#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTCHD2	57540	broad.mit.edu	37	1	11596425	11596426	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:11596425_11596426GC>TT	ENST00000294484.6	+	21	3999_4000	c.3861_3862GC>TT	c.(3859-3864)cgGCac>cgTTac	p.H1288Y	PTCHD2_ENST00000304391.6_Missense_Mutation_p.A174L|PTCHD2_ENST00000389575.3_Missense_Mutation_p.H1288Y	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1288					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		AGGCCGTGCGGCACGTGGGCGT	0.673																																						uc001ash.3		NA																	0				skin(3)|ovary(2)|pancreas(1)|breast(1)	7						c.(3859-3864)CGGCAC>CGTTAC		patched domain containing 2																																				SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11596425_11596426GC>TT	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	Exception_encountered	1.37:g.11596425_11596426delinsTT	ENSP00000294484:p.His1288Tyr						p.H1288Y	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	21	3999_4000	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	1288			Extracellular (Potential).		Q5VTU9|Q9UJD6	Missense_Mutation	DNP	ENST00000294484.6	37	c.3861_3862GC>TT	CCDS41247.1																																																																																				0.673	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		25	29	0	0	0	0	25	29				
EPHA10	284656	broad.mit.edu	37	1	38227471	38227471	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:38227471G>A	ENST00000373048.4	-	3	455	c.456C>T	c.(454-456)atC>atT	p.I152I	EPHA10_ENST00000427468.2_Silent_p.I152I|EPHA10_ENST00000319637.6_Silent_p.I152I	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	152	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGATCGTGTCGATTTTGCGGG	0.662																																						uc009vvi.2		NA																	0				breast(4)|stomach(3)|lung(1)	8						c.(454-456)ATC>ATT		EPH receptor A10 isofom 3							28.0	34.0	32.0					1																	38227471		2198	4297	6495	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38227471G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.456C>T	1.37:g.38227471G>A						EPHA10_uc001cbw.3_Silent_p.I152I	p.I152I	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN			3	542	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	152			Extracellular (Potential).		A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.456C>T	CCDS41305.1																																																																																				0.662	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		13	28	0	0	0	0	13	28				
HOOK1	51361	broad.mit.edu	37	1	60314747	60314747	+	Silent	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:60314747T>G	ENST00000371208.3	+	12	1391	c.1134T>G	c.(1132-1134)gtT>gtG	p.V378V	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.V336V	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	378	Sufficient for interaction with microtubules.				early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)|spermatid development (GO:0007286)	FHF complex (GO:0070695)|microtubule (GO:0005874)	identical protein binding (GO:0042802)			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GACATTAGGTTCAAGATCTTC	0.338																																						uc009wad.2		NA																	0				ovary(1)|breast(1)	2						c.(1132-1134)GTT>GTG		hook homolog 1							77.0	74.0	75.0					1																	60314747		2203	4299	6502	SO:0001819	synonymous_variant	51361				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	g.chr1:60314747T>G	AF044923	CCDS612.1	1p32.1	2013-08-21	2013-08-21		ENSG00000134709	ENSG00000134709			19884	protein-coding gene	gene with protein product		607820	"""hook homolog 1 (Drosophila)"""			9927460	Standard	XM_005270922		Approved	HK1	uc001czo.3	Q9UJC3	OTTHUMG00000008990	ENST00000371208.3:c.1134T>G	1.37:g.60314747T>G						HOOK1_uc001czo.2_Silent_p.V378V|HOOK1_uc001czp.2_RNA|HOOK1_uc010oor.1_Silent_p.V336V	p.V378V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN			13	1236	+	all_cancers(7;0.000129)		378			Potential.|Sufficient for interaction with microtubules.		A8K8E9|A8MU44|B4DX15|O60561|Q5TG44	Silent	SNP	ENST00000371208.3	37	c.1134T>G	CCDS612.1																																																																																				0.338	HOOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024934.1	NM_015888		20	51	0	0	0	0	20	51				
PDE4DIP	9659	broad.mit.edu	37	1	144879069	144879069	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:144879069G>A	ENST00000369354.3	-	27	4570	c.4381C>T	c.(4381-4383)Ctg>Ttg	p.L1461L	PDE4DIP_ENST00000369359.4_Silent_p.L1597L|PDE4DIP_ENST00000530740.1_Silent_p.L1597L|PDE4DIP_ENST00000369356.4_Silent_p.L1461L|PDE4DIP_ENST00000313382.9_Silent_p.L1417L|AL138796.1_ENST00000582173.1_RNA|PDE4DIP_ENST00000524974.1_5'UTR|RP4-791M13.5_ENST00000531288.1_RNA			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1461					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.L1461V(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTCAGCCAGCTTCTCTTCT	0.517			T	PDGFRB	MPD																																	uc001elw.3		NA		Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - Missense(1)		breast(1)	ovary(4)|haematopoietic_and_lymphoid_tissue(1)	5						c.(4381-4383)CTG>TTG		phosphodiesterase 4D interacting protein isoform							150.0	163.0	159.0					1																	144879069		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144879069G>A	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.4381C>T	1.37:g.144879069G>A						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L1417L|PDE4DIP_uc001elv.3_Silent_p.L468L	p.L1461L	NM_014644	NP_055459	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	27	4672	-			1461					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.4381C>T	CCDS30824.1																																																																																				0.517	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		15	221	0	0	0	0	15	221				
NOTCH2NL	388677	broad.mit.edu	37	1	145281460	145281460	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:145281460A>G	ENST00000369340.3	+	5	834	c.390A>G	c.(388-390)aaA>aaG	p.K130K	RP11-458D21.5_ENST00000468030.1_Silent_p.K130K|NOTCH2NL_ENST00000362074.6_Silent_p.K130K|NOTCH2NL_ENST00000344859.3_Silent_p.K130K			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	130	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCTCCTGCAAATGCCTCACAG	0.537																																						uc001emn.3		NA																	0				ovary(1)	1						c.(388-390)AAA>AAG		Notch homolog 2 N-terminal like protein							307.0	301.0	303.0					1																	145281460		2203	4300	6503	SO:0001819	synonymous_variant	388677				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	g.chr1:145281460A>G		CCDS72880.1	1q21.2	2010-06-24	2010-06-24		ENSG00000213240	ENSG00000213240			31862	protein-coding gene	gene with protein product			"""Notch homolog 2 (Drosophila) N-terminal like"""			14673143	Standard	NM_203458		Approved	N2N	uc001emn.4	Q7Z3S9	OTTHUMG00000013754	ENST00000369340.3:c.390A>G	1.37:g.145281460A>G						NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_5'UTR|NOTCH2NL_uc001emm.3_Silent_p.K130K|NOTCH2NL_uc001emo.2_Silent_p.K130K|NOTCH2NL_uc010oyh.1_RNA	p.K130K	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN			4	760	+			130			EGF-like 4.		Q5BKT8|Q5VTG9|Q5XG84|Q6P192|Q8NC23|Q8WUQ9|Q96FY1	Silent	SNP	ENST00000369340.3	37	c.390A>G	CCDS909.1																																																																																				0.537	NOTCH2NL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038546.1	NM_203458		37	404	0	0	0	0	37	404				
CHRNB2	1141	broad.mit.edu	37	1	154543837	154543837	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:154543837C>T	ENST00000368476.3	+	5	802	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	180					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GACCTACGACCGCACAGAGAT	0.577																																						uc001ffg.2		NA																	0					0						c.(538-540)CGC>TGC		neuronal nicotinic acetylcholine receptor beta 2	Nicotine(DB00184)						146.0	111.0	123.0					1																	154543837		2203	4300	6503	SO:0001583	missense	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543837C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.538C>T	1.37:g.154543837C>T	ENSP00000357461:p.Arg180Cys						p.R180C	NM_000748	NP_000739	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	802	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		180			Extracellular (Potential).		Q9UEH9	Missense_Mutation	SNP	ENST00000368476.3	37	c.538C>T	CCDS1070.1	.	.	.	.	.	.	.	.	.	.	C	18.20	3.570263	0.65765	.	.	ENSG00000160716	ENST00000368476	T	0.79749	-1.3	4.38	4.38	0.52667	Neurotransmitter-gated ion-channel ligand-binding (3);	0.055118	0.64402	D	0.000001	D	0.85869	0.5797	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.67725	0.953	D	0.87911	0.2697	10	0.87932	D	0	.	16.7273	0.85426	0.0:1.0:0.0:0.0	.	180	P17787	ACHB2_HUMAN	C	180	ENSP00000357461:R180C	ENSP00000357461:R180C	R	+	1	0	CHRNB2	152810461	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.995000	0.49441	2.238000	0.73509	0.563000	0.77884	CGC		0.577	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		5	48	0	0	0	0	5	48				
SLC9C2	284525	broad.mit.edu	37	1	173490489	173490489	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:173490489C>G	ENST00000367714.3	-	22	3112	c.2690G>C	c.(2689-2691)gGa>gCa	p.G897A	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	897					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										CATTTCACCTCCTTTACAAAT	0.318																																						uc001giz.2		NA																	0				ovary(2)	2						c.(2689-2691)GGA>GCA		solute carrier family 9, member 11							61.0	61.0	61.0					1																	173490489		2203	4299	6502	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173490489C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2690G>C	1.37:g.173490489C>G	ENSP00000356687:p.Gly897Ala					SLC9A11_uc009wwe.2_Missense_Mutation_p.G455A	p.G897A	NM_178527	NP_848622	Q5TAH2	S9A11_HUMAN			22	3113	-			897			cNMP.		Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2690G>C	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	C	3.517	-0.098563	0.07010	.	.	ENSG00000162753	ENST00000367714	D	0.92099	-2.97	5.18	1.47	0.22746	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.215756	0.32106	N	0.006573	T	0.68320	0.2988	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.61382	-0.7074	10	0.62326	D	0.03	-27.7518	5.6746	0.17741	0.0:0.0892:0.32:0.5907	.	897	Q5TAH2	S9A11_HUMAN	A	897	ENSP00000356687:G897A	ENSP00000356687:G897A	G	-	2	0	SLC9A11	171757112	1.000000	0.71417	0.931000	0.37212	0.119000	0.20118	1.288000	0.33296	0.013000	0.14918	-3.305000	0.00045	GGA		0.318	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		7	51	0	0	0	0	7	51				
CEP350	9857	broad.mit.edu	37	1	179983098	179983098	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:179983098C>G	ENST00000367607.3	+	10	1928	c.1510C>G	c.(1510-1512)Cta>Gta	p.L504V		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	504					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATAAAGAAACTAGCTTCATC	0.368																																						uc001gnt.2		NA																	0				ovary(4)	4						c.(1510-1512)CTA>GTA		centrosome-associated protein 350							46.0	48.0	47.0					1																	179983098		2203	4300	6503	SO:0001583	missense	9857					centrosome|nucleus|spindle		g.chr1:179983098C>G	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.1510C>G	1.37:g.179983098C>G	ENSP00000356579:p.Leu504Val					CEP350_uc009wxl.2_Missense_Mutation_p.L503V|CEP350_uc001gnu.2_Missense_Mutation_p.L338V	p.L504V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN			10	1893	+			504					O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	37	c.1510C>G	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	C	9.844	1.191803	0.21954	.	.	ENSG00000135837	ENST00000367607	D	0.92495	-3.05	5.9	2.33	0.28932	.	0.194376	0.24851	N	0.035098	D	0.84795	0.5551	L	0.60455	1.87	0.09310	N	1	B;P	0.36616	0.335;0.561	B;B	0.29942	0.039;0.109	T	0.75581	-0.3268	9	.	.	.	.	0.7024	0.00910	0.1585:0.2289:0.1651:0.4475	.	504;504	E7EU22;Q5VT06	.;CE350_HUMAN	V	504	ENSP00000356579:L504V	.	L	+	1	2	CEP350	178249721	0.062000	0.20869	0.983000	0.44433	0.985000	0.73830	0.144000	0.16135	0.467000	0.27218	-0.312000	0.09012	CTA		0.368	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810		18	43	0	0	0	0	18	43				
