000	0.71417	0.933000	0.37362	0.967000	0.64934	1.144000	0.31565	0.184000	0.20083	-0.221000	0.12465	CGG		0.622	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		4	113	0	0	0	1	0	4	113				
CEP112	201134	broad.mit.edu	37	17	64128831	64128831	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:64128831G>A	ENST00000392769.2	-	5	739	c.521C>T	c.(520-522)cCa>cTa	p.P174L	CEP112_ENST00000535342.2_Missense_Mutation_p.P174L|CEP112_ENST00000537949.1_Missense_Mutation_p.P174L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	174					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TCTGTGAGTTGGACTCAAGGA	0.383																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(520-522)cCa>cTa		centrosomal protein 112kDa							108.0	100.0	103.0					17																	64128831		2203	4300	6503	SO:0001583	missense	201134					centrosome		g.chr17:64128831G>A	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.521C>T	17.37:g.64128831G>A	ENSP00000376522:p.Pro174Leu					CEP112_ENST00000535342.2_Missense_Mutation_p.P174L|CEP112_ENST00000537949.1_Missense_Mutation_p.P174L	p.P174L	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			5	739	-			174					Q6PIB5|Q8NCR4|Q8NFR4	Missense_Mutation	SNP	ENST00000392769.2	37	c.521C>T	CCDS32710.1	.	.	.	.	.	.	.	.	.	.	G	6.789	0.514567	0.12944	.	.	ENSG00000154240	ENST00000535342;ENST00000392769;ENST00000537949	T;T;T	0.45276	0.97;0.97;0.9	4.82	3.85	0.44370	.	0.439424	0.19202	N	0.120158	T	0.36963	0.0986	L	0.55103	1.725	0.80722	D	1	B;B	0.10296	0.003;0.003	B;B	0.09377	0.004;0.004	T	0.22243	-1.0222	10	0.51188	T	0.08	-4.6798	9.1486	0.36948	0.1024:0.0:0.8976:0.0	.	174;174	F5GYE8;Q8N8E3	.;CE112_HUMAN	L	174	ENSP00000442784:P174L;ENSP00000376522:P174L;ENSP00000440775:P174L	ENSP00000376522:P174L	P	-	2	0	CEP112	61559293	1.000000	0.71417	0.625000	0.29200	0.561000	0.35649	3.465000	0.53064	1.161000	0.42604	0.655000	0.94253	CCA		0.383	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		6	29	0	0	0	1	0	6	29				
IL20RA	53832	broad.mit.edu	37	6	137325845	137325845	+	Silent	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:137325845T>A	ENST00000316649.5	-	6	1012	c.777A>T	c.(775-777)gtA>gtT	p.V259V	IL20RA_ENST00000367748.1_Silent_p.V148V|IL20RA_ENST00000541547.1_Silent_p.V210V|IL20RA_ENST00000468393.1_5'UTR	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	259			V -> I (in dbSNP:rs1555498). {ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1, ECO:0000269|Ref.5}.		cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CGGTAATAGATACGGGCAAAA	0.388																																						ENST00000367748.1																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(442-444)gtA>gtT		interleukin 20 receptor, alpha							118.0	123.0	121.0					6																	137325845		2203	4300	6503	SO:0001819	synonymous_variant	53832					integral to membrane	receptor activity	g.chr6:137325845T>A	AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.777A>T	6.37:g.137325845T>A						IL20RA_ENST00000541547.1_Silent_p.V210V|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000316649.5_Silent_p.V259V	p.V148V			Q9UHF4	I20RA_HUMAN		GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)	5	1030	-	Colorectal(23;0.24)		259			Fibronectin type-III 2.		B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Silent	SNP	ENST00000316649.5	37	c.444A>T	CCDS5181.1																																																																																				0.388	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042393.1	NM_014432		54	115	0	0	0	1	0	54	115				
KIF5C	3800	broad.mit.edu	37	2	149847618	149847618	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:149847618G>A	ENST00000435030.1	+	16	2179	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	KIF5C_ENST00000397413.1_Missense_Mutation_p.R372H|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R509H			O60282	KIF5C_HUMAN	kinesin family member 5C	604					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CTGGTGAACCGCAGCAAACAG	0.577																																						ENST00000435030.1																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1810-1812)cGc>cAc		kinesin family member 5C							49.0	56.0	54.0					2																	149847618		2014	4200	6214	SO:0001583	missense	3800				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr2:149847618G>A	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.1811G>A	2.37:g.149847618G>A	ENSP00000393379:p.Arg604His					KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.R509H|KIF5C_ENST00000397413.1_Missense_Mutation_p.R372H	p.R604H			O60282	KIF5C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.108)	16	2179	+			604					O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37	c.1811G>A		.	.	.	.	.	.	.	.	.	.	G	22.1	4.239492	0.79800	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436;ENST00000397413	D;D;D	0.84070	-1.8;-1.8;-1.8	4.9	4.9	0.64082	.	0.131279	0.52532	D	0.000062	D	0.87481	0.6188	.	.	.	0.80722	D	1	P;D	0.54601	0.907;0.967	B;P	0.53861	0.308;0.736	D	0.87171	0.2221	8	.	.	.	.	18.2728	0.90073	0.0:0.0:1.0:0.0	.	604;170	O60282;Q3LIE3	KIF5C_HUMAN;.	H	604;509;507;372	ENSP00000393379:R604H;ENSP00000410115:R509H;ENSP00000380560:R372H	.	R	+	2	0	KIF5C	149555864	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.657000	0.98554	2.529000	0.85273	0.655000	0.94253	CGC		0.577	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522		7	23	0	0	0	1	0	7	23				
OSBPL2	9885	broad.mit.edu	37	20	60856119	60856119	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:60856119A>G	ENST00000313733.3	+	8	882	c.680A>G	c.(679-681)aAt>aGt	p.N227S	OSBPL2_ENST00000439951.2_Missense_Mutation_p.N135S|OSBPL2_ENST00000358053.2_Missense_Mutation_p.N215S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	227					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CACAGACATAATGAAGCCTAC	0.537																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(679-681)aAt>aGt		oxysterol binding protein-like 2							139.0	132.0	134.0					20																	60856119		2203	4300	6503	SO:0001583	missense	9885				lipid transport		lipid binding	g.chr20:60856119A>G	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.680A>G	20.37:g.60856119A>G	ENSP00000316649:p.Asn227Ser					OSBPL2_ENST00000358053.2_Missense_Mutation_p.N215S|OSBPL2_ENST00000439951.2_Missense_Mutation_p.N135S	p.N227S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		8	882	+	Breast(26;7.76e-09)		227					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Missense_Mutation	SNP	ENST00000313733.3	37	c.680A>G	CCDS13495.1	.	.	.	.	.	.	.	.	.	.	A	8.482	0.860006	0.17178	.	.	ENSG00000130703	ENST00000358053;ENST00000313733;ENST00000439951	T;T;T	0.31769	1.48;1.48;1.48	5.12	1.57	0.23409	.	0.594760	0.19332	N	0.116872	T	0.30386	0.0763	M	0.65320	2	0.23611	N	0.997291	B;B;B;B	0.23128	0.08;0.01;0.008;0.01	B;B;B;B	0.28305	0.088;0.021;0.012;0.021	T	0.27971	-1.0058	10	0.52906	T	0.07	-16.8317	8.9973	0.36061	0.7779:0.0:0.2221:0.0	.	135;227;215;227	E7ET92;B2RDK3;Q9H1P3-2;Q9H1P3	.;.;.;OSBL2_HUMAN	S	215;227;135	ENSP00000350755:N215S;ENSP00000316649:N227S;ENSP00000397602:N135S	ENSP00000316649:N227S	N	+	2	0	OSBPL2	60289514	0.001000	0.12720	0.003000	0.11579	0.172000	0.22775	1.792000	0.38754	0.291000	0.22468	0.459000	0.35465	AAT		0.537	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		45	144	0	0	0	1	0	45	144				
TRBV9	28586	broad.mit.edu	37	7	142239700	142239700	+	RNA	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:142239700C>T	ENST00000390363.2	-	0	226				TRBV5-3_ENST00000390362.1_RNA					T cell receptor beta variable 9																		ACTGGAGGCCCTGGTCCAGGC	0.507																																						ENST00000390363.2																			0																				82.0	79.0	80.0					7																	142239700		1923	4137	6060			28586							g.chr7:142239700C>T	L36092		7q34	2012-02-07			ENSG00000211716	ENSG00000211716		"""T cell receptors / TRB locus"""	12246	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV1S1A1N1, TCRBV9S1			OTTHUMG00000158527		7.37:g.142239700C>T														0	226	-									RNA	SNP	ENST00000390363.2	37																																																																																						0.507	TRBV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351233.1	NG_001333		20	38	0	0	0	1	0	20	38				
CAPN15	6650	broad.mit.edu	37	16	597220	597220	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:597220G>A	ENST00000219611.2	+	4	745	c.382G>A	c.(382-384)Gag>Aag	p.E128K	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	128	Glu-rich.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ggacaaggacgaggaggagaa	0.716																																						ENST00000219611.2																			0											c.(382-384)Gag>Aag		calpain 15							6.0	8.0	7.0					16																	597220		2106	4178	6284	SO:0001583	missense	6650							g.chr16:597220G>A	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.382G>A	16.37:g.597220G>A	ENSP00000219611:p.Glu128Lys					LA16c-366D1.3_ENST00000565879.1_RNA	p.E128K	NM_005632.2	NP_005623.1					4	745	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.382G>A	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	g	3.735	-0.054754	0.07362	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	D	0.88741	-2.42	1.13	1.13	0.20643	.	2.680210	0.02479	U	0.088302	T	0.80722	0.4677	N	0.08118	0	0.09310	N	1	D	0.56521	0.976	P	0.50825	0.651	T	0.74633	-0.3600	10	0.06891	T	0.86	.	5.6086	0.17392	0.0:0.0:1.0:0.0	.	128	O75808	CAN15_HUMAN	K	128	ENSP00000219611:E128K	ENSP00000219611:E128K	E	+	1	0	SOLH	537221	0.007000	0.16637	0.004000	0.12327	0.063000	0.16089	1.385000	0.34408	0.919000	0.36945	0.197000	0.17608	GAG		0.716	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		3	7	0	0	0	1	0	3	7				
ASAP1	50807	broad.mit.edu	37	8	131181242	131181242	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:131181242T>C	ENST00000518721.1	-	10	1045	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ASAP1_ENST00000357668.1_Missense_Mutation_p.Y273C	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	273					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACTTACATTATATAAATCAGC	0.284																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(817-819)tAt>tGt		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							53.0	60.0	57.0					8																	131181242		2200	4291	6491	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131181242T>C	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.818A>G	8.37:g.131181242T>C	ENSP00000429900:p.Tyr273Cys					ASAP1_ENST00000518721.1_Missense_Mutation_p.Y273C	p.Y273C			Q9ULH1	ASAP1_HUMAN			9	845	-			273					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.818A>G	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	24.6|24.6	4.554416|4.554416	0.86231|0.86231	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124|ENST00000343135;ENST00000357668;ENST00000518721;ENST00000524367	.|T;T;T	.|0.04194	.|3.68;3.68;3.68	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.125108	.|0.56097	.|D	.|0.000031	T|T	0.09555|0.09555	0.0235|0.0235	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.997;0.997;1.0	.|P;P;D	.|0.87578	.|0.785;0.785;0.998	T|T	0.45512|0.45512	-0.9256|-0.9256	5|10	.|0.87932	.|D	.|0	.|.	15.1724|15.1724	0.72884|0.72884	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|273;273;273	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	M|C	90|273;273;273;243	.|ENSP00000350297:Y273C;ENSP00000429900:Y273C;ENSP00000430588:Y243C	.|ENSP00000344591:Y273C	I|Y	-|-	3|2	3|0	ASAP1|ASAP1	131250424|131250424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.566000|5.566000	0.67372|0.67372	2.254000|2.254000	0.74563|0.74563	0.533000|0.533000	0.62120|0.62120	ATA|TAT		0.284	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		18	30	0	0	0	1	0	18	30				
SCAF11	9169	broad.mit.edu	37	12	46316909	46316909	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:46316909T>C	ENST00000369367.3	-	13	4168	c.3935A>G	c.(3934-3936)aAt>aGt	p.N1312S	SCAF11_ENST00000549162.1_Missense_Mutation_p.N1120S|SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000419565.2_Missense_Mutation_p.N1312S|SCAF11_ENST00000465950.1_Missense_Mutation_p.N997S	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1312					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACTCATGTTATTACTTACATG	0.398																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2989-2991)aAt>aGt		SR-related CTD-associated factor 11							107.0	103.0	104.0					12																	46316909		2203	4300	6503	SO:0001583	missense	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46316909T>C	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3935A>G	12.37:g.46316909T>C	ENSP00000358374:p.Asn1312Ser					SCAF11_ENST00000550629.1_5'UTR|SCAF11_ENST00000369367.3_Missense_Mutation_p.N1312S|SCAF11_ENST00000549162.1_Missense_Mutation_p.N1120S|SCAF11_ENST00000419565.2_Missense_Mutation_p.N1312S	p.N997S			Q99590	SCAFB_HUMAN			3	4199	-			1312					A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	c.2990A>G	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	13.67	2.307873	0.40895	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	6.17	-0.196	0.13232	.	0.227371	0.38897	N	0.001530	T	0.28101	0.0693	L	0.27053	0.805	0.31162	N	0.704182	B	0.31153	0.31	B	0.31442	0.13	T	0.13872	-1.0493	10	0.38643	T	0.18	-16.4229	5.5691	0.17187	0.1186:0.3196:0.0:0.5618	.	1312	Q99590	SCAFB_HUMAN	S	997;1312;1120;1312	ENSP00000449812:N997S;ENSP00000358374:N1312S;ENSP00000448864:N1120S;ENSP00000413036:N1312S	ENSP00000358374:N1312S	N	-	2	0	SCAF11	44603176	0.980000	0.34600	0.974000	0.42286	0.993000	0.82548	0.129000	0.15830	-0.247000	0.09597	0.533000	0.62120	AAT		0.398	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		28	101	0	0	0	1	0	28	101				
PAK7	57144	broad.mit.edu	37	20	9525046	9525046	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:9525046C>T	ENST00000378429.3	-	9	2385	c.1839G>A	c.(1837-1839)gaG>gaA	p.E613E	PAK7_ENST00000378423.1_Silent_p.E613E|PAK7_ENST00000353224.5_Silent_p.E613E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	613	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TAGAAATCACCTCAGGGGCCA	0.507																																						ENST00000378429.3																			0				NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81						c.(1837-1839)gaG>gaA		p21 protein (Cdc42/Rac)-activated kinase 7							124.0	113.0	117.0					20																	9525046		2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9525046C>T	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1839G>A	20.37:g.9525046C>T						PAK7_ENST00000353224.5_Silent_p.E613E|PAK7_ENST00000378423.1_Silent_p.E613E	p.E613E	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		9	2385	-			613			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1839G>A	CCDS13107.1																																																																																				0.507	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			13	154	0	0	0	1	0	13	154				
IFT43	112752	broad.mit.edu	37	14	76488695	76488695	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:76488695G>A	ENST00000314067.6	+	3	207	c.173G>A	c.(172-174)tGc>tAc	p.C58Y	IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000556742.1_Missense_Mutation_p.C58Y|IFT43_ENST00000238628.6_Missense_Mutation_p.C58Y	NM_001102564.1	NP_001096034.1	Q96FT9	IFT43_HUMAN	intraflagellar transport 43	58					cilium morphogenesis (GO:0060271)|intraciliary retrograde transport (GO:0035721)	cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						TTACCTCGCTGCCGACAGGGA	0.443																																						ENST00000556742.1																			0				endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(172-174)tGc>tAc		intraflagellar transport 43 homolog (Chlamydomonas)							151.0	151.0	151.0					14																	76488695		2203	4300	6503	SO:0001583	missense	112752				cilium morphogenesis|intraflagellar retrograde transport			g.chr14:76488695G>A	BC010436	CCDS9847.1, CCDS41973.1, CCDS58330.1	14q24.3	2014-07-03	2014-07-03	2011-06-09				"""Intraflagellar transport homologs"""	29669	protein-coding gene	gene with protein product		614068	"""chromosome 14 open reading frame 179"", ""intraflagellar transport 43 homolog (Chlamydomonas)"""	C14orf179		21378380	Standard	NM_052873		Approved	FLJ32173, MGC16028	uc010asm.1	Q96FT9		ENST00000314067.6:c.173G>A	14.37:g.76488695G>A	ENSP00000324177:p.Cys58Tyr					IFT43_ENST00000314067.6_Missense_Mutation_p.C58Y|IFT43_ENST00000553338.1_3'UTR|IFT43_ENST00000238628.6_Missense_Mutation_p.C58Y	p.C58Y	NM_001255995.1	NP_001242924.1	Q96FT9	IFT43_HUMAN			3	176	+			58					B3KPT6|B4DZI9|G3V385|O95418|Q9ULA9	Missense_Mutation	SNP	ENST00000314067.6	37	c.173G>A	CCDS41973.1	.	.	.	.	.	.	.	.	.	.	G	9.820	1.185637	0.21870	.	.	ENSG00000119650	ENST00000314067;ENST00000238628;ENST00000556742	T;T	0.42900	0.98;0.96	4.7	4.7	0.59300	.	0.998146	0.08112	N	0.996096	T	0.54013	0.1832	L	0.43152	1.355	0.09310	N	1	P;D;P;D	0.54397	0.935;0.966;0.935;0.966	B;D;B;D	0.63877	0.422;0.919;0.422;0.919	T	0.44982	-0.9292	10	0.09843	T	0.71	-2.3792	14.966	0.71193	0.0:0.0:1.0:0.0	.	58;58;58;58	Q96FT9;Q96FT9-3;Q96FT9-2;G3V385	IFT43_HUMAN;.;.;.	Y	58	ENSP00000324177:C58Y;ENSP00000238628:C58Y	ENSP00000238628:C58Y	C	+	2	0	IFT43	75558448	0.983000	0.35010	0.100000	0.21137	0.013000	0.08279	5.172000	0.65003	2.449000	0.82847	0.585000	0.79938	TGC		0.443	IFT43-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052873		71	104	0	0	0	1	0	71	104				
AHNAK2	113146	broad.mit.edu	37	14	105415896	105415896	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:105415896C>T	ENST00000333244.5	-	7	6011	c.5892G>A	c.(5890-5892)aaG>aaA	p.K1964K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1964						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CACCATCCAGCTTAGCCTTCT	0.592																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5890-5892)aaG>aaA		AHNAK nucleoprotein 2							143.0	156.0	152.0					14																	105415896		2011	4136	6147	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105415896C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5892G>A	14.37:g.105415896C>T						AHNAK2_ENST00000557457.1_Intron	p.K1964K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6011	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1964					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5892G>A	CCDS45177.1																																																																																				0.592	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		155	352	0	0	0	1	0	155	352				
PRKAR1B	5575	broad.mit.edu	37	7	647052	647052	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:647052C>T	ENST00000406797.1	-	5	652	c.478G>A	c.(478-480)Gct>Act	p.A160T	AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A160T|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A160T|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A160T|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A160T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	160					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GTCTCCCCAGCGATGTGAGTG	0.468																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(478-480)Gct>Act		protein kinase, cAMP-dependent, regulatory, type I, beta							125.0	105.0	112.0					7																	647052		2203	4296	6499	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:647052C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.478G>A	7.37:g.647052C>T	ENSP00000385749:p.Ala160Thr					PRKAR1B_ENST00000403562.1_Missense_Mutation_p.A160T|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.A160T|AC147651.4_ENST00000429872.1_RNA|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.A160T|PRKAR1B_ENST00000537384.1_Missense_Mutation_p.A160T	p.A160T	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	5	652	-		Ovarian(82;0.0779)	160					Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.478G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	16.94	3.261463	0.59431	.	.	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-2.0	3.66	3.66	0.41972	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.115885	0.56097	U	0.000021	D	0.91998	0.7465	M	0.69358	2.11	0.58432	D	0.999998	B	0.29988	0.264	B	0.32677	0.15	D	0.91581	0.5279	10	0.45353	T	0.12	-9.5854	14.4811	0.67582	0.0:1.0:0.0:0.0	.	160	P31321	KAP1_HUMAN	T	160;160;160;160;160;160;105;160	ENSP00000440449:A160T;ENSP00000444487:A160T;ENSP00000385749:A160T;ENSP00000385349:A160T;ENSP00000353415:A160T;ENSP00000402648:A160T;ENSP00000394633:A105T;ENSP00000406670:A160T	ENSP00000353415:A160T	A	-	1	0	PRKAR1B	613578	1.000000	0.71417	0.606000	0.28943	0.713000	0.41058	5.359000	0.66074	2.037000	0.60232	0.478000	0.44815	GCT		0.468	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			4	66	0	0	0	1	0	4	66				
HECTD1	25831	broad.mit.edu	37	14	31590677	31590677	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:31590677C>A	ENST00000399332.1	-	28	5638	c.5150G>T	c.(5149-5151)gGc>gTc	p.G1717V	HECTD1_ENST00000553700.1_Missense_Mutation_p.G1717V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1717					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGAGCGGGAGCCAGCTCGACG	0.498																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(5149-5151)gGc>gTc		HECT domain containing E3 ubiquitin protein ligase 1							65.0	70.0	68.0					14																	31590677		1939	4136	6075	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31590677C>A	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.5150G>T	14.37:g.31590677C>A	ENSP00000382269:p.Gly1717Val					HECTD1_ENST00000553700.1_Missense_Mutation_p.G1717V	p.G1717V	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	28	5638	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		1717					D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.5150G>T	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.614|7.614	0.675443|0.675443	0.14841|0.14841	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	.|T;T;T	.|0.08458	.|3.09;3.09;3.09	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.490978	.|0.14976	.|U	.|0.287517	T|T	0.05914|0.05914	0.0154|0.0154	N|N	0.08118|0.08118	0|0	0.58432|0.58432	D|D	0.999997|0.999997	.|B;B	.|0.31893	.|0.03;0.345	.|B;B	.|0.29862	.|0.047;0.108	T|T	0.47522|0.47522	-0.9111|-0.9111	5|10	.|0.59425	.|D	.|0.04	-6.3687|-6.3687	14.9028|14.9028	0.70692|0.70692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1717;1717	.|D3DS86;Q9ULT8	.|.;HECD1_HUMAN	S|V	83|1717;1719;1717;1144	.|ENSP00000450697:G1717V;ENSP00000382269:G1717V;ENSP00000451860:G1144V	.|ENSP00000261312:G1719V	A|G	-|-	1|2	0|0	HECTD1|HECTD1	30660428|30660428	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.082000|0.082000	0.17680|0.17680	3.549000|3.549000	0.53681|0.53681	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GCT|GGC		0.498	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			25	60	1	0	1.17739e-12	1	1.38851e-12	25	60				
ESYT3	83850	broad.mit.edu	37	3	138183305	138183305	+	Missense_Mutation	SNP	G	G	A	rs376528570		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:138183305G>A	ENST00000389567.4	+	9	1220	c.1034G>A	c.(1033-1035)cGg>cAg	p.R345Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	345	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAGCATTTCCGGAGTAGGACC	0.562																																						ENST00000389567.4																			0				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						c.(1033-1035)cGg>cAg		extended synaptotagmin-like protein 3							104.0	87.0	93.0					3																	138183305		2203	4300	6503	SO:0001583	missense	83850					integral to membrane|plasma membrane		g.chr3:138183305G>A	AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.1034G>A	3.37:g.138183305G>A	ENSP00000374218:p.Arg345Gln						p.R345Q	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN			9	1220	+			345			C2 1.		A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Missense_Mutation	SNP	ENST00000389567.4	37	c.1034G>A	CCDS3101.2	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001900	0.54254	.	.	ENSG00000158220	ENST00000389567	T	0.72394	-0.65	4.79	3.92	0.45320	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.139403	0.47852	N	0.000220	T	0.71787	0.3381	L	0.41906	1.305	0.80722	D	1	D	0.76494	0.999	D	0.67900	0.954	T	0.67325	-0.5699	10	0.23302	T	0.38	-22.2859	7.0951	0.25305	0.1977:0.0:0.8023:0.0	.	345	A0FGR9	ESYT3_HUMAN	Q	345	ENSP00000374218:R345Q	ENSP00000374218:R345Q	R	+	2	0	ESYT3	139665995	0.997000	0.39634	1.000000	0.80357	0.965000	0.64279	1.685000	0.37659	1.250000	0.43966	0.455000	0.32223	CGG		0.562	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303993.1	NM_031913		4	79	0	0	0	1	0	4	79				
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T	rs201682072		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393																																						ENST00000435989.2																			10	Substitution - Missense(10)	p.D404E(10)	urinary_tract(3)|kidney(3)|prostate(2)|NS(1)|skin(1)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1210-1212)gaC>gaA		zinc finger protein 814							117.0	93.0	100.0					19																	58385546		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385546G>T		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1212C>A	19.37:g.58385546G>T	ENSP00000410545:p.Asp404Glu					ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron	p.D404E	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1446	-			404					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1212C>A	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.12	1.545823	0.27652	.	.	ENSG00000204514	ENST00000435989;ENST00000376205	T	0.14640	2.49	2.33	-4.66	0.03329	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04363	0.0120	N	0.03177	-0.4	0.09310	N	1	B	0.13145	0.007	B	0.10450	0.005	T	0.33574	-0.9863	9	0.54805	T	0.06	.	1.2175	0.01917	0.3897:0.3041:0.1331:0.1731	.	404	B7Z6K7	ZN814_HUMAN	E	404;266	ENSP00000410545:D404E	ENSP00000365378:D266E	D	-	3	2	ZNF814	63077358	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	-1.489000	0.02306	-2.531000	0.00491	-1.292000	0.01352	GAC		0.393	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		3	20	1	0	0.004672	1	0.00472729	3	20				
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:7578461C>A	ENST00000269305.4	-	5	658	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.V157F	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	157	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:9419979}.|V -> L (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)	ATGGCGCGGACGCGGGTGCCG	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		231	Substitution - Missense(189)|Deletion - Frameshift(15)|Deletion - In frame(14)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)|Complex - frameshift(1)	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(1)	lung(69)|liver(30)|upper_aerodigestive_tract(26)|breast(19)|oesophagus(14)|ovary(13)|stomach(9)|large_intestine(7)|haematopoietic_and_lymphoid_tissue(7)|central_nervous_system(6)|bone(5)|vulva(4)|urinary_tract(4)|skin(3)|pancreas(3)|endometrium(2)|kidney(2)|biliary_tract(2)|soft_tissue(2)|prostate(1)|adrenal_gland(1)|salivary_gland(1)|thymus(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						c.(469-471)Gtc>Ttc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578461		2202	4300	6502	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.chr17:7578461C>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.469G>T	17.37:g.7578461C>A	ENSP00000269305:p.Val157Phe	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_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	601	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	157		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.469G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	12.19	1.865109	0.32977	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99822	-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94;-6.94	5.47	2.42	0.29668	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.216722	0.39210	N	0.001429	D	0.99718	0.9891	M	0.86420	2.815	0.33606	D	0.603	D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.999;0.999;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.997;0.994;0.984;0.981;0.996;0.998;0.996	D	0.97998	1.0358	10	0.72032	D	0.01	-16.7152	5.3541	0.16051	0.0:0.6119:0.146:0.2421	.	118;157;157;64;157;157;157	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	157;157;157;157;157;157;146;64;25;64;25;157	ENSP00000410739:V157F;ENSP00000352610:V157F;ENSP00000269305:V157F;ENSP00000398846:V157F;ENSP00000391127:V157F;ENSP00000391478:V157F;ENSP00000425104:V25F;ENSP00000423862:V64F;ENSP00000424104:V157F	ENSP00000269305:V157F	V	-	1	0	TP53	7519186	0.137000	0.22531	0.013000	0.15412	0.150000	0.21749	0.548000	0.23314	0.386000	0.24997	-0.253000	0.11424	GTC		0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		50	32	1	0	5.76465e-13	1	6.84552e-13	50	32				
CCDC89	220388	broad.mit.edu	37	11	85396727	85396727	+	Missense_Mutation	SNP	C	C	A	rs200462857		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:85396727C>A	ENST00000316398.3	-	1	593	c.447G>T	c.(445-447)aaG>aaT	p.K149N	CREBZF_ENST00000531515.1_5'Flank|CREBZF_ENST00000534224.1_5'Flank	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	149						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CCTCCCTCAGCTTGATGTTCT	0.507																																						ENST00000316398.3																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15						c.(445-447)aaG>aaT		coiled-coil domain containing 89							94.0	86.0	89.0					11																	85396727		2203	4299	6502	SO:0001583	missense	220388					cytoplasm|nucleus		g.chr11:85396727C>A	AK095478	CCDS8270.1	11q14.1	2006-03-16			ENSG00000179071	ENSG00000179071			26762	protein-coding gene	gene with protein product						12477932	Standard	NM_152723		Approved	FLJ38159	uc001pau.1	Q8N998	OTTHUMG00000166976	ENST00000316398.3:c.447G>T	11.37:g.85396727C>A	ENSP00000320649:p.Lys149Asn						p.K149N	NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN			1	593	-		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	149						Missense_Mutation	SNP	ENST00000316398.3	37	c.447G>T	CCDS8270.1	.	.	.	.	.	.	.	.	.	.	c	14.10	2.434446	0.43224	.	.	ENSG00000179071	ENST00000316398	.	.	.	5.53	2.18	0.27775	.	0.327733	0.32901	N	0.005504	T	0.60418	0.2267	M	0.73598	2.24	0.35425	D	0.793571	P	0.42203	0.773	B	0.43103	0.408	T	0.69946	-0.5007	8	.	.	.	-19.6919	14.6474	0.68769	0.0:0.7943:0.0:0.2057	.	149	Q8N998	CCD89_HUMAN	N	149	.	.	K	-	3	2	CCDC89	85074375	0.859000	0.29813	0.705000	0.30386	0.316000	0.28119	0.861000	0.27885	0.316000	0.23135	-0.810000	0.03169	AAG		0.507	CCDC89-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392182.1	NM_152723		45	84	1	0	8.05343e-35	1	9.97925e-35	45	84				
PTP4A2	8073	broad.mit.edu	37	1	32381528	32381528	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:32381528C>T	ENST00000602725.1	-	2	574	c.157G>A	c.(157-159)Gct>Act	p.A53T	RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_Missense_Mutation_p.A53T|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000356536.3_Missense_Mutation_p.A53T|PTP4A2_ENST00000344035.6_Missense_Mutation_p.A53T			Q12974	TP4A2_HUMAN	protein tyrosine phosphatase type IVA, member 2	53				A -> D (in Ref. 9; AAB59575). {ECO:0000305}.	peptidyl-tyrosine dephosphorylation (GO:0035335)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	prenylated protein tyrosine phosphatase activity (GO:0004727)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)				TCAACTGGAGCTTTATCATAT	0.279																																						ENST00000344035.6																			0				kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						c.(157-159)Gct>Act		protein tyrosine phosphatase type IVA, member 2							62.0	58.0	59.0					1																	32381528		2203	4300	6503	SO:0001583	missense	8073					early endosome|plasma membrane	prenylated protein tyrosine phosphatase activity|protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr1:32381528C>T	L48723	CCDS348.1, CCDS53292.1, CCDS59193.1	1p35	2011-06-09			ENSG00000184007	ENSG00000184007		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9635	protein-coding gene	gene with protein product		601584		PTP4A		8661118, 9514946	Standard	NM_080391		Approved	HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2	uc001bty.2	Q12974	OTTHUMG00000003801	ENST00000602725.1:c.157G>A	1.37:g.32381528C>T	ENSP00000473259:p.Ala53Thr					PTP4A2_ENST00000602725.1_Missense_Mutation_p.A53T|PTP4A2_ENST00000457805.2_Intron|PTP4A2_ENST00000356536.3_Missense_Mutation_p.A53T|RP11-84A19.4_ENST00000602889.1_lincRNA|PTP4A2_ENST00000470404.1_Missense_Mutation_p.A53T	p.A53T	NM_080391.3	NP_536316.1	Q12974	TP4A2_HUMAN			3	1150	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	53	A -> D (in Ref. 9; AAB59575).				A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50	Missense_Mutation	SNP	ENST00000602725.1	37	c.157G>A	CCDS348.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877376	0.33162	.	.	ENSG00000184007	ENST00000344035;ENST00000356536;ENST00000470404;ENST00000468531	D	0.94897	-3.55	5.45	5.45	0.79879	Dual specificity phosphatase, catalytic domain (1);	0.162135	0.56097	N	0.000033	D	0.88983	0.6586	N	0.17379	0.485	0.80722	D	1	B;B	0.18461	0.028;0.0	B;B	0.20577	0.03;0.008	D	0.84435	0.0579	10	0.09590	T	0.72	2.0E-4	19.2611	0.93968	0.0:1.0:0.0:0.0	.	53;53	Q12974-2;Q12974	.;TP4A2_HUMAN	T	53	ENSP00000344909:A53T	ENSP00000344909:A53T	A	-	1	0	PTP4A2	32154115	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.885000	0.48570	2.733000	0.93635	0.591000	0.81541	GCT		0.279	PTP4A2-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000468092.1	NM_080391		3	38	0	0	0	1	0	3	38				