XPR1	9213	broad.mit.edu	37	1	180794421	180794421	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:180794421C>T	ENST00000367590.4	+	9	1273	c.1075C>T	c.(1075-1077)Ctt>Ttt	p.L359F	AL590085.1_ENST00000579998.1_RNA|XPR1_ENST00000367589.3_Missense_Mutation_p.L359F	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	359					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GGTTTTCTTCCTTATCAACCC	0.423																																						uc001goi.2		NA																	0					0						c.(1075-1077)CTT>TTT		xenotropic and polytropic retrovirus receptor							155.0	152.0	153.0					1																	180794421		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180794421C>T	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1075C>T	1.37:g.180794421C>T	ENSP00000356562:p.Leu359Phe					XPR1_uc009wxm.2_Missense_Mutation_p.L359F|XPR1_uc009wxn.2_Missense_Mutation_p.L359F	p.L359F	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN			9	1267	+			359			Helical; (Potential).		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1075C>T	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.292606	0.80914	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.51325	0.71;0.71	5.52	4.6	0.57074	EXS, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66307	0.2776	M	0.65975	2.015	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.76575	0.988;0.893	T	0.68281	-0.5450	10	0.49607	T	0.09	-10.5058	15.3121	0.74042	0.1413:0.8587:0.0:0.0	.	359;359	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	F	359	ENSP00000356562:L359F;ENSP00000356561:L359F	ENSP00000356561:L359F	L	+	1	0	XPR1	179061044	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.656000	0.67988	1.305000	0.44909	-0.321000	0.08615	CTT		0.423	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		40	117	0	0	0	0	40	117				
BRINP3	339479	broad.mit.edu	37	1	190067993	190067993	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:190067993T>C	ENST00000367462.3	-	8	1687	c.1456A>G	c.(1456-1458)Att>Gtt	p.I486V	BRINP3_ENST00000534846.1_Missense_Mutation_p.I384V	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	486					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)		p.I486V(1)									TCAAAGCCAATATAGTGATCG	0.522																																						uc001gse.1		NA																	1	Substitution - Missense(1)		haematopoietic_and_lymphoid_tissue(1)	lung(2)|ovary(1)|kidney(1)|skin(1)	5						c.(1456-1458)ATT>GTT		family with sequence similarity 5, member C							154.0	154.0	154.0					1																	190067993		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067993T>C	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1456A>G	1.37:g.190067993T>C	ENSP00000356432:p.Ile486Val					FAM5C_uc010pot.1_Missense_Mutation_p.I384V	p.I486V	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN			8	1688	-	Prostate(682;0.198)		486					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1456A>G	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	T	12.29	1.892126	0.33442	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.48836	0.8;0.8	5.75	5.75	0.90469	.	0.063358	0.64402	D	0.000004	T	0.36193	0.0958	L	0.29908	0.895	0.36318	D	0.858089	B;B	0.17038	0.02;0.012	B;B	0.12156	0.007;0.003	T	0.36065	-0.9763	10	0.22109	T	0.4	.	14.0112	0.64498	0.0:0.0:0.0:1.0	.	384;486	B7Z260;Q76B58	.;FAM5C_HUMAN	V	486;384	ENSP00000356432:I486V;ENSP00000438022:I384V	ENSP00000356432:I486V	I	-	1	0	FAM5C	188334616	1.000000	0.71417	0.988000	0.46212	0.926000	0.56050	1.491000	0.35583	2.190000	0.69967	0.482000	0.46254	ATT		0.522	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		22	158	0	0	0	0	22	158				
CDNF	441549	broad.mit.edu	37	10	14870200	14870200	+	5'UTR	SNP	T	T	C	rs558862191		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:14870200T>C	ENST00000378442.1	-	0	384				CDNF_ENST00000378441.2_5'UTR			Q49AH0	CDNF_HUMAN	cerebral dopamine neurotrophic factor							extracellular region (GO:0005576)				breast(2)|large_intestine(2)|lung(1)	5						TCTTTCTCTATAGTGTCCAGC	0.368																																						uc001inb.1		NA																	0					0						c.(187-189)ATA>GTA		arginine-rich, mutated in early stage							155.0	151.0	152.0					10																	14870200		2203	4300	6503	SO:0001623	5_prime_UTR_variant	441549					extracellular region	growth factor activity	g.chr10:14870200T>C	BC037872	CCDS31148.1	10p13	2009-06-04	2009-06-04	2009-06-04	ENSG00000185267	ENSG00000185267			24913	protein-coding gene	gene with protein product	"""conserved dopamine neurotrophic factor"""	611233	"""arginine-rich, mutated in early stage tumors-like 1"""	ARMETL1		17611540	Standard	NM_001029954		Approved		uc001inb.1	Q49AH0	OTTHUMG00000017713	ENST00000378442.1:c.-120A>G	10.37:g.14870200T>C						CDNF_uc010qbv.1_Missense_Mutation_p.I63V|CDNF_uc001inc.1_5'UTR	p.I63V	NM_001029954	NP_001025125	Q49AH0	CDNF_HUMAN			2	225	-			63					A2RUU0|B4DVW3	Missense_Mutation	SNP	ENST00000378442.1	37	c.187A>G		.	.	.	.	.	.	.	.	.	.	T	14.41	2.528182	0.44969	.	.	ENSG00000185267	ENST00000465530	.	.	.	5.52	4.37	0.52481	.	0.114726	0.64402	D	0.000013	T	0.58264	0.2110	L	0.55481	1.735	0.45118	D	0.998137	B	0.15719	0.014	B	0.25140	0.058	T	0.55309	-0.8161	9	0.46703	T	0.11	-24.2251	12.0787	0.53659	0.0:0.0:0.1443:0.8557	.	63	Q49AH0	CDNF_HUMAN	V	63	.	ENSP00000419395:I63V	I	-	1	0	CDNF	14910206	0.997000	0.39634	0.831000	0.32960	0.409000	0.31022	2.683000	0.46943	1.015000	0.39444	0.482000	0.46254	ATA		0.368	CDNF-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000046919.1	NM_001029954		29	105	0	0	0	0	29	105				
PCDH15	65217	broad.mit.edu	37	10	55955480	55955480	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:55955480G>T	ENST00000320301.6	-	11	1662	c.1268C>A	c.(1267-1269)cCt>cAt	p.P423H	PCDH15_ENST00000395430.1_Missense_Mutation_p.P423H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P428H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P386H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395446.1_Missense_Mutation_p.P423H|PCDH15_ENST00000373965.2_Missense_Mutation_p.P423H|PCDH15_ENST00000395440.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P401H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P423H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.P423H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P27H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P423H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P423H|PCDH15_ENST00000373957.3_Missense_Mutation_p.P401H	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	423	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TATTCTTAAAGGTGAAGTCAA	0.368										HNSCC(58;0.16)																												uc001jju.1		NA																	0				pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(1267-1269)CCT>CAT		protocadherin 15 isoform CD1-4 precursor							118.0	111.0	113.0					10																	55955480		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55955480G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1268C>A	10.37:g.55955480G>T	ENSP00000322604:p.Pro423His	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P428H|PCDH15_uc010qhr.1_Missense_Mutation_p.P423H|PCDH15_uc010qhs.1_Missense_Mutation_p.P428H|PCDH15_uc010qht.1_Missense_Mutation_p.P423H|PCDH15_uc010qhu.1_Missense_Mutation_p.P423H|PCDH15_uc001jjv.1_Missense_Mutation_p.P401H|PCDH15_uc010qhv.1_Missense_Mutation_p.P423H|PCDH15_uc010qhw.1_Missense_Mutation_p.P386H|PCDH15_uc010qhx.1_Missense_Mutation_p.P423H|PCDH15_uc010qhy.1_Missense_Mutation_p.P428H|PCDH15_uc010qhz.1_Missense_Mutation_p.P423H|PCDH15_uc010qia.1_Missense_Mutation_p.P401H|PCDH15_uc010qib.1_Missense_Mutation_p.P401H|PCDH15_uc001jjw.2_Missense_Mutation_p.P423H	p.P423H	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			11	1663	-		Melanoma(3;0.117)|Lung SC(717;0.238)	423			Cadherin 4.|Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.1268C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	16.48	3.136398	0.56936	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61510	0.1;0.59;0.59;0.15;0.1;0.59;0.52;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.59	5.07	4.16	0.48862	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.73521	0.3597	M	0.65498	2.005	0.45439	D	0.998412	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0;1.0;1.0;0.993	T	0.76887	-0.2793	9	0.87932	D	0	.	14.5122	0.67794	0.0:0.0:0.8518:0.1482	.	401;423;423;428;423;386;423;423;423;423;423;428;423;401;423	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	423;428;423;423;27;423;423;423;386;423;401;401;423;423;428;423;423	ENSP00000363076:P423H;ENSP00000410304:P428H;ENSP00000378826:P423H;ENSP00000386693:P27H;ENSP00000378832:P423H;ENSP00000378833:P423H;ENSP00000378827:P423H;ENSP00000378820:P386H;ENSP00000354950:P423H;ENSP00000378821:P401H;ENSP00000363068:P401H;ENSP00000322604:P423H;ENSP00000378818:P423H;ENSP00000412628:P423H;ENSP00000363066:P423H	ENSP00000322604:P423H	P	-	2	0	PCDH15	55625486	1.000000	0.71417	0.807000	0.32361	0.377000	0.30045	7.983000	0.88140	1.116000	0.41820	0.591000	0.81541	CCT		0.368	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		10	108	1	0	4.69e-08	5.6e-08	10	108				
ZNF365	22891	broad.mit.edu	37	10	64148197	64148197	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:64148197G>A	ENST00000395254.3	+	3	1066	c.786G>A	c.(784-786)gaG>gaA	p.E262E	ZNF365_ENST00000395255.3_Silent_p.E262E|ZNF365_ENST00000410046.3_Silent_p.E262E|ZNF365_ENST00000466727.1_3'UTR	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CGGCAGCTGAGAAGGAGGTTC	0.473																																						uc001jmc.2		NA																	0				ovary(1)|skin(1)	2						c.(784-786)GAG>GAA		zinc finger protein 365 isoform C							64.0	64.0	64.0					10																	64148197		2203	4300	6503	SO:0001819	synonymous_variant	22891							g.chr10:64148197G>A	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.786G>A	10.37:g.64148197G>A						ZNF365_uc001jly.3_Silent_p.E277E|ZNF365_uc001jmb.3_Silent_p.E262E|ZNF365_uc001jlz.3_Silent_p.E262E|ZNF365_uc001jma.3_RNA	p.E262E	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN			3	1101	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		Error:Variant_position_missing_in_Q70YC4_after_alignment						Silent	SNP	ENST00000395254.3	37	c.786G>A	CCDS31209.1																																																																																				0.473	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		7	57	0	0	0	0	7	57				
TET1	80312	broad.mit.edu	37	10	70333405	70333405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:70333405C>T	ENST00000373644.4	+	2	1519	c.1310C>T	c.(1309-1311)cCa>cTa	p.P437L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	437					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CCTGTTCCTCCAAATCCAATT	0.468																																						uc001jok.3		NA																	0				ovary(5)|lung(2)|prostate(1)|breast(1)	9						c.(1309-1311)CCA>CTA		CXXC finger 6							119.0	103.0	109.0					10																	70333405		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70333405C>T	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.1310C>T	10.37:g.70333405C>T	ENSP00000362748:p.Pro437Leu						p.P437L	NM_030625	NP_085128	Q8NFU7	TET1_HUMAN			2	1815	+			437					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.1310C>T	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	0.776	-0.763928	0.02996	.	.	ENSG00000138336	ENST00000373644	T	0.06294	3.32	4.59	1.43	0.22495	.	0.778059	0.10951	N	0.616111	T	0.03053	0.0090	N	0.08118	0	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.47222	-0.9134	10	0.23302	T	0.38	.	5.5353	0.17007	0.0:0.3497:0.0:0.6503	.	437	Q8NFU7	TET1_HUMAN	L	437	ENSP00000362748:P437L	ENSP00000362748:P437L	P	+	2	0	TET1	70003411	0.000000	0.05858	0.380000	0.26093	0.547000	0.35210	-0.247000	0.08866	0.493000	0.27837	0.313000	0.20887	CCA		0.468	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		27	102	0	0	0	0	27	102				
AVPI1	60370	broad.mit.edu	37	10	99437758	99437758	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:99437758C>T	ENST00000370626.3	-	3	879	c.312G>A	c.(310-312)ctG>ctA	p.L104L		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	104					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTGGGTTGGCCAGTGCAGAGT	0.522																																						uc001koh.1		NA																	0				breast(1)	1						c.(310-312)CTG>CTA		vasopressin-induced protein, 32kDa							82.0	77.0	79.0					10																	99437758		2203	4300	6503	SO:0001819	synonymous_variant	60370				cell cycle			g.chr10:99437758C>T	AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.312G>A	10.37:g.99437758C>T						AVPI1_uc001koi.2_Silent_p.L104L	p.L104L	NM_021732	NP_068378	Q5T686	AVPI1_HUMAN		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)	3	423	-		Colorectal(252;0.162)	104					Q53G32|Q9H2R9|Q9HBN9	Silent	SNP	ENST00000370626.3	37	c.312G>A	CCDS7470.1																																																																																				0.522	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732		26	62	0	0	0	0	26	62				
FUOM	282969	broad.mit.edu	37	10	135168929	135168929	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr10:135168929A>T	ENST00000368552.3	-	6	427	c.410T>A	c.(409-411)cTc>cAc	p.L137H	FUOM_ENST00000447176.1_Missense_Mutation_p.L93H|FUOM_ENST00000465384.1_5'UTR|FUOM_ENST00000278025.4_3'UTR|FUOM_ENST00000368551.1_Missense_Mutation_p.L92H	NM_001098483.1	NP_001091953.1	A2VDF0	FUCM_HUMAN	fucose mutarotase	137					female mating behavior (GO:0060180)|fucose metabolic process (GO:0006004)|fucosylation (GO:0036065)|negative regulation of neuron differentiation (GO:0045665)		fucose binding (GO:0042806)|racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)										GTTTCCGTAGAGGGCCGTCTC	0.662																																						uc001lmt.2		NA																	0					0						c.(409-411)CTC>CAC		hypothetical protein LOC282969 isoform 1							24.0	24.0	24.0					10																	135168929		2196	4292	6488	SO:0001583	missense	282969				fucose metabolic process		fucose binding|racemase and epimerase activity, acting on carbohydrates and derivatives	g.chr10:135168929A>T	AK129527	CCDS7680.1	10q26.3	2012-07-10	2012-07-10	2012-07-10	ENSG00000148803	ENSG00000148803	5.1.3.n2		24733	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 125"""	C10orf125		17602138	Standard	NM_001098483		Approved	FLJ26016, FucU, FucM	uc001lmt.2	A2VDF0	OTTHUMG00000019315	ENST00000368552.3:c.410T>A	10.37:g.135168929A>T	ENSP00000357540:p.Leu137His					C10orf125_uc001lms.2_3'UTR	p.L137H	NM_001098483	NP_001091953	A2VDF0	FUCM_HUMAN		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	6	428	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	137					A1L300|Q5VWY2|Q5VWY3|Q6ZPD2	Missense_Mutation	SNP	ENST00000368552.3	37	c.410T>A	CCDS44499.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979211	0.53827	.	.	ENSG00000148803	ENST00000447176;ENST00000368551;ENST00000368552	.	.	.	3.85	2.66	0.31614	D-ribose pyranase RbsD-like (2);	.	.	.	.	T	0.67933	0.2946	M	0.86502	2.82	0.80722	D	1	D	0.59767	0.986	P	0.55667	0.781	T	0.65455	-0.6164	8	0.31617	T	0.26	-5.2723	6.3234	0.21231	0.7794:0.0:0.0:0.2206	.	137	A2VDF0	FUCM_HUMAN	H	93;92;137	.	ENSP00000357539:L92H	L	-	2	0	C10orf125	135018919	0.365000	0.25006	0.939000	0.37840	0.776000	0.43924	0.376000	0.20535	0.609000	0.30018	0.383000	0.25322	CTC		0.662	FUOM-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_198472		5	22	0	0	0	0	5	22				
LUZP2	338645	broad.mit.edu	37	11	24750809	24750809	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:24750809G>A	ENST00000336930.6	+	2	223	c.157G>A	c.(157-159)Gat>Aat	p.D53N	LUZP2_ENST00000531187.1_3'UTR|LUZP2_ENST00000533227.1_De_novo_Start_OutOfFrame			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	53						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAGAGAACTTGATGGAATTAA	0.403																																						uc001mqs.2		NA																	0				ovary(1)|skin(1)	2						c.(157-159)GAT>AAT		leucine zipper protein 2 precursor							72.0	74.0	73.0					11																	24750809		2203	4299	6502	SO:0001583	missense	338645					extracellular region		g.chr11:24750809G>A	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.157G>A	11.37:g.24750809G>A	ENSP00000336817:p.Asp53Asn					LUZP2_uc009yif.2_5'UTR|LUZP2_uc009yig.2_Missense_Mutation_p.D53N	p.D53N	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN			2	391	+			53			Potential.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.157G>A	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271675	0.80469	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.34667	1.35;1.35	5.98	5.04	0.67666	.	0.214592	0.46442	N	0.000300	T	0.36276	0.0961	L	0.56769	1.78	0.80722	D	1	B	0.14438	0.01	B	0.19391	0.025	T	0.17623	-1.0363	10	0.54805	T	0.06	-9.0799	11.5931	0.50957	0.0917:0.0:0.9083:0.0	.	53	Q86TE4	LUZP2_HUMAN	N	53	ENSP00000336817:D53N;ENSP00000437032:D53N	ENSP00000336817:D53N	D	+	1	0	LUZP2	24707385	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	4.848000	0.62874	1.454000	0.47793	0.650000	0.86243	GAT		0.403	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		4	62	0	0	0	0	4	62				
LGALS12	85329	broad.mit.edu	37	11	63276452	63276452	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:63276452G>A	ENST00000394618.3	+	3	718	c.427G>A	c.(427-429)Gag>Aag	p.E143K	LGALS12_ENST00000255684.5_Missense_Mutation_p.E143K|LGALS12_ENST00000340246.5_Missense_Mutation_p.E144K|LGALS12_ENST00000425950.2_Missense_Mutation_p.E82K|LGALS12_ENST00000415491.2_Missense_Mutation_p.E82K	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	143	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTTCGGGAATGAGGAAGTGAA	0.592																																						uc001nxa.2		NA																	0				ovary(2)	2						c.(427-429)GAG>AAG		lectin, galactoside-binding, soluble, 12 isoform							30.0	31.0	31.0					11																	63276452		2201	4298	6499	SO:0001583	missense	85329				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	g.chr11:63276452G>A	AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.427G>A	11.37:g.63276452G>A	ENSP00000378116:p.Glu143Lys					LGALS12_uc001nxb.2_Missense_Mutation_p.E143K|LGALS12_uc001nxc.2_Missense_Mutation_p.E144K|LGALS12_uc001nxd.2_Missense_Mutation_p.E82K|LGALS12_uc001nxe.2_Missense_Mutation_p.E82K|LGALS12_uc009yot.2_Missense_Mutation_p.E103K	p.E143K	NM_033101	NP_149092	Q96DT0	LEG12_HUMAN			3	768	+			143			Galectin 1.		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000394618.3	37	c.427G>A	CCDS8045.1	.	.	.	.	.	.	.	.	.	.	G	28.1	4.893395	0.91889	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.17854	2.25;2.25;3.34;3.34;3.34	5.43	5.43	0.79202	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.64402	D	0.000014	T	0.36193	0.0958	L	0.58583	1.82	0.46279	D	0.998964	D;D;D;D	0.71674	0.997;0.998;0.988;0.998	D;D;P;D	0.69307	0.945;0.937;0.854;0.963	T	0.00893	-1.1524	10	0.33940	T	0.23	-37.18	15.1109	0.72355	0.0:0.0:1.0:0.0	.	103;144;143;143	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	K	143;143;144;82;82	ENSP00000255684:E143K;ENSP00000378116:E143K;ENSP00000339374:E144K;ENSP00000394659:E82K;ENSP00000399093:E82K	ENSP00000255684:E143K	E	+	1	0	LGALS12	63033028	1.000000	0.71417	0.866000	0.34008	0.723000	0.41478	4.713000	0.61895	2.719000	0.93026	0.655000	0.94253	GAG		0.592	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396378.1	NM_033101		10	27	0	0	0	0	10	27				
SLC29A2	3177	broad.mit.edu	37	11	66134014	66134014	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr11:66134014C>T	ENST00000357440.2	-	8	983	c.755G>A	c.(754-756)aGt>aAt	p.S252N	SLC29A2_ENST00000546034.1_Missense_Mutation_p.S252N|SLC29A2_ENST00000544554.1_Missense_Mutation_p.S252N|SLC29A2_ENST00000311161.7_Intron	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	252					cell proliferation (GO:0008283)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10					Didanosine(DB00900)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TTTCTGGGGACTACTGGGAAT	0.577																																						uc001oht.2		NA																	0				ovary(1)	1						c.(754-756)AGT>AAT		solute carrier family 29 (nucleoside							55.0	52.0	53.0					11																	66134014		2200	4295	6495	SO:0001583	missense	3177				cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	g.chr11:66134014C>T	X86681	CCDS8137.1, CCDS73326.1	11q13	2013-07-17	2013-07-17		ENSG00000174669	ENSG00000174669		"""Solute carriers"""	11004	protein-coding gene	gene with protein product		602110	"""solute carrier family 29 (nucleoside transporters), member 2"""	ENT2, HNP36		9192854, 9478986	Standard	NM_001532		Approved	DER12	uc001oht.3	Q14542	OTTHUMG00000169056	ENST00000357440.2:c.755G>A	11.37:g.66134014C>T	ENSP00000350024:p.Ser252Asn					SLC29A2_uc001ohs.2_Missense_Mutation_p.S132N|SLC29A2_uc010rpb.1_RNA|SLC29A2_uc009yrf.2_Missense_Mutation_p.S132N|SLC29A2_uc001ohu.2_Missense_Mutation_p.S252N|SLC29A2_uc001ohv.2_Intron|uc001ohw.1_5'Flank	p.S252N	NM_001532	NP_001523	Q14542	S29A2_HUMAN			8	984	-			252					B3KPY7|O43530|Q52M84|Q96R00|Q9UPE0	Missense_Mutation	SNP	ENST00000357440.2	37	c.755G>A	CCDS8137.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674325	0.29693	.	.	ENSG00000174669	ENST00000357440;ENST00000544554;ENST00000546034	T;T;T	0.64803	-0.12;-0.12;-0.12	5.24	5.24	0.73138	.	0.540943	0.22058	N	0.065216	T	0.47266	0.1436	N	0.22421	0.69	0.36793	D	0.884962	B	0.27013	0.166	B	0.25759	0.063	T	0.50600	-0.8809	10	0.20046	T	0.44	-23.4743	14.3673	0.66815	0.0:1.0:0.0:0.0	.	252	Q14542	S29A2_HUMAN	N	252	ENSP00000350024:S252N;ENSP00000439456:S252N;ENSP00000440329:S252N	ENSP00000350024:S252N	S	-	2	0	SLC29A2	65890590	1.000000	0.71417	1.000000	0.80357	0.083000	0.17756	3.439000	0.52878	2.452000	0.82932	0.644000	0.83932	AGT		0.577	SLC29A2-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402093.1	NM_001532		7	52	0	0	0	0	7	52				
PPFIBP1	8496	broad.mit.edu	37	12	27829391	27829391	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:27829391G>T	ENST00000318304.8	+	18	1775	c.1492G>T	c.(1492-1494)Ggg>Tgg	p.G498W	PPFIBP1_ENST00000537927.1_Missense_Mutation_p.G345W|PPFIBP1_ENST00000542629.1_Missense_Mutation_p.G467W|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.G481W	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	498					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)			PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					CAGGCCATTTGGGACCCTTCC	0.552																																						uc001ric.1		NA																PPFIBP1/ALK(3)	0				soft_tissue(3)|kidney(1)|skin(1)	5						c.(1492-1494)GGG>TGG		PTPRF interacting protein binding protein 1							69.0	72.0	71.0					12																	27829391		2203	4300	6503	SO:0001583	missense	8496				cell adhesion	plasma membrane	protein binding	g.chr12:27829391G>T	AF034802	CCDS8713.1, CCDS55812.1, CCDS55813.1, CCDS55814.1	12p12.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9249	protein-coding gene	gene with protein product		603141				9624153, 11836260	Standard	NM_003622		Approved	L2, hSGT2, hSgt2p, SGT2	uc001ric.2	Q86W92		ENST00000318304.8:c.1492G>T	12.37:g.27829391G>T	ENSP00000314724:p.Gly498Trp					PPFIBP1_uc010sjr.1_Missense_Mutation_p.G329W|PPFIBP1_uc001rib.1_Missense_Mutation_p.G481W|PPFIBP1_uc001ria.2_Missense_Mutation_p.G467W|PPFIBP1_uc001rid.1_Missense_Mutation_p.G345W|PPFIBP1_uc001rif.1_5'Flank	p.G498W	NM_003622	NP_003613	Q86W92	LIPB1_HUMAN			18	1869	+	Lung SC(9;0.0873)		498					O75336|Q86X70|Q9NY03|Q9ULJ0	Missense_Mutation	SNP	ENST00000318304.8	37	c.1492G>T	CCDS55812.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460634	0.43736	.	.	ENSG00000110841	ENST00000540114;ENST00000537927;ENST00000318304;ENST00000542629;ENST00000228425;ENST00000537261	T;T;T;T;T	0.32753	1.44;1.47;1.88;1.88;1.89	5.64	2.81	0.32909	.	0.000000	0.34603	U	0.003822	T	0.34919	0.0914	L	0.50333	1.59	0.09310	N	1	P;P;D;P	0.57571	0.766;0.939;0.98;0.922	P;P;P;P	0.51487	0.525;0.541;0.671;0.575	T	0.12915	-1.0529	10	0.72032	D	0.01	-6.6519	8.657	0.34068	0.1391:0.1258:0.7351:0.0	.	345;498;481;467	Q86W92-3;Q86W92;Q86W92-2;Q86W92-4	.;LIPB1_HUMAN;.;.	W	329;345;498;467;481;173	ENSP00000444304:G329W;ENSP00000445425:G345W;ENSP00000314724:G498W;ENSP00000443442:G467W;ENSP00000228425:G481W	ENSP00000228425:G481W	G	+	1	0	PPFIBP1	27720658	0.961000	0.32948	0.013000	0.15412	0.175000	0.22909	2.444000	0.44890	0.727000	0.32360	0.655000	0.94253	GGG		0.552	PPFIBP1-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402877.1	NM_003622		11	227	1	0	7.04e-09	8.48e-09	11	227				