ATG2B	55102	broad.mit.edu	37	14	96782897	96782897	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:96782897A>G	ENST00000359933.4	-	21	4227	c.3334T>C	c.(3334-3336)Tct>Cct	p.S1112P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1112					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAACTGCTAGAATGAAGGCAA	0.333																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3334-3336)Tct>Cct		autophagy related 2B							116.0	107.0	110.0					14																	96782897		1855	4105	5960	SO:0001583	missense	55102							g.chr14:96782897A>G	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3334T>C	14.37:g.96782897A>G	ENSP00000353010:p.Ser1112Pro						p.S1112P	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	21	4227	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1112					Q6ZRE7|Q96DQ3|Q9NW80	Missense_Mutation	SNP	ENST00000359933.4	37	c.3334T>C	CCDS9944.2	.	.	.	.	.	.	.	.	.	.	A	17.94	3.511564	0.64522	.	.	ENSG00000066739	ENST00000359933	T	0.54675	0.56	5.55	1.43	0.22495	.	0.171861	0.39687	U	0.001295	T	0.43433	0.1247	L	0.59436	1.845	0.35912	D	0.831203	B	0.31009	0.303	B	0.28553	0.091	T	0.43294	-0.9400	10	0.48119	T	0.1	.	7.7215	0.28736	0.6006:0.2445:0.0:0.1549	.	1112	Q96BY7	ATG2B_HUMAN	P	1112	ENSP00000353010:S1112P	ENSP00000353010:S1112P	S	-	1	0	ATG2B	95852650	1.000000	0.71417	0.018000	0.16275	0.994000	0.84299	3.309000	0.51903	0.029000	0.15352	0.528000	0.53228	TCT		0.333	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		12	49	0	0	0	1	0	12	49				
MOGAT2	80168	broad.mit.edu	37	11	75439906	75439906	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:75439906C>T	ENST00000198801.5	+	5	792	c.722C>T	c.(721-723)tCc>tTc	p.S241F	MOGAT2_ENST00000526712.1_Missense_Mutation_p.S159F	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	241					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTGGCTCCTGGTTACGC	0.502																																						ENST00000526712.1																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(475-477)tCc>tTc		monoacylglycerol O-acyltransferase 2							151.0	137.0	142.0					11																	75439906		2200	4293	6493	SO:0001583	missense	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75439906C>T	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.722C>T	11.37:g.75439906C>T	ENSP00000198801:p.Ser241Phe					MOGAT2_ENST00000198801.5_Missense_Mutation_p.S241F	p.S159F			Q3SYC2	MOGT2_HUMAN			4	1249	+	Ovarian(111;0.103)		241					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	ENST00000198801.5	37	c.476C>T	CCDS8240.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836568	0.91117	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.18657	2.2;2.2	6.03	6.03	0.97812	.	0.218517	0.48767	D	0.000179	T	0.51261	0.1664	M	0.90252	3.1	0.80722	D	1	P	0.43314	0.803	P	0.53549	0.729	T	0.55829	-0.8079	10	0.72032	D	0.01	-9.8115	19.1349	0.93424	0.0:1.0:0.0:0.0	.	241	Q3SYC2	MOGT2_HUMAN	F	241;159	ENSP00000198801:S241F;ENSP00000436283:S159F	ENSP00000198801:S241F	S	+	2	0	MOGAT2	75117554	1.000000	0.71417	1.000000	0.80357	0.745000	0.42441	4.652000	0.61454	2.861000	0.98227	0.655000	0.94253	TCC		0.502	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		25	98	0	0	0	1	0	25	98				
HECTD1	25831	broad.mit.edu	37	14	31572142	31572142	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:31572142C>T	ENST00000399332.1	-	41	8018	c.7530G>A	c.(7528-7530)aaG>aaA	p.K2510K	HECTD1_ENST00000553700.1_Silent_p.K2510K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2510	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TATAACCCAGCTTAGGTTCAG	0.358																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(7528-7530)aaG>aaA		HECT domain containing E3 ubiquitin protein ligase 1							151.0	143.0	146.0					14																	31572142		1894	4114	6008	SO:0001819	synonymous_variant	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31572142C>T	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7530G>A	14.37:g.31572142C>T						HECTD1_ENST00000553700.1_Silent_p.K2510K	p.K2510K	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	41	8018	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2510			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	ENST00000399332.1	37	c.7530G>A	CCDS41939.1	.	.	.	.	.	.	.	.	.	.	C	7.953	0.745211	0.15710	.	.	ENSG00000092148	ENST00000554882	.	.	.	5.94	4.11	0.48088	.	.	.	.	.	T	0.60287	0.2257	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58244	-0.7670	4	.	.	.	-10.0871	10.0006	0.41927	0.0:0.7561:0.0:0.2439	.	.	.	.	N	876	.	.	S	-	2	0	HECTD1	30641893	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.313000	0.43735	1.522000	0.49001	0.650000	0.86243	AGC		0.358	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			24	99	0	0	0	1	0	24	99				
FBLN7	129804	broad.mit.edu	37	2	112942821	112942821	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:112942821G>A	ENST00000331203.2	+	7	1123	c.852G>A	c.(850-852)ggG>ggA	p.G284G	FBLN7_ENST00000409903.1_Silent_p.G284G|FBLN7_ENST00000409667.3_Silent_p.G150G|FBLN7_ENST00000409450.3_Silent_p.G238G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	284	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GCCCCCAGGGGACCACATGCA	0.577																																						ENST00000331203.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(850-852)ggG>ggA		fibulin 7							161.0	142.0	148.0					2																	112942821		2203	4300	6503	SO:0001819	synonymous_variant	129804				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding	g.chr2:112942821G>A		CCDS2095.1, CCDS46391.1	2q13	2010-06-15			ENSG00000144152	ENSG00000144152		"""Fibulins"""	26740	protein-coding gene	gene with protein product		611551				17699513	Standard	NM_153214		Approved	FLJ37440, TM14	uc002tho.1	Q53RD9	OTTHUMG00000153267	ENST00000331203.2:c.852G>A	2.37:g.112942821G>A						FBLN7_ENST00000409450.3_Silent_p.G238G|FBLN7_ENST00000409903.1_Silent_p.G284G|FBLN7_ENST00000409667.3_Silent_p.G150G	p.G284G	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN			7	1123	+			284			EGF-like 3; calcium-binding (Potential).		A0JNV1|A0JNV2|Q5H9P5|Q8N9G0	Silent	SNP	ENST00000331203.2	37	c.852G>A	CCDS2095.1																																																																																				0.577	FBLN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330505.1	NM_153214		28	93	0	0	0	1	0	28	93				
FAT3	120114	broad.mit.edu	37	11	92087380	92087380	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:92087380A>C	ENST00000298047.6	+	1	2119	c.2102A>C	c.(2101-2103)aAa>aCa	p.K701T	FAT3_ENST00000525166.1_Missense_Mutation_p.K551T|FAT3_ENST00000541502.1_Missense_Mutation_p.K701T|FAT3_ENST00000409404.2_Missense_Mutation_p.K701T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	701					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATTAAGGCAAAAGCAAATGGG	0.393										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(2101-2103)aAa>aCa		FAT atypical cadherin 3							126.0	129.0	128.0					11																	92087380		1844	4097	5941	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92087380A>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.2102A>C	11.37:g.92087380A>C	ENSP00000298047:p.Lys701Thr	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.K701T|FAT3_ENST00000541502.1_Missense_Mutation_p.K701T|FAT3_ENST00000525166.1_Missense_Mutation_p.K551T	p.K701T			Q8TDW7	FAT3_HUMAN			1	2119	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	701					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.2102A>C		.	.	.	.	.	.	.	.	.	.	A	15.41	2.825715	0.50739	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.47	4.35	0.52113	.	.	.	.	.	T	0.58581	0.2132	M	0.69358	2.11	0.38151	D	0.938757	D	0.57899	0.981	P	0.52031	0.688	T	0.61168	-0.7117	9	0.35671	T	0.21	.	10.3157	0.43736	0.9227:0.0:0.0773:0.0	.	701	Q8TDW7-3	.	T	701;701;701;551	ENSP00000298047:K701T;ENSP00000387040:K701T;ENSP00000443786:K701T;ENSP00000432586:K551T	ENSP00000298047:K701T	K	+	2	0	FAT3	91727028	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.937000	0.63513	0.917000	0.36895	0.383000	0.25322	AAA		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		36	95	0	0	0	1	0	36	95				
RP1	6101	broad.mit.edu	37	8	55537873	55537873	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:55537873G>T	ENST00000220676.1	+	4	1579	c.1431G>T	c.(1429-1431)gaG>gaT	p.E477D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	477					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGGTTCAAGAGAAAATGATTG	0.388																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(1429-1431)gaG>gaT		retinitis pigmentosa 1 (autosomal dominant)							69.0	69.0	69.0					8																	55537873		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55537873G>T	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.1431G>T	8.37:g.55537873G>T	ENSP00000220676:p.Glu477Asp						p.E477D	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	1579	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	477						Missense_Mutation	SNP	ENST00000220676.1	37	c.1431G>T	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263196	0.59431	.	.	ENSG00000104237	ENST00000220676	T	0.35789	1.29	5.39	1.54	0.23209	.	0.000000	0.64402	D	0.000019	T	0.43389	0.1245	L	0.34521	1.04	0.38690	D	0.952745	D	0.89917	1.0	D	0.74674	0.984	T	0.42799	-0.9430	10	0.66056	D	0.02	.	9.4583	0.38769	0.3557:0.0:0.6443:0.0	.	477	P56715	RP1_HUMAN	D	477	ENSP00000220676:E477D	ENSP00000220676:E477D	E	+	3	2	RP1	55700426	0.997000	0.39634	0.993000	0.49108	0.998000	0.95712	0.477000	0.22196	0.641000	0.30601	0.655000	0.94253	GAG		0.388	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		14	62	1	0	4.7546e-09	1	5.31397e-09	14	62				
DPF2	5977	broad.mit.edu	37	11	65116374	65116374	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:65116374C>T	ENST00000528416.1	+	10	1204	c.1071C>T	c.(1069-1071)ctC>ctT	p.L357L	DPF2_ENST00000415073.2_Silent_p.L173L|DPF2_ENST00000252268.4_Silent_p.L371L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	357					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGTACTGTCTCACCCCGTCCA	0.458																																						ENST00000528416.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						c.(1069-1071)ctC>ctT		D4, zinc and double PHD fingers family 2							199.0	161.0	174.0					11																	65116374		2201	4297	6498	SO:0001819	synonymous_variant	5977				apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding	g.chr11:65116374C>T	U94585	CCDS8100.1	11q13.1	2014-05-13	2003-10-06	2003-10-08	ENSG00000133884	ENSG00000133884		"""Zinc fingers, PHD-type"""	9964	protein-coding gene	gene with protein product		601671	"""requiem, apoptosis response zinc finger gene"""	REQ		11845289	Standard	NM_006268		Approved	ubi-d4, BAF45d	uc001odm.3	Q92785	OTTHUMG00000165985	ENST00000528416.1:c.1071C>T	11.37:g.65116374C>T						DPF2_ENST00000252268.4_Silent_p.L371L|DPF2_ENST00000415073.2_Silent_p.L173L	p.L357L	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN			10	1204	+			357					A8K7C9|B4DT58	Silent	SNP	ENST00000528416.1	37	c.1071C>T	CCDS8100.1																																																																																				0.458	DPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387293.3	NM_006268		12	71	0	0	0	1	0	12	71				
C3orf58	205428	broad.mit.edu	37	3	143708394	143708394	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:143708394A>T	ENST00000315691.3	+	3	1539	c.1004A>T	c.(1003-1005)gAt>gTt	p.D335V	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.D97V|C3orf58_ENST00000495414.1_Missense_Mutation_p.D126V	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	335					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGCAAGTTTGATGACTGTGAT	0.348																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1003-1005)gAt>gTt		chromosome 3 open reading frame 58							97.0	89.0	92.0					3																	143708394		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708394A>T	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1004A>T	3.37:g.143708394A>T	ENSP00000320081:p.Asp335Val					C3orf58_ENST00000441925.2_Missense_Mutation_p.D97V|C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.D126V	p.D335V	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1539	+			335					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1004A>T	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	A	13.05	2.121694	0.37436	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.31247	1.5	5.71	5.71	0.89125	.	0.050291	0.85682	D	0.000000	T	0.32852	0.0843	L	0.36672	1.1	0.80722	D	1	B;P	0.51791	0.185;0.948	B;P	0.46850	0.079;0.529	T	0.04103	-1.0977	10	0.48119	T	0.1	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	126;335	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	V	335;126;141;97	ENSP00000320081:D335V	ENSP00000320081:D335V	D	+	2	0	C3orf58	145191084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.188000	0.69820	0.533000	0.62120	GAT		0.348	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		17	39	0	0	0	1	0	17	39				
NEK8	284086	broad.mit.edu	37	17	27068430	27068430	+	Splice_Site	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:27068430G>A	ENST00000268766.6	+	14	1925		c.e14-1		AC010761.6_ENST00000582536.1_RNA|AC010761.6_ENST00000584779.1_RNA|TRAF4_ENST00000444415.3_5'Flank|TRAF4_ENST00000262396.6_5'Flank|TRAF4_ENST00000262395.5_5'Flank	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8						organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTTCCTGGCAGAGAGCGAAGT	0.622																																					NSCLC(6;19 293 14866 25253 49845)	ENST00000268766.6																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.e14-1		NIMA-related kinase 8							58.0	50.0	53.0					17																	27068430		2203	4299	6502	SO:0001630	splice_region_variant	284086					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:27068430G>A	AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.1892-1G>A	17.37:g.27068430G>A						AC010761.6_ENST00000584779.1_RNA		NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN			14	1925	+	Lung NSC(42;0.0158)							A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Splice_Site	SNP	ENST00000268766.6	37		CCDS32597.1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741164	0.69304	.	.	ENSG00000160602	ENST00000268766	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2463	0.89986	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEK8	24092557	1.000000	0.71417	0.997000	0.53966	0.651000	0.38670	9.847000	0.99503	2.547000	0.85894	0.655000	0.94253	.		0.622	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446467.2		Intron	7	27	0	0	0	1	0	7	27				
KIF21A	55605	broad.mit.edu	37	12	39751240	39751240	+	Splice_Site	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:39751240C>A	ENST00000361418.5	-	9	1231		c.e9-1		KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000395670.3_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A						ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTCTTTTACCCTAGTAAAGGA	0.353																																						ENST00000395670.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86						c.e9-1		kinesin family member 21A							79.0	74.0	76.0					12																	39751240		2203	4300	6503	SO:0001630	splice_region_variant	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39751240C>A	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1216-1G>T	12.37:g.39751240C>A						KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site				Q7Z4S6	KI21A_HUMAN			9	1635	-		Lung NSC(34;0.179)|all_lung(34;0.213)						A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Splice_Site	SNP	ENST00000361418.5	37		CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857346	0.71834	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9564	0.89070	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIF21A	38037507	1.000000	0.71417	0.996000	0.52242	0.926000	0.56050	7.574000	0.82434	2.296000	0.77279	0.655000	0.94253	.		0.353	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641	Intron	12	38	1	0	2.61681e-11	1	3.02348e-11	12	38				
HOXD8	3234	broad.mit.edu	37	2	176995356	176995356	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:176995356G>A	ENST00000313173.4	+	1	889	c.262G>A	c.(262-264)Ggc>Agc	p.G88S	HOXD8_ENST00000544999.1_Missense_Mutation_p.G88S|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000429017.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.G88S	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	88					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CGGTAGGGAAGGCCGGGGCCA	0.801																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(262-264)Ggc>Agc		homeobox D8							8.0	10.0	9.0					2																	176995356		1193	2705	3898	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176995356G>A		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.262G>A	2.37:g.176995356G>A	ENSP00000315949:p.Gly88Ser					HOXD8_ENST00000548663.1_Intron|HOXD8_ENST00000450510.2_Missense_Mutation_p.G88S|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000544999.1_Missense_Mutation_p.G88S|HOXD8_ENST00000429017.1_Intron	p.G88S	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	1	889	+			88					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.262G>A	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135685	0.37728	.	.	ENSG00000175879	ENST00000313173;ENST00000544999;ENST00000450510	D;D;D	0.91407	-2.84;-2.73;-2.73	3.54	0.569	0.17340	.	0.348229	0.20564	N	0.089850	T	0.73133	0.3548	N	0.08118	0	0.18873	N	0.999984	B;B	0.14438	0.01;0.01	B;B	0.06405	0.002;0.002	T	0.58086	-0.7698	10	0.12103	T	0.63	.	3.7272	0.08478	0.225:0.0:0.5799:0.1951	.	88;88	Q8IXZ1;P13378	.;HXD8_HUMAN	S	88	ENSP00000315949:G88S;ENSP00000437431:G88S;ENSP00000409026:G88S	ENSP00000315949:G88S	G	+	1	0	HOXD8	176703602	0.920000	0.31207	0.022000	0.16811	0.032000	0.12392	0.923000	0.28757	0.158000	0.19367	-0.257000	0.10917	GGC		0.801	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			13	30	0	0	0	1	0	13	30				
OR13D1	286365	broad.mit.edu	37	9	107457357	107457357	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:107457357C>G	ENST00000318763.5	+	1	698	c.655C>G	c.(655-657)Ctt>Gtt	p.L219V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CCTTCTAAAACTTGTTTGTTC	0.358																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(655-657)Ctt>Gtt		olfactory receptor, family 13, subfamily D, member 1							186.0	179.0	181.0					9																	107457357		2203	4300	6503	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107457357C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.655C>G	9.37:g.107457357C>G	ENSP00000317357:p.Leu219Val						p.L219V	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	698	+			219					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.655C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	4.927	0.172219	0.09391	.	.	ENSG00000179055	ENST00000318763	T	0.00381	7.63	3.87	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33772	U	0.004566	T	0.00695	0.0023	M	0.87097	2.86	0.29211	N	0.874553	P	0.47191	0.891	P	0.53006	0.715	T	0.07009	-1.0795	10	0.66056	D	0.02	.	7.2474	0.26129	0.0:0.8789:0.0:0.1211	.	219	Q8NGV5	O13D1_HUMAN	V	219	ENSP00000317357:L219V	ENSP00000317357:L219V	L	+	1	0	OR13D1	106497178	0.000000	0.05858	0.290000	0.24890	0.264000	0.26372	0.038000	0.13862	1.979000	0.57680	0.511000	0.50034	CTT		0.358	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			18	116	0	0	0	1	0	18	116				
CHN2	1124	broad.mit.edu	37	7	29438072	29438072	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:29438072G>A	ENST00000222792.6	+	5	790	c.260G>A	c.(259-261)cGg>cAg	p.R87Q	CHN2_ENST00000495789.2_Missense_Mutation_p.R100Q|CHN2_ENST00000539406.1_Missense_Mutation_p.R162Q|CHN2_ENST00000435288.2_Missense_Mutation_p.R87Q|CHN2_ENST00000546235.1_Missense_Mutation_p.R72Q|CHN2_ENST00000539389.1_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	87	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				positive regulation of GTPase activity (GO:0043547)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAAAGCCAGCGGCAACCAGGA	0.512																																					Ovarian(1;44 48 13232 18918 31480)	ENST00000222792.6																			0				breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						c.(259-261)cGg>cAg		chimerin 2							129.0	107.0	114.0					7																	29438072		2203	4300	6503	SO:0001583	missense	1124				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr7:29438072G>A	L29126	CCDS5420.1	7p15.3	2013-02-14	2012-10-17		ENSG00000106069	ENSG00000106069		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1944	protein-coding gene	gene with protein product	"""beta chimerin"", ""chimaerin 2"""	602857	"""chimerin (chimaerin) 2"""			8175705	Standard	XM_005249602		Approved	ARHGAP3, RhoGAP3	uc003szz.3	P52757	OTTHUMG00000023063	ENST00000222792.6:c.260G>A	7.37:g.29438072G>A	ENSP00000222792:p.Arg87Gln					CHN2_ENST00000435288.2_Missense_Mutation_p.R87Q|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.R162Q|CHN2_ENST00000546235.1_Missense_Mutation_p.R72Q|CHN2_ENST00000495789.2_Missense_Mutation_p.R100Q	p.R87Q	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN			5	790	+			87			SH2.		A4D1A2|B3VCF1|B3VCF2|B3VCF3|B3VCF7|B3VCG1|C9J7B0|E9PGE0|F8QPL9|Q2M203|Q75MM2	Missense_Mutation	SNP	ENST00000222792.6	37	c.260G>A	CCDS5420.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.839306	0.91117	.	.	ENSG00000106069	ENST00000439384;ENST00000539406;ENST00000222792;ENST00000435288;ENST00000409350;ENST00000495789;ENST00000546235	T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.44	5.44	0.79542	SH2 motif (4);	0.194439	0.52532	N	0.000063	T	0.77785	0.4182	M	0.67517	2.055	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.997;0.999;0.998;0.997	D;D;D;D;D	0.77557	0.985;0.979;0.99;0.988;0.979	T	0.74893	-0.3509	10	0.33141	T	0.24	.	18.8374	0.92168	0.0:0.0:1.0:0.0	.	72;100;162;87;87	B7Z1W9;B7Z1V0;F5H003;A4D1A2;P52757	.;.;.;.;CHIO_HUMAN	Q	162;162;87;87;100;100;72	ENSP00000409843:R162Q;ENSP00000444063:R162Q;ENSP00000222792:R87Q;ENSP00000400282:R87Q;ENSP00000386968:R100Q;ENSP00000438587:R100Q;ENSP00000442812:R72Q	ENSP00000222792:R87Q	R	+	2	0	CHN2	29404597	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.169000	0.94788	2.553000	0.86117	0.467000	0.42956	CGG		0.512	CHN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214228.2	NM_004067		19	60	0	0	0	1	0	19	60				
RIMS2	9699	broad.mit.edu	37	8	104948826	104948826	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:104948826C>T	ENST00000436393.2	+	11	1998	c.1757C>T	c.(1756-1758)cCc>cTc	p.P586L	RIMS2_ENST00000507740.1_Missense_Mutation_p.P600L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P808L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P647L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	870					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACATTGGAACCCAAATGGAAC	0.358										HNSCC(12;0.0054)																												ENST00000507740.1																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(1798-1800)cCc>cTc		regulating synaptic membrane exocytosis 2							103.0	96.0	98.0					8																	104948826		1828	4074	5902	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104948826C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1757C>T	8.37:g.104948826C>T	ENSP00000390665:p.Pro586Leu	HNSCC(12;0.0054)				RIMS2_ENST00000406091.3_Missense_Mutation_p.P808L|RIMS2_ENST00000436393.2_Missense_Mutation_p.P586L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P647L	p.P600L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		10	2035	+			870					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1799C>T		.	.	.	.	.	.	.	.	.	.	C	25.2	4.617054	0.87359	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	D;D;D;D;D;D;D	0.91295	-2.82;-2.82;-2.82;-2.82;-2.82;-2.82;-2.82	4.69	4.69	0.59074	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	D	0.97520	0.9188	H	0.98802	4.335	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.992;0.993;1.0;1.0;1.0;1.0	D	0.99701	1.1004	9	0.87932	D	0	.	17.9808	0.89140	0.0:1.0:0.0:0.0	.	870;870;586;647;600;808	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	L	808;823;808;870;600;647;600;600;586	ENSP00000427018:P808L;ENSP00000384892:P808L;ENSP00000425205:P600L;ENSP00000262231:P647L;ENSP00000423559:P600L;ENSP00000386228:P600L;ENSP00000390665:P586L	ENSP00000262231:P647L	P	+	2	0	RIMS2	105018002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.729000	0.84864	2.309000	0.77851	0.467000	0.42956	CCC		0.358	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		15	58	0	0	0	1	0	15	58				
PLEK	5341	broad.mit.edu	37	2	68607936	68607936	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:68607936C>T	ENST00000234313.7	+	3	459	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	94	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGCCTGGGTTCGGGATATCAA	0.468																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(280-282)Cgg>Tgg		pleckstrin							129.0	128.0	129.0					2																	68607936		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607936C>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.280C>T	2.37:g.68607936C>T	ENSP00000234313:p.Arg94Trp						p.R94W	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	459	+		Ovarian(717;0.0129)	94			PH 1.		B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.280C>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.060875	0.76074	.	.	ENSG00000115956	ENST00000234313	T	0.13089	2.62	5.8	3.88	0.44766	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.113630	0.64402	D	0.000013	T	0.31199	0.0789	L	0.56280	1.765	0.47584	D	0.999461	D;D	0.76494	0.999;0.999	D;D	0.69824	0.954;0.966	T	0.05566	-1.0877	10	0.66056	D	0.02	.	14.4071	0.67090	0.4333:0.5667:0.0:0.0	.	112;94	Q59GZ2;P08567	.;PLEK_HUMAN	W	94	ENSP00000234313:R94W	ENSP00000234313:R94W	R	+	1	2	PLEK	68461440	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.539000	0.36104	1.437000	0.47472	0.655000	0.94253	CGG		0.468	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		23	163	0	0	0	1	0	23	163				
FCGBP	8857	broad.mit.edu	37	19	40368659	40368659	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:40368659A>G	ENST00000221347.6	-	28	12696	c.12689T>C	c.(12688-12690)tTc>tCc	p.F4230S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4230	VWFD 10. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCATTAGGGAAGACCTGGTC	0.637																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(12688-12690)tTc>tCc		Fc fragment of IgG binding protein							34.0	37.0	36.0					19																	40368659		2203	4295	6498	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40368659A>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.12689T>C	19.37:g.40368659A>G	ENSP00000221347:p.Phe4230Ser						p.F4230S	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		28	12696	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4230			VWFD 10.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.12689T>C	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	A	8.257	0.810349	0.16537	.	.	ENSG00000090920	ENST00000221347	T	0.57436	0.4	3.92	2.87	0.33458	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.27524	0.0676	N	0.05592	-0.015	0.09310	N	1	B	0.28820	0.224	B	0.31495	0.131	T	0.17623	-1.0363	9	0.24483	T	0.36	.	2.4738	0.04571	0.5936:0.0:0.1989:0.2076	.	4230	Q9Y6R7	FCGBP_HUMAN	S	4230	ENSP00000221347:F4230S	ENSP00000221347:F4230S	F	-	2	0	FCGBP	45060499	0.000000	0.05858	0.997000	0.53966	0.131000	0.20780	0.018000	0.13422	0.648000	0.30732	0.254000	0.18369	TTC		0.637	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		14	168	0	0	0	1	0	14	168				
RBM33	155435	broad.mit.edu	37	7	155534530	155534530	+	Silent	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:155534530T>C	ENST00000401878.3	+	13	2265	c.2067T>C	c.(2065-2067)aaT>aaC	p.N689N		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	689							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CTTCTCAGAATGTAAGCAAGC	0.408																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(2065-2067)aaT>aaC		RNA binding motif protein 33							84.0	91.0	88.0					7																	155534530		2203	4300	6503	SO:0001819	synonymous_variant	155435						nucleotide binding|RNA binding	g.chr7:155534530T>C	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2067T>C	7.37:g.155534530T>C							p.N689N	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	13	2265	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	689					A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Silent	SNP	ENST00000401878.3	37	c.2067T>C	CCDS5941.2	.	.	.	.	.	.	.	.	.	.	T	5.347	0.249364	0.10130	.	.	ENSG00000184863	ENST00000392761	.	.	.	5.86	3.5	0.40072	.	.	.	.	.	T	0.58807	0.2148	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52238	-0.8602	4	.	.	.	.	8.9892	0.36012	0.0:0.2727:0.0:0.7273	.	.	.	.	T	461	.	.	M	+	2	0	RBM33	155227291	0.926000	0.31397	1.000000	0.80357	0.485000	0.33311	-0.085000	0.11250	0.485000	0.27652	0.482000	0.46254	ATG		0.408	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		68	82	0	0	0	1	0	68	82				
PIGR	5284	broad.mit.edu	37	1	207104874	207104874	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:207104874T>C	ENST00000356495.4	-	10	2350	c.2167A>G	c.(2167-2169)Aca>Gca	p.T723A	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	723					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TTGGTCTCTGTGGTGCTCTCA	0.483																																						ENST00000356495.4																			0				central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2167-2169)Aca>Gca		polymeric immunoglobulin receptor							214.0	190.0	198.0					1																	207104874		2203	4300	6503	SO:0001583	missense	5284					extracellular region|integral to plasma membrane	protein binding	g.chr1:207104874T>C		CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.2167A>G	1.37:g.207104874T>C	ENSP00000348888:p.Thr723Ala					PIGR_ENST00000487208.1_5'UTR	p.T723A	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN			10	2350	-			723					Q68D81|Q8IZY7	Missense_Mutation	SNP	ENST00000356495.4	37	c.2167A>G	CCDS1474.1	.	.	.	.	.	.	.	.	.	.	T	9.304	1.053906	0.19907	.	.	ENSG00000162896	ENST00000356495	T	0.14893	2.47	5.48	-5.15	0.02866	.	1.170160	0.06079	N	0.661506	T	0.11281	0.0275	N	0.16478	0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34403	-0.9830	10	0.17832	T	0.49	-24.9042	17.4008	0.87459	0.0:0.8646:0.0:0.1354	.	723	P01833	PIGR_HUMAN	A	723	ENSP00000348888:T723A	ENSP00000348888:T723A	T	-	1	0	PIGR	205171497	0.000000	0.05858	0.000000	0.03702	0.054000	0.15201	-0.361000	0.07612	-1.196000	0.02676	0.533000	0.62120	ACA		0.483	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088975.1	NM_002644		21	103	0	0	0	1	0	21	103				
IRX4	50805	broad.mit.edu	37	5	1878823	1878823	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:1878823C>A	ENST00000505790.1	-	6	1276	c.820G>T	c.(820-822)Gag>Tag	p.E274*	IRX4_ENST00000513692.1_Nonsense_Mutation_p.E274*|IRX4_ENST00000505938.1_5'Flank|IRX4_ENST00000231357.2_Nonsense_Mutation_p.E274*	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	274					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GGCTTCAGCTCGCACGCCGGC	0.697																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(820-822)Gag>Tag		iroquois homeobox 4							16.0	18.0	18.0					5																	1878823		2186	4280	6466	SO:0001587	stop_gained	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1878823C>A	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.820G>T	5.37:g.1878823C>A	ENSP00000423161:p.Glu274*					IRX4_ENST00000513692.1_Nonsense_Mutation_p.E274*|IRX4_ENST00000231357.2_Nonsense_Mutation_p.E274*	p.E274*	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	6	1276	-			274					B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Nonsense_Mutation	SNP	ENST00000505790.1	37	c.820G>T	CCDS3867.1	.	.	.	.	.	.	.	.	.	.	c	15.97	2.989682	0.53934	.	.	ENSG00000113430	ENST00000231357;ENST00000505790;ENST00000513692	.	.	.	3.64	1.81	0.25067	.	0.130010	0.50627	D	0.000110	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-19.1807	8.0171	0.30387	0.0:0.7468:0.161:0.0922	.	.	.	.	X	274	.	ENSP00000231357:E274X	E	-	1	0	IRX4	1931823	1.000000	0.71417	0.003000	0.11579	0.001000	0.01503	3.076000	0.50081	0.225000	0.20959	-0.267000	0.10333	GAG		0.697	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		8	26	1	0	0.000157383	1	0.000164101	8	26				