SENP1	29843	broad.mit.edu	37	12	48468185	48468185	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:48468185T>C	ENST00000004980.5	-	8	1340	c.862A>G	c.(862-864)Act>Gct	p.T288A	SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000448372.1_Missense_Mutation_p.T288A|SENP1_ENST00000549518.1_Missense_Mutation_p.T288A|SENP1_ENST00000549595.1_Missense_Mutation_p.T288A|SENP1_ENST00000551330.1_Missense_Mutation_p.T288A			Q9P0U3	SENP1_HUMAN	SUMO1/sentrin specific peptidase 1	288					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cellular protein metabolic process (GO:0044267)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-translational protein modification (GO:0043687)|protein desumoylation (GO:0016926)|protein sumoylation (GO:0016925)|proteolysis (GO:0006508)|regulation of definitive erythrocyte differentiation (GO:0010724)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endopeptidase activity (GO:0004175)|SUMO-specific protease activity (GO:0016929)			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				TGATGAAGAGTACCAGAATCT	0.408																																						uc001rqx.2		NA																	0				pancreas(2)|lung(1)	3						c.(862-864)ACT>GCT		sentrin/SUMO-specific protease 1							184.0	177.0	179.0					12																	48468185		1968	4159	6127	SO:0001583	missense	29843				activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity	g.chr12:48468185T>C	AF149770	CCDS44868.1, CCDS44868.2	12q13.1	2008-02-05	2005-08-17			ENSG00000079387			17927	protein-coding gene	gene with protein product		612157	"""SUMO1/sentrin specific protease 1"""			10652325, 14563852	Standard	NM_001267595		Approved		uc009zkx.4	Q9P0U3	OTTHUMG00000169896	ENST00000004980.5:c.862A>G	12.37:g.48468185T>C	ENSP00000004980:p.Thr288Ala					SENP1_uc001rqw.2_Missense_Mutation_p.T288A|SENP1_uc001rqy.2_Missense_Mutation_p.T89A|SENP1_uc001rqz.2_Missense_Mutation_p.T89A|SENP1_uc009zkx.2_Missense_Mutation_p.T288A	p.T288A	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN			8	1308	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	288					A8K7P5|Q86XC8	Missense_Mutation	SNP	ENST00000004980.5	37	c.862A>G	CCDS44868.2	.	.	.	.	.	.	.	.	.	.	T	0.285	-0.984016	0.02180	.	.	ENSG00000079387	ENST00000004980;ENST00000448372;ENST00000551330;ENST00000549595;ENST00000549518	T;T;T;T;T	0.14022	2.55;2.54;2.55;2.54;2.55	4.74	-1.04	0.10068	.	0.898689	0.09369	N	0.811632	T	0.05686	0.0149	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.44329	-0.9335	10	0.08837	T	0.75	0.0	3.5076	0.07696	0.2864:0.0:0.4229:0.2907	.	288;288	Q9P0U3;Q9P0U3-2	SENP1_HUMAN;.	A	288	ENSP00000004980:T288A;ENSP00000394791:T288A;ENSP00000446681:T288A;ENSP00000450076:T288A;ENSP00000447328:T288A	ENSP00000004980:T288A	T	-	1	0	SENP1	46754452	0.774000	0.28592	0.004000	0.12327	0.072000	0.16883	0.424000	0.21330	-0.264000	0.09365	-1.510000	0.00946	ACT		0.408	SENP1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406471.1	NM_014554		18	98	0	0	0	0	18	98				
KMT2D	8085	broad.mit.edu	37	12	49446699	49446699	+	Splice_Site	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:49446699T>C	ENST00000301067.7	-	8	1110	c.1111A>G	c.(1111-1113)Aga>Gga	p.R371G		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	371					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										ACCACTTACCTGCTACACACC	0.547																																						uc001rta.3		NA								N|F|Mis							medulloblastoma|renal		0				kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						c.(1111-1113)AGA>GGA		myeloid/lymphoid or mixed-lineage leukemia 2							101.0	99.0	100.0					12																	49446699		2107	4221	6328	SO:0001630	splice_region_variant	8085				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr12:49446699T>C	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.1112+1A>G	12.37:g.49446699T>C		HNSCC(34;0.089)					p.R371G	NM_003482	NP_003473	O14686	MLL2_HUMAN			8	1111	-			371					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.1111A>G	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	T	11.69	1.715141	0.30413	.	.	ENSG00000167548	ENST00000301067	T	0.79940	-1.32	5.34	5.34	0.76211	.	0.000000	0.32935	N	0.005468	T	0.65176	0.2666	N	0.08118	0	0.29534	N	0.852557	B	0.23058	0.079	B	0.19391	0.025	T	0.65565	-0.6137	10	0.87932	D	0	.	13.2486	0.60039	0.0:0.0:0.0:1.0	.	371	O14686	MLL2_HUMAN	G	371	ENSP00000301067:R371G	ENSP00000301067:R371G	R	-	1	2	MLL2	47732966	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.377000	0.34317	2.009000	0.58944	0.402000	0.26972	AGA		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		Missense_Mutation	30	91	0	0	0	0	30	91				
AQP6	363	broad.mit.edu	37	12	50367087	50367087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:50367087C>T	ENST00000315520.5	+	1	468	c.131C>T	c.(130-132)tCa>tTa	p.S44L	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	44					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGCGTGGGCTCAGTCATGCGC	0.607																																						uc001rvr.1		NA																	0					0						c.(130-132)TCA>TTA		aquaporin 6							160.0	140.0	147.0					12																	50367087		2203	4300	6503	SO:0001583	missense	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50367087C>T	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.131C>T	12.37:g.50367087C>T	ENSP00000320247:p.Ser44Leu					AQP6_uc001rvp.1_Intron|AQP6_uc001rvq.1_RNA	p.S44L	NM_001652	NP_001643	Q13520	AQP6_HUMAN			1	468	+			44			Helical; (Potential).			Missense_Mutation	SNP	ENST00000315520.5	37	c.131C>T	CCDS31798.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904579	0.72868	.	.	ENSG00000086159	ENST00000315520	D	0.86366	-2.11	5.37	5.37	0.77165	Aquaporin-like (2);	0.256207	0.26213	N	0.025665	D	0.96331	0.8803	H	0.98276	4.19	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97786	1.0235	10	0.87932	D	0	-7.3469	18.2759	0.90083	0.0:1.0:0.0:0.0	.	44	Q13520	AQP6_HUMAN	L	44	ENSP00000320247:S44L	ENSP00000320247:S44L	S	+	2	0	AQP6	48653354	1.000000	0.71417	0.887000	0.34795	0.148000	0.21650	5.772000	0.68889	2.711000	0.92665	0.561000	0.74099	TCA		0.607	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	NM_001652, NM_053286		23	80	0	0	0	0	23	80				
BBS10	79738	broad.mit.edu	37	12	76741323	76741323	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:76741323A>T	ENST00000393262.3	-	2	525	c.442T>A	c.(442-444)Tac>Aac	p.Y148N		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	148					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|regulation of protein complex assembly (GO:0043254)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|visual perception (GO:0007601)	cell projection (GO:0042995)	ATP binding (GO:0005524)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTACTTAGGTACTGGTCCATA	0.393									Bardet-Biedl syndrome																													uc001syd.1		NA																	0				ovary(1)|skin(1)	2						c.(442-444)TAC>AAC		Bardet-Biedl syndrome 10							69.0	64.0	66.0					12																	76741323		2203	4300	6503	SO:0001583	missense	79738	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding	g.chr12:76741323A>T	BC026355	CCDS9014.2	12q21.2	2014-06-17	2006-04-28	2006-04-28	ENSG00000179941	ENSG00000179941		"""Heat Shock Proteins / Chaperonins"""	26291	protein-coding gene	gene with protein product		610148	"""chromosome 12 open reading frame 58"""	C12orf58		16582908	Standard	NM_024685		Approved	FLJ23560	uc001syd.1	Q8TAM1	OTTHUMG00000147352	ENST00000393262.3:c.442T>A	12.37:g.76741323A>T	ENSP00000376946:p.Tyr148Asn						p.Y148N	NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN			2	526	-			148					Q96CW2|Q9H5D2	Missense_Mutation	SNP	ENST00000393262.3	37	c.442T>A	CCDS9014.2	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898370	0.33535	.	.	ENSG00000179941	ENST00000393262;ENST00000547830	D	0.85171	-1.95	5.34	0.281	0.15687	.	1.153480	0.06201	N	0.683319	T	0.78672	0.4320	L	0.60455	1.87	0.09310	N	1	P	0.38677	0.642	B	0.33960	0.173	T	0.62950	-0.6745	10	0.32370	T	0.25	2.4564	4.145	0.10212	0.5174:0.0:0.331:0.1516	.	148	Q8TAM1	BBS10_HUMAN	N	148;82	ENSP00000376946:Y148N	ENSP00000376946:Y148N	Y	-	1	0	BBS10	75265454	0.152000	0.22762	0.001000	0.08648	0.991000	0.79684	0.548000	0.23314	-0.034000	0.13713	0.528000	0.53228	TAC		0.393	BBS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303983.2	NM_024685		11	65	0	0	0	0	11	65				
HAL	3034	broad.mit.edu	37	12	96377733	96377733	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr12:96377733T>C	ENST00000261208.3	-	15	1611	c.1243A>G	c.(1243-1245)Aag>Gag	p.K415E	HAL_ENST00000538703.1_Missense_Mutation_p.K415E|HAL_ENST00000541929.1_Missense_Mutation_p.K207E	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	415					biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	histidine ammonia-lyase activity (GO:0004397)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ATGATGTTCTTCACAAATGCT	0.338																																					NSCLC(169;943 2815 23563 30031)	uc001tem.1		NA																	0				ovary(2)|skin(1)	3						c.(1243-1245)AAG>GAG		histidine ammonia-lyase	L-Histidine(DB00117)						150.0	125.0	134.0					12																	96377733		2203	4300	6503	SO:0001583	missense	3034				biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	g.chr12:96377733T>C		CCDS9058.1, CCDS58264.1, CCDS58265.1	12q22-q24.1	1991-07-12				ENSG00000084110	4.3.1.3		4806	protein-coding gene	gene with protein product		609457		HIS			Standard	NM_002108		Approved		uc001tem.2	P42357	OTTHUMG00000170354	ENST00000261208.3:c.1243A>G	12.37:g.96377733T>C	ENSP00000261208:p.Lys415Glu					HAL_uc009zti.1_RNA|HAL_uc010suw.1_Missense_Mutation_p.K207E|HAL_uc010sux.1_Missense_Mutation_p.K415E	p.K415E	NM_002108	NP_002099	P42357	HUTH_HUMAN			15	1540	-			415					B4DQC1|B4E0V8|F5GXF2|F5H1U5|Q4VB92|Q4VB93	Missense_Mutation	SNP	ENST00000261208.3	37	c.1243A>G	CCDS9058.1	.	.	.	.	.	.	.	.	.	.	T	7.404	0.633446	0.14322	.	.	ENSG00000084110	ENST00000261208;ENST00000541929;ENST00000538703	T;T;T	0.76709	-1.04;-1.04;-1.04	5.26	5.26	0.73747	L-Aspartase-like (1);	0.138755	0.64402	D	0.000004	T	0.65873	0.2733	N	0.17379	0.485	0.50632	D	0.999883	B;B	0.14805	0.007;0.011	B;B	0.22880	0.006;0.042	T	0.61559	-0.7038	10	0.36615	T	0.2	-23.0416	15.4723	0.75449	0.0:0.0:0.0:1.0	.	415;415	F5GXF2;P42357	.;HUTH_HUMAN	E	415;207;415	ENSP00000261208:K415E;ENSP00000446364:K207E;ENSP00000440861:K415E	ENSP00000261208:K415E	K	-	1	0	HAL	94901864	1.000000	0.71417	1.000000	0.80357	0.101000	0.19017	4.711000	0.61881	2.112000	0.64535	0.528000	0.53228	AAG		0.338	HAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408644.1			21	39	0	0	0	0	21	39				