ACTN3	89	broad.mit.edu	37	11	66322613	66322613	+	RNA	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:66322613C>A	ENST00000502692.1	+	0	815				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						GGAAGGATGGCCTGGCCCTCT	0.662																																						ENST00000502692.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)							49.0	54.0	53.0					11																	66322613		2196	4295	6491			89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66322613C>A	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66322613C>A						ACTN3_ENST00000513398.1_RNA		NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN			0	815	+								A6NP77|Q4KKV2	RNA	SNP	ENST00000502692.1	37																																																																																						0.662	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		4	44	1	0	0.00024832	1	0.0002558	4	44				
BCKDK	10295	broad.mit.edu	37	16	31121723	31121723	+	Splice_Site	SNP	A	A	T	rs201839495		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:31121723A>T	ENST00000394951.1	+	8	1168	c.545A>T	c.(544-546)gAt>gTt	p.D182V	BCKDK_ENST00000287507.3_Splice_Site_p.D182V|BCKDK_ENST00000219794.6_Splice_Site_p.D182V|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Splice_Site_p.D182V			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	182	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				branched-chain amino acid catabolic process (GO:0009083)|cellular amino acid catabolic process (GO:0009063)|phosphorylation (GO:0016310)|protein phosphorylation (GO:0006468)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrion (GO:0005739)	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity (GO:0047323)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|stomach(1)	2						TCTTTACAGGATGAAAAGCTC	0.587																																						ENST00000394951.1																			0				breast(1)|stomach(1)	2						c.e8-1		branched chain ketoacid dehydrogenase kinase							72.0	76.0	75.0					16																	31121723		2197	4300	6497	SO:0001630	splice_region_variant	10295				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity	g.chr16:31121723A>T	AF026548	CCDS10705.1, CCDS45467.1, CCDS61917.1	16p11.2	2008-05-14			ENSG00000103507	ENSG00000103507			16902	protein-coding gene	gene with protein product		614901				1889817	Standard	NM_005881		Approved		uc002eaw.5	O14874	OTTHUMG00000047356	ENST00000394951.1:c.544-1A>T	16.37:g.31121723A>T						BCKDK_ENST00000219794.6_Splice_Site_p.D182_splice|BCKDK_ENST00000287507.3_Splice_Site_p.D182_splice|BCKDK_ENST00000394950.3_Splice_Site_p.D182_splice	p.D182_splice			O14874	BCKD_HUMAN			8	1168	+			182			Histidine kinase.		A8MY43|Q6FGL4|Q96G95|Q96IN5	Splice_Site	SNP	ENST00000394951.1	37	c.543_splice	CCDS10705.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.262167	0.59431	.	.	ENSG00000103507	ENST00000394951;ENST00000219794;ENST00000394950;ENST00000287507	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.56	5.56	0.83823	Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (3);	0.048422	0.85682	D	0.000000	T	0.30823	0.0777	M	0.63843	1.955	0.80722	D	1	P;P	0.39352	0.669;0.669	B;B	0.38106	0.265;0.265	T	0.07028	-1.0794	10	0.14656	T	0.56	-17.6064	13.5192	0.61557	1.0:0.0:0.0:0.0	.	182;182	Q96G95;O14874	.;BCKD_HUMAN	V	182	ENSP00000378405:D182V;ENSP00000219794:D182V;ENSP00000378404:D182V;ENSP00000287507:D182V	ENSP00000219794:D182V	D	+	2	0	BCKDK	31029224	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	6.444000	0.73452	2.241000	0.73720	0.533000	0.62120	GAT		0.587	BCKDK-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108514.1	NM_005881	Missense_Mutation	25	71	0	0	0	1	0	25	71				
PODXL2	50512	broad.mit.edu	37	3	127379826	127379826	+	Missense_Mutation	SNP	G	G	A	rs35388535	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:127379826G>A	ENST00000342480.6	+	3	994	c.955G>A	c.(955-957)Gag>Aag	p.E319K		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	319					leukocyte tethering or rolling (GO:0050901)	integral component of plasma membrane (GO:0005887)	glycosaminoglycan binding (GO:0005539)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGTGGGGCCGAGCACCCAGA	0.602																																						ENST00000342480.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						c.(955-957)Gag>Aag		podocalyxin-like 2		G	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	70.0	58.0	62.0		955	1.5	0.0	3	dbSNP_126	62	7,8593	5.7+/-21.5	0,7,4293	yes	missense	PODXL2	NM_015720.2	56	0,8,6495	AA,AG,GG		0.0814,0.0227,0.0615	benign	319/606	127379826	8,12998	2203	4300	6503	SO:0001583	missense	50512				leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding	g.chr3:127379826G>A	AF219137	CCDS3044.1	3q21.3	2005-02-18			ENSG00000114631	ENSG00000114631			17936	protein-coding gene	gene with protein product	"""endoglycan"""					10722749	Standard	NM_015720		Approved	PODLX2, endoglycan	uc003ejq.3	Q9NZ53	OTTHUMG00000159642	ENST00000342480.6:c.955G>A	3.37:g.127379826G>A	ENSP00000345359:p.Glu319Lys						p.E319K	NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN			3	994	+			319					Q6UVY4|Q8WUV6	Missense_Mutation	SNP	ENST00000342480.6	37	c.955G>A	CCDS3044.1	.	.	.	.	.	.	.	.	.	.	G	10.99	1.507383	0.27036	2.27E-4	8.14E-4	ENSG00000114631	ENST00000342480;ENST00000302192	T	0.26660	1.72	4.25	1.45	0.22620	.	0.829696	0.10969	N	0.614046	T	0.14356	0.0347	L	0.29908	0.895	0.09310	N	1	P	0.36282	0.546	B	0.26864	0.074	T	0.16541	-1.0399	10	0.62326	D	0.03	-11.6823	5.388	0.16227	0.4354:0.0:0.5646:0.0	rs35388535	319	Q9NZ53	PDXL2_HUMAN	K	319	ENSP00000345359:E319K	ENSP00000304498:E319K	E	+	1	0	PODXL2	128862516	0.182000	0.23173	0.002000	0.10522	0.095000	0.18619	1.653000	0.37323	0.518000	0.28383	0.491000	0.48974	GAG		0.602	PODXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356638.1	NM_015720		25	74	0	0	0	1	0	25	74				
PEX3	8504	broad.mit.edu	37	6	143810326	143810326	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:143810326A>C	ENST00000367591.4	+	12	1148	c.1085A>C	c.(1084-1086)tAt>tCt	p.Y362S	RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	362					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GCTAATGTGTATGAAGCTTTT	0.328																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(1084-1086)tAt>tCt		peroxisomal biogenesis factor 3							153.0	154.0	154.0					6																	143810326		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143810326A>C	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.1085A>C	6.37:g.143810326A>C	ENSP00000356563:p.Tyr362Ser					RP1-20N2.6_ENST00000591892.1_RNA	p.Y362S	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	12	1148	+			362					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.1085A>C	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	A	18.76	3.693174	0.68271	.	.	ENSG00000034693	ENST00000367591	T	0.70869	-0.52	5.48	5.48	0.80851	.	0.221367	0.48767	D	0.000179	T	0.82240	0.4994	M	0.82193	2.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85496	0.1188	10	0.87932	D	0	-12.9847	14.851	0.70297	1.0:0.0:0.0:0.0	.	362	P56589	PEX3_HUMAN	S	362	ENSP00000356563:Y362S	ENSP00000356563:Y362S	Y	+	2	0	PEX3	143852019	1.000000	0.71417	0.955000	0.39395	0.829000	0.46940	7.396000	0.79891	2.209000	0.71365	0.528000	0.53228	TAT		0.328	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			15	62	0	0	0	1	0	15	62				
ORAI1	84876	broad.mit.edu	37	12	122079278	122079278	+	Missense_Mutation	SNP	C	C	A	rs371645148		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:122079278C>A	ENST00000330079.7	+	2	834	c.641C>A	c.(640-642)aCc>aAc	p.T214N		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	212					blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		CCAAGGCCCACCAGCAAGCCC	0.667																																						ENST00000330079.7																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11						c.(640-642)aCc>aAc		ORAI calcium release-activated calcium modulator 1							31.0	42.0	38.0					12																	122079278		2197	4297	6494	SO:0001583	missense	84876				platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr12:122079278C>A	AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.641C>A	12.37:g.122079278C>A	ENSP00000328216:p.Thr214Asn						p.T214N	NM_032790.3	NP_116179.2	Q96D31	CRCM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)	2	834	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		212					Q3MHV3|Q6DHX2|Q96BP7|Q96K71	Missense_Mutation	SNP	ENST00000330079.7	37	c.641C>A	CCDS41851.1	.	.	.	.	.	.	.	.	.	.	C	9.000	0.979975	0.18812	.	.	ENSG00000182500	ENST00000330079;ENST00000537188	T;T	0.44083	1.49;0.93	4.93	4.93	0.64822	.	0.501568	0.19897	N	0.103610	T	0.31857	0.0810	L	0.29908	0.895	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.14559	-1.0468	10	0.46703	T	0.11	-49.6779	12.0223	0.53350	0.1339:0.7365:0.1295:0.0	.	212	Q96D31	CRCM1_HUMAN	N	214;109	ENSP00000328216:T214N;ENSP00000441198:T109N	ENSP00000328216:T214N	T	+	2	0	ORAI1	120563661	0.815000	0.29118	0.983000	0.44433	0.741000	0.42261	0.495000	0.22483	2.676000	0.91093	0.467000	0.42956	ACC		0.667	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790		11	44	1	0	9.70103e-10	1	1.09859e-09	11	44				
MYH4	4622	broad.mit.edu	37	17	10356159	10356159	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:10356159C>T	ENST00000255381.2	-	25	3312	c.3202G>A	c.(3202-3204)Gaa>Aaa	p.E1068K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1068					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATTGTGGATTCTTGGGCCAAT	0.358																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(3202-3204)Gaa>Aaa		myosin, heavy chain 4, skeletal muscle							212.0	200.0	204.0					17																	10356159		2203	4299	6502	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356159C>T		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.3202G>A	17.37:g.10356159C>T	ENSP00000255381:p.Glu1068Lys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1068K	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			25	3312	-			1068						Missense_Mutation	SNP	ENST00000255381.2	37	c.3202G>A	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.761612	0.89932	.	.	ENSG00000141048	ENST00000255381	D	0.94650	-3.48	5.42	5.42	0.78866	.	0.191422	0.24788	U	0.035583	D	0.97949	0.9325	H	0.97131	3.945	0.58432	D	0.999999	D	0.59357	0.985	P	0.55871	0.786	D	0.99060	1.0830	10	0.72032	D	0.01	.	19.5718	0.95423	0.0:1.0:0.0:0.0	.	1068	Q9Y623	MYH4_HUMAN	K	1068	ENSP00000255381:E1068K	ENSP00000255381:E1068K	E	-	1	0	MYH4	10296884	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.648000	0.83479	2.699000	0.92147	0.563000	0.77884	GAA		0.358	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		23	100	0	0	0	1	0	23	100				
ACOXL	55289	broad.mit.edu	37	2	111850481	111850481	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:111850481C>T	ENST00000389811.4	+	18	1794	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	ACOXL_ENST00000439055.1_Missense_Mutation_p.R494W			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	524					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GTTTCAGGAGCGGGCCTGGTA	0.423																																						ENST00000389811.4																			0				kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						c.(1570-1572)Cgg>Tgg		acyl-CoA oxidase-like							111.0	110.0	110.0					2																	111850481		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111850481C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1570C>T	2.37:g.111850481C>T	ENSP00000374461:p.Arg524Trp					ACOXL_ENST00000439055.1_Missense_Mutation_p.R494W	p.R524W			Q9NUZ1	ACOXL_HUMAN			18	1794	+			524					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.1570C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.11|19.11	3.764635|3.764635	0.69878|0.69878	.|.	.|.	ENSG00000153093|ENSG00000153093	ENST00000441974|ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.97|5.97	1.49|1.49	0.22878|0.22878	.|Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	.|0.097805	.|0.41294	.|N	.|0.000903	T|T	0.54615|0.54615	0.1869|0.1869	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.998;0.998;1.0	.|P;P;D	.|0.69479	.|0.861;0.781;0.964	T|T	0.52200|0.52200	-0.8607|-0.8607	6|10	0.87932|0.66056	D|D	0|0.02	-42.1978|-42.1978	5.3338|5.3338	0.15947|0.15947	0.4921:0.3401:0.0:0.1677|0.4921:0.3401:0.0:0.1677	.|.	.|494;494;524	.|E9PB20;Q9NUZ1-2;Q9NUZ1	.|.;.;ACOXL_HUMAN	V|W	87|524;494;345;332	.|ENSP00000374461:R524W;ENSP00000407761:R494W;ENSP00000387832:R332W	ENSP00000393823:A87V|ENSP00000374461:R524W	A|R	+|+	2|1	0|2	ACOXL|ACOXL	111566952|111566952	0.995000|0.995000	0.38212|0.38212	0.949000|0.949000	0.38748|0.38748	0.900000|0.900000	0.52787|0.52787	0.053000|0.053000	0.14184|0.14184	0.319000|0.319000	0.23209|0.23209	-0.119000|-0.119000	0.15052|0.15052	GCG|CGG		0.423	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308		27	69	0	0	0	1	0	27	69				
CNTNAP5	129684	broad.mit.edu	37	2	125367399	125367399	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:125367399A>T	ENST00000431078.1	+	12	2139	c.1775A>T	c.(1774-1776)gAg>gTg	p.E592V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	592	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAATCCTGCGAGGTGTACAGG	0.512																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1774-1776)gAg>gTg		contactin associated protein-like 5							64.0	62.0	63.0					2																	125367399		1865	4108	5973	SO:0001583	missense	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125367399A>T	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1775A>T	2.37:g.125367399A>T	ENSP00000399013:p.Glu592Val						p.E592V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	12	2139	+			592			Fibrinogen C-terminal.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	ENST00000431078.1	37	c.1775A>T	CCDS46401.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.917506	0.92249	.	.	ENSG00000155052	ENST00000431078	T	0.18960	2.18	5.55	5.55	0.83447	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.50627	D	0.000119	T	0.56277	0.1974	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.66889	-0.5809	10	0.62326	D	0.03	.	14.8113	0.69996	1.0:0.0:0.0:0.0	.	592	Q8WYK1	CNTP5_HUMAN	V	592	ENSP00000399013:E592V	ENSP00000399013:E592V	E	+	2	0	CNTNAP5	125083869	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.414000	0.90238	2.234000	0.73211	0.533000	0.62120	GAG		0.512	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			39	77	0	0	0	1	0	39	77				
NINL	22981	broad.mit.edu	37	20	25450670	25450670	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:25450670G>A	ENST00000278886.6	-	18	3383	c.3310C>T	c.(3310-3312)Cgg>Tgg	p.R1104W	NINL_ENST00000422516.1_Missense_Mutation_p.R755W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1104					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCTCTTGCCGAACCCTTCCC	0.507																																						ENST00000278886.6																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(3310-3312)Cgg>Tgg		ninein-like							186.0	180.0	182.0					20																	25450670		2203	4300	6503	SO:0001583	missense	22981				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	g.chr20:25450670G>A		CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.3310C>T	20.37:g.25450670G>A	ENSP00000278886:p.Arg1104Trp					NINL_ENST00000422516.1_Missense_Mutation_p.R755W	p.R1104W	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN			18	3383	-			1104					A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	c.3310C>T	CCDS33452.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.88|15.88	2.963958|2.963958	0.53507|0.53507	.|.	.|.	ENSG00000101004|ENSG00000101004	ENST00000278886;ENST00000422516|ENST00000336104	T;T|.	0.33865|.	3.34;1.39|.	4.66|4.66	4.66|4.66	0.58398|0.58398	.|.	0.075189|.	0.53938|.	D|.	0.000050|.	T|T	0.37865|0.37865	0.1019|0.1019	N|N	0.22421|0.22421	0.69|0.69	0.27461|0.27461	N|N	0.953146|0.953146	D;D|.	0.89917|.	0.996;1.0|.	P;D|.	0.64595|.	0.533;0.927|.	T|T	0.25222|0.25222	-1.0138|-1.0138	10|5	0.66056|.	D|.	0.02|.	-18.7175|-18.7175	16.4789|16.4789	0.84152|0.84152	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	755;1104|.	Q9Y2I6-2;Q9Y2I6|.	.;NINL_HUMAN|.	W|L	1104;755|56	ENSP00000278886:R1104W;ENSP00000410431:R755W|.	ENSP00000278886:R1104W|.	R|S	-|-	1|2	2|0	NINL|NINL	25398670|25398670	1.000000|1.000000	0.71417|0.71417	0.887000|0.887000	0.34795|0.34795	0.026000|0.026000	0.11368|0.11368	5.113000|5.113000	0.64640|0.64640	2.407000|2.407000	0.81776|0.81776	0.655000|0.655000	0.94253|0.94253	CGG|TCG		0.507	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176		34	178	0	0	0	1	0	34	178				
SLC4A7	9497	broad.mit.edu	37	3	27442319	27442319	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:27442319A>G	ENST00000295736.5	-	16	2406	c.2336T>C	c.(2335-2337)cTa>cCa	p.L779P	SLC4A7_ENST00000455077.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L771P|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L788P|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L664P|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L655P|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L329P	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	779					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCATTGTGCTAGAGTTTCATT	0.328																																						ENST00000295736.5																			0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(2335-2337)cTa>cCa		solute carrier family 4, sodium bicarbonate cotransporter, member 7							157.0	155.0	156.0					3																	27442319		2203	4299	6502	SO:0001583	missense	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27442319A>G	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.2336T>C	3.37:g.27442319A>G	ENSP00000295736:p.Leu779Pro					SLC4A7_ENST00000455077.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L771P|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L660P|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L329P|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L655P|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L664P|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L788P|SLC4A7_ENST00000445684.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L775P|SLC4A7_ENST00000425128.2_3'UTR	p.L779P	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN			16	2406	-			779					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	ENST00000295736.5	37	c.2336T>C	CCDS33721.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.734445	0.69189	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.42	5.42	0.78866	Bicarbonate transporter, C-terminal (1);	0.492548	0.20772	N	0.085965	D	0.87030	0.6076	M	0.77486	2.375	0.80722	D	1	P;P;B;P;P;P;P;P;P	0.44006	0.686;0.605;0.418;0.71;0.824;0.676;0.551;0.686;0.605	P;P;P;P;P;P;P;P;P	0.59643	0.781;0.832;0.701;0.781;0.832;0.776;0.741;0.781;0.861	D	0.87018	0.2127	10	0.48119	T	0.1	.	15.4532	0.75294	1.0:0.0:0.0:0.0	.	775;660;771;775;788;329;655;779;660	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	P	330;779;655;788;775;660;771;660;775;664;329;675	ENSP00000411031:L330P;ENSP00000295736:L779P;ENSP00000416368:L655P;ENSP00000390394:L788P;ENSP00000414797:L775P;ENSP00000394252:L660P;ENSP00000406605:L771P;ENSP00000407382:L660P;ENSP00000406804:L775P;ENSP00000395336:L664P;ENSP00000373429:L329P;ENSP00000388703:L675P	ENSP00000295736:L779P	L	-	2	0	SLC4A7	27417323	0.972000	0.33761	0.857000	0.33713	0.582000	0.36321	7.383000	0.79741	2.066000	0.61787	0.377000	0.23210	CTA		0.328	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		18	39	0	0	0	1	0	18	39				
LRRC37A3	374819	broad.mit.edu	37	17	62856536	62856536	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:62856536G>A	ENST00000584306.1	-	11	4258	c.3728C>T	c.(3727-3729)gCa>gTa	p.A1243V	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A220V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1243V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A281V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A361V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1243						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGACTGCTGCCTTATGCTC	0.567																																						ENST00000584306.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3727-3729)gCa>gTa		leucine rich repeat containing 37, member A3							36.0	43.0	41.0					17																	62856536		2202	4290	6492	SO:0001583	missense	374819					integral to membrane		g.chr17:62856536G>A	AB011135	CCDS32708.1	17q24.1	2008-10-22			ENSG00000176809	ENSG00000176809			32427	protein-coding gene	gene with protein product							Standard	NM_199340		Approved	FLJ34306, KIAA0563	uc031rbi.1	O60309	OTTHUMG00000132307	ENST00000584306.1:c.3728C>T	17.37:g.62856536G>A	ENSP00000464535:p.Ala1243Val					LRRC37A3_ENST00000334962.5_Missense_Mutation_p.A220V|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.A281V|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.A361V|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.A1243V	p.A1243V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN			11	4258	-			1243					Q49A01|Q49A80|Q8NB33	Missense_Mutation	SNP	ENST00000584306.1	37	c.3728C>T	CCDS32708.1	.	.	.	.	.	.	.	.	.	.	.	12.92	2.083163	0.36758	.	.	ENSG00000176809	ENST00000339474;ENST00000400877;ENST00000334962;ENST00000319651	T;T;T	0.60424	1.41;1.42;0.19	2.24	-0.821	0.10822	.	.	.	.	.	T	0.63931	0.2553	L	0.59436	1.845	0.09310	N	1	P;D	0.63880	0.533;0.993	B;D	0.65443	0.102;0.935	T	0.52837	-0.8522	9	0.52906	T	0.07	.	4.4233	0.11492	0.0:0.3863:0.3851:0.2286	.	361;1243	B4DG20;O60309	.;L37A3_HUMAN	V	324;281;220;1243	ENSP00000383674:A281V;ENSP00000335617:A220V;ENSP00000325713:A1243V	ENSP00000325713:A1243V	A	-	2	0	LRRC37A3	60286998	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.127000	0.15790	-0.306000	0.08818	0.298000	0.19748	GCA		0.567	LRRC37A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445377.1	NM_199340		33	80	0	0	0	1	0	33	80				
A4GALT	53947	broad.mit.edu	37	22	43089136	43089136	+	Silent	SNP	G	G	A	rs372559008		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:43089136G>A	ENST00000401850.1	-	2	1311	c.822C>T	c.(820-822)cgC>cgT	p.R274R	A4GALT_ENST00000465765.2_5'Flank|A4GALT_ENST00000249005.2_Silent_p.R274R|A4GALT_ENST00000381278.3_Silent_p.R274R			Q9NPC4	A4GAT_HUMAN	alpha 1,4-galactosyltransferase	274					globoside biosynthetic process (GO:0001576)|glycosphingolipid biosynthetic process (GO:0006688)|plasma membrane organization (GO:0007009)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	galactosyltransferase activity (GO:0008378)|lactosylceramide 4-alpha-galactosyltransferase activity (GO:0050512)|toxic substance binding (GO:0015643)	p.R274R(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TGGTGACGCCGCGGCAGGCGC	0.667																																						ENST00000401850.1																			1	Substitution - coding silent(1)	p.R274R(1)	large_intestine(1)	NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						c.(820-822)cgC>cgT		alpha 1,4-galactosyltransferase		G		2,4402		0,2,2200	28.0	24.0	25.0		822	-4.9	0.9	22		25	0,8596		0,0,4298	no	coding-synonymous	A4GALT	NM_017436.4		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		274/354	43089136	2,12998	2202	4298	6500	SO:0001819	synonymous_variant	53947				glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	g.chr22:43089136G>A		CCDS14041.1	22q13.2	2014-07-18	2008-07-31		ENSG00000128274	ENSG00000128274	2.4.1.228		18149	protein-coding gene	gene with protein product	"""Gb3 synthase"", ""CD77 synthase"", ""globotriaosylceramide synthase"", ""lactosylceramide 4-alpha-galactosyltransferase"""	607922	"""alpha 1,4-galactosyltransferase (globotriaosylceramide synthase, P blood group)"""			10854428	Standard	XM_005261643		Approved	A14GALT, Gb3S, P(k)	uc003bdb.3	Q9NPC4	OTTHUMG00000150744	ENST00000401850.1:c.822C>T	22.37:g.43089136G>A						A4GALT_ENST00000249005.2_Silent_p.R274R|A4GALT_ENST00000381278.3_Silent_p.R274R	p.R274R			Q9NPC4	A4GAT_HUMAN			2	1311	-			274					B2R7C4|Q9P1X5	Silent	SNP	ENST00000401850.1	37	c.822C>T	CCDS14041.1																																																																																				0.667	A4GALT-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319917.1	NM_017436		5	17	0	0	0	1	0	5	17				
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T	rs199688784	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462									tubulin, beta pseudogene 5																		ACAACTGGGCCAAGGGACGCT	0.577																																						ENST00000503395.1																			0																																																			643224							g.chr9:141070687C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070687C>T														0	1462	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	18	0	0	0	1	0	4	18				
MAGEE2	139599	broad.mit.edu	37	X	75004845	75004845	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:75004845C>G	ENST00000373359.2	-	1	234	c.42G>C	c.(40-42)gaG>gaC	p.E14D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	14										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCAGTGATCTCTGCGCTAC	0.592																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(40-42)gaG>gaC		melanoma antigen family E, 2							43.0	31.0	35.0					X																	75004845		2202	4296	6498	SO:0001583	missense	139599							g.chrX:75004845C>G	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.42G>C	X.37:g.75004845C>G	ENSP00000362457:p.Glu14Asp						p.E14D	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	234	-			14					Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.42G>C	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	9.338	1.062311	0.19987	.	.	ENSG00000186675	ENST00000373359	T	0.03831	3.79	2.86	1.98	0.26296	.	.	.	.	.	T	0.03564	0.0102	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.41324	-0.9515	9	0.42905	T	0.14	.	7.1634	0.25677	0.0:0.7292:0.2708:0.0	.	14	Q8TD90	MAGE2_HUMAN	D	14	ENSP00000362457:E14D	ENSP00000362457:E14D	E	-	3	2	MAGEE2	74921570	0.989000	0.36119	0.150000	0.22450	0.042000	0.13812	0.901000	0.28445	0.609000	0.30018	0.506000	0.49869	GAG		0.592	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		20	21	0	0	0	1	0	20	21				
PCDH11X	27328	broad.mit.edu	37	X	91873684	91873684	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:91873684G>T	ENST00000373094.1	+	7	4634	c.3789G>T	c.(3787-3789)caG>caT	p.Q1263H	PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1245H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1253H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1255H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1263					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTCTGCCACAGGTTATTGCCC	0.567																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(3787-3789)caG>caT		protocadherin 11 X-linked							226.0	197.0	207.0					X																	91873684		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91873684G>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3789G>T	X.37:g.91873684G>T	ENSP00000362186:p.Gln1263His					PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1245H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1226H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1253H|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1255H|PCDH11X_ENST00000504220.1_3'UTR	p.Q1263H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			7	4634	+			1263					A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.3789G>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365124	0.24684	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.56103	0.51;0.52;0.49;0.49;0.52;0.48	3.61	1.6	0.23607	.	.	.	.	.	T	0.48095	0.1481	N	0.24115	0.695	0.24522	N	0.994153	D;D;D;D;D	0.64830	0.994;0.994;0.994;0.994;0.989	P;P;P;P;P	0.56865	0.808;0.808;0.808;0.808;0.648	T	0.33979	-0.9847	9	0.87932	D	0	.	5.3429	0.15994	0.4788:0.0:0.5212:0.0	.	1226;1245;1255;1253;1263	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	H	1263;1253;1226;1245;1255;1263;1226	ENSP00000362186:Q1263H;ENSP00000362189:Q1253H;ENSP00000362180:Q1226H;ENSP00000355105:Q1245H;ENSP00000384758:Q1255H;ENSP00000298274:Q1226H	ENSP00000298274:Q1226H	Q	+	3	2	PCDH11X	91760340	0.847000	0.29606	0.899000	0.35326	0.029000	0.11900	0.816000	0.27267	0.150000	0.19136	0.370000	0.22315	CAG		0.567	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		82	66	1	0	1.8615e-32	1	2.29005e-32	82	66				
PAK3	5063	broad.mit.edu	37	X	110406906	110406906	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:110406906G>A	ENST00000372010.1	+	11	1204	c.762G>A	c.(760-762)cgG>cgA	p.R254R	PAK3_ENST00000372007.5_Silent_p.R239R|PAK3_ENST00000519681.1_Silent_p.R260R|PAK3_ENST00000446737.1_Silent_p.R239R|PAK3_ENST00000262836.4_Silent_p.R254R|PAK3_ENST00000360648.4_Silent_p.R275R|PAK3_ENST00000518291.1_Silent_p.R275R|PAK3_ENST00000425146.1_Silent_p.R239R|PAK3_ENST00000417227.1_Silent_p.R260R			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	254	Linker.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						ACACAGATCGGCAAAGAAAAA	0.418										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(778-780)cgG>cgA		p21 protein (Cdc42/Rac)-activated kinase 3							130.0	122.0	125.0					X																	110406906		2203	4299	6502	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110406906G>A	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.762G>A	X.37:g.110406906G>A		TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Silent_p.R239R|PAK3_ENST00000425146.1_Silent_p.R239R|PAK3_ENST00000262836.4_Silent_p.R254R|PAK3_ENST00000372007.4_Silent_p.R239R|PAK3_ENST00000372010.1_Silent_p.R254R|PAK3_ENST00000417227.1_Silent_p.R260R|PAK3_ENST00000518291.1_Silent_p.R275R|PAK3_ENST00000360648.4_Silent_p.R275R	p.R260R			O75914	PAK3_HUMAN			11	1222	+			254			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.780G>A	CCDS48153.1																																																																																				0.418	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		23	58	0	0	0	1	0	23	58				
LENG9	94059	broad.mit.edu	37	19	54973894	54973894	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:54973894T>A	ENST00000333834.4	-	1	1000	c.882A>T	c.(880-882)gaA>gaT	p.E294D		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	294							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCACTCGGCTTCTGTCGTCT	0.662																																						ENST00000333834.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(880-882)gaA>gaT		leukocyte receptor cluster (LRC) member 9							36.0	39.0	38.0					19																	54973894		2203	4300	6503	SO:0001583	missense	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973894T>A	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.882A>T	19.37:g.54973894T>A	ENSP00000331647:p.Glu294Asp						p.E294D	NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	1000	-	Ovarian(34;0.19)		294					B2VAM3	Missense_Mutation	SNP	ENST00000333834.4	37	c.882A>T	CCDS12895.2	.	.	.	.	.	.	.	.	.	.	T	9.637	1.137945	0.21123	.	.	ENSG00000182909	ENST00000333834	T	0.33216	1.42	3.36	-4.19	0.03835	.	1.254770	0.06598	U	0.753161	T	0.13329	0.0323	N	0.19112	0.55	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.25916	-1.0118	10	0.19590	T	0.45	-1.2564	0.0999	0.00047	0.3233:0.1821:0.1648:0.3297	.	294	Q96B70	LENG9_HUMAN	D	294	ENSP00000331647:E294D	ENSP00000331647:E294D	E	-	3	2	LENG9	59665706	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.121000	0.03270	-0.727000	0.04888	0.254000	0.18369	GAA		0.662	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	NM_198988		11	67	0	0	0	1	0	11	67				
SYNE1	23345	broad.mit.edu	37	6	152841661	152841661	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:152841661C>T	ENST00000367255.5	-	6	843	c.242G>A	c.(241-243)cGc>cAc	p.R81H	SYNE1_ENST00000423061.1_Missense_Mutation_p.R81H|SYNE1_ENST00000367253.4_Missense_Mutation_p.R81H|SYNE1_ENST00000466159.2_Missense_Mutation_p.R81H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R81H|SYNE1_ENST00000413186.2_Missense_Mutation_p.R81H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R81H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R81H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R81H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	81	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				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)		CTTCATCCGGCGTCCTTGTTC	0.388										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.(241-243)cGc>cAc		spectrin repeat containing, nuclear envelope 1							124.0	123.0	123.0					6																	152841661		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.chr6:152841661C>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.242G>A	6.37:g.152841661C>T	ENSP00000356224:p.Arg81His	HNSCC(10;0.0054)				SYNE1_ENST00000413186.2_Missense_Mutation_p.R81H|SYNE1_ENST00000367253.4_Missense_Mutation_p.R81H|SYNE1_ENST00000466159.2_Missense_Mutation_p.R81H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R81H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R81H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R81H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R81H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R81H	p.R81H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	6	843	-		Ovarian(120;0.0955)	81			Actin-binding.|CH 1.		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.242G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	17.18	3.323514	0.60634	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000466159;ENST00000537750	D;D;D;D;D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.55	4.67	0.58626	Calponin homology domain (5);	0.098492	0.45361	N	0.000363	D	0.92811	0.7714	M	0.85945	2.785	0.80722	D	1	B;B;B;B;B	0.28933	0.228;0.142;0.049;0.142;0.117	B;B;B;B;B	0.27608	0.081;0.081;0.03;0.081;0.048	D	0.91800	0.5451	10	0.33940	T	0.23	.	13.8176	0.63301	0.0:0.9251:0.0:0.0749	.	81;81;81;81;81	B3W695;Q8NF91;F5H4Q0;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.	H	81	ENSP00000356224:R81H;ENSP00000396024:R81H;ENSP00000265368:R81H;ENSP00000390975:R81H;ENSP00000341887:R81H;ENSP00000356222:R81H;ENSP00000356217:R81H;ENSP00000414510:R81H;ENSP00000446021:R81H;ENSP00000441264:R81H	ENSP00000265368:R81H	R	-	2	0	SYNE1	152883354	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	3.508000	0.53378	1.453000	0.47775	0.650000	0.86243	CGC		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	89	0	0	0	1	0	9	89				
F5	2153	broad.mit.edu	37	1	169526091	169526091	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:169526091C>A	ENST00000367797.3	-	6	946	c.745G>T	c.(745-747)Gcc>Tcc	p.A249S	F5_ENST00000546081.1_Missense_Mutation_p.A112S|F5_ENST00000367796.3_Missense_Mutation_p.A249S	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	249	F5/8 type A 1.|Plastocyanin-like 2.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGGTCATGGGCACAAACTGTT	0.463																																						ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(745-747)Gcc>Tcc		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						64.0	55.0	58.0					1																	169526091		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169526091C>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.745G>T	1.37:g.169526091C>A	ENSP00000356771:p.Ala249Ser					F5_ENST00000546081.1_Missense_Mutation_p.A112S|F5_ENST00000367797.3_Missense_Mutation_p.A249S	p.A249S			P12259	FA5_HUMAN			6	946	-	all_hematologic(923;0.208)		249			F5/8 type A 1.|Plastocyanin-like 2.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.745G>T	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270939	0.59540	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.99778	-6.73;-6.73;-6.73	6.07	6.07	0.98685	Cupredoxin (2);	0.196194	0.52532	D	0.000069	D	0.99108	0.9693	M	0.74258	2.255	0.28802	N	0.898699	D	0.53312	0.959	P	0.47744	0.556	D	0.99889	1.1130	9	0.15066	T	0.55	-23.1495	11.2853	0.49218	0.1283:0.8046:0.0:0.0671	.	249	P12259	FA5_HUMAN	S	249;249;112	ENSP00000356771:A249S;ENSP00000356770:A249S;ENSP00000439664:A112S	ENSP00000356770:A249S	A	-	1	0	F5	167792715	1.000000	0.71417	1.000000	0.80357	0.661000	0.39034	1.861000	0.39438	2.890000	0.99128	0.650000	0.86243	GCC		0.463	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		14	23	1	0	1.5842e-08	1	1.74773e-08	14	23				
EPB41L2	2037	broad.mit.edu	37	6	131184794	131184794	+	Missense_Mutation	SNP	T	T	A	rs374970416		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:131184794T>A	ENST00000337057.3	-	18	3075	c.2894A>T	c.(2893-2895)gAt>gTt	p.D965V	EPB41L2_ENST00000525271.1_Missense_Mutation_p.D633V|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D812V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D707V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D965V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D666V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D633V|EPB41L2_ENST00000524581.1_Missense_Mutation_p.D343V|EPB41L2_ENST00000530757.1_Missense_Mutation_p.D161V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D707V|EPB41L2_ENST00000531410.1_Missense_Mutation_p.D86V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D771V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	965	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATGATCAATATCTCCATCTCC	0.358																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2893-2895)gAt>gTt		erythrocyte membrane protein band 4.1-like 2							177.0	144.0	155.0					6																	131184794		2203	4300	6503	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131184794T>A	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2894A>T	6.37:g.131184794T>A	ENSP00000338481:p.Asp965Val					EPB41L2_ENST00000530481.1_Missense_Mutation_p.D812V|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D666V|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D707V|EPB41L2_ENST00000524581.1_Missense_Mutation_p.D343V|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D965V|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D707V|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D771V|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D895V|EPB41L2_ENST00000530757.1_Missense_Mutation_p.D161V|EPB41L2_ENST00000531410.1_Missense_Mutation_p.D86V|EPB41L2_ENST00000525271.1_Missense_Mutation_p.D633V|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D633V	p.D965V	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	18	3075	-	Breast(56;0.0639)		965			Carboxyl-terminal (CTD).		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2894A>T	CCDS5141.1	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945008	0.53079	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208;ENST00000527017	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	6.0	4.83	0.62350	Band 4.1, C-terminal (1);	0.043842	0.85682	D	0.000000	D	0.89921	0.6855	M	0.88906	2.99	0.80722	D	1	D;P;D;D;P;D	0.76494	0.996;0.941;0.958;0.977;0.951;0.999	D;P;P;P;D;D	0.74674	0.984;0.811;0.828;0.904;0.939;0.982	D	0.91721	0.5389	10	0.87932	D	0	.	13.1673	0.59579	0.0:0.0:0.1378:0.8622	.	633;812;965;707;343;132	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	V	86;707;812;707;965;161;633;965;895;343;633;666;771;895;229	ENSP00000434596:D86V;ENSP00000434308:D707V;ENSP00000434576:D812V;ENSP00000402041:D707V;ENSP00000338481:D965V;ENSP00000436349:D161V;ENSP00000376222:D633V;ENSP00000357110:D965V;ENSP00000436348:D895V;ENSP00000437207:D343V;ENSP00000432803:D633V;ENSP00000431988:D666V;ENSP00000431647:D771V;ENSP00000436641:D895V;ENSP00000432949:D229V	ENSP00000338481:D965V	D	-	2	0	EPB41L2	131226487	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.973000	0.70456	1.072000	0.40860	0.533000	0.62120	GAT		0.358	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			4	36	0	0	0	1	0	4	36				
MUC2	4583	broad.mit.edu	37	11	1103214	1103214	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:1103214A>G	ENST00000441003.2	+	46	7991	c.7964A>G	c.(7963-7965)aAg>aGg	p.K2655R		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5017					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGCGACCCGAAGAACAACTGC	0.607																																						ENST00000441003.2																			0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(7963-7965)aAg>aGg		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)						139.0	149.0	146.0					11																	1103214		2084	4206	6290	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1103214A>G	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.7964A>G	11.37:g.1103214A>G	ENSP00000415183:p.Lys2655Arg						p.K2655R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	46	7991	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	5017					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.7964A>G		.	.	.	.	.	.	.	.	.	.	A	12.00	1.805141	0.31961	.	.	ENSG00000198788	ENST00000441003	T	0.12255	2.7	3.38	-6.76	0.01732	.	.	.	.	.	T	0.06050	0.0157	L	0.29908	0.895	0.09310	N	1	B	0.17268	0.021	B	0.09377	0.004	T	0.40869	-0.9540	9	0.16896	T	0.51	.	1.2181	0.01918	0.3893:0.2573:0.2285:0.1249	.	2655	E7EUV1	.	R	2655	ENSP00000415183:K2655R	ENSP00000415183:K2655R	K	+	2	0	MUC2	1093214	0.000000	0.05858	0.002000	0.10522	0.537000	0.34900	-1.100000	0.03339	-1.700000	0.01414	-0.441000	0.05720	AAG		0.607	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		16	95	0	0	0	1	0	16	95				
GRIN3B	116444	broad.mit.edu	37	19	1007862	1007862	+	Missense_Mutation	SNP	C	C	G	rs144432988	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:1007862C>G	ENST00000234389.3	+	5	2225	c.2206C>G	c.(2206-2208)Ccc>Gcc	p.P736A		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	736					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGAGCGACCCCCCCAAGCT	0.711																																						ENST00000234389.3																			0				breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(2206-2208)Ccc>Gcc		glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)		ALA/PRO	1,4393		0,1,2196	19.0	18.0	18.0		2206	3.2	1.0	19	dbSNP_134	18	12,8566		0,12,4277	yes	missense	GRIN3B	NM_138690.1	27	0,13,6473	GG,GC,CC		0.1399,0.0228,0.1002	probably-damaging	736/1044	1007862	13,12959	2197	4289	6486	SO:0001583	missense	116444				ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity	g.chr19:1007862C>G		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.2206C>G	19.37:g.1007862C>G	ENSP00000234389:p.Pro736Ala						p.P736A	NM_138690.1	NP_619635.1	O60391	NMD3B_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)	5	2225	+		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)	736					Q5EAK7|Q7RTW9	Missense_Mutation	SNP	ENST00000234389.3	37	c.2206C>G	CCDS32861.1	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953517	0.53293	2.28E-4	0.001399	ENSG00000116032	ENST00000234389	T	0.11821	2.74	3.23	3.23	0.37069	Extracellular solute-binding protein, family 3 (1);Ionotropic glutamate receptor (2);	0.000000	0.85682	U	0.000000	T	0.19127	0.0459	L	0.56769	1.78	0.80722	D	1	D	0.55385	0.971	P	0.46362	0.514	T	0.06320	-1.0833	10	0.87932	D	0	.	13.3744	0.60730	0.0:1.0:0.0:0.0	.	736	O60391	NMD3B_HUMAN	A	736	ENSP00000234389:P736A	ENSP00000234389:P736A	P	+	1	0	GRIN3B	958862	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	5.779000	0.68948	1.545000	0.49373	0.197000	0.17608	CCC		0.711	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103923.2			8	29	0	0	0	1	0	8	29				
VASH1	22846	broad.mit.edu	37	14	77229171	77229171	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:77229171G>C	ENST00000167106.4	+	1	640	c.7G>C	c.(7-9)Ggg>Cgg	p.G3R	VASH1_ENST00000554237.1_Missense_Mutation_p.G3R|RP11-99E15.2_ENST00000556271.1_lincRNA	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	3					angiogenesis (GO:0001525)|cell cycle arrest (GO:0007050)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of lymphangiogenesis (GO:1901491)|regulation of cellular senescence (GO:2000772)|response to wounding (GO:0009611)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		AGGGATGCCAGGGGGGAAGAA	0.647																																						ENST00000167106.4																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10						c.(7-9)Ggg>Cgg		vasohibin 1							6.0	8.0	7.0					14																	77229171		2146	4243	6389	SO:0001583	missense	22846				cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		g.chr14:77229171G>C	AB028959	CCDS9851.1	14q24.3	2006-09-25	2005-08-16	2005-08-16		ENSG00000071246			19964	protein-coding gene	gene with protein product		609011	"""KIAA1036"""	KIAA1036			Standard	NM_014909		Approved		uc001xst.2	Q7L8A9		ENST00000167106.4:c.7G>C	14.37:g.77229171G>C	ENSP00000167106:p.Gly3Arg					VASH1_ENST00000554237.1_Missense_Mutation_p.G3R	p.G3R	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)	1	640	+			3					Q96H02|Q9UBF4|Q9Y629	Missense_Mutation	SNP	ENST00000167106.4	37	c.7G>C	CCDS9851.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469472	0.63625	.	.	ENSG00000071246	ENST00000167106;ENST00000554237	.	.	.	5.03	5.03	0.67393	.	0.217654	0.32444	N	0.006086	T	0.42698	0.1214	N	0.24115	0.695	0.80722	D	1	B;P	0.40431	0.16;0.717	B;B	0.40066	0.082;0.318	T	0.47947	-0.9077	9	0.59425	D	0.04	-14.4668	15.6348	0.76944	0.0:0.0:1.0:0.0	.	3;3	Q7L8A9;Q7L8A9-2	VASH1_HUMAN;.	R	3	.	ENSP00000167106:G3R	G	+	1	0	VASH1	76298924	1.000000	0.71417	0.996000	0.52242	0.861000	0.49209	3.518000	0.53451	2.482000	0.83794	0.655000	0.94253	GGG		0.647	VASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413706.1	NM_014909		3	13	0	0	0	1	0	3	13				
PSEN2	5664	broad.mit.edu	37	1	227071565	227071565	+	Missense_Mutation	SNP	G	G	A	rs373392465		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:227071565G>A	ENST00000366783.3	+	5	737	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	PSEN2_ENST00000391872.2_Missense_Mutation_p.V134M|PSEN2_ENST00000340188.4_Missense_Mutation_p.V101M|PSEN2_ENST00000472139.2_5'Flank|PSEN2_ENST00000422240.2_Missense_Mutation_p.V101M|PSEN2_ENST00000366782.1_Missense_Mutation_p.V134M	NM_000447.2|NM_012486.2	NP_000438.2|NP_036618.2	P49810	PSN2_HUMAN	presenilin 2	101					amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|brain morphogenesis (GO:0048854)|calcium ion transport (GO:0006816)|cardiac muscle contraction (GO:0060048)|cell fate specification (GO:0001708)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|forebrain development (GO:0030900)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|locomotion (GO:0040011)|lung alveolus development (GO:0048286)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|memory (GO:0007613)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein binding (GO:0032091)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of protein phosphorylation (GO:0001933)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of synaptic plasticity (GO:0048167)|response to hypoxia (GO:0001666)|somitogenesis (GO:0001756)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear inner membrane (GO:0005637)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|endopeptidase activity (GO:0004175)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GTGCATGATCGTGGTGGTAGC	0.602																																						ENST00000366782.1																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20						c.(400-402)Gtg>Atg		presenilin 2 (Alzheimer disease 4)		G	MET/VAL,MET/VAL	0,4406		0,0,2203	116.0	104.0	108.0		301,301	5.5	1.0	1		108	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PSEN2	NM_000447.2,NM_012486.2	21,21	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	101/449,101/448	227071565	1,13005	2203	4300	6503	SO:0001583	missense	5664				amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding	g.chr1:227071565G>A	BC006365	CCDS1556.1, CCDS44324.1	1q42.13	2014-09-17	2014-02-24		ENSG00000143801	ENSG00000143801			9509	protein-coding gene	gene with protein product		600759	"""Alzheimer disease 4"""	AD4		7638621	Standard	NM_000447		Approved	AD3L, STM2, PS2	uc009xeo.1	P49810	OTTHUMG00000037563	ENST00000366783.3:c.301G>A	1.37:g.227071565G>A	ENSP00000355747:p.Val101Met					PSEN2_ENST00000391872.2_Missense_Mutation_p.V134M|PSEN2_ENST00000340188.4_Missense_Mutation_p.V101M|PSEN2_ENST00000366783.3_Missense_Mutation_p.V101M|PSEN2_ENST00000422240.2_Missense_Mutation_p.V101M	p.V134M			P49810	PSN2_HUMAN			5	900	+		Prostate(94;0.0771)	101					A8K8D4|B1AP21|Q96P32	Missense_Mutation	SNP	ENST00000366783.3	37	c.400G>A	CCDS1556.1	.	.	.	.	.	.	.	.	.	.	G	32	5.123080	0.94429	0.0	1.16E-4	ENSG00000143801	ENST00000366783;ENST00000340188;ENST00000495488;ENST00000422240;ENST00000366782;ENST00000391872	D;D;D;D;D;D	0.99652	-6.3;-6.3;-6.3;-6.3;-6.3;-6.3	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.99687	0.9882	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.87578	0.913;0.998	D	0.97825	1.0259	10	0.87932	D	0	.	19.3733	0.94498	0.0:0.0:1.0:0.0	.	101;101	A8K8D4;P49810	.;PSN2_HUMAN	M	101;101;101;101;134;134	ENSP00000355747:V101M;ENSP00000339860:V101M;ENSP00000429682:V101M;ENSP00000403737:V101M;ENSP00000355746:V134M;ENSP00000375745:V134M	ENSP00000339860:V101M	V	+	1	0	PSEN2	225138188	1.000000	0.71417	0.975000	0.42487	0.994000	0.84299	9.790000	0.99075	2.579000	0.87056	0.650000	0.86243	GTG		0.602	PSEN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091539.1	NM_000447		40	105	0	0	0	1	0	40	105				
KMT2C	58508	broad.mit.edu	37	7	151935847	151935847	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:151935847C>T	ENST00000262189.6	-	15	2815	c.2597G>A	c.(2596-2598)cGg>cAg	p.R866Q	KMT2C_ENST00000355193.2_Missense_Mutation_p.R866Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	866					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										AAAAATTTCCCGACCTTCTGA	0.418																																						ENST00000355193.2																			0											c.(2596-2598)cGg>cAg		lysine (K)-specific methyltransferase 2C							45.0	48.0	47.0					7																	151935847		2198	4296	6494	SO:0001583	missense	58508							g.chr7:151935847C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2597G>A	7.37:g.151935847C>T	ENSP00000262189:p.Arg866Gln					KMT2C_ENST00000262189.6_Missense_Mutation_p.R866Q	p.R866Q							15	2815	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.2597G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.465059	0.84425	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84370	-1.84;-1.84	5.53	5.53	0.82687	.	0.000000	0.40302	N	0.001133	D	0.84683	0.5526	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	P	0.55011	0.766	T	0.79794	-0.1653	10	0.12103	T	0.63	.	19.8258	0.96617	0.0:1.0:0.0:0.0	.	866	Q8NEZ4	MLL3_HUMAN	Q	866	ENSP00000262189:R866Q;ENSP00000347325:R866Q	ENSP00000262189:R866Q	R	-	2	0	MLL3	151566780	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.442000	0.80503	2.749000	0.94314	0.650000	0.86243	CGG		0.418	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			5	95	0	0	0	1	0	5	95				
BRF1	2972	broad.mit.edu	37	14	105677625	105677625	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:105677625C>A	ENST00000546474.1	-	17	16789	c.1830G>T	c.(1828-1830)ttG>ttT	p.L610F	BRF1_ENST00000440513.3_Missense_Mutation_p.L517F|BRF1_ENST00000392557.4_Missense_Mutation_p.L406F|BRF1_ENST00000327359.3_Missense_Mutation_p.L495F|BRF1_ENST00000547530.1_Missense_Mutation_p.L136F|BRF1_ENST00000446501.2_Missense_Mutation_p.L372F|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.L583F	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	610					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		AGCTTGGGAGCAAAGCCTGGA	0.657																																						ENST00000546474.1																			0				NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24						c.(1828-1830)ttG>ttT		BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit							26.0	25.0	25.0					14																	105677625		2202	4298	6500	SO:0001583	missense	2972				positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	g.chr14:105677625C>A	U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1830G>T	14.37:g.105677625C>A	ENSP00000448323:p.Leu610Phe					BRF1_ENST00000440513.3_Missense_Mutation_p.L517F|BRF1_ENST00000547530.1_Missense_Mutation_p.L136F|BRF1_ENST00000379937.2_Missense_Mutation_p.L583F|BRF1_ENST00000327359.3_Missense_Mutation_p.L495F|BRF1_ENST00000446501.2_Missense_Mutation_p.L372F|BRF1_ENST00000392557.4_Missense_Mutation_p.L406F|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron	p.L610F	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)	17	16789	-		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	610					B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	c.1830G>T	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	C	2.477	-0.320558	0.05386	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000547530;ENST00000446501;ENST00000327359;ENST00000440513	.	.	.	4.3	-0.0758	0.13725	.	2.104930	0.02618	N	0.102921	T	0.30823	0.0777	L	0.36672	1.1	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.08126	-1.0737	9	0.25106	T	0.35	.	3.191	0.06616	0.1855:0.4968:0.0:0.3177	.	517;583;610	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	F	406;583;610;136;372;495;517	.	ENSP00000329029:L495F	L	-	3	2	BRF1	104748670	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.881000	0.04179	0.155000	0.19261	0.561000	0.74099	TTG		0.657	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519		5	46	1	0	0.00116845	1	0.00118931	5	46				
ORC4	5000	broad.mit.edu	37	2	148705676	148705676	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:148705676G>T	ENST00000392857.5	-	9	813	c.706C>A	c.(706-708)Cta>Ata	p.L236I	ORC4_ENST00000540442.1_Missense_Mutation_p.L162I|ORC4_ENST00000392858.1_Missense_Mutation_p.L236I|ORC4_ENST00000536575.1_Missense_Mutation_p.L152I|ORC4_ENST00000542387.1_Missense_Mutation_p.L19I|ORC4_ENST00000535373.1_Missense_Mutation_p.L236I|ORC4_ENST00000264169.2_Missense_Mutation_p.L236I	NM_001190879.2|NM_001190882.2|NM_002552.4|NM_181741.3	NP_001177808.1|NP_001177811.1|NP_002543.2|NP_859525.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	236					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						TCTGCAGGTAGAGATAACTGT	0.333																																						ENST00000535373.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						c.(706-708)Cta>Ata		origin recognition complex, subunit 4							63.0	72.0	69.0					2																	148705676		2203	4293	6496	SO:0001583	missense	5000				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding	g.chr2:148705676G>T	AF022108	CCDS2187.1, CCDS54404.1, CCDS54405.1	2q22-q23	2010-10-12	2010-10-12	2010-10-12	ENSG00000115947	ENSG00000115947		"""ATPases / AAA-type"""	8490	protein-coding gene	gene with protein product		603056	"""origin recognition complex, subunit 4 (yeast homolog)-like"", ""origin recognition complex, subunit 4-like (yeast)"", ""origin recognition complex, subunit 4-like (S. cerevisiae)"", ""origin recognition complex, subunit 4 homolog (S. cerevisiae)"""	ORC4L		9353276, 9691185	Standard	NM_181742		Approved	HsORC4, Orc4p	uc002twk.3	O43929	OTTHUMG00000131849	ENST00000392857.5:c.706C>A	2.37:g.148705676G>T	ENSP00000376597:p.Leu236Ile					ORC4_ENST00000392857.4_Missense_Mutation_p.L236I|ORC4_ENST00000392858.1_Missense_Mutation_p.L236I|ORC4_ENST00000264169.2_Missense_Mutation_p.L236I|ORC4_ENST00000542387.1_Missense_Mutation_p.L19I|ORC4_ENST00000540442.1_Missense_Mutation_p.L162I|ORC4_ENST00000536575.1_Missense_Mutation_p.L152I	p.L236I	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN			10	1138	-			236					B7Z3D0|B7Z5F1|D3DP86|F5H069|Q96C42	Missense_Mutation	SNP	ENST00000392857.5	37	c.706C>A	CCDS2187.1	.	.	.	.	.	.	.	.	.	.	G	19.84	3.901234	0.72754	.	.	ENSG00000115947	ENST00000264169;ENST00000535373;ENST00000392858;ENST00000540442;ENST00000536575;ENST00000392857;ENST00000542387	T;T;T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34;-1.34;-1.34	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.87406	0.6169	M	0.64080	1.96	0.50467	D	0.999875	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.85891	0.1428	10	0.30854	T	0.27	-10.5231	15.0428	0.71805	0.068:0.0:0.932:0.0	.	236;236;236	B7Z2M4;A8K7H4;O43929	.;.;ORC4_HUMAN	I	236;236;236;162;152;236;19	ENSP00000264169:L236I;ENSP00000441953:L236I;ENSP00000376598:L236I;ENSP00000438326:L162I;ENSP00000441502:L152I;ENSP00000376597:L236I;ENSP00000437440:L19I	ENSP00000264169:L236I	L	-	1	2	ORC4	148422146	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.519000	0.45546	1.471000	0.48121	0.650000	0.86243	CTA		0.333	ORC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254797.3	NM_181742		19	36	1	0	3.51602e-12	1	4.09006e-12	19	36				
ISYNA1	51477	broad.mit.edu	37	19	18545850	18545850	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:18545850C>T	ENST00000338128.8	-	11	1767	c.1550G>A	c.(1549-1551)cGa>cAa	p.R517Q	ISYNA1_ENST00000317018.6_Missense_Mutation_p.R315Q|ISYNA1_ENST00000578963.1_Missense_Mutation_p.R389Q|ISYNA1_ENST00000457269.4_Missense_Mutation_p.R463Q|ISYNA1_ENST00000545187.1_Missense_Mutation_p.R367Q	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	517					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						GGGTCCAACTCGCTTGAGGCT	0.612																																						ENST00000545187.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						c.(1099-1101)cGa>cAa		inositol-3-phosphate synthase 1							62.0	62.0	62.0					19																	18545850		2203	4300	6503	SO:0001583	missense	51477				inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity	g.chr19:18545850C>T		CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1550G>A	19.37:g.18545850C>T	ENSP00000337746:p.Arg517Gln					ISYNA1_ENST00000317018.6_Missense_Mutation_p.R315Q|ISYNA1_ENST00000457269.3_Missense_Mutation_p.R463Q|ISYNA1_ENST00000578963.1_Missense_Mutation_p.R389Q|ISYNA1_ENST00000338128.7_Missense_Mutation_p.R517Q	p.R367Q			Q9NPH2	INO1_HUMAN			8	1386	-			517					B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	ENST00000338128.8	37	c.1100G>A	CCDS12379.1	.	.	.	.	.	.	.	.	.	.	C	11.73	1.725696	0.30593	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.09	-8.18	0.01053	.	2.348000	0.02130	N	0.056312	T	0.23727	0.0574	N	0.25201	0.72	0.09310	N	1	B;B;B;B	0.10296	0.0;0.002;0.003;0.0	B;B;B;B	0.06405	0.0;0.002;0.001;0.001	T	0.10177	-1.0641	9	0.20046	T	0.44	2.911	6.4142	0.21708	0.0:0.2828:0.3363:0.381	.	315;463;517;367	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	Q	517;463;367;315	.	ENSP00000315147:R315Q	R	-	2	0	ISYNA1	18406850	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.445000	0.01011	-2.321000	0.00641	-1.633000	0.00780	CGA		0.612	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444469.2	NM_016368		26	114	0	0	0	1	0	26	114				
ABCA12	26154	broad.mit.edu	37	2	215838749	215838749	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:215838749T>C	ENST00000272895.7	-	36	5705	c.5486A>G	c.(5485-5487)gAc>gGc	p.D1829G	ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1829					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTCCAGACTGTCTTTGTTTAA	0.373																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(5485-5487)gAc>gGc		ATP-binding cassette, sub-family A (ABC1), member 12							225.0	201.0	209.0					2																	215838749		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215838749T>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5486A>G	2.37:g.215838749T>C	ENSP00000272895:p.Asp1829Gly					ABCA12_ENST00000389661.4_Missense_Mutation_p.D1511G	p.D1829G	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	36	5705	-		Renal(323;0.127)	1829					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.5486A>G	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	T	2.538	-0.307028	0.05458	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.88586	-2.4;-2.39	5.51	0.243	0.15503	.	1.268040	0.05120	N	0.490566	T	0.77143	0.4087	N	0.10707	0.03	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.61138	-0.7123	10	0.19147	T	0.46	.	9.3078	0.37885	0.0:0.3943:0.0:0.6057	.	1829;1511	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	G	1829;1511	ENSP00000272895:D1829G;ENSP00000374312:D1511G	ENSP00000272895:D1829G	D	-	2	0	ABCA12	215546994	0.000000	0.05858	0.000000	0.03702	0.180000	0.23129	0.118000	0.15605	0.059000	0.16252	-0.379000	0.06801	GAC		0.373	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		7	35	0	0	0	1	0	7	35				
NAV3	89795	broad.mit.edu	37	12	78452894	78452894	+	Splice_Site	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:78452894A>T	ENST00000397909.2	+	12	2808	c.2635A>T	c.(2635-2637)Agc>Tgc	p.S879C	NAV3_ENST00000536525.2_Splice_Site_p.S879C|RP11-136F16.1_ENST00000549103.1_RNA|NAV3_ENST00000266692.7_Splice_Site_p.S879C|NAV3_ENST00000228327.6_Splice_Site_p.S879C			Q8IVL0	NAV3_HUMAN	neuron navigator 3	879						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGATGCAGACAGGTAATGCTA	0.383										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.e12+1		neuron navigator 3							104.0	96.0	98.0					12																	78452894		1923	4147	6070	SO:0001630	splice_region_variant	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78452894A>T	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.2636+1A>T	12.37:g.78452894A>T		HNSCC(70;0.22)				NAV3_ENST00000228327.6_Splice_Site_p.S879_splice|NAV3_ENST00000266692.7_Splice_Site_p.S879_splice|NAV3_ENST00000536525.2_Splice_Site_p.S879_splice|RP11-136F16.1_ENST00000549103.1_RNA	p.S879_splice			Q8IVL0	NAV3_HUMAN			12	2808	+			879					Q8NFW7|Q9Y2E7	Splice_Site	SNP	ENST00000397909.2	37	c.2636_splice		.	.	.	.	.	.	.	.	.	.	A	26.1	4.700844	0.88924	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T	0.37058	1.3;1.31;1.32;1.22	5.82	5.82	0.92795	.	0.000000	0.48286	U	0.000198	T	0.55593	0.1930	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.81914	0.993;0.921;0.995	T	0.57573	-0.7788	10	0.87932	D	0	-13.6875	16.1966	0.82029	1.0:0.0:0.0:0.0	.	879;879;879	E7EUC6;Q8IVL0;Q8IVL0-2	.;NAV3_HUMAN;.	C	879	ENSP00000446132:S879C;ENSP00000381007:S879C;ENSP00000228327:S879C;ENSP00000266692:S879C	ENSP00000228327:S879C	S	+	1	0	NAV3	76977025	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.429000	0.90280	2.232000	0.73038	0.528000	0.53228	AGC		0.383	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	Missense_Mutation	15	31	0	0	0	1	0	15	31				
NTSR2	23620	broad.mit.edu	37	2	11802117	11802117	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:11802117G>A	ENST00000306928.5	-	2	908	c.874C>T	c.(874-876)Ctc>Ttc	p.L292F		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	292					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CTGCGCTGGAGGCTGCGGATC	0.582																																						ENST00000306928.5																			0				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17						c.(874-876)Ctc>Ttc		neurotensin receptor 2	Levocabastine(DB01106)						68.0	73.0	71.0					2																	11802117		2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802117G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.874C>T	2.37:g.11802117G>A	ENSP00000303686:p.Leu292Phe						p.L292F	NM_012344.3	NP_036476.1	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	908	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		292					Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.874C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	17.49	3.403529	0.62288	.	.	ENSG00000169006	ENST00000306928	T	0.72167	-0.63	4.31	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39759	N	0.001270	T	0.80014	0.4546	M	0.65498	2.005	0.31518	N	0.662701	D	0.76494	0.999	D	0.91635	0.999	T	0.80004	-0.1564	10	0.48119	T	0.1	-24.7179	10.0138	0.42003	0.0:0.0:0.7971:0.2029	.	292	O95665	NTR2_HUMAN	F	292	ENSP00000303686:L292F	ENSP00000303686:L292F	L	-	1	0	NTSR2	11719568	1.000000	0.71417	0.959000	0.39883	0.947000	0.59692	4.047000	0.57383	1.076000	0.40961	0.455000	0.32223	CTC		0.582	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			43	109	0	0	0	1	0	43	109				
NRG3	10718	broad.mit.edu	37	10	83635736	83635736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:83635736G>T	ENST00000404547.1	+	1	640	c.640G>T	c.(640-642)Gga>Tga	p.G214*	NRG3_ENST00000404576.2_5'Flank|NRG3_ENST00000372142.2_5'Flank|NRG3_ENST00000372141.2_Nonsense_Mutation_p.G214*|NRG3_ENST00000556918.1_5'Flank			P56975	NRG3_HUMAN	neuregulin 3	214	Ser/Thr-rich.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CCCGGTGCCAGGAACTCCAAG	0.647																																						ENST00000404547.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(640-642)Gga>Tga		neuregulin 3							70.0	64.0	66.0					10																	83635736		2203	4300	6503	SO:0001587	stop_gained	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:83635736G>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.640G>T	10.37:g.83635736G>T	ENSP00000384796:p.Gly214*					NRG3_ENST00000372141.2_Nonsense_Mutation_p.G214*	p.G214*			P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	1	640	+			214			Ser/Thr-rich.		A4D7U1|Q0PEH2|Q5VYH3	Nonsense_Mutation	SNP	ENST00000404547.1	37	c.640G>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	G	37	6.398503	0.97533	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287	.	.	.	3.52	2.61	0.31194	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.5666	8.9672	0.35883	0.1145:0.0:0.8855:0.0	.	.	.	.	X	214	.	ENSP00000361214:G214X	G	+	1	0	NRG3	83625716	1.000000	0.71417	0.025000	0.17156	0.811000	0.45836	5.828000	0.69307	0.833000	0.34828	0.478000	0.44815	GGA		0.647	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		8	40	1	0	5.18039e-06	1	5.50215e-06	8	40				