DHRS1	115817	broad.mit.edu	37	14	24760813	24760813	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:24760813A>G	ENST00000288111.7	-	7	949	c.673T>C	c.(673-675)Tct>Cct	p.S225P	DHRS1_ENST00000396813.1_Missense_Mutation_p.S225P|DHRS1_ENST00000559088.1_5'UTR	NM_001136050.2	NP_001129522.1	Q96LJ7	DHRS1_HUMAN	dehydrogenase/reductase (SDR family) member 1	225						endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6				GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)		GTTTCCGCAGATGAGAAGGCT	0.488																																						uc001woj.1		NA																	0					0						c.(673-675)TCT>CCT		dehydrogenase/reductase (SDR family) member 1							186.0	181.0	183.0					14																	24760813		2203	4300	6503	SO:0001583	missense	115817					endoplasmic reticulum	binding|oxidoreductase activity	g.chr14:24760813A>G	AK058159	CCDS9623.1	14q11.2	2011-09-14			ENSG00000157379	ENSG00000157379	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16445	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 19C, member 1"""	610410				12153138, 19027726	Standard	NM_138452		Approved	FLJ25430, MGC20204, SDR19C1	uc001wok.3	Q96LJ7	OTTHUMG00000029333	ENST00000288111.7:c.673T>C	14.37:g.24760813A>G	ENSP00000288111:p.Ser225Pro					DHRS1_uc010aln.1_Intron|DHRS1_uc001wok.2_Missense_Mutation_p.S225P	p.S225P	NM_138452	NP_612461	Q96LJ7	DHRS1_HUMAN		GBM - Glioblastoma multiforme(265;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(311;0.0442)	7	942	-			225					D3DS71|Q8NDG3|Q96B59|Q96CQ5	Missense_Mutation	SNP	ENST00000288111.7	37	c.673T>C	CCDS9623.1	.	.	.	.	.	.	.	.	.	.	A	14.70	2.613206	0.46631	.	.	ENSG00000157379	ENST00000288111;ENST00000396813	D;D	0.89123	-2.47;-2.47	5.97	-5.81	0.02340	NAD(P)-binding domain (1);	0.645278	0.16210	N	0.224502	D	0.82582	0.5068	M	0.72894	2.215	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.67829	-0.5569	10	0.27082	T	0.32	-5.0067	7.2415	0.26100	0.1771:0.3204:0.0:0.5025	.	225	Q96LJ7	DHRS1_HUMAN	P	225	ENSP00000288111:S225P;ENSP00000380027:S225P	ENSP00000288111:S225P	S	-	1	0	DHRS1	23830653	0.000000	0.05858	0.002000	0.10522	0.142000	0.21351	-0.447000	0.06828	-0.426000	0.07360	0.482000	0.46254	TCT		0.488	DHRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073168.4	NM_138452		34	218	0	0	0	0	34	218				
SYT16	83851	broad.mit.edu	37	14	62567240	62567240	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:62567240C>T	ENST00000430451.2	+	6	1950	c.1753C>T	c.(1753-1755)Cag>Tag	p.Q585*	RP11-355I22.2_ENST00000554252.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	585	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GGCCCTCTTTCAGCTGTCTGA	0.502																																						uc001xfu.1		NA																	0				central_nervous_system(1)	1						c.(1753-1755)CAG>TAG		synaptotagmin XIV-like							87.0	85.0	85.0					14																	62567240		1983	4154	6137	SO:0001587	stop_gained	83851							g.chr14:62567240C>T	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1753C>T	14.37:g.62567240C>T	ENSP00000394700:p.Gln585*					SYT16_uc010tse.1_Nonsense_Mutation_p.Q143*	p.Q585*	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	6	1950	+			585			C2 2.		B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Nonsense_Mutation	SNP	ENST00000430451.2	37	c.1753C>T	CCDS45121.1	.	.	.	.	.	.	.	.	.	.	C	39	7.785762	0.98489	.	.	ENSG00000139973	ENST00000430451	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-9.0702	19.1089	0.93309	0.0:1.0:0.0:0.0	.	.	.	.	X	585	.	ENSP00000394700:Q585X	Q	+	1	0	SYT16	61636993	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.461000	0.80834	2.520000	0.84964	0.655000	0.94253	CAG		0.502	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914		15	31	0	0	0	0	15	31				
SYNE2	23224	broad.mit.edu	37	14	64496627	64496627	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr14:64496627C>G	ENST00000344113.4	+	44	6941	c.6729C>G	c.(6727-6729)aaC>aaG	p.N2243K	SYNE2_ENST00000358025.3_Missense_Mutation_p.N2243K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.N2243K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2243					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CTGTGCAAAACTTGGACGGTC	0.338																																						uc001xgm.2		NA																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(6727-6729)AAC>AAG		spectrin repeat containing, nuclear envelope 2							78.0	74.0	76.0					14																	64496627		1821	4085	5906	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64496627C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6729C>G	14.37:g.64496627C>G	ENSP00000341781:p.Asn2243Lys					SYNE2_uc001xgl.2_Missense_Mutation_p.N2243K	p.N2243K	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	44	6959	+			2243			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.6729C>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	2.721	-0.266660	0.05754	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.29917	1.55;1.55;1.55	5.24	-1.27	0.09347	.	0.313765	0.27354	N	0.019760	T	0.06554	0.0168	N	0.01352	-0.895	0.38995	D	0.959223	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.40720	-0.9548	10	0.02654	T	1	.	4.8559	0.13559	0.4193:0.312:0.2687:0.0	.	2243;2243	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	K	2243	ENSP00000350719:N2243K;ENSP00000341781:N2243K;ENSP00000452570:N2243K	ENSP00000261678:N2243K	N	+	3	2	SYNE2	63566380	0.377000	0.25106	0.675000	0.29917	0.125000	0.20455	0.421000	0.21280	-0.158000	0.11040	-0.262000	0.10625	AAC		0.338	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	25	0	0	0	0	5	25				
MTFMT	123263	broad.mit.edu	37	15	65313852	65313852	+	Splice_Site	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr15:65313852C>A	ENST00000220058.4	-	4	658	c.645G>T	c.(643-645)atG>atT	p.M215I	MTFMT_ENST00000561025.1_5'UTR	NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	215						mitochondrion (GO:0005739)	methionyl-tRNA formyltransferase activity (GO:0004479)			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	GGAATTATACCATGTTGGCAC	0.383																																						uc002aof.3		NA																	0				ovary(2)	2						c.(643-645)ATG>ATT		mitochondrial methionyl-tRNA formyltransferase	Tetrahydrofolic acid(DB00116)						145.0	138.0	140.0					15																	65313852		1848	4092	5940	SO:0001630	splice_region_variant	123263					mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity	g.chr15:65313852C>A	AK055688	CCDS45280.1	15q22.31	2006-11-29		2005-08-09		ENSG00000103707			29666	protein-coding gene	gene with protein product		611766				9614118	Standard	NM_139242		Approved	FMT1	uc002aof.4	Q96DP5		ENST00000220058.4:c.645+1G>T	15.37:g.65313852C>A							p.M215I	NM_139242	NP_640335	Q96DP5	FMT_HUMAN			4	671	-			215					B7Z734	Missense_Mutation	SNP	ENST00000220058.4	37	c.645G>T	CCDS45280.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642754	0.67244	.	.	ENSG00000103707	ENST00000220058	T	0.75260	-0.92	5.48	5.48	0.80851	Formyl transferase, N-terminal (3);	0.091344	0.85682	D	0.000000	T	0.80232	0.4585	L	0.56340	1.77	0.53688	D	0.999977	D	0.53619	0.961	P	0.54629	0.757	T	0.78934	-0.2008	9	.	.	.	-30.2389	18.1175	0.89561	0.0:1.0:0.0:0.0	.	215	Q96DP5	FMT_HUMAN	I	215	ENSP00000220058:M215I	.	M	-	3	0	MTFMT	63100905	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	4.689000	0.61723	2.560000	0.86352	0.563000	0.77884	ATG		0.383	MTFMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418155.1	NM_139242	Missense_Mutation	20	50	1	0	1.02e-10	1.24e-10	20	50				
RGS11	8786	broad.mit.edu	37	16	321023	321023	+	Silent	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:321023C>A	ENST00000397770.3	-	13	956	c.939G>T	c.(937-939)ggG>ggT	p.G313G	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Silent_p.G292G|RGS11_ENST00000359740.5_Silent_p.G302G			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	313	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				AGTGGGCCCGCCCCACGGGGT	0.682																																						uc002cgj.1		NA																	0				lung(1)|pancreas(1)	2						c.(937-939)GGG>GGT		regulator of G-protein signalling 11 isoform 1							14.0	20.0	18.0					16																	321023		2172	4237	6409	SO:0001819	synonymous_variant	8786				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity	g.chr16:321023C>A	AF035153	CCDS10403.1, CCDS42088.1, CCDS66884.1	16p13.3	2008-07-28	2007-08-14		ENSG00000076344	ENSG00000076344		"""Regulators of G-protein signaling"""	9993	protein-coding gene	gene with protein product		603895	"""regulator of G-protein signalling 11"""			9789084	Standard	NM_001286486		Approved		uc002cgj.1	O94810	OTTHUMG00000064893	ENST00000397770.3:c.939G>T	16.37:g.321023C>A						RGS11_uc002cgi.1_Silent_p.G292G|RGS11_uc010bqs.1_Silent_p.G302G|RGS11_uc002cgk.1_Silent_p.G129G	p.G313G	NM_183337	NP_899180	O94810	RGS11_HUMAN			13	942	-		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)	313			RGS.		O75883|Q4TT71|Q4TT72	Silent	SNP	ENST00000397770.3	37	c.939G>T	CCDS42088.1																																																																																				0.682	RGS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139325.2			3	36	1	0	0.00024832	0.000276538	3	36				
SRRM2	23524	broad.mit.edu	37	16	2812431	2812431	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:2812431G>T	ENST00000301740.8	+	11	2451	c.1902G>T	c.(1900-1902)agG>agT	p.R634S		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	634	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TACGACGCAGGTCTCGTAGTA	0.622																																						uc002crk.2		NA																	0				ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1)	4						c.(1900-1902)AGG>AGT		splicing coactivator subunit SRm300							89.0	87.0	88.0					16																	2812431		2198	4300	6498	SO:0001583	missense	23524					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	g.chr16:2812431G>T	AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.1902G>T	16.37:g.2812431G>T	ENSP00000301740:p.Arg634Ser					SRRM2_uc002crj.1_Missense_Mutation_p.R538S|SRRM2_uc002crl.1_Missense_Mutation_p.R634S|SRRM2_uc010bsu.1_Missense_Mutation_p.R538S	p.R634S	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN			11	2451	+			634			Arg-rich.|Ser-rich.		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	c.1902G>T	CCDS32373.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491051	0.26774	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000426305	T	0.28895	1.59	5.91	-2.33	0.06724	.	0.000000	0.64402	D	0.000004	T	0.32346	0.0826	L	0.27053	0.805	0.30734	N	0.746917	D	0.71674	0.998	D	0.76071	0.987	T	0.27640	-1.0068	10	0.48119	T	0.1	-12.0162	7.0839	0.25247	0.475:0.1198:0.4052:0.0	.	634	Q9UQ35	SRRM2_HUMAN	S	634;634;599	ENSP00000301740:R634S	ENSP00000301740:R634S	R	+	3	2	SRRM2	2752432	0.998000	0.40836	0.861000	0.33841	0.785000	0.44390	0.238000	0.18004	-0.237000	0.09739	0.655000	0.94253	AGG		0.622	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			22	80	1	0	3.6e-14	4.48e-14	22	80				
ACSM2A	123876	broad.mit.edu	37	16	20480920	20480920	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:20480920G>T	ENST00000573854.1	+	4	589	c.475G>T	c.(475-477)Gct>Tct	p.A159S	ACSM2A_ENST00000575690.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000417235.2_Missense_Mutation_p.A80S|ACSM2A_ENST00000424070.1_Missense_Mutation_p.A159S|ACSM2A_ENST00000219054.6_Missense_Mutation_p.A159S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Missense_Mutation_p.A159S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	159					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTATTGTTGCTGGGGATGA	0.458																																						uc010bwe.2		NA																	0				skin(2)|breast(1)	3						c.(475-477)GCT>TCT		acyl-CoA synthetase medium-chain family member							61.0	61.0	61.0					16																	20480920		2202	4280	6482	SO:0001583	missense	123876				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	g.chr16:20480920G>T	AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.475G>T	16.37:g.20480920G>T	ENSP00000459451:p.Ala159Ser					ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Missense_Mutation_p.A80S|ACSM2A_uc002dhf.3_Missense_Mutation_p.A159S|ACSM2A_uc002dhg.3_Missense_Mutation_p.A159S|ACSM2A_uc010vay.1_Missense_Mutation_p.A80S	p.A159S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN			5	714	+			159					B3KTT9|O75202	Missense_Mutation	SNP	ENST00000573854.1	37	c.475G>T	CCDS32401.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.184733	0.38609	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	4.04	2.79	0.32731	AMP-dependent synthetase/ligase (1);	0.156806	0.30051	N	0.010538	T	0.47967	0.1474	L	0.43554	1.36	0.37472	D	0.915631	B;B	0.30406	0.278;0.278	P;P	0.47134	0.539;0.539	T	0.54139	-0.8338	10	0.45353	T	0.12	-7.8415	5.851	0.18694	0.3246:0.0:0.6754:0.0	.	80;159	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	S	80;159;159;159	ENSP00000392169:A80S;ENSP00000219054:A159S;ENSP00000394904:A159S;ENSP00000379411:A159S	ENSP00000219054:A159S	A	+	1	0	ACSM2A	20388421	0.996000	0.38824	0.996000	0.52242	0.103000	0.19146	0.860000	0.27871	1.806000	0.52798	0.298000	0.19748	GCT		0.458	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436764.1	NM_001010845		52	128	1	0	2.76e-25	3.52e-25	52	128				