CHEK2P2	646096	broad.mit.edu	37	15	20490523	20490523	+	RNA	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr15:20490523G>C	ENST00000555186.1	+	0	503					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TTGTCAAGAAGTTGTTGGTAG	0.428																																						ENST00000555186.1																			0																																																			646096							g.chr15:20490523G>C			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20490523G>C								NR_038836.1						0	503	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.428	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		20	327	0	0	0	1	0	20	327				
ABCA4	24	broad.mit.edu	37	1	94463633	94463633	+	Silent	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:94463633G>T	ENST00000370225.3	-	48	6599	c.6513C>A	c.(6511-6513)atC>atA	p.I2171I	ABCA4_ENST00000536513.1_Silent_p.I441I|ABCA4_ENST00000535881.1_Silent_p.I290I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2171					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCGGGGATTTGATCTTCATTG	0.517																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6511-6513)atC>atA		ATP-binding cassette, sub-family A (ABC1), member 4							103.0	89.0	93.0					1																	94463633		2203	4300	6503	SO:0001819	synonymous_variant	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94463633G>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6513C>A	1.37:g.94463633G>T						ABCA4_ENST00000536513.1_Silent_p.I441I|ABCA4_ENST00000535881.1_Silent_p.I290I	p.I2171I	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	48	6599	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2171					O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	ENST00000370225.3	37	c.6513C>A	CCDS747.1																																																																																				0.517	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		21	43	1	0	9.95505e-16	1	1.19881e-15	21	43				
AKAP12	9590	broad.mit.edu	37	6	151671464	151671464	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:151671464C>T	ENST00000253332.1	+	3	2127	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	AKAP12_ENST00000402676.2_Silent_p.T646T|AKAP12_ENST00000359755.5_Silent_p.T541T|AKAP12_ENST00000354675.6_Silent_p.T548T			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	646					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGTCTTCCACCGAGAGCACAG	0.502																																					Melanoma(141;1616 1805 10049 24534 51979)	ENST00000402676.2																			0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(1936-1938)acC>acT		A kinase (PRKA) anchor protein 12							76.0	72.0	73.0					6																	151671464		2203	4300	6503	SO:0001819	synonymous_variant	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151671464C>T	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.1938C>T	6.37:g.151671464C>T						AKAP12_ENST00000253332.1_Silent_p.T646T|AKAP12_ENST00000354675.6_Silent_p.T548T|AKAP12_ENST00000359755.5_Silent_p.T541T	p.T646T	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	4	2178	+		Ovarian(120;0.125)	646					O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Silent	SNP	ENST00000253332.1	37	c.1938C>T	CCDS5229.1																																																																																				0.502	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1			3	50	0	0	0	1	0	3	50				
KRTAP10-9	386676	broad.mit.edu	37	21	46047708	46047708	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr21:46047708C>G	ENST00000397911.3	+	1	669	c.620C>G	c.(619-621)tCt>tGt	p.S207C	TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	207	25 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GGGGCTTCCTCTTTGTGCTGC	0.627																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(619-621)tCt>tGt		keratin associated protein 10-9							199.0	220.0	213.0					21																	46047708		2203	4300	6503	SO:0001583	missense	386676					keratin filament		g.chr21:46047708C>G	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.620C>G	21.37:g.46047708C>G	ENSP00000381009:p.Ser207Cys					TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	p.S207C	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	669	+			207			25 X 5 AA repeats of C-C-X(3).		A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.620C>G	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	c	9.641	1.139058	0.21205	.	.	ENSG00000221837	ENST00000397911	T	0.01139	5.28	3.53	2.64	0.31445	.	.	.	.	.	T	0.04588	0.0125	M	0.81112	2.525	0.21675	N	0.999593	D	0.69078	0.997	P	0.58873	0.847	T	0.28004	-1.0057	8	.	.	.	.	7.0416	0.25023	0.0:0.8658:0.0:0.1342	.	207	P60411	KR109_HUMAN	C	207	ENSP00000381009:S207C	.	S	+	2	0	KRTAP10-9	44872136	0.033000	0.19621	0.009000	0.14445	0.003000	0.03518	0.993000	0.29680	0.461000	0.27071	-0.119000	0.15052	TCT		0.627	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			139	253	0	0	0	1	0	139	253				
ERBB3	2065	broad.mit.edu	37	12	56481609	56481609	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:56481609A>G	ENST00000267101.3	+	6	1084	c.644A>G	c.(643-645)aAt>aGt	p.N215S	ERBB3_ENST00000415288.2_Missense_Mutation_p.N156S|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	215					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTCAGTGTAATGGTCACTGC	0.552																																						ENST00000267101.3																			0				central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8						c.(643-645)aAt>aGt		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3							125.0	111.0	116.0					12																	56481609		2203	4300	6503	SO:0001583	missense	2065				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr12:56481609A>G	M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.644A>G	12.37:g.56481609A>G	ENSP00000267101:p.Asn215Ser					ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.N156S	p.N215S	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.112)		6	1084	+			215					A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	ENST00000267101.3	37	c.644A>G	CCDS31833.1	.	.	.	.	.	.	.	.	.	.	A	11.84	1.757239	0.31137	.	.	ENSG00000065361	ENST00000267101;ENST00000394099;ENST00000415288	T;T	0.63096	-0.02;-0.02	5.69	5.69	0.88448	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.64402	D	0.000001	T	0.47948	0.1473	L	0.28115	0.83	0.80722	D	1	B	0.23442	0.085	B	0.22386	0.039	T	0.42649	-0.9439	10	0.11794	T	0.64	.	14.9293	0.70903	1.0:0.0:0.0:0.0	.	215	P21860	ERBB3_HUMAN	S	215;215;156	ENSP00000267101:N215S;ENSP00000408340:N156S	ENSP00000267101:N215S	N	+	2	0	ERBB3	54767876	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.872000	0.56085	2.169000	0.68431	0.533000	0.62120	AAT		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407619.3			33	80	0	0	0	1	0	33	80				
ZNF655	79027	broad.mit.edu	37	7	99170042	99170042	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:99170042G>A	ENST00000394163.2	+	3	494	c.311G>A	c.(310-312)aGg>aAg	p.R104K	ZNF655_ENST00000419215.2_3'UTR|GS1-259H13.10_ENST00000486324.1_Intron|ZNF655_ENST00000252713.4_Missense_Mutation_p.R104K|ZNF655_ENST00000493277.1_Missense_Mutation_p.R139K|ZNF655_ENST00000424881.1_Missense_Mutation_p.R139K|ZNF655_ENST00000425063.1_3'UTR|GS1-259H13.10_ENST00000455905.1_Intron	NM_001009960.1|NM_138494.2	NP_001009960.1|NP_612503.1	Q8N720	ZN655_HUMAN	zinc finger protein 655	104					negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					GAAATTCTAAGGAAATTTCTG	0.398																																						ENST00000424881.1																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16						c.(415-417)aGg>aAg		zinc finger protein 655							59.0	59.0	59.0					7																	99170042		2203	4300	6503	SO:0001583	missense	79027				G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr7:99170042G>A	AY099353	CCDS5669.1, CCDS5670.1, CCDS34695.1, CCDS47655.1	7q22.1	2013-01-08			ENSG00000197343	ENSG00000197343		"""Zinc fingers, C2H2-type"", ""-"""	30899	protein-coding gene	gene with protein product						11179890, 15558030	Standard	NM_001083956		Approved	VIK-1, VIK	uc010lgc.3	Q8N720	OTTHUMG00000156637	ENST00000394163.2:c.311G>A	7.37:g.99170042G>A	ENSP00000377718:p.Arg104Lys					ZNF655_ENST00000425063.1_3'UTR|ZNF655_ENST00000419215.2_3'UTR|ZNF655_ENST00000394163.2_Missense_Mutation_p.R104K|ZNF655_ENST00000252713.4_Missense_Mutation_p.R104K|ZNF655_ENST00000493277.1_Missense_Mutation_p.R139K	p.R139K	NM_001083956.1|NM_001085368.1	NP_001077425.1|NP_001078837.1	Q8N720	ZN655_HUMAN			4	636	+	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)		104					A4D291|A6NGD3|B4E3M4|B7Z9Q9|D6W5T4|Q8IV00|Q8TA89|Q96EZ3|Q9BQ85	Missense_Mutation	SNP	ENST00000394163.2	37	c.416G>A	CCDS5669.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446967	0.63178	.	.	ENSG00000197343	ENST00000252713;ENST00000493277;ENST00000422164;ENST00000424881;ENST00000394163	T;T;T;T;T	0.33865	3.53;3.44;1.39;3.44;3.53	4.22	3.34	0.38264	.	0.000000	0.51477	D	0.000091	T	0.19604	0.0471	N	0.24115	0.695	0.80722	D	1	B;B	0.11235	0.004;0.003	B;B	0.12156	0.007;0.003	T	0.07927	-1.0747	10	0.02654	T	1	-3.0106	10.3901	0.44164	0.097:0.0:0.903:0.0	.	139;104	Q8N720-3;Q8N720	.;ZN655_HUMAN	K	104;139;139;139;104	ENSP00000252713:R104K;ENSP00000419135:R139K;ENSP00000389260:R139K;ENSP00000393876:R139K;ENSP00000377718:R104K	ENSP00000252713:R104K	R	+	2	0	ZNF655	99007978	0.416000	0.25424	1.000000	0.80357	0.955000	0.61496	0.714000	0.25808	1.393000	0.46605	-0.142000	0.14014	AGG		0.398	ZNF655-009	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000344929.1	NM_138494		6	60	0	0	0	1	0	6	60				
RNF133	168433	broad.mit.edu	37	7	122338281	122338281	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:122338281T>C	ENST00000340112.2	-	1	929	c.692A>G	c.(691-693)cAg>cGg	p.Q231R	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	231					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATGTGTTCTGAAGATCTGT	0.388																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(691-693)cAg>cGg		ring finger protein 133							147.0	142.0	144.0					7																	122338281		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338281T>C	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.692A>G	7.37:g.122338281T>C	ENSP00000344489:p.Gln231Arg					CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	p.Q231R	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	929	-			231					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.692A>G	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	T	8.731	0.916611	0.17907	.	.	ENSG00000188050	ENST00000340112	T	0.14266	2.52	5.62	4.48	0.54585	.	0.064485	0.64402	N	0.000012	T	0.06325	0.0163	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.27806	-1.0063	10	0.40728	T	0.16	.	9.7012	0.40187	0.0:0.0787:0.0:0.9213	.	231	Q8WVZ7	RN133_HUMAN	R	231	ENSP00000344489:Q231R	ENSP00000344489:Q231R	Q	-	2	0	RNF133	122125517	0.995000	0.38212	0.062000	0.19696	0.145000	0.21501	1.517000	0.35867	0.973000	0.38340	0.459000	0.35465	CAG		0.388	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		36	70	0	0	0	1	0	36	70				
KHDRBS1	10657	broad.mit.edu	37	1	32503572	32503572	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:32503572C>T	ENST00000327300.7	+	6	1209	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R309W|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAAGAGCACGGACAGCGGG	0.542																																					Ovarian(173;401 1982 12359 31110 42403)	ENST00000327300.7																			0				endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14						c.(1042-1044)Cgg>Tgg		KH domain containing, RNA binding, signal transduction associated 1							87.0	84.0	85.0					1																	32503572		2203	4300	6503	SO:0001583	missense	10657				cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:32503572C>T	U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.1042C>T	1.37:g.32503572C>T	ENSP00000313829:p.Arg348Trp					KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R309W|KHDRBS1_ENST00000307714.8_3'UTR	p.R348W	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN			6	1209	+		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	348			Pro-rich.			Missense_Mutation	SNP	ENST00000327300.7	37	c.1042C>T	CCDS350.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.770478	0.90108	.	.	ENSG00000121774	ENST00000327300;ENST00000492989;ENST00000355201	T;T	0.54675	0.58;0.56	5.84	4.93	0.64822	.	0.254262	0.39759	N	0.001264	T	0.57242	0.2040	M	0.79693	2.465	0.50039	D	0.999842	B;B	0.10296	0.002;0.003	B;B	0.08055	0.0;0.003	T	0.60105	-0.7328	10	0.87932	D	0	.	14.919	0.70822	0.0:0.9309:0.0:0.0691	.	348;309	Q07666;Q07666-3	KHDR1_HUMAN;.	W	348;309;324	ENSP00000313829:R348W;ENSP00000417731:R309W	ENSP00000313829:R348W	R	+	1	2	KHDRBS1	32276159	1.000000	0.71417	0.997000	0.53966	0.895000	0.52256	4.888000	0.63164	1.632000	0.50472	-0.142000	0.14014	CGG		0.542	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011199.4	NM_006559		19	106	0	0	0	1	0	19	106				
LENG8	114823	broad.mit.edu	37	19	54969111	54969111	+	Splice_Site	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:54969111A>G	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8											breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CCGCTGCCCCAGGTGCAGGGC	0.682																																						ENST00000326764.5																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.e13-1		leukocyte receptor cluster (LRC) member 8							52.0	55.0	54.0					19																	54969111		2203	4300	6503	SO:0001630	splice_region_variant	114823						protein binding	g.chr19:54969111A>G	AF211975	CCDS12894.1	19q13.4	2008-02-05			ENSG00000167615	ENSG00000167615			15500	protein-coding gene	gene with protein product						10941842	Standard	XM_005278248		Approved	KIAA1932, MGC40108, pp13842	uc002qfw.2	Q96PV6	OTTHUMG00000065548	ENST00000326764.5:c.1834-1A>G	19.37:g.54969111A>G						LENG8_ENST00000376514.2_Intron		NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN		GBM - Glioblastoma multiforme(193;0.139)	13	2312	+	Ovarian(34;0.19)							B0VJY9|Q8IZ27|Q8NCX6	Splice_Site	SNP	ENST00000326764.5	37		CCDS12894.1	.	.	.	.	.	.	.	.	.	.	A	14.32	2.498962	0.44455	.	.	ENSG00000167615	ENST00000326764;ENST00000301196;ENST00000376526;ENST00000431846	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2512	0.60052	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LENG8	59660923	1.000000	0.71417	0.997000	0.53966	0.318000	0.28184	8.127000	0.89593	2.087000	0.62958	0.459000	0.35465	.		0.682	LENG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140523.2	NM_052925	Intron	28	67	0	0	0	1	0	28	67				
PLXNA1	5361	broad.mit.edu	37	3	126707544	126707544	+	Silent	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:126707544T>G	ENST00000393409.2	+	1	108	c.108T>G	c.(106-108)ggT>ggG	p.G36G	PLXNA1_ENST00000251772.4_Silent_p.G13G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	36	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.G13G(4)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CAGGCGGGGGTTCACAGCCCC	0.682																																						ENST00000393409.2																			4	Substitution - coding silent(4)	p.G13G(4)	lung(2)|kidney(2)	breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67						c.(106-108)ggT>ggG		plexin A1							26.0	27.0	27.0					3																	126707544		2203	4300	6503	SO:0001819	synonymous_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126707544T>G	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.108T>G	3.37:g.126707544T>G						PLXNA1_ENST00000251772.4_Silent_p.G13G	p.G36G	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	1	108	+			36			Sema.			Silent	SNP	ENST00000393409.2	37	c.108T>G	CCDS33847.2																																																																																				0.682	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242		13	36	0	0	0	1	0	13	36				
UHRF1BP1	54887	broad.mit.edu	37	6	34826309	34826309	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:34826309A>G	ENST00000192788.5	+	14	2347	c.2176A>G	c.(2176-2178)Att>Gtt	p.I726V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I726V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	726							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CCCCCTGTCCATTTGGGCCTG	0.542																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2176-2178)Att>Gtt		UHRF1 binding protein 1							55.0	57.0	56.0					6																	34826309		1885	4112	5997	SO:0001583	missense	54887							g.chr6:34826309A>G	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2176A>G	6.37:g.34826309A>G	ENSP00000192788:p.Ile726Val					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.I726V	p.I726V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2347	+			726					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2176A>G	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	8.150	0.787112	0.16189	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.07021	3.24;3.23	5.55	1.84	0.25277	.	0.219599	0.37095	N	0.002246	T	0.01254	0.0041	N	0.14661	0.345	0.29225	N	0.873691	B	0.10296	0.003	B	0.04013	0.001	T	0.48625	-0.9019	10	0.27785	T	0.31	-6.4295	5.8458	0.18665	0.6236:0.135:0.2414:0.0	.	726	Q6BDS2	URFB1_HUMAN	V	726	ENSP00000192788:I726V;ENSP00000400628:I726V	ENSP00000192788:I726V	I	+	1	0	UHRF1BP1	34934287	0.376000	0.25098	1.000000	0.80357	0.993000	0.82548	0.198000	0.17217	0.380000	0.24823	0.477000	0.44152	ATT		0.542	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		21	45	0	0	0	1	0	21	45				
CKLF	51192	broad.mit.edu	37	16	66592200	66592200	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:66592200A>T	ENST00000264001.4	+	2	335	c.186A>T	c.(184-186)ttA>ttT	p.L62F	CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_Intron|CKLF_ENST00000362093.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.L62F|CKLF_ENST00000345436.4_Missense_Mutation_p.L62F|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF_ENST00000351137.4_Intron	NM_016951.3	NP_058647.1	Q9UBR5	CKLF_HUMAN	chemokine-like factor	62	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell proliferation (GO:0008283)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|secretion by cell (GO:0032940)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chemokine activity (GO:0008009)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCATACTTTTATATGTACTCA	0.338																																						ENST00000264001.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5						c.(184-186)ttA>ttT		chemokine-like factor							186.0	191.0	189.0					16																	66592200		2200	4300	6500	SO:0001583	missense	51192							g.chr16:66592200A>T	AF096895	CCDS10806.1, CCDS10807.1, CCDS10808.1, CCDS10809.1, CCDS45502.1	16q22.1-q22.3	2008-02-05	2003-02-28	2003-03-07	ENSG00000217555	ENSG00000217555			13253	protein-coding gene	gene with protein product			"""chemokine-like factor 1"""	CKLF1		11042152, 11415443	Standard	NM_016326		Approved	UCK-1, CKLF3, CKLF4, HSPC224, C32		Q9UBR5	OTTHUMG00000137504	ENST00000264001.4:c.186A>T	16.37:g.66592200A>T	ENSP00000264001:p.Leu62Phe					CKLF_ENST00000532838.1_Intron|CKLF_ENST00000345436.4_Missense_Mutation_p.L62F|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_Intron|CKLF_ENST00000351137.4_Intron|CKLF_ENST00000417030.2_Missense_Mutation_p.L62F|CKLF_ENST00000362093.4_Intron	p.L62F	NM_016951.3	NP_058647.1				OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)	2	335	+		Ovarian(137;0.0563)						C9JE38|Q9UHM7|Q9UHN8|Q9UI41	Missense_Mutation	SNP	ENST00000264001.4	37	c.186A>T	CCDS10807.1	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337923	0.60963	.	.	ENSG00000217555	ENST00000264001;ENST00000345436;ENST00000361141;ENST00000417030	T;T	0.53857	0.64;0.6	5.05	1.5	0.22942	Marvel (1);	.	.	.	.	T	0.63129	0.2485	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.998	T	0.59563	-0.7431	9	0.51188	T	0.08	-15.9363	5.9899	0.19454	0.6765:0.0:0.3235:0.0	.	62;62;62	Q9UBR5-5;Q9UBR5;Q9UBR5-4	.;CKLF_HUMAN;.	F	62	ENSP00000264001:L62F;ENSP00000416678:L62F	ENSP00000264001:L62F	L	+	3	2	CKLF	65149701	0.911000	0.30947	0.986000	0.45419	0.726000	0.41606	-0.159000	0.10056	0.401000	0.25424	0.528000	0.53228	TTA		0.338	CKLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268816.2	NM_016326		41	80	0	0	0	1	0	41	80				
TMEM56	148534	broad.mit.edu	37	1	95657222	95657222	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:95657222G>T	ENST00000370203.4	+	7	881	c.590G>T	c.(589-591)gGc>gTc	p.G197V	RP11-57H12.3_ENST00000419846.1_RNA|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.6_ENST00000604534.1_Intron	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	197	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CCTCATTATGGCTTCATGTAT	0.393																																						ENST00000370203.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12						c.(589-591)gGc>gTc		transmembrane protein 56							236.0	205.0	216.0					1																	95657222		2203	4300	6503	SO:0001583	missense	148534					integral to membrane		g.chr1:95657222G>T		CCDS753.1	1p21.3	2008-02-05			ENSG00000152078	ENSG00000152078			26477	protein-coding gene	gene with protein product							Standard	NM_152487		Approved	FLJ31842	uc001drb.3	Q96MV1	OTTHUMG00000010847	ENST00000370203.4:c.590G>T	1.37:g.95657222G>T	ENSP00000359222:p.Gly197Val					RP11-57H12.6_ENST00000604534.1_Intron|RP11-57H12.3_ENST00000421762.1_RNA|RP11-57H12.3_ENST00000419846.1_RNA	p.G197V	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN		all cancers(265;0.133)	7	881	+		all_lung(203;0.0232)|Lung NSC(277;0.0739)	197			TLC.		B2RPI2|D3DT48	Missense_Mutation	SNP	ENST00000370203.4	37	c.590G>T	CCDS753.1	.	.	.	.	.	.	.	.	.	.	G	1.676	-0.507654	0.04231	.	.	ENSG00000152078	ENST00000370203	D	0.84370	-1.84	5.94	-1.6	0.08426	TRAM/LAG1/CLN8 homology domain (3);	1.060280	0.07269	N	0.868821	T	0.41373	0.1156	N	0.08118	0	0.32196	N	0.578446	B	0.12013	0.005	B	0.17979	0.02	T	0.09684	-1.0663	9	0.16896	T	0.51	8.3996	2.3006	0.04161	0.1284:0.2004:0.2856:0.3856	.	197	Q96MV1	TMM56_HUMAN	V	197	ENSP00000359222:G197V	ENSP00000359222:G197V	G	+	2	0	TMEM56	95429810	0.000000	0.05858	0.000000	0.03702	0.234000	0.25298	0.167000	0.16602	-0.599000	0.05798	-0.175000	0.13238	GGC		0.393	TMEM56-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029935.1	NM_152487		37	72	1	0	9.62906e-15	1	1.15145e-14	37	72				
DDO	8528	broad.mit.edu	37	6	110714071	110714071	+	Silent	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:110714071G>T	ENST00000368924.3	-	5	1032	c.1017C>A	c.(1015-1017)atC>atA	p.I339I	DDO_ENST00000368923.3_Silent_p.I280I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN	D-aspartate oxidase	311					aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|D-amino acid catabolic process (GO:0019478)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insemination (GO:0007320)|oxidation-reduction process (GO:0055114)	peroxisome (GO:0005777)	cofactor binding (GO:0048037)|D-aspartate oxidase activity (GO:0008445)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AGTGCACTGAGATGCCCCCAC	0.622																																						ENST00000368924.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24						c.(1015-1017)atC>atA		D-aspartate oxidase							63.0	56.0	59.0					6																	110714071		2203	4300	6503	SO:0001819	synonymous_variant	8528				aspartate catabolic process	peroxisome	binding|D-amino-acid oxidase activity|D-aspartate oxidase activity	g.chr6:110714071G>T	D89858	CCDS5082.1, CCDS5083.1	6q22.1	2008-02-05			ENSG00000203797	ENSG00000203797	1.4.3.1		2727	protein-coding gene	gene with protein product		124450				9163533	Standard	NM_003649		Approved		uc003puc.3	Q99489	OTTHUMG00000015360	ENST00000368924.3:c.1017C>A	6.37:g.110714071G>T						DDO_ENST00000368923.3_Silent_p.I280I|DDO_ENST00000368925.1_Silent_p.I311I	p.I339I	NM_003649.2	NP_003640.2	Q99489	OXDD_HUMAN		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)	5	1032	-		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)	311					A8KAG4|Q5JXM4|Q5JXM5|Q5JXM6|Q8N552	Silent	SNP	ENST00000368924.3	37	c.1017C>A	CCDS5082.1																																																																																				0.622	DDO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041796.1			19	60	1	0	9.7654e-05	1	0.000102447	19	60				
ZIC1	7545	broad.mit.edu	37	3	147128206	147128206	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:147128206C>G	ENST00000282928.4	+	1	1036	c.307C>G	c.(307-309)Cgc>Ggc	p.R103G		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	103					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTTTCTGTTCCGCAACCGGGG	0.697																																						ENST00000282928.4																			0				central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(307-309)Cgc>Ggc		Zic family member 1							13.0	16.0	15.0					3																	147128206		2062	4236	6298	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147128206C>G	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.307C>G	3.37:g.147128206C>G	ENSP00000282928:p.Arg103Gly						p.R103G	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			1	1036	+			103					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.307C>G	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	C	16.07	3.019298	0.54576	.	.	ENSG00000152977	ENST00000282928	D	0.88509	-2.39	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	D	0.91150	0.7213	M	0.66439	2.03	0.58432	D	0.999999	P	0.47484	0.896	P	0.51355	0.667	D	0.91843	0.5485	10	0.51188	T	0.08	.	16.4617	0.84056	0.0:1.0:0.0:0.0	.	103	Q15915	ZIC1_HUMAN	G	103	ENSP00000282928:R103G	ENSP00000282928:R103G	R	+	1	0	ZIC1	148610896	1.000000	0.71417	1.000000	0.80357	0.601000	0.36947	4.679000	0.61649	1.878000	0.54408	0.542000	0.68232	CGC		0.697	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		17	48	0	0	0	1	0	17	48				
SLC6A2	6530	broad.mit.edu	37	16	55730148	55730148	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:55730148G>T	ENST00000379906.2	+	8	1414	c.1159G>T	c.(1159-1161)Gtg>Ttg	p.V387L	SLC6A2_ENST00000568943.1_Missense_Mutation_p.V387L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V282L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V387L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V387L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V342L|SLC6A2_ENST00000219833.8_Missense_Mutation_p.V387L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	387					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGCTGGCCTAGTGTTCATCCT	0.512																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1159-1161)Gtg>Ttg		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						227.0	191.0	204.0					16																	55730148		2198	4300	6498	SO:0001583	missense	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730148G>T		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1159G>T	16.37:g.55730148G>T	ENSP00000369237:p.Val387Leu					SLC6A2_ENST00000219833.8_Missense_Mutation_p.V387L|SLC6A2_ENST00000561820.1_Missense_Mutation_p.V387L|SLC6A2_ENST00000414754.3_Missense_Mutation_p.V387L|SLC6A2_ENST00000566163.1_Missense_Mutation_p.V342L|SLC6A2_ENST00000567238.1_Missense_Mutation_p.V282L|SLC6A2_ENST00000568943.1_Missense_Mutation_p.V387L	p.V387L	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	8	1414	+			387					B2R707|B4DX48|Q96KH8	Missense_Mutation	SNP	ENST00000379906.2	37	c.1159G>T	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.455021	0.43634	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	T;T;T	0.74737	-0.87;-0.87;-0.87	4.38	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.71995	0.3406	L	0.55743	1.74	0.80722	D	1	B;B;B;B	0.22541	0.005;0.033;0.071;0.001	B;B;B;B	0.29785	0.032;0.044;0.107;0.019	T	0.69636	-0.5092	10	0.34782	T	0.22	.	16.1026	0.81194	0.0:0.0:1.0:0.0	.	387;101;282;387	Q96KH8;F5H0T4;B4DX48;P23975	.;.;.;SC6A2_HUMAN	L	387;101;387;387	ENSP00000394956:V387L;ENSP00000369237:V387L;ENSP00000219833:V387L	ENSP00000219833:V387L	V	+	1	0	SLC6A2	54287649	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	5.965000	0.70387	2.169000	0.68431	0.655000	0.94253	GTG		0.512	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			13	41	1	0	7.03913e-09	1	7.81617e-09	13	41				
TECPR2	9895	broad.mit.edu	37	14	102912180	102912180	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr14:102912180G>A	ENST00000359520.7	+	13	3197	c.2971G>A	c.(2971-2973)Ggg>Agg	p.G991R	TECPR2_ENST00000558678.1_Missense_Mutation_p.G991R	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	991					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATAACGCTCGGGGATCAGCA	0.542																																						ENST00000359520.7																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						c.(2971-2973)Ggg>Agg		tectonin beta-propeller repeat containing 2							107.0	104.0	105.0					14																	102912180		2203	4300	6503	SO:0001583	missense	9895						protein binding	g.chr14:102912180G>A	AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2971G>A	14.37:g.102912180G>A	ENSP00000352510:p.Gly991Arg					TECPR2_ENST00000558678.1_Missense_Mutation_p.G991R	p.G991R	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN			13	3197	+			991					A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	c.2971G>A	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	G	33	5.232610	0.95207	.	.	ENSG00000196663	ENST00000359520	T	0.80653	-1.4	5.34	5.34	0.76211	.	0.061533	0.64402	D	0.000005	D	0.89757	0.6807	M	0.76727	2.345	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.978;0.995;0.995	D	0.90590	0.4536	10	0.72032	D	0.01	.	19.0644	0.93104	0.0:0.0:1.0:0.0	.	174;991;991	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	R	991	ENSP00000352510:G991R	ENSP00000352510:G991R	G	+	1	0	TECPR2	101981933	1.000000	0.71417	0.945000	0.38365	0.756000	0.42949	9.612000	0.98347	2.496000	0.84212	0.655000	0.94253	GGG		0.542	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844		8	121	0	0	0	1	0	8	121				
PCLO	27445	broad.mit.edu	37	7	82451849	82451849	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:82451849G>T	ENST00000333891.9	-	20	15090	c.14753C>A	c.(14752-14754)gCt>gAt	p.A4918D	PCLO_ENST00000423517.2_Missense_Mutation_p.A4918D|PCLO_ENST00000426442.2_5'UTR	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						AGCTTCGGCAGCAGCTATGGC	0.502																																						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.(14752-14754)gCt>gAt		piccolo presynaptic cytomatrix protein							151.0	164.0	159.0					7																	82451849		2073	4209	6282	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82451849G>T	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.14753C>A	7.37:g.82451849G>T	ENSP00000334319:p.Ala4918Asp					PCLO_ENST00000333891.8_Missense_Mutation_p.A4918D|PCLO_ENST00000426442.2_5'UTR	p.A4918D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			20	15090	-			4780						Missense_Mutation	SNP	ENST00000333891.9	37	c.14753C>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380781	0.61845	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.19669	2.27;2.13	5.56	5.56	0.83823	.	.	.	.	.	T	0.30230	0.0758	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.99;0.994	D;D;P;P	0.91635	0.999;0.999;0.885;0.832	T	0.43572	-0.9383	9	0.87932	D	0	.	19.5157	0.95162	0.0:0.0:1.0:0.0	.	4918;4918;339;406	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	D	4918;4918;405	ENSP00000334319:A4918D;ENSP00000388393:A4918D	ENSP00000334319:A4918D	A	-	2	0	PCLO	82289785	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	6.592000	0.74095	2.610000	0.88304	0.655000	0.94253	GCT		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		82	129	1	0	5.71386e-39	1	7.1319e-39	82	129				
NDUFS7	374291	broad.mit.edu	37	19	1383927	1383927	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:1383927T>C	ENST00000233627.9	+	1	298	c.2T>C	c.(1-3)aTg>aCg	p.M1T	NDUFS7_ENST00000539480.1_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000546283.1_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000414651.2_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000313408.7_Start_Codon_SNP_p.M1T	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	1					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	Doxorubicin(DB00997)	GAGGCCAAGATGGCGGTGCTG	0.731																																						ENST00000313408.7																			0				ovary(1)	1						c.(1-3)aTg>aCg		NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						19.0	18.0	18.0					19																	1383927		2151	4242	6393	SO:0001582	initiator_codon_variant	374291				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr19:1383927T>C	AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.2T>C	19.37:g.1383927T>C	ENSP00000233627:p.Met1Thr					NDUFS7_ENST00000414651.2_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000546283.1_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000233627.9_Start_Codon_SNP_p.M1T|NDUFS7_ENST00000539480.1_Start_Codon_SNP_p.M1T	p.M1T			O75251	NDUS7_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)	1	25	+		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)	1					B3KRI2|Q2T9H7|Q9BV17	Translation_Start_Site	SNP	ENST00000233627.9	37	c.2T>C	CCDS12063.1	.	.	.	.	.	.	.	.	.	.	T	13.08	2.131148	0.37630	.	.	ENSG00000115286	ENST00000546283;ENST00000233627;ENST00000539480;ENST00000313408;ENST00000435801;ENST00000450862;ENST00000414651	T;T;T;T;T	0.72394	-0.17;-0.11;-0.13;-0.17;-0.65	4.24	4.24	0.50183	.	0.968564	0.08410	U	0.950015	T	0.64472	0.2601	.	.	.	0.80722	D	1	B;B;B	0.32467	0.372;0.118;0.118	B;B;B	0.30316	0.114;0.031;0.025	T	0.61589	-0.7032	9	0.87932	D	0	.	10.8017	0.46493	0.0:0.0:0.0:1.0	.	1;1;1	F5H5N1;B3KRI2;O75251	.;.;NDUS7_HUMAN	T	1	ENSP00000440348:M1T;ENSP00000233627:M1T;ENSP00000443273:M1T;ENSP00000364262:M1T;ENSP00000406630:M1T	ENSP00000233627:M1T	M	+	2	0	NDUFS7	1334927	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.160000	0.42348	1.763000	0.52060	0.459000	0.35465	ATG		0.731	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397984.1	NM_024407	Missense_Mutation	4	8	0	0	0	1	0	4	8				
SLCO1B3	28234	broad.mit.edu	37	12	21028329	21028329	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:21028329G>A	ENST00000381545.3	+	9	1107	c.888G>A	c.(886-888)ttG>ttA	p.L296L	SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Silent_p.L296L|LST3_ENST00000540229.1_Silent_p.L296L|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.L296L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	296					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)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	CACTATCATTGCATGTGCTGA	0.308																																						ENST00000381545.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(886-888)ttG>ttA		solute carrier organic anion transporter family, member 1B3							74.0	72.0	73.0					12																	21028329		2203	4300	6503	SO:0001819	synonymous_variant	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21028329G>A		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.888G>A	12.37:g.21028329G>A						SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Silent_p.L296L|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Silent_p.L296L|SLCO1B3_ENST00000553473.1_Silent_p.L296L	p.L296L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			9	1107	+	Esophageal squamous(101;0.149)		296					E7EMT8|Q5JAR4	Silent	SNP	ENST00000381545.3	37	c.888G>A	CCDS8684.1																																																																																				0.308	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		14	53	0	0	0	1	0	14	53				
LRRC37A16P	651250	broad.mit.edu	37	17	66126527	66126527	+	RNA	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:66126527G>A	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		GGCAAAGGAGGCAGGCCAACG	0.493																																						ENST00000590019.1																			0																																																			651250							g.chr17:66126527G>A			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66126527G>A														0	298	-									RNA	SNP	ENST00000590019.1	37																																																																																						0.493	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			9	35	0	0	0	1	0	9	35				
RPP38	10557	broad.mit.edu	37	10	15145770	15145770	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:15145770A>C	ENST00000378197.4	+	3	971	c.457A>C	c.(457-459)Agc>Cgc	p.S153R	RPP38_ENST00000378202.5_Missense_Mutation_p.S153R|NMT2_ENST00000466201.1_Intron|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	153					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GTTAAGCCTAAGCAGAAGTGT	0.502																																					GBM(118;1591 1611 9649 34378 50720)	ENST00000378197.4																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						c.(457-459)Agc>Cgc		ribonuclease P/MRP 38kDa subunit							107.0	96.0	100.0					10																	15145770		2203	4300	6503	SO:0001583	missense	10557				tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	g.chr10:15145770A>C	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.457A>C	10.37:g.15145770A>C	ENSP00000367439:p.Ser153Arg					RPP38_ENST00000378202.5_Missense_Mutation_p.S153R|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000466201.1_Intron	p.S153R	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN			3	971	+			153					B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	ENST00000378197.4	37	c.457A>C	CCDS7108.1	.	.	.	.	.	.	.	.	.	.	A	15.17	2.753336	0.49362	.	.	ENSG00000152464	ENST00000378203;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	5.68	4.53	0.55603	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.098046	0.64402	D	0.000002	T	0.61763	0.2373	L	0.54323	1.7	0.80722	D	1	D	0.54601	0.967	P	0.57720	0.826	T	0.61068	-0.7137	10	0.46703	T	0.11	-11.9828	12.2147	0.54400	0.8724:0.0:0.0:0.1276	.	153	P78345	RPP38_HUMAN	R	153	ENSP00000367445:S153R;ENSP00000367444:S153R;ENSP00000367439:S153R;ENSP00000402635:S153R	ENSP00000367439:S153R	S	+	1	0	RPP38	15185776	1.000000	0.71417	0.747000	0.31113	0.021000	0.10359	5.838000	0.69388	0.961000	0.38030	0.482000	0.46254	AGC		0.502	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046976.1	NM_006414		8	66	0	0	0	1	0	8	66				
HYDIN	54768	broad.mit.edu	37	16	71098723	71098723	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:71098723T>G	ENST00000393567.2	-	16	2246	c.2096A>C	c.(2095-2097)cAc>cCc	p.H699P	HYDIN_ENST00000321489.5_Missense_Mutation_p.H699P|HYDIN_ENST00000448691.1_Missense_Mutation_p.H699P|HYDIN_ENST00000538248.1_Missense_Mutation_p.H726P|HYDIN_ENST00000541601.1_Missense_Mutation_p.H716P|HYDIN_ENST00000448089.2_Missense_Mutation_p.H699P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	699					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATTGACCAGGTGGAGGGCAGG	0.498																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(2095-2097)cAc>cCc		HYDIN, axonemal central pair apparatus protein							25.0	23.0	24.0					16																	71098723		2197	4289	6486	SO:0001583	missense	54768							g.chr16:71098723T>G	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2096A>C	16.37:g.71098723T>G	ENSP00000377197:p.His699Pro					HYDIN_ENST00000321489.5_Missense_Mutation_p.H699P|HYDIN_ENST00000538248.1_Missense_Mutation_p.H726P|HYDIN_ENST00000448089.2_Missense_Mutation_p.H699P|HYDIN_ENST00000541601.1_Missense_Mutation_p.H716P|HYDIN_ENST00000448691.1_Missense_Mutation_p.H699P	p.H699P	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			16	2246	-		Ovarian(137;0.0654)	699					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.2096A>C	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	T	1.191	-0.635197	0.03584	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601	T;T;T;T;T;T	0.06294	3.32;3.32;3.32;3.32;3.32;3.32	4.8	-1.06	0.10002	.	1.031800	0.07825	U	0.960387	T	0.07818	0.0196	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.25521	0.075;0.075;0.075;0.128	B;B;B;B	0.30646	0.118;0.118;0.074;0.065	T	0.44390	-0.9331	10	0.33141	T	0.24	.	10.0843	0.42408	0.0:0.5621:0.0:0.4379	.	726;716;699;699	B4DRN4;F5H6V3;Q4G0P3-5;F8WD23	.;.;.;.	P	699;699;699;699;699;726;716	ENSP00000377197:H699P;ENSP00000398544:H699P;ENSP00000394826:H699P;ENSP00000314736:H699P;ENSP00000444970:H726P;ENSP00000437341:H716P	ENSP00000313052:H699P	H	-	2	0	HYDIN	69656224	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.992000	0.03724	-0.102000	0.12197	-0.394000	0.06481	CAC		0.498	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			4	19	0	0	0	1	0	4	19				
DSG1	1828	broad.mit.edu	37	18	28923454	28923454	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr18:28923454C>T	ENST00000257192.4	+	12	1941	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	DSG1_ENST00000462981.2_5'Flank|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA|RNU6-167P_ENST00000384292.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	577					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TGGAGGTGCTCCTCGTAGTGC	0.478																																						ENST00000257192.4																			0				NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(1729-1731)Cct>Tct		desmoglein 1							221.0	188.0	200.0					18																	28923454		2203	4300	6503	SO:0001583	missense	1828				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	g.chr18:28923454C>T	X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1729C>T	18.37:g.28923454C>T	ENSP00000257192:p.Pro577Ser					RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	p.P577S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00559)		12	1941	+			577					B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	c.1729C>T	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	C	1.491	-0.554643	0.03996	.	.	ENSG00000134760	ENST00000257192	T	0.52983	0.64	5.45	-6.39	0.01951	.	1.113020	0.06713	N	0.773606	T	0.28134	0.0694	L	0.38531	1.155	0.09310	N	0.999998	B	0.06786	0.001	B	0.06405	0.002	T	0.22765	-1.0207	10	0.14252	T	0.57	.	4.8725	0.13640	0.121:0.1454:0.5024:0.2312	.	577	Q02413	DSG1_HUMAN	S	577	ENSP00000257192:P577S	ENSP00000257192:P577S	P	+	1	0	DSG1	27177452	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-1.829000	0.01701	-0.975000	0.03546	-0.150000	0.13652	CCT		0.478	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942		28	89	0	0	0	1	0	28	89				
NUDT7	283927	broad.mit.edu	37	16	77775623	77775623	+	Missense_Mutation	SNP	C	C	T	rs541244539		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:77775623C>T	ENST00000268533.5	+	4	562	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R112C|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000563839.1_3'UTR	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	165	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				acetyl-CoA catabolic process (GO:0046356)|brown fat cell differentiation (GO:0050873)|coenzyme A catabolic process (GO:0015938)|nucleoside diphosphate metabolic process (GO:0009132)	peroxisome (GO:0005777)	acetyl-CoA hydrolase activity (GO:0003986)|hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides (GO:0016818)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|receptor binding (GO:0005102)|snoRNA binding (GO:0030515)			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						TTACGTCACACGTCTTGGTCA	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		19142	0.0		0.0	False		,,,				2504	0.001					ENST00000268533.5																			0				breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						c.(493-495)Cgt>Tgt		nudix (nucleoside diphosphate linked moiety X)-type motif 7							116.0	108.0	111.0					16																	77775623		1956	4157	6113	SO:0001583	missense	283927				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding	g.chr16:77775623C>T	AA227330	CCDS42195.1, CCDS58480.1, CCDS58479.1, CCDS73916.1	16q23.1	2007-06-15				ENSG00000140876		"""Nudix motif containing"""	8054	protein-coding gene	gene with protein product		609231				11415433	Standard	NM_001105663		Approved		uc010chd.3	P0C024		ENST00000268533.5:c.493C>T	16.37:g.77775623C>T	ENSP00000268533:p.Arg165Cys					NUDT7_ENST00000563839.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R112C|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000564031.1_3'UTR	p.R165C	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN			4	562	+			165			Nudix hydrolase.		B4DLE5|H3BUB8	Missense_Mutation	SNP	ENST00000268533.5	37	c.493C>T	CCDS42195.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492694	0.44352	.	.	ENSG00000140876	ENST00000268533;ENST00000437314	T;T	0.38887	1.11;1.11	5.3	-8.62	0.00881	NUDIX hydrolase domain (2);NUDIX hydrolase domain-like (1);	2.955220	0.00769	N	0.001198	T	0.48624	0.1510	M	0.81942	2.565	0.09310	N	0.999997	D;D	0.57571	0.969;0.98	P;P	0.51055	0.459;0.657	T	0.62300	-0.6883	10	0.39692	T	0.17	7.0906	5.8448	0.18659	0.4345:0.1404:0.0:0.4251	.	112;165	B4DLE5;P0C024	.;NUDT7_HUMAN	C	165;112	ENSP00000268533:R165C;ENSP00000387707:R112C	ENSP00000268533:R165C	R	+	1	0	NUDT7	76333124	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.960000	0.03849	-1.154000	0.02825	-1.087000	0.02190	CGT		0.483	NUDT7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433873.1			8	62	0	0	0	1	0	8	62				
VWC2	375567	broad.mit.edu	37	7	49951682	49951682	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:49951682G>T	ENST00000340652.4	+	4	1435	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ZPBP_ENST00000491129.1_Intron	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2	293					negative regulation of BMP signaling pathway (GO:0030514)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron differentiation (GO:0045666)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|basement membrane (GO:0005604)|cell junction (GO:0030054)|extracellular space (GO:0005615)|interstitial matrix (GO:0005614)|synapse (GO:0045202)				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						GAGAAGTGAAGACTGACGAGT	0.453																																						ENST00000340652.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						c.(877-879)aaG>aaT		von Willebrand factor C domain containing 2							115.0	100.0	105.0					7																	49951682		2203	4300	6503	SO:0001583	missense	375567				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space		g.chr7:49951682G>T	AY358393	CCDS5508.1	7p12.3-p12.2	2007-07-19			ENSG00000188730	ENSG00000188730			30200	protein-coding gene	gene with protein product	"""brorin"", ""brain-specific chordin-like"""	611108				17400546	Standard	NM_198570		Approved	PSST739, UNQ739	uc003tot.1	Q2TAL6	OTTHUMG00000129265	ENST00000340652.4:c.879G>T	7.37:g.49951682G>T	ENSP00000341819:p.Lys293Asn					ZPBP_ENST00000491129.1_Intron	p.K293N	NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN			4	1435	+			293					Q6UXE2	Missense_Mutation	SNP	ENST00000340652.4	37	c.879G>T	CCDS5508.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060955	0.55432	.	.	ENSG00000188730	ENST00000340652	T	0.32515	1.45	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.23611	0.0571	N	0.24115	0.695	0.80722	D	1	B	0.20780	0.048	B	0.21360	0.034	T	0.02774	-1.1112	10	0.37606	T	0.19	.	15.206	0.73180	0.0689:0.0:0.9311:0.0	.	293	Q2TAL6	VWC2_HUMAN	N	293	ENSP00000341819:K293N	ENSP00000341819:K293N	K	+	3	2	VWC2	49922228	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.810000	0.55613	2.751000	0.94390	0.650000	0.86243	AAG		0.453	VWC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251375.2	NM_198570		16	63	1	0	1.67942e-08	1	1.8409e-08	16	63				
NSD1	64324	broad.mit.edu	37	5	176637435	176637435	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr5:176637435C>T	ENST00000439151.2	+	5	2080	c.2035C>T	c.(2035-2037)Cag>Tag	p.Q679*	NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q410*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q576*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q410*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	679					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GTTATCTATGCAGAAAAATGA	0.393			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2035-2037)Cag>Tag		nuclear receptor binding SET domain protein 1							75.0	76.0	76.0					5																	176637435		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176637435C>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2035C>T	5.37:g.176637435C>T	ENSP00000395929:p.Gln679*	HNSCC(47;0.14)				NSD1_ENST00000347982.4_Nonsense_Mutation_p.Q410*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.Q410*|NSD1_ENST00000361032.4_Nonsense_Mutation_p.Q576*	p.Q679*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	2080	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	679					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2035C>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262336	0.80358	.	.	ENSG00000165671	ENST00000354179;ENST00000355783;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.1	4.17	0.49024	.	0.407374	0.23916	N	0.043299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1762	0.31283	0.1753:0.6555:0.1692:0.0	.	.	.	.	X	410;410;679;410;576	.	.	Q	+	1	0	NSD1	176570041	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	1.498000	0.35660	2.805000	0.96524	0.655000	0.94253	CAG		0.393	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		14	72	0	0	0	1	0	14	72				
HNRNPA1L2	144983	broad.mit.edu	37	13	53217364	53217364	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:53217364G>T	ENST00000357495.2	+	1	797	c.737G>T	c.(736-738)gGa>gTa	p.G246V	HNRNPA1L2_ENST00000342657.3_Missense_Mutation_p.G246V|HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G246V			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	246	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						ggctataatggatttggtaat	0.463																																						ENST00000342657.3																			0				cervix(1)|large_intestine(1)|lung(5)	7						c.(736-738)gGa>gTa		heterogeneous nuclear ribonucleoprotein A1-like 2							20.0	17.0	18.0					13																	53217364		1860	3594	5454	SO:0001583	missense	144983				mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding	g.chr13:53217364G>T		CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.737G>T	13.37:g.53217364G>T	ENSP00000350090:p.Gly246Val					HNRNPA1L2_ENST00000398039.1_Missense_Mutation_p.G246V|HNRNPA1L2_ENST00000357495.2_Missense_Mutation_p.G246V	p.G246V	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN			7	1810	+			246			Gly-rich.		Q5TBS2	Missense_Mutation	SNP	ENST00000357495.2	37	c.737G>T	CCDS31980.1	.	.	.	.	.	.	.	.	.	.	g	13.02	2.111464	0.37242	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	D;D;D	0.91295	-2.82;-2.82;-2.82	0.352	0.352	0.16051	.	.	.	.	.	D	0.94016	0.8083	M	0.84846	2.72	0.50171	D	0.999859	D	0.76494	0.999	D	0.76575	0.988	D	0.91856	0.5495	9	0.72032	D	0.01	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	246	Q32P51	RA1L2_HUMAN	V	246	ENSP00000341285:G246V;ENSP00000381119:G246V;ENSP00000350090:G246V	ENSP00000341285:G246V	G	+	2	0	HNRNPA1L2	52115365	0.000000	0.05858	0.976000	0.42696	0.426000	0.31534	0.381000	0.20619	0.455000	0.26910	0.089000	0.15464	GGA		0.463	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045098.1	NM_001011724		10	41	1	0	3.07112e-06	1	3.3029e-06	10	41				
KLHL1	57626	broad.mit.edu	37	13	70293535	70293535	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:70293535T>A	ENST00000377844.4	-	9	2740	c.1981A>T	c.(1981-1983)Aat>Tat	p.N661Y	KLHL1_ENST00000545028.1_Missense_Mutation_p.N468Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	661					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GAACAGTGATTTGAAGCAGGA	0.483																																						ENST00000377844.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1981-1983)Aat>Tat		kelch-like family member 1							121.0	113.0	116.0					13																	70293535		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70293535T>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1981A>T	13.37:g.70293535T>A	ENSP00000367075:p.Asn661Tyr					KLHL1_ENST00000545028.1_Missense_Mutation_p.N468Y	p.N661Y	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	9	2740	-		Breast(118;0.000162)	661					A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.1981A>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578815	0.65878	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.72394	-0.65;-0.42	5.68	5.68	0.88126	Galactose oxidase, beta-propeller (1);	0.000000	0.40908	D	0.000996	T	0.70290	0.3207	L	0.31926	0.97	0.52501	D	0.999953	P;B	0.44344	0.833;0.385	P;B	0.49085	0.6;0.366	T	0.74253	-0.3725	10	0.87932	D	0	.	15.9251	0.79609	0.0:0.0:0.0:1.0	.	661;661	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	Y	661;468	ENSP00000367075:N661Y;ENSP00000439602:N468Y	ENSP00000367075:N661Y	N	-	1	0	KLHL1	69191536	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.040000	0.89188	2.156000	0.67533	0.459000	0.35465	AAT		0.483	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866		56	57	0	0	0	1	0	56	57				
IGSF10	285313	broad.mit.edu	37	3	151165724	151165724	+	Missense_Mutation	SNP	T	T	C	rs371140788	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:151165724T>C	ENST00000282466.3	-	4	2044	c.2045A>G	c.(2044-2046)gAt>gGt	p.D682G		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	682					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGGACTCATCAAGTCCAGA	0.468													T|||	5	0.000998403	0.0	0.0	5008	,	,		20190	0.005		0.0	False		,,,				2504	0.0					ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2044-2046)gAt>gGt		immunoglobulin superfamily, member 10							86.0	87.0	87.0					3																	151165724		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165724T>C	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2045A>G	3.37:g.151165724T>C	ENSP00000282466:p.Asp682Gly						p.D682G	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2044	-			682					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2045A>G	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	T	8.370	0.835000	0.16820	.	.	ENSG00000152580	ENST00000282466	T	0.69435	-0.4	5.26	-0.052	0.13824	.	0.728775	0.11733	N	0.534778	T	0.47192	0.1432	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.13407	0.009	T	0.25537	-1.0129	10	0.23302	T	0.38	.	9.6128	0.39674	0.0:0.2682:0.0:0.7318	.	682	Q6WRI0	IGS10_HUMAN	G	682	ENSP00000282466:D682G	ENSP00000282466:D682G	D	-	2	0	IGSF10	152648414	0.002000	0.14202	0.000000	0.03702	0.045000	0.14185	0.221000	0.17680	-0.237000	0.09739	-0.346000	0.07831	GAT		0.468	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		9	78	0	0	0	1	0	9	78				
CCT8L2	150160	broad.mit.edu	37	22	17071795	17071795	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr22:17071795G>A	ENST00000359963.3	-	1	1905	c.1646C>T	c.(1645-1647)aCa>aTa	p.T549I		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	549					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATTTTTTTTGTTTCCACAGG	0.403																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(1645-1647)aCa>aTa		chaperonin containing TCP1, subunit 8 (theta)-like 2							100.0	95.0	97.0					22																	17071795		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17071795G>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.1646C>T	22.37:g.17071795G>A	ENSP00000353048:p.Thr549Ile						p.T549I	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1905	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	549					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.1646C>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	g	0.023	-1.398383	0.01175	.	.	ENSG00000198445	ENST00000359963	T	0.56275	0.47	0.296	-0.592	0.11671	.	.	.	.	.	T	0.26340	0.0643	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.01281	0.0	T	0.13926	-1.0491	8	0.87932	D	0	0.3167	.	.	.	.	549	Q96SF2	TCPQM_HUMAN	I	549	ENSP00000353048:T549I	ENSP00000353048:T549I	T	-	2	0	CCT8L2	15451795	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	0.192000	0.17096	-1.111000	0.02988	-1.150000	0.01838	ACA		0.403	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			24	90	0	0	0	1	0	24	90				
ALDH3A2	224	broad.mit.edu	37	17	19561060	19561060	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:19561060G>T	ENST00000176643.6	+	5	1129	c.683G>T	c.(682-684)cGc>cTc	p.R228L	ALDH3A2_ENST00000395575.2_Missense_Mutation_p.R228L|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.R228L|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.R228L|ALDH3A2_ENST00000579855.1_Missense_Mutation_p.R228L			P51648	AL3A2_HUMAN	aldehyde dehydrogenase 3 family, member A2	228			R -> C (in SLS; severe loss of activity; dbSNP:rs72547566). {ECO:0000269|PubMed:10577908}.		cellular aldehyde metabolic process (GO:0006081)|central nervous system development (GO:0007417)|epidermis development (GO:0008544)|oxidation-reduction process (GO:0055114)|peripheral nervous system development (GO:0007422)|phytol metabolic process (GO:0033306)|sesquiterpenoid metabolic process (GO:0006714)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)|peroxisome (GO:0005777)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|long-chain-alcohol oxidase activity (GO:0046577)|long-chain-aldehyde dehydrogenase activity (GO:0050061)|medium-chain-aldehyde dehydrogenase activity (GO:0052814)			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)					CCCCTCAGACGCATAACCTGG	0.368																																						ENST00000176643.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1)	13						c.(682-684)cGc>cTc		aldehyde dehydrogenase 3 family, member A2	NADH(DB00157)						91.0	87.0	88.0					17																	19561060		2203	4300	6503	SO:0001583	missense	224				cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development	endoplasmic reticulum membrane|integral to membrane	3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19561060G>T	L47162	CCDS11210.1, CCDS32589.1	17p11.2	2010-05-07			ENSG00000072210	ENSG00000072210	1.2.1.3	"""Aldehyde dehydrogenases"""	403	protein-coding gene	gene with protein product	"""fatty aldehyde dehydrogenase"""	609523		SLS, ALDH10		7894487	Standard	NM_000382		Approved	FALDH	uc002gwa.1	P51648	OTTHUMG00000059471	ENST00000176643.6:c.683G>T	17.37:g.19561060G>T	ENSP00000176643:p.Arg228Leu					ALDH3A2_ENST00000579855.1_Missense_Mutation_p.R228L|ALDH3A2_ENST00000395575.2_Missense_Mutation_p.R228L|ALDH3A2_ENST00000581518.1_Missense_Mutation_p.R228L|ALDH3A2_ENST00000339618.4_Missense_Mutation_p.R228L	p.R228L			P51648	AL3A2_HUMAN			5	1129	+	all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245)		228		R -> C (in SLS; severe loss of activity).			Q6I9T3|Q93011|Q96J37	Missense_Mutation	SNP	ENST00000176643.6	37	c.683G>T	CCDS11210.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771597	0.49680	.	.	ENSG00000072210	ENST00000176643;ENST00000395575;ENST00000339618	T;T;T	0.76186	-1.0;-1.0;-1.0	5.33	4.35	0.52113	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.91222	0.5007	10	0.87932	D	0	-14.3991	13.4897	0.61388	0.0772:0.0:0.9228:0.0	.	228;228	P51648;P51648-2	AL3A2_HUMAN;.	L	228	ENSP00000176643:R228L;ENSP00000378942:R228L;ENSP00000345774:R228L	ENSP00000176643:R228L	R	+	2	0	ALDH3A2	19501652	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	7.905000	0.87416	2.509000	0.84616	0.557000	0.71058	CGC		0.368	ALDH3A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132268.1			25	25	1	0	1.66031e-10	1	1.89275e-10	25	25				
ZNF536	9745	broad.mit.edu	37	19	30935718	30935718	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:30935718G>A	ENST00000355537.3	+	2	1396	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	417					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCATGGGCGGCATGTCCCA	0.632																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(1249-1251)Ggc>Agc		zinc finger protein 536							40.0	41.0	40.0					19																	30935718		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935718G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1249G>A	19.37:g.30935718G>A	ENSP00000347730:p.Gly417Ser						p.G417S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1396	+	Esophageal squamous(110;0.0834)		417					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.1249G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.424384	0.01126	.	.	ENSG00000198597	ENST00000355537	T	0.07688	3.17	5.44	-1.87	0.07737	.	0.423208	0.29646	N	0.011566	T	0.03178	0.0093	N	0.08118	0	0.32898	D	0.512732	B;B	0.11235	0.004;0.004	B;B	0.04013	0.001;0.001	T	0.48514	-0.9029	10	0.06757	T	0.87	-10.0924	11.438	0.50078	0.6518:0.0:0.3482:0.0	.	417;417	A7E228;O15090	.;ZN536_HUMAN	S	417	ENSP00000347730:G417S	ENSP00000347730:G417S	G	+	1	0	ZNF536	35627558	1.000000	0.71417	0.849000	0.33467	0.929000	0.56500	1.766000	0.38491	-0.465000	0.06953	-0.218000	0.12543	GGC		0.632	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		41	43	0	0	0	1	0	41	43				
PRPF8	10594	broad.mit.edu	37	17	1555043	1555043	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:1555043G>C	ENST00000572621.1	-	39	6674	c.6409C>G	c.(6409-6411)Ccc>Gcc	p.P2137A	PRPF8_ENST00000304992.6_Missense_Mutation_p.P2137A|PRPF8_ENST00000575116.1_5'UTR|RILP_ENST00000301336.6_5'Flank			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	2137	MPN.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCACCTGGGGGTTATCTGGT	0.567																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(6409-6411)Ccc>Gcc		pre-mRNA processing factor 8							138.0	141.0	140.0					17																	1555043		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1555043G>C	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.6409C>G	17.37:g.1555043G>C	ENSP00000460348:p.Pro2137Ala					PRPF8_ENST00000304992.6_Missense_Mutation_p.P2137A|PRPF8_ENST00000575116.1_5'UTR	p.P2137A			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	39	6674	-			2137			MPN.		O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.6409C>G	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.186071	0.57909	.	.	ENSG00000174231	ENST00000304992	T	0.79352	-1.26	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.80660	0.4665	M	0.80508	2.5	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.77073	-0.2723	10	0.49607	T	0.09	-5.1742	19.3968	0.94610	0.0:0.0:1.0:0.0	.	2137	Q6P2Q9	PRP8_HUMAN	A	2137	ENSP00000304350:P2137A	ENSP00000304350:P2137A	P	-	1	0	PRPF8	1501793	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.527000	0.98044	2.565000	0.86533	0.655000	0.94253	CCC		0.567	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			68	197	0	0	0	1	0	68	197				
PRPF8	10594	broad.mit.edu	37	17	1585429	1585429	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:1585429T>G	ENST00000572621.1	-	3	693	c.428A>C	c.(427-429)cAg>cCg	p.Q143P	PRPF8_ENST00000304992.6_Missense_Mutation_p.Q143P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	143					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACCCCCACTGGGAGATGTA	0.532																																						ENST00000572621.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(427-429)cAg>cCg		pre-mRNA processing factor 8							92.0	78.0	83.0					17																	1585429		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1585429T>G	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.428A>C	17.37:g.1585429T>G	ENSP00000460348:p.Gln143Pro					PRPF8_ENST00000304992.6_Missense_Mutation_p.Q143P	p.Q143P			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	3	693	-			143					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.428A>C	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.163953	0.78226	.	.	ENSG00000174231	ENST00000304992	T	0.52983	0.64	5.6	5.6	0.85130	Pre-mRNA-processing-splicing factor 8 (2);	0.000000	0.85682	D	0.000000	T	0.76912	0.4054	M	0.93283	3.4	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.83707	0.0185	10	0.87932	D	0	.	15.7878	0.78322	0.0:0.0:0.0:1.0	.	143	Q6P2Q9	PRP8_HUMAN	P	143	ENSP00000304350:Q143P	ENSP00000304350:Q143P	Q	-	2	0	PRPF8	1532179	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	7.799000	0.85936	2.135000	0.66039	0.454000	0.30748	CAG		0.532	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			11	31	0	0	0	1	0	11	31				
TRIM24	8805	broad.mit.edu	37	7	138265313	138265313	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:138265313G>A	ENST00000343526.4	+	16	2807	c.2592G>A	c.(2590-2592)gaG>gaA	p.E864E	TRIM24_ENST00000415680.2_Silent_p.E830E			O15164	TIF1A_HUMAN	tripartite motif containing 24	864					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACAGTGGAGAGTGGATTTGCA	0.408																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	ENST00000343526.4																			0				breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						c.(2590-2592)gaG>gaA		tripartite motif containing 24							222.0	204.0	210.0					7																	138265313		2203	4300	6503	SO:0001819	synonymous_variant	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138265313G>A	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.2592G>A	7.37:g.138265313G>A						TRIM24_ENST00000415680.2_Silent_p.E830E	p.E864E			O15164	TIF1A_HUMAN			16	2807	+			864					A4D1R7|A4D1R8|O95854	Silent	SNP	ENST00000343526.4	37	c.2592G>A	CCDS5847.1																																																																																				0.408	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		21	151	0	0	0	1	0	21	151				