DNAH3	55567	broad.mit.edu	37	16	21069448	21069448	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:21069448T>A	ENST00000261383.3	-	27	3882	c.3883A>T	c.(3883-3885)Acc>Tcc	p.T1295S	DNAH3_ENST00000415178.1_Missense_Mutation_p.T1295S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1295	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCTGGGTCCAAAAGATG	0.478																																						uc010vbe.1		NA																	0				ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)	18						c.(3883-3885)ACC>TCC		dynein, axonemal, heavy chain 3							88.0	85.0	86.0					16																	21069448		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21069448T>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.3883A>T	16.37:g.21069448T>A	ENSP00000261383:p.Thr1295Ser						p.T1295S	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	27	3883	-			1295			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.3883A>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.671372	0.88348	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.62232	0.04;0.04	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.81706	0.4879	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84899	0.0841	10	0.62326	D	0.03	.	15.6553	0.77129	0.0:0.0:0.0:1.0	.	1295	Q8TD57	DYH3_HUMAN	S	1295	ENSP00000261383:T1295S;ENSP00000394245:T1295S	ENSP00000261383:T1295S	T	-	1	0	DNAH3	20976949	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	7.968000	0.87980	2.162000	0.67917	0.477000	0.44152	ACC		0.478	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		16	36	0	0	0	0	16	36				
GTF3C1	2975	broad.mit.edu	37	16	27476027	27476027	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:27476027C>G	ENST00000356183.4	-	34	5501	c.5486G>C	c.(5485-5487)aGa>aCa	p.R1829T	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R1829T	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1829					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGGGTCTTCTCTCTGGATGTC	0.672																																						uc002dov.1		NA																	0				ovary(2)|pancreas(1)|breast(1)|skin(1)	5						c.(5485-5487)AGA>ACA		general transcription factor IIIC, polypeptide							24.0	30.0	28.0					16																	27476027		2111	4151	6262	SO:0001583	missense	2975					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr16:27476027C>G	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5486G>C	16.37:g.27476027C>G	ENSP00000348510:p.Arg1829Thr					GTF3C1_uc002dou.2_Missense_Mutation_p.R1829T	p.R1829T	NM_001520	NP_001511	Q12789	TF3C1_HUMAN			34	5526	-			1829					B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	37	c.5486G>C	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	C	3.121	-0.180478	0.06380	.	.	ENSG00000077235	ENST00000356183	T	0.21932	1.98	4.78	0.021	0.14127	.	1.029190	0.07678	N	0.936612	T	0.13927	0.0337	L	0.34521	1.04	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.08055	0.001;0.003	T	0.38457	-0.9660	10	0.15066	T	0.55	-20.0238	7.0727	0.25187	0.0:0.6131:0.1416:0.2453	.	1829;1829	Q12789;Q12789-3	TF3C1_HUMAN;.	T	1829	ENSP00000348510:R1829T	ENSP00000348510:R1829T	R	-	2	0	GTF3C1	27383528	0.000000	0.05858	0.001000	0.08648	0.068000	0.16541	-0.140000	0.10342	0.122000	0.18314	0.561000	0.74099	AGA		0.672	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520		17	69	0	0	0	0	17	69				
CNOT1	23019	broad.mit.edu	37	16	58592411	58592411	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr16:58592411G>T	ENST00000317147.5	-	18	2630	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	CNOT1_ENST00000569240.1_Missense_Mutation_p.F766L|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.F766L|SNORA50_ENST00000384225.2_RNA	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	766					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of stem cell maintenance (GO:2000036)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|retinoic acid receptor binding (GO:0042974)			breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAATACCACTGAATGCAGTGG	0.463																																						uc002env.2		NA																	0				ovary(4)|central_nervous_system(2)	6						c.(2296-2298)TTC>TTA		CCR4-NOT transcription complex, subunit 1							85.0	76.0	79.0					16																	58592411		2198	4300	6498	SO:0001583	missense	23019				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		g.chr16:58592411G>T	AL833549	CCDS10799.1, CCDS45501.1, CCDS58468.1	16q21	2008-02-05			ENSG00000125107	ENSG00000125107			7877	protein-coding gene	gene with protein product		604917		NOT1		14702039	Standard	NM_016284		Approved	CDC39, NOT1H, KIAA1007, AD-005	uc002env.4	A5YKK6	OTTHUMG00000133487	ENST00000317147.5:c.2298C>A	16.37:g.58592411G>T	ENSP00000320949:p.Phe766Leu					CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F766L|CNOT1_uc002enx.2_Missense_Mutation_p.F766L|CNOT1_uc002enz.1_Missense_Mutation_p.F195L	p.F766L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN		Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)	18	2591	-			766					Q68DX7|Q7Z3K2|Q8IWB8|Q8TB53|Q9BVZ6|Q9UFR8|Q9UI27|Q9Y2L0	Missense_Mutation	SNP	ENST00000317147.5	37	c.2298C>A	CCDS10799.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.389742	0.25118	.	.	ENSG00000125107	ENST00000317147;ENST00000422872;ENST00000394200;ENST00000441024	T;T	0.44083	0.98;0.93	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.42877	0.1222	N	0.16368	0.405	0.80722	D	1	P;B;B	0.52577	0.954;0.0;0.002	D;B;B	0.66351	0.943;0.001;0.004	T	0.12477	-1.0546	10	0.09590	T	0.72	.	13.7743	0.63044	0.0737:0.0:0.9263:0.0	.	766;766;766	A5YKK6-4;A5YKK6;A5YKK6-2	.;CNOT1_HUMAN;.	L	766;195;766;766	ENSP00000320949:F766L;ENSP00000413113:F766L	ENSP00000320949:F766L	F	-	3	2	CNOT1	57149912	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.582000	0.53921	2.674000	0.91012	0.655000	0.94253	TTC		0.463	CNOT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257385.3	NM_016284		10	35	1	0	6.4e-05	7.32e-05	10	35				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	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	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	uc002gim.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		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(205)|p.Y220N(12)|p.Y220H(9)|p.Y220S(9)|p.0?(7)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(2)|p.Y127C(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.?(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*1(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)TAT>TGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.2_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.1_Missense_Mutation_p.Y181C	p.Y220C	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> N (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	20	0	0	0	0	12	20				
DNAH2	146754	broad.mit.edu	37	17	7734767	7734767	+	Silent	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:7734767G>C	ENST00000572933.1	+	81	13979	c.12519G>C	c.(12517-12519)ggG>ggC	p.G4173G	DNAH2_ENST00000389173.2_Silent_p.G4173G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4173					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACTATGAGGGGACTCAAAAAC	0.527																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(12517-12519)GGG>GGC		dynein heavy chain domain 3							85.0	80.0	81.0					17																	7734767		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7734767G>C	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12519G>C	17.37:g.7734767G>C						DNAH2_uc010cnm.1_Silent_p.G1111G	p.G4173G	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			80	12533	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	4173					A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.12519G>C	CCDS32551.1																																																																																				0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		12	37	0	0	0	0	12	37				
RNF135	84282	broad.mit.edu	37	17	29326075	29326075	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:29326075T>C	ENST00000328381.5	+	5	2038	c.1165T>C	c.(1165-1167)Ttc>Ctc	p.F389L	RNF135_ENST00000324689.4_3'UTR|RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	389	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-beta production (GO:0032728)|protein ubiquitination (GO:0016567)|regulation of innate immune response (GO:0045088)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				AAAGCTTGCCTTCTATTCAGT	0.532																																						uc002hfz.2		NA																	1	Unknown(1)	p.?(1)	central_nervous_system(1)	skin(2)	2						c.(1165-1167)TTC>CTC		ring finger protein 135 isoform 1							117.0	115.0	116.0					17																	29326075		2203	4300	6503	SO:0001583	missense	84282				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:29326075T>C	AJ496729	CCDS11262.1, CCDS11263.1, CCDS54104.1	17q11.2	2013-01-09			ENSG00000181481	ENSG00000181481		"""RING-type (C3HC4) zinc fingers"""	21158	protein-coding gene	gene with protein product	"""riplet"""	611358				11468690, 19017631	Standard	NM_001184992		Approved	MGC13061	uc002hfz.3	Q8IUD6	OTTHUMG00000132867	ENST00000328381.5:c.1165T>C	17.37:g.29326075T>C	ENSP00000328340:p.Phe389Leu					RNF135_uc002hga.2_3'UTR|RNF135_uc010csm.2_3'UTR|RNF135_uc002hgb.2_3'UTR	p.F389L	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN			5	1301	+		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)	389			B30.2/SPRY.		A0AVM5|B2R7G9|B6ZLM5|F5GX60|Q9BSE9	Missense_Mutation	SNP	ENST00000328381.5	37	c.1165T>C	CCDS11262.1	.	.	.	.	.	.	.	.	.	.	T	27.0	4.788634	0.90367	.	.	ENSG00000181481	ENST00000328381;ENST00000535605	D	0.89343	-2.5	5.21	5.21	0.72293	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.47093	D	0.000241	D	0.95121	0.8419	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95864	0.8885	10	0.87932	D	0	-20.0779	13.3379	0.60528	0.0:0.0:0.0:1.0	.	389	Q8IUD6	RN135_HUMAN	L	389;208	ENSP00000328340:F389L	ENSP00000328340:F389L	F	+	1	0	RNF135	26350201	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	5.296000	0.65698	2.112000	0.64535	0.533000	0.62120	TTC		0.532	RNF135-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256342.3	NM_032322		25	71	0	0	0	0	25	71				
MED13	9969	broad.mit.edu	37	17	60032881	60032881	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:60032881T>A	ENST00000397786.2	-	26	5906	c.5830A>T	c.(5830-5832)Atg>Ttg	p.M1944L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1944					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GATGTCTGCATATTTAGAGTC	0.343																																						uc002izo.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(5830-5832)ATG>TTG		mediator complex subunit 13							160.0	149.0	152.0					17																	60032881		1856	4101	5957	SO:0001583	missense	9969				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:60032881T>A	AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5830A>T	17.37:g.60032881T>A	ENSP00000380888:p.Met1944Leu						p.M1944L	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN			26	5907	-			1944					B2RU05|O60334	Missense_Mutation	SNP	ENST00000397786.2	37	c.5830A>T	CCDS42366.1	.	.	.	.	.	.	.	.	.	.	T	15.37	2.813526	0.50527	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.81330	-1.48	5.67	4.6	0.57074	.	0.074260	0.85682	D	0.000000	T	0.67420	0.2891	N	0.25201	0.72	0.58432	D	0.999999	B	0.19445	0.036	B	0.18871	0.023	T	0.59322	-0.7476	10	0.23302	T	0.38	-9.8683	11.473	0.50280	0.0:0.0703:0.0:0.9297	.	1944	Q9UHV7	MED13_HUMAN	L	1944;1943	ENSP00000380888:M1944L	ENSP00000262436:M1943L	M	-	1	0	MED13	57387663	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.698000	0.84413	0.992000	0.38840	0.383000	0.25322	ATG		0.343	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445461.1	NM_005121		23	134	0	0	0	0	23	134				