MAGEB1	4112	broad.mit.edu	37	X	30269040	30269040	+	Missense_Mutation	SNP	G	G	A	rs201687675		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chrX:30269040G>A	ENST00000378981.3	+	4	751	c.430G>A	c.(430-432)Gat>Aat	p.D144N	MAGEB1_ENST00000397548.2_Missense_Mutation_p.D144N|MAGEB1_ENST00000397550.1_Missense_Mutation_p.D144N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	144	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.			DH -> EY (in Ref. 7; AAH13772). {ECO:0000305}.						NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AAAGTACAAGGATCACTTCAC	0.473																																						ENST00000378981.3																			0				NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						c.(430-432)Gat>Aat		melanoma antigen family B, 1							65.0	50.0	55.0					X																	30269040		2202	4300	6502	SO:0001583	missense	4112							g.chrX:30269040G>A		CCDS14222.1	Xp21.3	2009-03-17			ENSG00000214107	ENSG00000214107			6808	protein-coding gene	gene with protein product	"""DSS/AHC critical interval MAGE superfamily 10"", ""cancer/testis antigen family 3, member 1"""	300097				7761436, 9441743	Standard	NM_002363		Approved	MAGEL1, MAGE-Xp, DAM10, MGC9322, CT3.1	uc004dce.3	P43366	OTTHUMG00000021322	ENST00000378981.3:c.430G>A	X.37:g.30269040G>A	ENSP00000368264:p.Asp144Asn					MAGEB1_ENST00000397548.2_Missense_Mutation_p.D144N|MAGEB1_ENST00000397550.1_Missense_Mutation_p.D144N	p.D144N	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN			4	751	+			144	DH -> EY (in Ref. 7; AAH13772).		MAGE.		B2RC79|O00601|O75862|Q6FHJ0|Q96CW8	Missense_Mutation	SNP	ENST00000378981.3	37	c.430G>A	CCDS14222.1	.	.	.	.	.	.	.	.	.	.	G	5.508	0.278763	0.10458	.	.	ENSG00000214107	ENST00000378981;ENST00000397550;ENST00000397548	T;T;T	0.04551	3.6;3.6;3.6	3.98	-1.49	0.08718	.	0.622091	0.16419	N	0.215248	T	0.03220	0.0094	N	0.20483	0.58	0.09310	N	1	B	0.33345	0.409	B	0.41135	0.348	T	0.45454	-0.9260	10	0.15499	T	0.54	.	4.0933	0.09980	0.3456:0.3301:0.3243:0.0	.	144	P43366	MAGB1_HUMAN	N	144	ENSP00000368264:D144N;ENSP00000380683:D144N;ENSP00000380681:D144N	ENSP00000368264:D144N	D	+	1	0	MAGEB1	30178961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.065000	0.11617	-0.480000	0.06803	-0.215000	0.12644	GAT		0.473	MAGEB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056160.1	NM_002363		8	13	0	0	0	1	0	8	13				
NRBP1	29959	broad.mit.edu	37	2	27657998	27657998	+	Splice_Site	SNP	A	A	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:27657998A>T	ENST00000233557.3	+	8	1398		c.e8-1		NRBP1_ENST00000379863.3_Splice_Site|NRBP1_ENST00000379852.3_Splice_Site			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1						ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					GTGCCCCCACAGCTACCTGCA	0.577																																						ENST00000233557.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.e8-1		nuclear receptor binding protein 1							79.0	71.0	74.0					2																	27657998		2203	4300	6503	SO:0001630	splice_region_variant	29959				ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity	g.chr2:27657998A>T	AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.567-1A>T	2.37:g.27657998A>T						NRBP1_ENST00000379852.3_Splice_Site|NRBP1_ENST00000379863.3_Splice_Site				Q9UHY1	NRBP_HUMAN			8	1398	+	Acute lymphoblastic leukemia(172;0.155)							B3KV40|D6W558|Q53FZ5|Q96SU3	Splice_Site	SNP	ENST00000233557.3	37		CCDS1753.1	.	.	.	.	.	.	.	.	.	.	A	18.59	3.656939	0.67586	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6211	0.68584	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NRBP1	27511502	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.879000	0.92398	2.130000	0.65690	0.533000	0.62120	.		0.577	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215033.1	NM_013392	Intron	13	62	0	0	0	1	0	13	62				
SETBP1	26040	broad.mit.edu	37	18	42530804	42530804	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr18:42530804C>T	ENST00000282030.5	+	4	1795	c.1499C>T	c.(1498-1500)cCa>cTa	p.P500L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	500						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCGCGGAAGCCACCCATGGTC	0.488									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(1498-1500)cCa>cTa		SET binding protein 1							76.0	76.0	76.0					18																	42530804		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42530804C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.1499C>T	18.37:g.42530804C>T	ENSP00000282030:p.Pro500Leu						p.P500L	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	1795	+			500					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.1499C>T	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305731	0.40795	.	.	ENSG00000152217	ENST00000282030	T	0.68765	-0.35	6.08	5.21	0.72293	.	0.400099	0.27792	N	0.017829	T	0.48059	0.1479	N	0.14661	0.345	0.40343	D	0.979058	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.54805	T	0.06	.	9.1653	0.37048	0.0:0.8382:0.0:0.1618	.	500	Q9Y6X0	SETBP_HUMAN	L	500	ENSP00000282030:P500L	ENSP00000282030:P500L	P	+	2	0	SETBP1	40784802	0.667000	0.27484	1.000000	0.80357	0.980000	0.70556	3.407000	0.52644	1.591000	0.50007	0.655000	0.94253	CCA		0.488	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		28	61	0	0	0	1	0	28	61				
SEC24B	10427	broad.mit.edu	37	4	110451618	110451618	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:110451618C>G	ENST00000265175.5	+	19	3305	c.3250C>G	c.(3250-3252)Cag>Gag	p.Q1084E	SEC24B_ENST00000399100.2_Missense_Mutation_p.Q1049E|SEC24B_ENST00000504968.2_Missense_Mutation_p.Q1114E	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1084					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCTTCTCAAACAGGTAGCTTT	0.358																																						ENST00000265175.5																			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(3250-3252)Cag>Gag		SEC24 family member B							118.0	105.0	109.0					4																	110451618		1856	4112	5968	SO:0001583	missense	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110451618C>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.3250C>G	4.37:g.110451618C>G	ENSP00000265175:p.Gln1084Glu					SEC24B_ENST00000399100.2_Missense_Mutation_p.Q1049E|SEC24B_ENST00000504968.2_Missense_Mutation_p.Q1114E	p.Q1084E	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	19	3305	+		Hepatocellular(203;0.217)	1084					B7ZKM8|B7ZKN4|Q0VG08	Missense_Mutation	SNP	ENST00000265175.5	37	c.3250C>G	CCDS47124.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633504	0.87660	.	.	ENSG00000138802	ENST00000504968;ENST00000399100;ENST00000265175	D;D;D	0.88975	-2.45;-2.45;-2.45	4.94	4.94	0.65067	Sec23/Sec24, helical domain (2);	0.056011	0.64402	D	0.000001	D	0.93497	0.7925	M	0.80028	2.48	0.80722	D	1	D;P;D;D;D	0.60575	0.988;0.951;0.988;0.984;0.988	P;P;P;P;P	0.57324	0.668;0.561;0.818;0.654;0.818	D	0.93815	0.7113	10	0.52906	T	0.07	-8.377	18.5312	0.90993	0.0:1.0:0.0:0.0	.	998;683;1114;1049;1084	B4DTM6;B4E2E1;B7ZKM8;O95487-2;O95487	.;.;.;.;SC24B_HUMAN	E	1114;1049;1084	ENSP00000428564:Q1114E;ENSP00000382051:Q1049E;ENSP00000265175:Q1084E	ENSP00000265175:Q1084E	Q	+	1	0	SEC24B	110671067	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.818000	0.86416	2.456000	0.83038	0.650000	0.86243	CAG		0.358	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			8	35	0	0	0	1	0	8	35				
CCDC150	284992	broad.mit.edu	37	2	197583259	197583259	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:197583259G>T	ENST00000389175.4	+	18	2034	c.1899G>T	c.(1897-1899)gaG>gaT	p.E633D	CCDC150_ENST00000409270.1_Missense_Mutation_p.E120D|CCDC150_ENST00000272831.7_Missense_Mutation_p.E280D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	633										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GTAAAGAGGAGCTGTCCCGAA	0.383																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1897-1899)gaG>gaT		coiled-coil domain containing 150							67.0	66.0	67.0					2																	197583259		1885	4107	5992	SO:0001583	missense	284992							g.chr2:197583259G>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1899G>T	2.37:g.197583259G>T	ENSP00000373827:p.Glu633Asp					CCDC150_ENST00000272831.7_Missense_Mutation_p.E280D|CCDC150_ENST00000409270.1_Missense_Mutation_p.E120D	p.E633D	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			18	2034	+			633					Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1899G>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	12.02	1.812004	0.32053	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T;T;T	0.53640	0.61;0.61;0.61	4.61	1.54	0.23209	.	0.069844	0.52532	D	0.000068	T	0.43831	0.1265	N	0.21448	0.665	0.80722	D	1	B;D;B	0.67145	0.002;0.996;0.0	B;D;B	0.72625	0.006;0.978;0.003	T	0.35400	-0.9790	10	0.23302	T	0.38	-11.859	4.0812	0.09927	0.2:0.0:0.6172:0.1828	.	50;280;633	B4DWS7;B4DZ03;Q8NCX0	.;.;CC150_HUMAN	D	280;633;120	ENSP00000272831:E280D;ENSP00000373827:E633D;ENSP00000387257:E120D	ENSP00000272831:E280D	E	+	3	2	CCDC150	197291504	0.984000	0.35163	0.996000	0.52242	0.911000	0.54048	0.003000	0.13083	0.645000	0.30675	0.585000	0.79938	GAG		0.383	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		15	19	1	0	0.000219431	1	0.000227411	15	19				
CGN	57530	broad.mit.edu	37	1	151491621	151491621	+	Missense_Mutation	SNP	G	G	A	rs371835042	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:151491621G>A	ENST00000271636.7	+	2	759	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	203	Head.|Interacts with ZO-2.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTGAACAGCGCAAACGGAGC	0.592													G|||	3	0.000599042	0.0015	0.0	5008	,	,		17306	0.0		0.0	False		,,,				2504	0.001					ENST00000271636.7																			0				NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(625-627)cGc>cAc		cingulin		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	88.0	98.0	94.0		626	5.2	1.0	1		94	0,8600		0,0,4300	no	missense	CGN	NM_020770.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	209/1204	151491621	1,13005	2203	4300	6503	SO:0001583	missense	57530					myosin complex|tight junction	actin binding|motor activity	g.chr1:151491621G>A	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.626G>A	1.37:g.151491621G>A	ENSP00000271636:p.Arg209His						p.R209H	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	759	+	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		203			Head.|Interacts with ZO-2.		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	37	c.626G>A	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.779128	0.90195	2.27E-4	0.0	ENSG00000143375	ENST00000427934;ENST00000271636	T;T	0.74632	0.46;-0.86	5.18	5.18	0.71444	.	0.222303	0.30969	N	0.008503	T	0.81226	0.4778	M	0.64997	1.995	0.51482	D	0.999928	D	0.89917	1.0	D	0.68621	0.959	T	0.78932	-0.2009	9	.	.	.	-11.7608	17.8166	0.88637	0.0:0.0:1.0:0.0	.	203	Q9P2M7	CING_HUMAN	H	209	ENSP00000410836:R209H;ENSP00000271636:R209H	.	R	+	2	0	CGN	149758245	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.055000	0.64282	2.873000	0.98535	0.561000	0.74099	CGC		0.592	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770		5	302	0	0	0	1	0	5	302				
TRPM6	140803	broad.mit.edu	37	9	77407569	77407569	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:77407569C>T	ENST00000360774.1	-	19	2746	c.2509G>A	c.(2509-2511)Gct>Act	p.A837T	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A837T|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.A832T|TRPM6_ENST00000361255.3_Missense_Mutation_p.A832T|TRPM6_ENST00000451710.3_Missense_Mutation_p.A837T	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	837					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACAATTGGAGCACTGTAGAAC	0.403																																						ENST00000451710.3																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						c.(2509-2511)Gct>Act		transient receptor potential cation channel, subfamily M, member 6							149.0	129.0	136.0					9																	77407569		2203	4300	6503	SO:0001583	missense	140803				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr9:77407569C>T	AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.2509G>A	9.37:g.77407569C>T	ENSP00000354006:p.Ala837Thr					TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.A837T|TRPM6_ENST00000449912.2_Missense_Mutation_p.A832T|TRPM6_ENST00000360774.1_Missense_Mutation_p.A837T|TRPM6_ENST00000361255.3_Missense_Mutation_p.A832T	p.A837T			Q9BX84	TRPM6_HUMAN			19	2746	-			837					Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Missense_Mutation	SNP	ENST00000360774.1	37	c.2509G>A	CCDS6647.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.903061	0.92035	.	.	ENSG00000119121	ENST00000360774;ENST00000451710;ENST00000449912;ENST00000361255;ENST00000376864;ENST00000312449;ENST00000448641	T;T;T;T;T	0.75050	-0.9;-0.9;-0.9;-0.9;-0.9	5.88	4.98	0.66077	.	0.045144	0.85682	D	0.000000	D	0.88789	0.6532	M	0.91038	3.17	0.58432	D	0.999999	D;D	0.89917	1.0;0.957	D;D	0.83275	0.996;0.913	D	0.91353	0.5106	10	0.87932	D	0	.	15.0847	0.72142	0.0:0.9321:0.0:0.0679	.	837;832	Q9BX84;Q9BX84-3	TRPM6_HUMAN;.	T	837;837;832;832;837;500;500	ENSP00000354006:A837T;ENSP00000407341:A837T;ENSP00000396672:A832T;ENSP00000354962:A832T;ENSP00000366060:A837T	ENSP00000309693:A500T	A	-	1	0	TRPM6	76597389	1.000000	0.71417	0.907000	0.35723	0.810000	0.45777	4.984000	0.63838	1.508000	0.48769	0.637000	0.83480	GCT		0.403	TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662		9	43	0	0	0	1	0	9	43				
TRAPPC9	83696	broad.mit.edu	37	8	141461050	141461050	+	Silent	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:141461050G>A	ENST00000438773.2	-	2	556	c.423C>T	c.(421-423)tgC>tgT	p.C141C	TRAPPC9_ENST00000389327.3_Silent_p.C141C|TRAPPC9_ENST00000389328.4_Silent_p.C239C	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	141					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCACCGTCTGGCAGTCCTCGT	0.577																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(715-717)tgC>tgT		trafficking protein particle complex 9							66.0	58.0	61.0					8																	141461050		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141461050G>A	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.423C>T	8.37:g.141461050G>A						TRAPPC9_ENST00000389327.3_Silent_p.C141C|TRAPPC9_ENST00000438773.2_Silent_p.C141C	p.C239C	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			2	731	-			141					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.717C>T	CCDS55278.1																																																																																				0.577	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		15	39	0	0	0	1	0	15	39				
SLC34A2	10568	broad.mit.edu	37	4	25664203	25664203	+	Silent	SNP	T	T	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:25664203T>G	ENST00000382051.3	+	2	131	c.81T>G	c.(79-81)acT>acG	p.T27T	SLC34A2_ENST00000504570.1_Silent_p.T27T|SLC34A2_ENST00000503434.1_Silent_p.T27T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	27					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGCAGCCCACTGCCCCTGATA	0.552			T	ROS1	NSCLC																																	ENST00000382051.3				Dom	yes		4	4p15.2	10568	T	"""solute carrier family 34 (sodium phosphate), member 2"""			E	ROS1		NSCLC	SLC34A2/ROS1(14)	0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41						c.(79-81)acT>acG		solute carrier family 34 (type II sodium/phosphate contransporter), member 2							78.0	79.0	78.0					4																	25664203		2203	4300	6503	SO:0001819	synonymous_variant	10568				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	g.chr4:25664203T>G	AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.81T>G	4.37:g.25664203T>G						SLC34A2_ENST00000503434.1_Silent_p.T27T|SLC34A2_ENST00000504570.1_Silent_p.T27T	p.T27T	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN			2	131	+		Breast(46;0.0503)	27					A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Silent	SNP	ENST00000382051.3	37	c.81T>G	CCDS3435.1																																																																																				0.552	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214990.1	NM_006424		4	91	0	0	0	1	0	4	91				
DNMT1	1786	broad.mit.edu	37	19	10249128	10249128	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:10249128T>C	ENST00000340748.4	-	34	4289	c.4054A>G	c.(4054-4056)Agc>Ggc	p.S1352G	DNMT1_ENST00000589538.1_5'Flank|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1352G|DNMT1_ENST00000359526.4_Missense_Mutation_p.S1368G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1352	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	GTTATGTTGCTCACAAACTTC	0.632																																						ENST00000340748.4																			0				breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70						c.(4054-4056)Agc>Ggc		DNA (cytosine-5-)-methyltransferase 1	Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)						91.0	79.0	83.0					19																	10249128		2203	4300	6503	SO:0001583	missense	1786				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding	g.chr19:10249128T>C	X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.4054A>G	19.37:g.10249128T>C	ENSP00000345739:p.Ser1352Gly					DNMT1_ENST00000359526.4_Missense_Mutation_p.S1368G|DNMT1_ENST00000540357.1_Missense_Mutation_p.S1352G	p.S1352G			P26358	DNMT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		34	4289	-			1352			Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Missense_Mutation	SNP	ENST00000340748.4	37	c.4054A>G	CCDS12228.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.483225	0.44147	.	.	ENSG00000130816	ENST00000359526;ENST00000540357;ENST00000340748;ENST00000541266	D;D;D	0.84660	-1.88;-1.88;-1.88	5.55	3.41	0.39046	.	0.039275	0.85682	D	0.000000	T	0.80686	0.4670	L	0.45581	1.43	0.48830	D	0.999716	B;B;B	0.21688	0.047;0.047;0.059	B;B;B	0.31495	0.08;0.08;0.131	T	0.74028	-0.3796	10	0.72032	D	0.01	.	7.6535	0.28363	0.0:0.0752:0.1408:0.784	.	1352;1368;1352	F5GX68;P26358-2;P26358	.;.;DNMT1_HUMAN	G	1368;1352;1352;1220	ENSP00000352516:S1368G;ENSP00000440457:S1352G;ENSP00000345739:S1352G	ENSP00000345739:S1352G	S	-	1	0	DNMT1	10110128	1.000000	0.71417	0.997000	0.53966	0.516000	0.34256	7.672000	0.83956	0.361000	0.24292	-0.290000	0.09829	AGC		0.632	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379		18	70	0	0	0	1	0	18	70				
IQUB	154865	broad.mit.edu	37	7	123150065	123150065	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:123150065C>G	ENST00000466202.1	-	3	998	c.422G>C	c.(421-423)gGc>gCc	p.G141A	IQUB_ENST00000324698.6_Missense_Mutation_p.G141A|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.G141A	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	141	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						AATTTCCTGGCCCACTGGAAT	0.318																																						ENST00000466202.1																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						c.(421-423)gGc>gCc		IQ motif and ubiquitin domain containing							93.0	107.0	102.0					7																	123150065		2202	4291	6493	SO:0001583	missense	154865							g.chr7:123150065C>G	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.422G>C	7.37:g.123150065C>G	ENSP00000417769:p.Gly141Ala					IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.G141A|IQUB_ENST00000324698.6_Missense_Mutation_p.G141A	p.G141A			Q8NA54	IQUB_HUMAN			3	998	-			141			Ubiquitin-like.		A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	37	c.422G>C	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	C	10.01	1.234408	0.22626	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.56275	0.47;0.47;0.47	4.88	2.92	0.33932	Ubiquitin supergroup (1);	0.337622	0.24271	N	0.039996	T	0.43277	0.1240	M	0.61703	1.905	0.24542	N	0.994061	B;B;B	0.21225	0.053;0.002;0.002	B;B;B	0.19666	0.026;0.002;0.004	T	0.23190	-1.0195	10	0.26408	T	0.33	.	5.1584	0.15048	0.0:0.6067:0.2682:0.1251	.	141;141;141	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	A	141	ENSP00000417769:G141A;ENSP00000324882:G141A;ENSP00000388498:G141A	ENSP00000324882:G141A	G	-	2	0	IQUB	122937301	0.168000	0.22989	0.959000	0.39883	0.761000	0.43186	-0.123000	0.10611	1.278000	0.44430	0.561000	0.74099	GGC		0.318	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827		19	123	0	0	0	1	0	19	123				
LRP12	29967	broad.mit.edu	37	8	105509420	105509420	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:105509420C>T	ENST00000276654.5	-	5	1468	c.1360G>A	c.(1360-1362)Gga>Aga	p.G454R	LRP12_ENST00000424843.2_Missense_Mutation_p.G435R|LRP12_ENST00000518375.1_5'Flank	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	454	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGGAAATTTCCTGGTTGGCAA	0.418																																						ENST00000276654.5																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48						c.(1360-1362)Gga>Aga		low density lipoprotein receptor-related protein 12							100.0	95.0	97.0					8																	105509420		2203	4300	6503	SO:0001583	missense	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105509420C>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1360G>A	8.37:g.105509420C>T	ENSP00000276654:p.Gly454Arg					LRP12_ENST00000424843.2_Missense_Mutation_p.G435R	p.G454R	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		5	1468	-			454			LDL-receptor class A 5.		A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	37	c.1360G>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987648	0.74589	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.95518	-3.73;-3.73;-3.73	5.79	5.79	0.91817	.	0.050348	0.85682	D	0.000000	D	0.97015	0.9025	M	0.66506	2.035	0.80722	D	1	P;P	0.52577	0.944;0.954	P;P	0.57720	0.733;0.826	D	0.97146	0.9828	10	0.87932	D	0	-26.8328	20.0498	0.97621	0.0:1.0:0.0:0.0	.	435;454	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	R	435;454;43	ENSP00000399148:G435R;ENSP00000276654:G454R;ENSP00000429305:G43R	ENSP00000276654:G454R	G	-	1	0	LRP12	105578596	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.079000	0.71291	2.753000	0.94483	0.557000	0.71058	GGA		0.418	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		25	79	0	0	0	1	0	25	79				
PSPH	5723	broad.mit.edu	37	7	56084927	56084927	+	Splice_Site	SNP	C	C	A	rs534946771		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:56084927C>A	ENST00000395471.3	-	6	1226	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C	PSPH_ENST00000275605.3_Splice_Site_p.G141C|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	141					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AACATCTTACCGTTAAAGTAG	0.383																																						ENST00000395471.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11						c.e6+1		phosphoserine phosphatase							102.0	80.0	88.0					7																	56084927		2203	4300	6503	SO:0001630	splice_region_variant	5723				L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity	g.chr7:56084927C>A	Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.421+1G>T	7.37:g.56084927C>A						PSPH_ENST00000459834.1_Intron|PSPH_ENST00000275605.3_Splice_Site_p.G141_splice	p.G141_splice			P78330	SERB_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		6	1226	-	Breast(14;0.214)		141					B2RCR5|Q7Z3S5	Splice_Site	SNP	ENST00000395471.3	37	c.421_splice	CCDS5522.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172514	0.78452	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.87650	-2.28;-2.28;-2.28	4.85	4.85	0.62838	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96448	0.8841	H	0.98866	4.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98452	1.0592	9	.	.	.	-15.016	17.1115	0.86676	0.0:1.0:0.0:0.0	.	141;141	Q53EY1;P78330	.;SERB_HUMAN	C	141	ENSP00000275605:G141C;ENSP00000378854:G141C;ENSP00000398653:G141C	.	G	-	1	0	PSPH	56052421	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	5.841000	0.69409	2.297000	0.77311	0.579000	0.79373	GGT		0.383	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343304.1	NM_004577	Missense_Mutation	15	208	1	0	2.31682e-05	1	2.44553e-05	15	208				
RNF40	9810	broad.mit.edu	37	16	30780842	30780842	+	Missense_Mutation	SNP	G	G	A	rs564561453		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:30780842G>A	ENST00000324685.6	+	17	2942	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	RNF40_ENST00000402121.3_Missense_Mutation_p.R528Q|RNF40_ENST00000357890.5_Missense_Mutation_p.R736Q|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000563683.1_Missense_Mutation_p.R796Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	836					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GAGAAGGAGCGAGCCTTGCAG	0.647																																						ENST00000324685.6																			0				central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30						c.(2506-2508)cGa>cAa		ring finger protein 40, E3 ubiquitin protein ligase							34.0	30.0	31.0					16																	30780842		2197	4300	6497	SO:0001583	missense	9810				histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding	g.chr16:30780842G>A	AB014561	CCDS10691.1, CCDS55994.1	16p11.2-p11.1	2012-02-23	2012-02-23		ENSG00000103549	ENSG00000103549		"""RING-type (C3HC4) zinc fingers"""	16867	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog B (S. cerevisiae)"""	607700	"""ring finger protein 40"""			9734811, 10944455, 12121982	Standard	NM_014771		Approved	KIAA0661, RBP95, BRE1B, STARING	uc002dzq.3	O75150	OTTHUMG00000132394	ENST00000324685.6:c.2507G>A	16.37:g.30780842G>A	ENSP00000325677:p.Arg836Gln					RNF40_ENST00000563683.1_Missense_Mutation_p.R796Q|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Missense_Mutation_p.R736Q|RNF40_ENST00000402121.3_Missense_Mutation_p.R528Q	p.R836Q	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	Colorectal(24;0.198)		17	2942	+			836					Q6AHZ6|Q6N005|Q7L3T6|Q8N615|Q96T18|Q9BSV9|Q9HC82	Missense_Mutation	SNP	ENST00000324685.6	37	c.2507G>A	CCDS10691.1	.	.	.	.	.	.	.	.	.	.	g	15.97	2.988730	0.53934	.	.	ENSG00000103549	ENST00000324685;ENST00000357890;ENST00000402121;ENST00000538323	T;T;T	0.33865	1.39;1.4;1.42	6.06	6.06	0.98353	.	0.054195	0.64402	D	0.000001	T	0.37237	0.0996	M	0.64170	1.965	0.58432	D	0.999993	B;P;P;B;B	0.41159	0.384;0.474;0.74;0.05;0.134	B;B;B;B;B	0.31390	0.083;0.075;0.129;0.007;0.012	T	0.37619	-0.9698	10	0.66056	D	0.02	-21.8092	19.4005	0.94627	0.0:0.0:1.0:0.0	.	168;528;736;836;836	F6SYU7;F8W8Z4;O75150-4;A8K6K1;O75150	.;.;.;.;BRE1B_HUMAN	Q	836;736;528;168	ENSP00000325677:R836Q;ENSP00000350563:R736Q;ENSP00000384942:R528Q	ENSP00000325677:R836Q	R	+	2	0	RNF40	30688343	1.000000	0.71417	1.000000	0.80357	0.239000	0.25481	5.183000	0.65065	2.880000	0.98712	0.651000	0.88453	CGA		0.647	RNF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255524.2	NM_014771		15	35	0	0	0	1	0	15	35				
SLIT2	9353	broad.mit.edu	37	4	20512713	20512713	+	Silent	SNP	T	T	C	rs112603988		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:20512713T>C	ENST00000504154.1	+	11	1263	c.1011T>C	c.(1009-1011)tcT>tcC	p.S337S	SLIT2_ENST00000273739.5_Silent_p.S341S|SLIT2_ENST00000503837.1_Silent_p.S341S|SLIT2_ENST00000503823.1_Silent_p.S337S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	337					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATCAGATCTCTGAACTTGCAC	0.408																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1009-1011)tcT>tcC		slit homolog 2 (Drosophila)							114.0	109.0	111.0					4																	20512713		2203	4300	6503	SO:0001819	synonymous_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20512713T>C	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1011T>C	4.37:g.20512713T>C						SLIT2_ENST00000503837.1_Silent_p.S341S|SLIT2_ENST00000273739.5_Silent_p.S341S|SLIT2_ENST00000503823.1_Silent_p.S337S	p.S337S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			11	1263	+			337					B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	37	c.1011T>C	CCDS3426.1																																																																																				0.408	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			12	28	0	0	0	1	0	12	28				
MYL4	4635	broad.mit.edu	37	17	45299098	45299098	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:45299098C>T	ENST00000354968.1	+	5	492	c.364C>T	c.(364-366)Cac>Tac	p.H122Y	MYL4_ENST00000393450.1_Missense_Mutation_p.H122Y|MYL4_ENST00000572316.1_Missense_Mutation_p.H122Y|snoU13_ENST00000516279.1_RNA	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN	myosin, light chain 4, alkali; atrial, embryonic	122					cardiac muscle contraction (GO:0060048)|muscle filament sliding (GO:0030049)|positive regulation of ATPase activity (GO:0032781)|regulation of the force of heart contraction (GO:0002026)	A band (GO:0031672)|cytosol (GO:0005829)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|calcium ion binding (GO:0005509)|myosin II heavy chain binding (GO:0032038)			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						CATCCTGCAGCACATTTCCCG	0.527																																						ENST00000354968.1																			0				endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						c.(364-366)Cac>Tac		myosin, light chain 4, alkali; atrial, embryonic							165.0	136.0	146.0					17																	45299098		2203	4300	6503	SO:0001583	missense	4635				cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle	g.chr17:45299098C>T		CCDS11510.1	17q21.32	2013-09-19	2006-09-29		ENSG00000198336	ENSG00000198336		"""Myosins / Light chain"", ""EF-hand domain containing"""	7585	protein-coding gene	gene with protein product	"""myosin, atrial/fetal muscle, light chain"""	160770	"""myosin, light polypeptide 4, alkali; atrial, embryonic"""			3417683	Standard	NM_002476		Approved	ALC1, AMLC, GT1, PRO1957	uc002ilg.3	P12829	OTTHUMG00000178232	ENST00000354968.1:c.364C>T	17.37:g.45299098C>T	ENSP00000347055:p.His122Tyr					MYL4_ENST00000393450.1_Missense_Mutation_p.H122Y|MYL4_ENST00000572316.1_Missense_Mutation_p.H122Y	p.H122Y	NM_001002841.1	NP_001002841.1	P12829	MYL4_HUMAN			5	492	+			122					D3DXJ7|P11783	Missense_Mutation	SNP	ENST00000354968.1	37	c.364C>T	CCDS11510.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199003	0.58126	.	.	ENSG00000198336	ENST00000354968;ENST00000393450	D;D	0.86432	-2.12;-2.12	5.23	5.23	0.72850	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	M	0.90252	3.1	0.51767	D	0.999934	D	0.69078	0.997	D	0.66351	0.943	D	0.90771	0.4672	10	0.07644	T	0.81	-24.6542	12.3974	0.55393	0.0:0.8304:0.1696:0.0	.	122	P12829	MYL4_HUMAN	Y	122	ENSP00000347055:H122Y;ENSP00000377096:H122Y	ENSP00000347055:H122Y	H	+	1	0	MYL4	42654097	0.999000	0.42202	0.998000	0.56505	0.979000	0.70002	0.711000	0.25764	2.581000	0.87130	0.555000	0.69702	CAC		0.527	MYL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441059.1	NM_001002841		29	102	0	0	0	1	0	29	102				
FAM155A	728215	broad.mit.edu	37	13	108518105	108518105	+	Silent	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:108518105T>C	ENST00000375915.2	-	1	978	c.840A>G	c.(838-840)gaA>gaG	p.E280E		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	280						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTTCAAACTCTTCGTATTTCT	0.532																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(838-840)gaA>gaG		family with sequence similarity 155, member A							117.0	109.0	112.0					13																	108518105		2203	4300	6503	SO:0001819	synonymous_variant	728215					integral to membrane	binding	g.chr13:108518105T>C	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.840A>G	13.37:g.108518105T>C							p.E280E	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	978	-			280					B2RUV1|B7Z334	Silent	SNP	ENST00000375915.2	37	c.840A>G	CCDS32006.1																																																																																				0.532	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		73	73	0	0	0	1	0	73	73				
IFT140	9742	broad.mit.edu	37	16	1561057	1561057	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:1561057C>T	ENST00000426508.2	-	31	4640	c.4277G>A	c.(4276-4278)gGg>gAg	p.G1426E	IFT140_ENST00000361339.5_Missense_Mutation_p.G620E|LA16c-385E7.1_ENST00000566922.1_lincRNA	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1426					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GAGACCCAGCCCCCGGTGCAC	0.677																																						ENST00000426508.2																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53						c.(4276-4278)gGg>gAg		intraflagellar transport 140 homolog (Chlamydomonas)							44.0	37.0	39.0					16																	1561057		2194	4297	6491	SO:0001583	missense	9742							g.chr16:1561057C>T	AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4277G>A	16.37:g.1561057C>T	ENSP00000406012:p.Gly1426Glu					IFT140_ENST00000361339.5_Missense_Mutation_p.G620E	p.G1426E	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN			31	4640	-		Hepatocellular(780;0.219)	1426					A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	c.4277G>A	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	C	10.21	1.288284	0.23478	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.56776	1.62;0.44	4.55	2.47	0.30058	.	0.308379	0.26688	N	0.023019	T	0.45216	0.1331	L	0.57536	1.79	0.34947	D	0.750828	B;B	0.28636	0.08;0.218	B;B	0.24848	0.017;0.056	T	0.49844	-0.8896	10	0.13470	T	0.59	.	14.0226	0.64565	0.0:0.5842:0.4158:0.0	.	1426;1113	Q96RY7;B4DR58	IF140_HUMAN;.	E	1426;620;1426	ENSP00000354895:G620E;ENSP00000406012:G1426E	ENSP00000354895:G620E	G	-	2	0	IFT140	1501058	0.998000	0.40836	0.993000	0.49108	0.017000	0.09413	1.868000	0.39509	0.302000	0.22762	0.563000	0.77884	GGG		0.677	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		3	24	0	0	0	1	0	3	24				