SLC26A11	284129	broad.mit.edu	37	17	78223009	78223009	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr17:78223009A>G	ENST00000361193.3	+	16	1859	c.1579A>G	c.(1579-1581)Act>Gct	p.T527A	SLC26A11_ENST00000546047.2_Missense_Mutation_p.T527A|SLC26A11_ENST00000572725.1_Missense_Mutation_p.T527A|SLC26A11_ENST00000411502.3_Missense_Mutation_p.T527A	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3			solute carrier family 26 (anion exchanger), member 11											central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CATCGACTACACTGTGGTGCT	0.672																																						uc002jyb.1		NA																	0					0						c.(1579-1581)ACT>GCT		solute carrier family 26, member 11							51.0	45.0	47.0					17																	78223009		2203	4300	6503	SO:0001583	missense	284129					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity	g.chr17:78223009A>G		CCDS11771.2	17q25	2013-07-18	2013-07-18		ENSG00000181045	ENSG00000181045		"""Solute carriers"""	14471	protein-coding gene	gene with protein product		610117	"""solute carrier family 26, member 11"""				Standard	NM_001166347		Approved		uc010dhv.2	Q86WA9	OTTHUMG00000133419	ENST00000361193.3:c.1579A>G	17.37:g.78223009A>G	ENSP00000355384:p.Thr527Ala					SLC26A11_uc002jyc.1_Missense_Mutation_p.T527A|SLC26A11_uc002jyd.1_Missense_Mutation_p.T527A|SLC26A11_uc010dhv.1_Missense_Mutation_p.T527A	p.T527A	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		16	1848	+	all_neural(118;0.0538)		527			Extracellular (Potential).|STAS.			Missense_Mutation	SNP	ENST00000361193.3	37	c.1579A>G	CCDS11771.2	.	.	.	.	.	.	.	.	.	.	A	20.8	4.050208	0.75846	.	.	ENSG00000181045	ENST00000411502;ENST00000546047;ENST00000361193	D;D;D	0.87491	-2.26;-2.26;-2.26	4.61	4.61	0.57282	Sulphate transporter/antisigma-factor antagonist STAS (4);	0.048460	0.85682	D	0.000000	D	0.91556	0.7333	M	0.84326	2.69	0.50813	D	0.999894	D	0.55605	0.972	P	0.56216	0.794	D	0.92172	0.5744	10	0.54805	T	0.06	-28.7666	12.593	0.56453	1.0:0.0:0.0:0.0	.	527	Q86WA9	S2611_HUMAN	A	527	ENSP00000403998:T527A;ENSP00000440724:T527A;ENSP00000355384:T527A	ENSP00000355384:T527A	T	+	1	0	SLC26A11	75837604	1.000000	0.71417	0.993000	0.49108	0.956000	0.61745	5.023000	0.64084	1.851000	0.53745	0.456000	0.33151	ACT		0.672	SLC26A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257281.1			5	25	0	0	0	0	5	25				
ROCK1	6093	broad.mit.edu	37	18	18534911	18534911	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:18534911T>C	ENST00000399799.2	-	31	4626	c.3686A>G	c.(3685-3687)cAt>cGt	p.H1229R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	1229	Auto-inhibitory.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apical constriction (GO:0003383)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|bleb assembly (GO:0032060)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of focal adhesion assembly (GO:0051894)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					AATAAACTCATGGCCTTTGTG	0.413																																						uc002kte.2		NA																	0				lung(2)|breast(2)|central_nervous_system(1)	5						c.(3685-3687)CAT>CGT		Rho-associated, coiled-coil containing protein							73.0	58.0	63.0					18																	18534911		2203	4300	6503	SO:0001583	missense	6093				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity	g.chr18:18534911T>C		CCDS11870.2	18q11.2	2013-01-10			ENSG00000067900	ENSG00000067900	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10251	protein-coding gene	gene with protein product		601702				8617235	Standard	NM_005406		Approved	p160ROCK	uc002kte.3	Q13464	OTTHUMG00000131723	ENST00000399799.2:c.3686A>G	18.37:g.18534911T>C	ENSP00000382697:p.His1229Arg						p.H1229R	NM_005406	NP_005397	Q13464	ROCK1_HUMAN			31	4627	-	Melanoma(1;0.165)		1229			PH.|Auto-inhibitory.|Phorbol-ester/DAG-type.		B0YJ91|Q2KHM4|Q59GZ4	Missense_Mutation	SNP	ENST00000399799.2	37	c.3686A>G	CCDS11870.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.328959	0.81690	.	.	ENSG00000067900	ENST00000399799	D	0.84516	-1.86	5.43	5.43	0.79202	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	M	0.69523	2.12	0.80722	D	1	D	0.56287	0.975	P	0.58130	0.833	D	0.91451	0.5181	10	0.87932	D	0	.	15.4648	0.75390	0.0:0.0:0.0:1.0	.	1229	Q13464	ROCK1_HUMAN	R	1229	ENSP00000382697:H1229R	ENSP00000382697:H1229R	H	-	2	0	ROCK1	16788909	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.994000	0.88315	2.045000	0.60652	0.443000	0.29094	CAT		0.413	ROCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254641.2	NM_005406		11	37	0	0	0	0	11	37				
B4GALT6	9331	broad.mit.edu	37	18	29211087	29211087	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr18:29211087C>T	ENST00000306851.5	-	6	907	c.611G>A	c.(610-612)cGt>cAt	p.R204H	B4GALT6_ENST00000237019.7_Missense_Mutation_p.R165H|B4GALT6_ENST00000383131.3_Missense_Mutation_p.R165H	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	204	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			AAGCATCGCACGGTTAAAAGG	0.398																																						uc002kwz.3		NA																	0					0						c.(610-612)CGT>CAT		beta-1,4-galactosyltransferase 6							72.0	70.0	70.0					18																	29211087		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29211087C>T	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.611G>A	18.37:g.29211087C>T	ENSP00000306459:p.Arg204His					B4GALT6_uc010dma.2_Missense_Mutation_p.R165H|B4GALT6_uc010dmb.2_Missense_Mutation_p.R165H	p.R204H	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		6	908	-			204			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.611G>A	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577879	0.86645	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	T;T;T	0.28454	1.61;1.61;1.61	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.70675	0.3251	H	0.96175	3.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.993;0.994;0.996	T	0.80417	-0.1391	10	0.87932	D	0	-12.2736	19.7586	0.96304	0.0:1.0:0.0:0.0	.	165;165;204	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	H	204;165;165	ENSP00000306459:R204H;ENSP00000237019:R165H;ENSP00000372613:R165H	ENSP00000237019:R165H	R	-	2	0	B4GALT6	27465085	1.000000	0.71417	1.000000	0.80357	0.450000	0.32258	7.750000	0.85110	2.754000	0.94517	0.585000	0.79938	CGT		0.398	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		19	37	0	0	0	0	19	37				
S1PR4	8698	broad.mit.edu	37	19	3179854	3179854	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:3179854T>A	ENST00000246115.3	+	1	1119	c.1064T>A	c.(1063-1065)cTg>cAg	p.L355Q		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	355					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GACAGCTCTCTGAGGCCAAGG	0.682																																					GBM(82;318 1638 33279 49708)	uc002lxg.2		NA																	0				lung(1)|skin(1)	2						c.(1063-1065)CTG>CAG		sphingosine-1-phosphate receptor 4 precursor							51.0	60.0	57.0					19																	3179854		2187	4275	6462	SO:0001583	missense	8698				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:3179854T>A	AJ000479	CCDS12105.1	19p13.3	2012-08-08	2008-04-30	2008-04-30		ENSG00000125910		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3170	protein-coding gene	gene with protein product		603751	"""endothelial differentiation, G-protein-coupled receptor 6"", ""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 6"""	EDG6		9790765	Standard	NM_003775		Approved		uc002lxg.3	O95977		ENST00000246115.3:c.1064T>A	19.37:g.3179854T>A	ENSP00000246115:p.Leu355Gln						p.L355Q	NM_003775	NP_003766	O95977	S1PR4_HUMAN			1	1089	+			355			Cytoplasmic (By similarity).		D6W612	Missense_Mutation	SNP	ENST00000246115.3	37	c.1064T>A	CCDS12105.1	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348688	0.24426	.	.	ENSG00000125910	ENST00000246115	D	0.82255	-1.59	3.94	3.94	0.45596	.	0.814560	0.10747	N	0.638762	T	0.76371	0.3978	L	0.27053	0.805	0.09310	N	0.999996	P	0.50528	0.936	P	0.48368	0.575	T	0.63457	-0.6633	10	0.29301	T	0.29	.	7.5811	0.27965	0.1904:0.0:0.0:0.8096	.	355	O95977	S1PR4_HUMAN	Q	355	ENSP00000246115:L355Q	ENSP00000246115:L355Q	L	+	2	0	S1PR4	3130854	1.000000	0.71417	0.991000	0.47740	0.062000	0.15995	1.431000	0.34925	1.669000	0.50854	0.459000	0.35465	CTG		0.682	S1PR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452517.1	NM_003775		30	89	0	0	0	0	30	89				
MUC16	94025	broad.mit.edu	37	19	9073955	9073955	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:9073955C>G	ENST00000397910.4	-	3	13694	c.13491G>C	c.(13489-13491)ttG>ttC	p.L4497F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4499	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTTGTGTTCAACATATCTG	0.453																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(13489-13491)TTG>TTC		mucin 16							135.0	126.0	129.0					19																	9073955		1973	4161	6134	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9073955C>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13491G>C	19.37:g.9073955C>G	ENSP00000381008:p.Leu4497Phe						p.L4497F	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	13695	-			4499			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.13491G>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.662	-0.279637	0.05642	.	.	ENSG00000181143	ENST00000397910	T	0.29397	1.57	2.04	-0.173	0.13322	.	.	.	.	.	T	0.28764	0.0713	L	0.47716	1.5	.	.	.	D	0.59357	0.985	P	0.48921	0.595	T	0.34976	-0.9807	8	0.87932	D	0	.	4.0046	0.09595	0.0:0.5948:0.0:0.4052	.	4497	B5ME49	.	F	4497	ENSP00000381008:L4497F	ENSP00000381008:L4497F	L	-	3	2	MUC16	8934955	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.508000	0.22692	0.011000	0.14865	0.313000	0.20887	TTG		0.453	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		28	76	0	0	0	0	28	76				
ZNF433	163059	broad.mit.edu	37	19	12126659	12126659	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:12126659T>G	ENST00000344980.6	-	4	1193	c.1023A>C	c.(1021-1023)aaA>aaC	p.K341N	CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.K306N|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	341					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TCCCACAATGTTTACATTCAT	0.388																																						uc002msy.1		NA																	0					0						c.(1021-1023)AAA>AAC		zinc finger protein 433							47.0	51.0	50.0					19																	12126659		2133	4274	6407	SO:0001583	missense	163059				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12126659T>G	AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.1023A>C	19.37:g.12126659T>G	ENSP00000339767:p.Lys341Asn					uc002msx.1_Intron|ZNF433_uc002msz.1_Missense_Mutation_p.K306N	p.K341N	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN			4	1194	-			341			C2H2-type 8.		Q86VX3	Missense_Mutation	SNP	ENST00000344980.6	37	c.1023A>C	CCDS45983.1	.	.	.	.	.	.	.	.	.	.	T	13.34	2.209345	0.39003	.	.	ENSG00000197647	ENST00000419886;ENST00000344980	T;T	0.19669	2.13;2.13	0.903	-1.81	0.07882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06005	0.0156	N	0.11892	0.195	0.09310	N	1	P	0.45594	0.862	B	0.33620	0.167	T	0.24083	-1.0170	9	0.07325	T	0.83	.	2.6764	0.05082	0.0:0.2661:0.2661:0.4678	.	341	Q8N7K0	ZN433_HUMAN	N	306;341	ENSP00000393416:K306N;ENSP00000339767:K341N	ENSP00000339767:K341N	K	-	3	2	ZNF433	11987659	0.000000	0.05858	0.003000	0.11579	0.843000	0.47879	-5.397000	0.00125	-0.705000	0.05035	0.254000	0.18369	AAA		0.388	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403716.1	NM_152602		6	58	0	0	0	0	6	58				
ZNF99	7652	broad.mit.edu	37	19	22940586	22940586	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:22940586C>G	ENST00000596209.1	-	4	2215	c.2125G>C	c.(2125-2127)Gaa>Caa	p.E709Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.E618Q|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	709					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCCACATTCTTCACATTTG	0.373																																						uc010xrh.1		NA																	0				ovary(1)|skin(1)	2						c.(1852-1854)GAA>CAA		zinc finger protein 99							42.0	45.0	44.0					19																	22940586		2074	4218	6292	SO:0001583	missense	7652							g.chr19:22940586C>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2125G>C	19.37:g.22940586C>G	ENSP00000472969:p.Glu709Gln						p.E618Q	NM_001080409	NP_001073878					5	1852	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1852G>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	c	0.028	-1.354765	0.01256	.	.	ENSG00000213973	ENST00000397104	T	0.07444	3.19	0.726	-0.713	0.11223	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06416	0.0165	N	0.12182	0.205	0.09310	N	1	P	0.43973	0.823	P	0.48063	0.565	T	0.40961	-0.9535	9	0.33940	T	0.23	.	7.5508	0.27796	0.0:0.73:0.27:0.0	.	618	A8MXY4	ZNF99_HUMAN	Q	618	ENSP00000380293:E618Q	ENSP00000380293:E618Q	E	-	1	0	ZNF99	22732426	0.000000	0.05858	0.000000	0.03702	0.361000	0.29550	-2.128000	0.01314	-0.175000	0.10725	0.400000	0.26472	GAA		0.373	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		16	38	0	0	0	0	16	38				