OR4A15	81328	broad.mit.edu	37	11	55135817	55135817	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr11:55135817C>T	ENST00000314706.3	+	1	458	c.458C>T	c.(457-459)gCc>gTc	p.A153V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	153						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CGATACATGGCCATCTGTAAG	0.433																																						ENST00000314706.3																			0				NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						c.(457-459)gCc>gTc		olfactory receptor, family 4, subfamily A, member 15							209.0	194.0	199.0					11																	55135817		2201	4296	6497	SO:0001583	missense	81328				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55135817C>T	AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.458C>T	11.37:g.55135817C>T	ENSP00000325065:p.Ala153Val						p.A153V	NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN			1	458	+			153					Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	c.458C>T	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	18.13	3.555476	0.65425	.	.	ENSG00000181958	ENST00000314706	T	0.01228	5.14	3.48	3.48	0.39840	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000133	T	0.14874	0.0359	H	0.98005	4.125	0.38071	D	0.936369	D	0.89917	1.0	D	0.83275	0.996	T	0.26815	-1.0092	10	0.87932	D	0	.	12.5491	0.56216	0.0:1.0:0.0:0.0	.	153	Q8NGL6	O4A15_HUMAN	V	153	ENSP00000325065:A153V	ENSP00000325065:A153V	A	+	2	0	OR4A15	54892393	1.000000	0.71417	0.977000	0.42913	0.346000	0.29079	6.526000	0.73799	1.785000	0.52413	0.492000	0.49549	GCC		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275		54	159	0	0	0	1	0	54	159				
CR1L	1379	broad.mit.edu	37	1	207891009	207891009	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:207891009C>T	ENST00000508064.2	+	11	1675	c.1615C>T	c.(1615-1617)Cct>Tct	p.P539S		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	539	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGCCCTGCCCCTCGCTGTGA	0.522																																						ENST00000508064.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1615-1617)Cct>Tct		complement component (3b/4b) receptor 1-like							136.0	137.0	137.0					1																	207891009		1980	4151	6131	SO:0001583	missense	1379					cytoplasm|extracellular region|membrane		g.chr1:207891009C>T	AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1615C>T	1.37:g.207891009C>T	ENSP00000421736:p.Pro539Ser						p.P539S	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN			11	1675	+			539			Sushi 8.		Q32MC9|Q8NEU7	Missense_Mutation	SNP	ENST00000508064.2	37	c.1615C>T	CCDS44310.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242724	0.39598	.	.	ENSG00000197721	ENST00000508064	T	0.76968	-1.06	2.86	1.93	0.25924	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.92218	0.7532	H	0.99705	4.715	0.09310	N	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.81344	-0.0975	9	0.72032	D	0.01	.	6.5765	0.22569	0.0:0.8459:0.0:0.1541	.	539	Q2VPA4	CR1L_HUMAN	S	539	ENSP00000421736:P539S	ENSP00000421736:P539S	P	+	1	0	CR1L	205957632	0.997000	0.39634	0.072000	0.20136	0.184000	0.23303	1.884000	0.39668	0.494000	0.27859	-0.680000	0.03767	CCT		0.522	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390247.1	XM_114735		35	92	0	0	0	1	0	35	92				
ZNF835	90485	broad.mit.edu	37	19	57176162	57176162	+	Missense_Mutation	SNP	C	C	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr19:57176162C>A	ENST00000537055.2	-	2	636	c.405G>T	c.(403-405)gaG>gaT	p.E135D		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	135					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)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CAAATGGCTTCTCCCCGGTGT	0.637																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(403-405)gaG>gaT		zinc finger protein 835							55.0	66.0	62.0					19																	57176162		2203	4300	6503	SO:0001583	missense	90485							g.chr19:57176162C>A	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.405G>T	19.37:g.57176162C>A	ENSP00000444747:p.Glu135Asp						p.E135D	NM_001005850.2	NP_001005850.2					2	636	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.405G>T	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800130	0.50208	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.26810	1.71	2.79	1.74	0.24563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29093	0.0723	M	0.68593	2.085	0.24636	N	0.993594	B	0.33477	0.413	B	0.40329	0.326	T	0.33420	-0.9869	9	0.62326	D	0.03	.	4.0846	0.09942	0.0:0.61:0.2459:0.1441	.	157	Q9Y2P0	ZN835_HUMAN	D	157;135	ENSP00000444747:E135D	ENSP00000341756:E157D	E	-	3	2	ZNF835	61867974	0.000000	0.05858	0.919000	0.36401	0.621000	0.37620	-0.534000	0.06150	0.512000	0.28257	0.561000	0.74099	GAG		0.637	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		28	74	1	0	1.2476e-16	1	1.51305e-16	28	74				
TMEM132D	121256	broad.mit.edu	37	12	129563105	129563105	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:129563105G>C	ENST00000422113.2	-	8	2415	c.2089C>G	c.(2089-2091)Cag>Gag	p.Q697E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q235E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	697					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGAAGTTCCTGAGCCACTGCA	0.592																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(2089-2091)Cag>Gag		transmembrane protein 132D							110.0	100.0	104.0					12																	129563105		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129563105G>C	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.2089C>G	12.37:g.129563105G>C	ENSP00000408581:p.Gln697Glu					TMEM132D_ENST00000389441.4_Missense_Mutation_p.Q235E	p.Q697E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	8	2415	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	697					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2089C>G	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	6.177	0.400898	0.11696	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.42900	0.96;0.96	4.79	3.9	0.45041	.	0.314592	0.29730	N	0.011354	T	0.34164	0.0888	L	0.35288	1.05	0.38758	D	0.954254	P;B	0.41131	0.739;0.415	B;B	0.41510	0.359;0.112	T	0.14035	-1.0487	9	.	.	.	-31.9759	12.9297	0.58280	0.079:0.0:0.921:0.0	.	697;235	Q14C87;Q14C87-2	T132D_HUMAN;.	E	235;697	ENSP00000374092:Q235E;ENSP00000408581:Q697E	.	Q	-	1	0	TMEM132D	128129058	1.000000	0.71417	0.421000	0.26609	0.046000	0.14306	6.373000	0.73128	1.001000	0.39076	-0.253000	0.11424	CAG		0.592	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		16	86	0	0	0	1	0	16	86				
LMX1A	4009	broad.mit.edu	37	1	165218665	165218665	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:165218665C>T	ENST00000342310.3	-	4	858	c.476G>A	c.(475-477)aGc>aAc	p.S159N	LMX1A_ENST00000294816.2_Missense_Mutation_p.S159N|LMX1A_ENST00000367893.4_Missense_Mutation_p.S159N	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	159					axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					GGCTGCTGGGCTCACCAGGCT	0.602																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(475-477)aGc>aAc		LIM homeobox transcription factor 1, alpha							61.0	57.0	58.0					1																	165218665		2203	4300	6503	SO:0001583	missense	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165218665C>T	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.476G>A	1.37:g.165218665C>T	ENSP00000340226:p.Ser159Asn					LMX1A_ENST00000294816.2_Missense_Mutation_p.S159N|LMX1A_ENST00000367893.4_Missense_Mutation_p.S159N	p.S159N	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			4	858	-	all_hematologic(923;0.248)		159					B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	Missense_Mutation	SNP	ENST00000342310.3	37	c.476G>A	CCDS1247.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863840	0.91511	.	.	ENSG00000162761	ENST00000342310;ENST00000294816;ENST00000367893	D;D;D	0.87729	-2.29;-2.29;-2.29	4.61	4.61	0.57282	.	0.089123	0.85682	D	0.000000	D	0.89656	0.6778	L	0.49778	1.585	0.47819	D	0.999524	D	0.71674	0.998	D	0.79784	0.993	D	0.89589	0.3826	9	0.48119	T	0.1	.	16.3806	0.83460	0.0:1.0:0.0:0.0	.	159	Q8TE12	LMX1A_HUMAN	N	159	ENSP00000340226:S159N;ENSP00000294816:S159N;ENSP00000356868:S159N	ENSP00000294816:S159N	S	-	2	0	LMX1A	163485289	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.120000	0.77153	2.395000	0.81488	0.585000	0.79938	AGC		0.602	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		7	70	0	0	0	1	0	7	70				
PIGU	128869	broad.mit.edu	37	20	33232018	33232018	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr20:33232018G>C	ENST00000374820.2	-	3	228	c.208C>G	c.(208-210)Ctc>Gtc	p.L70V	PIGU_ENST00000452740.2_Missense_Mutation_p.L90V			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	90					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATAGCAGTGAGTGCATCAGTT	0.408																																						ENST00000374820.2																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						c.(208-210)Ctc>Gtc		phosphatidylinositol glycan anchor biosynthesis, class U							118.0	110.0	113.0					20																	33232018		2203	4300	6503	SO:0001583	missense	128869				attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane		g.chr20:33232018G>C	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.208C>G	20.37:g.33232018G>C	ENSP00000363953:p.Leu70Val					PIGU_ENST00000452740.2_Missense_Mutation_p.L90V	p.L70V			Q9H490	PIGU_HUMAN			3	228	-			90					Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37	c.208C>G		.	.	.	.	.	.	.	.	.	.	G	14.59	2.581680	0.46006	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	5.39	4.43	0.53597	.	0.135812	0.50627	D	0.000106	T	0.40145	0.1105	L	0.28115	0.83	0.48975	D	0.999734	B;P;P	0.42203	0.094;0.732;0.773	B;B;B	0.38985	0.133;0.189;0.287	T	0.21724	-1.0237	9	0.30078	T	0.28	.	14.7156	0.69265	0.0:0.0:0.8536:0.1464	.	90;70;90	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	V	90;70;90	.	ENSP00000217446:L90V	L	-	1	0	PIGU	32695679	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.260000	0.58835	1.405000	0.46838	0.563000	0.77884	CTC		0.408	PIGU-201	KNOWN	basic	protein_coding	protein_coding		NM_080476		10	71	0	0	0	1	0	10	71				
POLR1A	25885	broad.mit.edu	37	2	86327274	86327274	+	Missense_Mutation	SNP	A	A	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:86327274A>C	ENST00000263857.6	-	2	477	c.99T>G	c.(97-99)atT>atG	p.I33M	POLR1A_ENST00000409681.1_Missense_Mutation_p.I33M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	33					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GAGGGTTCGTAATGGATTTAA	0.468																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(97-99)atT>atG		polymerase (RNA) I polypeptide A, 194kDa							77.0	79.0	78.0					2																	86327274		1877	4114	5991	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86327274A>C	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.99T>G	2.37:g.86327274A>C	ENSP00000263857:p.Ile33Met					POLR1A_ENST00000409681.1_Missense_Mutation_p.I33M	p.I33M			O95602	RPA1_HUMAN			2	477	-			33					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.99T>G	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866477	0.51588	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	T;T	0.33438	1.41;1.41	5.93	-0.515	0.11954	RNA polymerase Rpb1, domain 1 (1);	0.051490	0.85682	D	0.000000	T	0.52125	0.1715	M	0.91249	3.19	0.44388	D	0.997296	D;D	0.76494	0.999;0.984	D;D	0.69479	0.964;0.933	T	0.49826	-0.8898	10	0.87932	D	0	-17.2656	3.3203	0.07048	0.2545:0.1201:0.4572:0.1682	.	33;33	B9ZVN9;O95602	.;RPA1_HUMAN	M	33	ENSP00000263857:I33M;ENSP00000386300:I33M	ENSP00000263857:I33M	I	-	3	3	POLR1A	86180785	1.000000	0.71417	0.990000	0.47175	0.958000	0.62258	0.850000	0.27737	-0.048000	0.13401	-0.371000	0.07208	ATT		0.468	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		8	52	0	0	0	1	0	8	52				
TUBBP5	643224	broad.mit.edu	37	9	141070695	141070695	+	RNA	SNP	G	G	A	rs183702666	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr9:141070695G>A	ENST00000503395.1	+	0	1470									tubulin, beta pseudogene 5									p.R105H(1)									GCCAAGGGACGCTACACCGAA	0.592													.|||	1260	0.251597	0.2526	0.2939	5008	,	,		9939	0.125		0.339	False		,,,				2504	0.2607					ENST00000503395.1																			1	Substitution - Missense(1)	p.R105H(1)	prostate(1)																																																643224							g.chr9:141070695G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070695G>A														0	1470	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.592	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		4	17	0	0	0	1	0	4	17				
ABTB1	80325	broad.mit.edu	37	3	127398902	127398902	+	Silent	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:127398902C>T	ENST00000232744.8	+	11	1190	c.1104C>T	c.(1102-1104)tgC>tgT	p.C368C	ABTB1_ENST00000453791.2_Silent_p.C226C|ABTB1_ENST00000393363.3_Silent_p.C226C|ABTB1_ENST00000468137.1_Silent_p.C226C					ankyrin repeat and BTB (POZ) domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGAGGCTGTGCGGCCGCAGCC	0.642																																						ENST00000468137.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						c.(676-678)tgC>tgT		ankyrin repeat and BTB (POZ) domain containing 1							123.0	122.0	122.0					3																	127398902		2203	4300	6503	SO:0001819	synonymous_variant	80325					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity	g.chr3:127398902C>T	AB053324	CCDS3045.1, CCDS46901.1	3q21	2013-01-10			ENSG00000114626	ENSG00000114626		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	18275	protein-coding gene	gene with protein product		608308				10891360, 11494141	Standard	NM_172027		Approved	BPOZ, EF1ABP, Btb3, BTBD21	uc003ejt.3	Q969K4	OTTHUMG00000159636	ENST00000232744.8:c.1104C>T	3.37:g.127398902C>T						ABTB1_ENST00000232744.8_Silent_p.C368C|ABTB1_ENST00000393363.3_Silent_p.C226C|ABTB1_ENST00000453791.2_Silent_p.C226C	p.C226C			Q969K4	ABTB1_HUMAN			10	1294	+			368						Silent	SNP	ENST00000232744.8	37	c.678C>T	CCDS3045.1																																																																																				0.642	ABTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356595.1	NM_172027		5	274	0	0	0	1	0	5	274				
EPHB4	2050	broad.mit.edu	37	7	100417799	100417799	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:100417799G>A	ENST00000358173.3	-	5	1396	c.928C>T	c.(928-930)Cgg>Tgg	p.R310W	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000360620.3_Missense_Mutation_p.R310W|EPHB4_ENST00000477446.1_5'UTR	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	310	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGCGTGCCCGGAAGTACCCG	0.637																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(928-930)Cgg>Tgg		EPH receptor B4							83.0	92.0	89.0					7																	100417799		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417799G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.928C>T	7.37:g.100417799G>A	ENSP00000350896:p.Arg310Trp					EPHB4_ENST00000360620.3_Missense_Mutation_p.R310W|EPHB4_ENST00000477446.1_5'UTR	p.R310W	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			5	1396	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		310			Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.928C>T	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535113	0.85812	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	D;D	0.97505	-4.41;-4.41	5.35	3.52	0.40303	Fibronectin, type III (1);	0.000000	0.47455	D	0.000235	D	0.98713	0.9568	H	0.94306	3.52	0.54753	D	0.999985	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.992;0.992;0.981;0.995	D	0.98931	1.0787	10	0.87932	D	0	.	12.6689	0.56857	0.0:0.0:0.7006:0.2994	.	310;310;310;310	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	W	310	ENSP00000353833:R310W;ENSP00000350896:R310W	ENSP00000350896:R310W	R	-	1	2	EPHB4	100255735	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.855000	0.55957	0.604000	0.29930	0.655000	0.94253	CGG		0.637	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		5	193	0	0	0	1	0	5	193				
SLC29A3	55315	broad.mit.edu	37	10	73122036	73122036	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:73122036G>A	ENST00000373189.5	+	6	1151	c.1099G>A	c.(1099-1101)Gcc>Acc	p.A367T	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	367					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GCAGCTCACCGCCTGGATCCA	0.597																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1099-1101)Gcc>Acc		solute carrier family 29 (equilibrative nucleoside transporter), member 3							140.0	133.0	136.0					10																	73122036		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73122036G>A	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.1099G>A	10.37:g.73122036G>A	ENSP00000362285:p.Ala367Thr					SLC29A3_ENST00000469204.1_3'UTR	p.A367T	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN			6	1151	+			367					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.1099G>A	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	G	19.21	3.783027	0.70222	.	.	ENSG00000198246	ENST00000373189	T	0.66099	-0.19	5.62	5.62	0.85841	.	0.424930	0.24909	N	0.034623	T	0.79015	0.4375	M	0.83312	2.635	0.46096	D	0.998865	D	0.61697	0.99	P	0.57468	0.821	T	0.80883	-0.1183	9	0.56958	D	0.05	-30.5387	19.6592	0.95857	0.0:0.0:1.0:0.0	.	367	Q9BZD2	S29A3_HUMAN	T	367	ENSP00000362285:A367T	ENSP00000362285:A367T	A	+	1	0	SLC29A3	72792042	1.000000	0.71417	0.948000	0.38648	0.417000	0.31264	5.728000	0.68531	2.653000	0.90120	0.655000	0.94253	GCC		0.597	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	NM_018344		5	183	0	0	0	1	0	5	183				
ZNF733P	643955	broad.mit.edu	37	7	62753183	62753183	+	RNA	SNP	G	G	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr7:62753183G>T	ENST00000331425.6	-	0	252					NR_003952.1				zinc finger protein 733, pseudogene																		AAGGTCTTGGGTGAAATGGGA	0.338																																						ENST00000331425.6																			0																																																			643955							g.chr7:62753183G>T			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62753183G>T								NR_003952.1						0	252	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.338	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			37	82	1	0	3.61848e-18	1	4.41971e-18	37	82				
USP19	10869	broad.mit.edu	37	3	49153322	49153322	+	Silent	SNP	T	T	C			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr3:49153322T>C	ENST00000398888.2	-	10	1536	c.1218A>G	c.(1216-1218)tcA>tcG	p.S406S	USP19_ENST00000453664.1_Silent_p.S497S|USP19_ENST00000417901.1_Silent_p.S509S|USP19_ENST00000434032.2_Silent_p.S507S|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398898.2_Silent_p.S446S|USP19_ENST00000398892.3_Silent_p.S446S|USP19_ENST00000398896.1_Silent_p.S214S	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	406					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGGTGGGGTTGAATCCAGAG	0.602																																						ENST00000453664.1																			0				NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(1489-1491)tcA>tcG		ubiquitin specific peptidase 19							59.0	61.0	61.0					3																	49153322		1976	4145	6121	SO:0001819	synonymous_variant	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153322T>C	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1218A>G	3.37:g.49153322T>C						USP19_ENST00000434032.2_Silent_p.S507S|USP19_ENST00000398898.2_Silent_p.S446S|USP19_ENST00000417901.1_Silent_p.S509S|USP19_ENST00000398888.2_Silent_p.S406S|USP19_ENST00000398892.3_Silent_p.S446S|USP19_ENST00000398896.1_Silent_p.S214S	p.S497S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	11	1809	-			406					A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Silent	SNP	ENST00000398888.2	37	c.1491A>G	CCDS43090.1	.	.	.	.	.	.	.	.	.	.	T	6.307	0.424736	0.11987	.	.	ENSG00000172046	ENST00000425298	.	.	.	6.17	5.02	0.67125	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60306	-0.7289	5	0.38643	T	0.18	-0.0073	10.1703	0.42906	0.0:0.1363:0.0:0.8637	.	.	.	.	D	494	.	ENSP00000412679:N494D	N	-	1	0	USP19	49128326	0.995000	0.38212	0.990000	0.47175	0.984000	0.73092	1.201000	0.32259	1.155000	0.42497	0.533000	0.62120	AAC		0.602	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		20	41	0	0	0	1	0	20	41				
MYCBP2	23077	broad.mit.edu	37	13	77779509	77779509	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr13:77779509C>T	ENST00000544440.2	-	26	3628	c.3611G>A	c.(3610-3612)gGa>gAa	p.G1204E	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1204E|MYCBP2_ENST00000407578.2_Missense_Mutation_p.G1242E					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ACCCCAGCCTCCTCCATGACC	0.368																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(3724-3726)gGa>gAa		MYC binding protein 2, E3 ubiquitin protein ligase							68.0	68.0	68.0					13																	77779509		2203	4299	6502	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77779509C>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.3611G>A	13.37:g.77779509C>T	ENSP00000444596:p.Gly1204Glu					MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.G1204E|MYCBP2_ENST00000357337.6_Missense_Mutation_p.G1204E	p.G1242E	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	26	3991	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	1204						Missense_Mutation	SNP	ENST00000544440.2	37	c.3725G>A		.	.	.	.	.	.	.	.	.	.	C	14.01	2.407908	0.42715	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.36157	1.27;1.27;1.27	5.25	4.4	0.53042	PHR (1);	0.067325	0.64402	D	0.000015	T	0.49474	0.1559	M	0.66939	2.045	0.58432	D	0.999999	D	0.67145	0.996	P	0.52386	0.697	T	0.56565	-0.7958	10	0.87932	D	0	.	15.1602	0.72778	0.1425:0.8575:0.0:0.0	.	1204	O75592	MYCB2_HUMAN	E	1204;1242;1204	ENSP00000349892:G1204E;ENSP00000384288:G1242E;ENSP00000444596:G1204E	ENSP00000349892:G1204E	G	-	2	0	MYCBP2	76677510	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	7.484000	0.81180	1.185000	0.42971	-0.319000	0.08680	GGA		0.368	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		42	35	0	0	0	1	0	42	35				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			6	9						6	9	---	---	---	---
USP34	9736	broad.mit.edu	37	2	61415591	61415597	+	Frame_Shift_Del	DEL	ATTTGAC	ATTTGAC	-	rs200566849		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr2:61415591_61415597delATTTGAC	ENST00000398571.2	-	80	10357_10363	c.10281_10287delGTCAAAT	c.(10279-10287)atgtcaaatfs	p.MSN3427fs	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3427					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTGACCTGATATTTGACATGTCTTCTG	0.396																																						ENST00000398571.2																			0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(10279-10287)atfs		ubiquitin specific peptidase 34																																				SO:0001589	frameshift_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61415591_61415597delATTTGAC	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.10281_10287delGTCAAAT	2.37:g.61415591_61415597delATTTGAC	ENSP00000381577:p.Met3427fs						p.MSN3427fs	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		80	10357_10363	-			3427					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Del	DEL	ENST00000398571.2	37	c.10281_10287delGTCAAAT	CCDS42686.1																																																																																				0.396	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			23	89						23	89	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89378627	89378627	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr4:89378627delC	ENST00000264350.3	+	1	360	c.207delC	c.(205-207)ggcfs	p.G70fs		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	70					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TGGAACGCGGCGGGGCGGGCG	0.756																																					Esophageal Squamous(39;887 1012 34045 50514)	ENST00000264350.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53						c.(205-207)ggfs		HECT and RLD domain containing E3 ubiquitin protein ligase 5							3.0	4.0	4.0					4																	89378627		1330	2930	4260	SO:0001589	frameshift_variant	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89378627delC	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.207delC	4.37:g.89378627delC	ENSP00000264350:p.Gly70fs						p.G70fs	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	1	360	+		Hepatocellular(203;0.114)	70					B2RTQ1|Q69G20	Frame_Shift_Del	DEL	ENST00000264350.3	37	c.207delC	CCDS3630.1																																																																																				0.756	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		2	4						2	4	---	---	---	---
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)cagcaa>caa	p.100_101QQ>Q	PPP1R18_ENST00000399199.3_In_Frame_Del_p.100_101QQ>Q|NRM_ENST00000470733.1_5'Flank|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PPR18_HUMAN	protein phosphatase 1, regulatory subunit 18	100	Poly-Gln.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.65																																						ENST00000274853.3																			1	Substitution - coding silent(1)	p.Q100Q(1)	large_intestine(1)								c.(298-303)caa>ca		protein phosphatase 1, regulatory subunit 18			,	3,113,6,2396		0,0,0,3,5,0,103,1,4,1143					,	0.5	0.9		dbSNP_130	42	2,260,1,5209		0,0,0,2,9,0,242,0,1,2482	no	codingComplex,codingComplex	KIAA1949	NM_133471.3,NM_001134870.1	,	0,0,0,5,14,0,345,1,5,3625	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8063,4.8451,4.8185	,	,		5,373,7,7605				SO:0001651	inframe_deletion	170954					cytoplasm|cytoskeleton	actin binding	g.chr6:30653494_30653496delTGC	AK097089	CCDS43444.1	6p21.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000146112	ENSG00000146112		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29413	protein-coding gene	gene with protein product	"""protein phosphatase 1 F-actin cytoskeleton targeting subunit"""	610990	"""KIAA1949"""	KIAA1949		11853319	Standard	NM_001134870		Approved	phostensin	uc003nra.3	Q6NYC8	OTTHUMG00000031237	ENST00000274853.3:c.300_302delGCA	6.37:g.30653503_30653505delTGC	ENSP00000274853:p.Gln103del					PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	p.QQ102del	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN			1	2176_2178	-			102			Poly-Gln.		A2AB01|A2AIB8|A4UBI6|A6NCB7|A8MSS7|B7ZCV7|Q68CK8|Q6ZTV1|Q6ZUJ6|Q8NDQ4|Q8TF52|Q9BRL9	In_Frame_Del	DEL	ENST00000274853.3	37	c.300_302delGCA	CCDS43444.1																																																																																				0.650	PPP1R18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076498.2	NM_133471		7	131						7	131	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90556398	90556398	+	RNA	DEL	T	T	-	rs375626099		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr6:90556398delT	ENST00000551025.1	+	0	1492									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTAAtttccttttttttttt	0.418																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2							86.0	82.0	83.0					6																	90556398		1832	4090	5922			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90556398delT	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90556398delT										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1492	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	DEL	ENST00000551025.1	37																																																																																						0.418	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		4	6						4	6	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61743066	61743097	+	Frame_Shift_Del	DEL	TAACGTACCTAACCTATTAAACACTATGATGG	TAACGTACCTAACCTATTAAACACTATGATGG	-	rs376803225|rs372498366		TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr8:61743066_61743097delTAACGTACCTAACCTATTAAACACTATGATGG	ENST00000423902.2	+	15	4187_4218	c.3708_3739delTAACGTACCTAACCTATTAAACACTATGATGG	c.(3706-3741)gctaacgtacctaacctattaaacactatgatggaafs	p.NVPNLLNTMME1237fs	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1237					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GTGGTCAAGCTAACGTACCTAACCTATTAAACACTATGATGGAATTGCGGAA	0.414																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(3706-3741)gcaafs		chromodomain helicase DNA binding protein 7																																				SO:0001589	frameshift_variant	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61743066_61743097delTAACGTACCTAACCTATTAAACACTATGATGG	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.3708_3739delTAACGTACCTAACCTATTAAACACTATGATGG	8.37:g.61743066_61743097delTAACGTACCTAACCTATTAAACACTATGATGG	ENSP00000392028:p.Asn1237fs					CHD7_ENST00000524602.1_Intron	p.ANVPNLLNTMME1236fs	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		15	4187_4218	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	1236					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Frame_Shift_Del	DEL	ENST00000423902.2	37	c.3708_3739delTAACGTACCTAACCTATTAAACACTATGATGG	CCDS47865.1																																																																																				0.414	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	72						8	72	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		3	6						3	6	---	---	---	---
NPFF	8620	broad.mit.edu	37	12	53898227	53898228	+	IGR	INS	-	-	A			TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr12:53898227_53898228insA	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.E136fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.E136fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.E66fs|TARBP2_ENST00000266987.2_Frame_Shift_Ins_p.E157fs	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						TCAGCAGTCTGAGTGCAACCCC	0.589																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(469-471)gtgfs		TAR (HIV-1) RNA binding protein 2																																				SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898227_53898228insA	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898228_53898228dupA						TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.V66fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.V136fs|TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.V136fs	p.V157fs	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			5	952_953	+			157			Sufficient for interaction with PRKRA.		Q3SXL4	Frame_Shift_Ins	INS	ENST00000267017.3	37	c.469_470insA	CCDS8862.1																																																																																				0.589	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		20	77						20	77	---	---	---	---
CES1P1	51716	broad.mit.edu	37	16	55806588	55806588	+	RNA	DEL	A	A	-	rs71149630	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr16:55806588delA	ENST00000571348.1	+	0	736					NR_003276.2		Q9UKY3	CES1P_HUMAN	carboxylesterase 1 pseudogene 1						anatomical structure morphogenesis (GO:0009653)|metabolic process (GO:0008152)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)										GCTAAAGACCAAGCTCTCCTT	0.527													|||unknown(NO_COVERAGE)	656	0.13099	0.121	0.062	5008	,	,		14989	0.122		0.0815	False		,,,				2504	0.2536					ENST00000571348.1																			0																																																			51716							g.chr16:55806588delA	AF106005		16q12.2	2013-07-10	2010-10-12	2010-10-12	ENSG00000228695	ENSG00000228695			18546	pseudogene	pseudogene			"""carboxylesterase 4-like"", ""carboxylesterase 4, pseudogene"""	CES4		10452915, 20931200	Standard	NR_003276		Approved	PCE-3, CESR, CES1A3	uc010cce.3	Q9UKY3	OTTHUMG00000154668		16.37:g.55806588delA								NR_003276.2						0	736	+								A2RRL8|B9ZVS2	RNA	DEL	ENST00000571348.1	37																																																																																						0.527	CES1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000440035.1	NR_003276		3	3						3	3	---	---	---	---
CCDC144B	284047	broad.mit.edu	37	17	18498059	18498060	+	RNA	INS	-	-	A	rs66528329	byFrequency	TCGA-CQ-7072-01A-21D-A30E-08	TCGA-CQ-7072-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb6b7b2d-a6bc-4668-b8ad-c189e7e9299b	5b824d22-9a70-4661-a970-ceaf19714f59	g.chr17:18498059_18498060insA	ENST00000442583.1	-	0	898_899							Q3MJ40	C144B_HUMAN	coiled-coil domain containing 144B (pseudogene)											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						CTAAGTTGTTCATCAGCAACAT	0.406													|||unknown(NO_COVERAGE)	3806	0.759984	0.9206	0.6167	5008	,	,		7561	0.9365		0.5169	False		,,,				2504	0.7127					ENST00000442583.1																			0				NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36												2641,679		1243,155,262						1.3	0.4		dbSNP_130	39	3468,4110		1374,720,1695	no	intergenic				2617,875,1957	A1A1,A1R,RR		45.7641,20.4518,43.9438				6109,4789						284047							g.chr17:18498059_18498060insA	AK093811		17p11.2	2012-11-19	2011-09-02		ENSG00000154874	ENSG00000154874			26704	pseudogene	pseudogene			"""coiled-coil domain containing 144B"""			11997339	Standard	NR_036647		Approved	FLJ36492	uc002guc.2	Q3MJ40	OTTHUMG00000059531		17.37:g.18498060_18498060dupA														0	898_899	-								Q6P5Q3|Q8N200	RNA	INS	ENST00000442583.1	37																																																																																						0.406	CCDC144B-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000132102.1	NM_182568		9	9						9	9	---	---	---	---