CEACAM21	90273	broad.mit.edu	37	19	42085740	42085740	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:42085740C>A	ENST00000401445.2	+	3	485	c.459C>A	c.(457-459)agC>agA	p.S153R	CEACAM21_ENST00000407170.2_Missense_Mutation_p.S25R|CEACAM21_ENST00000187608.9_Missense_Mutation_p.S153R|CEACAM21_ENST00000482870.2_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	153	Ig-like C2-type.					integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGCCAGCAGCACCACAGTCA	0.537																																						uc002ore.3		NA																	0				ovary(1)	1						c.(457-459)AGC>AGA		carcinoembryonic antigen-related cell adhesion							61.0	67.0	65.0					19																	42085740		2102	4233	6335	SO:0001583	missense	90273					integral to membrane		g.chr19:42085740C>A	AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062	ENST00000401445.2:c.459C>A	19.37:g.42085740C>A	ENSP00000385739:p.Ser153Arg					CEACAM21_uc002orc.1_RNA|CEACAM21_uc002ord.1_RNA|CEACAM21_uc002orf.2_RNA|CEACAM21_uc002org.3_Missense_Mutation_p.S153R	p.S153R	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN			3	555	+			153			Ig-like C2-type.|Extracellular (Potential).		B7WNQ6|O75296|Q6UY47|Q96ER7	Missense_Mutation	SNP	ENST00000401445.2	37	c.459C>A	CCDS46086.1	.	.	.	.	.	.	.	.	.	.	C	18.34	3.601483	0.66445	.	.	ENSG00000007129	ENST00000407170;ENST00000187608;ENST00000401445	T;T;T	0.38240	1.15;1.15;1.15	3.56	-2.13	0.07144	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.43523	0.1251	L	0.52823	1.66	0.09310	N	1	D;P	0.69078	0.997;0.907	D;P	0.71656	0.974;0.579	T	0.35798	-0.9774	9	0.87932	D	0	.	0.4717	0.00533	0.1933:0.3413:0.1912:0.2741	.	153;153	Q3KPI0-2;Q3KPI0	.;CEA21_HUMAN	R	25;153;153	ENSP00000384380:S25R;ENSP00000187608:S153R;ENSP00000385739:S153R	ENSP00000187608:S153R	S	+	3	2	CEACAM21	46777580	0.000000	0.05858	0.001000	0.08648	0.908000	0.53690	-0.549000	0.06041	-0.104000	0.12154	0.385000	0.25706	AGC		0.537	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321140.1	NM_033543		6	75	1	0	8.13e-05	9.26e-05	6	75				
LILRB4	11006	broad.mit.edu	37	19	55174502	55174502	+	Missense_Mutation	SNP	C	C	T	rs529915221		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr19:55174502C>T	ENST00000391736.1	+	3	332	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LILRB4_ENST00000270452.2_Missense_Mutation_p.T6M|LILRB4_ENST00000430952.2_Missense_Mutation_p.T6M|LILRB4_ENST00000391733.3_Missense_Mutation_p.T6M|LILRB4_ENST00000391734.3_Missense_Mutation_p.T6M	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	6					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCCACCTTCACGGCTCTGCTC	0.602											OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C|||	1	0.000199681	0.0008	0.0	5008	,	,		14754	0.0		0.0	False		,,,				2504	0.0					uc002qgp.2		NA																	0				ovary(3)	3						c.(16-18)ACG>ATG		leukocyte immunoglobulin-like receptor,							52.0	55.0	54.0					19																	55174502		2203	4300	6503	SO:0001583	missense	11006					integral to membrane|plasma membrane	antigen binding|receptor activity	g.chr19:55174502C>T	U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.17C>T	19.37:g.55174502C>T	ENSP00000375616:p.Thr6Met		OREG0003670	type=REGULATORY REGION|Gene=LILRB4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	1005	LILRB4_uc002qgo.1_Missense_Mutation_p.T47M|LILRB4_uc002qgq.2_Missense_Mutation_p.T6M|LILRB4_uc010ers.1_Translation_Start_Site|LILRB4_uc002qgr.2_Missense_Mutation_p.T47M|LILRB4_uc010ert.2_Missense_Mutation_p.T47M|LILRB4_uc010eru.2_Missense_Mutation_p.T47M	p.T6M	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN		GBM - Glioblastoma multiforme(193;0.035)	1	379	+			6					A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	c.17C>T	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	C	7.897	0.733612	0.15574	.	.	ENSG00000186818	ENST00000420271;ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391734;ENST00000391733;ENST00000434286	T;T;T;T;T;T	0.00492	7.08;7.08;7.08;7.05;7.1;7.01	2.87	0.58	0.17402	.	.	.	.	.	T	0.00524	0.0017	L	0.42581	1.335	0.09310	N	1	P;P;P;B;B;D	0.55800	0.788;0.84;0.888;0.224;0.055;0.973	B;B;P;B;B;B	0.47102	0.195;0.115;0.537;0.063;0.028;0.282	T	0.54470	-0.8289	9	0.48119	T	0.1	.	5.5717	0.17200	0.0:0.7087:0.0:0.2913	.	6;6;6;6;6;47	A8MUE1;C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6;C9JHA6	.;.;.;.;LIRB4_HUMAN;.	M	47;6;6;6;6;6;6	ENSP00000375616:T6M;ENSP00000270452:T6M;ENSP00000408995:T6M;ENSP00000375614:T6M;ENSP00000375613:T6M;ENSP00000401962:T6M	ENSP00000270452:T6M	T	+	2	0	LILRB4	59866314	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.440000	0.02412	-0.055000	0.13244	-0.567000	0.04161	ACG		0.602	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3			6	105	0	0	0	0	6	105				
PLCL1	5334	broad.mit.edu	37	2	199011631	199011631	+	Missense_Mutation	SNP	G	G	A	rs201915547		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:199011631G>A	ENST00000428675.1	+	6	3631	c.3233G>A	c.(3232-3234)cGc>cAc	p.R1078H	PLCL1_ENST00000437704.2_Missense_Mutation_p.R980H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1078					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AAGAGCAAGCGCAGCCTGGAA	0.512																																						uc010fsp.2		NA																	0				ovary(1)|skin(1)	2						c.(3232-3234)CGC>CAC		RecName: Full=Inactive phospholipase C-like protein 1;          Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein;          Short=PRIP;	Quinacrine(DB01103)	G	HIS/ARG	0,4406		0,0,2203	82.0	65.0	71.0		3233	5.1	1.0	2		71	1,8599	1.2+/-3.3	0,1,4299	yes	missense	PLCL1	NM_006226.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1078/1096	199011631	1,13005	2203	4300	6503	SO:0001583	missense	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:199011631G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3233G>A	2.37:g.199011631G>A	ENSP00000402861:p.Arg1078His					PLCL1_uc002uuv.3_Missense_Mutation_p.R999H	p.R1078H	NM_001114661	NP_001108133	Q15111	PLCL1_HUMAN			6	3524	+			1078					Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	c.3233G>A	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.494843	0.85069	0.0	1.16E-4	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18810	2.19;2.23	5.97	5.09	0.68999	.	0.000000	0.56097	D	0.000035	T	0.37517	0.1006	L	0.60455	1.87	0.46981	D	0.999275	D;D	0.76494	0.999;0.999	P;P	0.59703	0.862;0.805	T	0.01541	-1.1329	9	.	.	.	.	14.6167	0.68556	0.0694:0.0:0.9306:0.0	.	1078;1004	Q15111;B4DYZ4	PLCL1_HUMAN;.	H	1078;980	ENSP00000402861:R1078H;ENSP00000414138:R980H	.	R	+	2	0	PLCL1	198719876	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.401000	0.73256	2.834000	0.97654	0.650000	0.86243	CGC		0.512	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226		12	31	0	0	0	0	12	31				
FZD7	8324	broad.mit.edu	37	2	202899737	202899737	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:202899737C>T	ENST00000286201.1	+	1	428	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	123	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTGTCGTTCTCTGTGCGAGCG	0.642											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002uyw.1		NA																	0				skin(2)|ovary(1)|breast(1)	4						c.(367-369)CTG>TTG		frizzled 7 precursor							57.0	64.0	61.0					2																	202899737		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899737C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.367C>T	2.37:g.202899737C>T			OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.L123L	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	428	+			123			FZ.|Extracellular (Potential).		O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.367C>T	CCDS2351.1																																																																																				0.642	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		31	65	0	0	0	0	31	65				
C2orf57	165100	broad.mit.edu	37	2	232458286	232458286	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:232458286A>C	ENST00000313965.2	+	1	712	c.624A>C	c.(622-624)gaA>gaC	p.E208D		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	208										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		CTGAAGCTGAAGCTTTACCAT	0.582																																						uc002vrz.2		NA																	0				ovary(1)	1						c.(622-624)GAA>GAC		hypothetical protein LOC165100							148.0	144.0	145.0					2																	232458286		2203	4300	6503	SO:0001583	missense	165100							g.chr2:232458286A>C	BC034405	CCDS2487.1	2q37.1	2008-02-05			ENSG00000177673	ENSG00000177673			28563	protein-coding gene	gene with protein product						12477932	Standard	NM_152614		Approved	MGC35154	uc002vrz.3	Q53QW1	OTTHUMG00000133226	ENST00000313965.2:c.624A>C	2.37:g.232458286A>C	ENSP00000315557:p.Glu208Asp						p.E208D	NM_152614	NP_689827	Q53QW1	CB057_HUMAN		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)	1	675	+		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)	208					Q8N4F2	Missense_Mutation	SNP	ENST00000313965.2	37	c.624A>C	CCDS2487.1	.	.	.	.	.	.	.	.	.	.	a	11.05	1.523682	0.27299	.	.	ENSG00000177673	ENST00000313965	T	0.19250	2.16	3.41	-3.95	0.04118	.	0.709509	0.11619	N	0.545934	T	0.05868	0.0153	N	0.08118	0	0.09310	N	1	B	0.23650	0.089	B	0.18871	0.023	T	0.36504	-0.9745	10	0.08837	T	0.75	.	0.7108	0.00924	0.3137:0.3119:0.2073:0.1671	.	208	Q53QW1	CB057_HUMAN	D	208	ENSP00000315557:E208D	ENSP00000315557:E208D	E	+	3	2	C2orf57	232166530	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.308000	0.08156	-0.785000	0.04522	0.460000	0.39030	GAA		0.582	C2orf57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256962.1	NM_152614		10	117	0	0	0	0	10	117				
ZMYND8	23613	broad.mit.edu	37	20	45875011	45875011	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr20:45875011G>A	ENST00000311275.7	-	14	2218	c.1965C>T	c.(1963-1965)agC>agT	p.S655S	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Silent_p.S655S|ZMYND8_ENST00000458360.2_Silent_p.S650S|ZMYND8_ENST00000471951.2_Silent_p.S675S|ZMYND8_ENST00000536340.1_Silent_p.S682S|ZMYND8_ENST00000262975.4_Silent_p.S655S|ZMYND8_ENST00000446994.2_Silent_p.S592S|ZMYND8_ENST00000360911.3_Silent_p.S650S|ZMYND8_ENST00000352431.2_Silent_p.S675S|ZMYND8_ENST00000540497.1_Silent_p.S603S|ZMYND8_ENST00000372023.3_Silent_p.S650S|ZMYND8_ENST00000461685.1_Silent_p.S675S|ZMYND8_ENST00000396281.4_Silent_p.S655S	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	655					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CTGCCTTCTCGCTGGCTGGTG	0.502																																						uc002xta.1		NA																	0				central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1)	5						c.(1963-1965)AGC>AGT		zinc finger, MYND-type containing 8 isoform b							240.0	226.0	231.0					20																	45875011		2203	4300	6503	SO:0001819	synonymous_variant	23613						protein binding|zinc ion binding	g.chr20:45875011G>A	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1965C>T	20.37:g.45875011G>A						ZMYND8_uc010ghq.1_Silent_p.S332S|ZMYND8_uc010ghr.1_Silent_p.S630S|ZMYND8_uc002xst.1_Silent_p.S583S|ZMYND8_uc002xsu.1_Silent_p.S655S|ZMYND8_uc002xsv.1_Silent_p.S583S|ZMYND8_uc002xsw.1_Silent_p.S407S|ZMYND8_uc002xsx.1_Silent_p.S407S|ZMYND8_uc002xsy.1_Silent_p.S630S|ZMYND8_uc002xsz.1_Silent_p.S592S|ZMYND8_uc010zxy.1_Silent_p.S682S|ZMYND8_uc002xtb.1_Silent_p.S675S|ZMYND8_uc002xss.2_Silent_p.S655S|ZMYND8_uc010zxz.1_Silent_p.S650S|ZMYND8_uc002xtc.1_Silent_p.S675S|ZMYND8_uc002xtd.1_Silent_p.S650S|ZMYND8_uc002xte.1_Silent_p.S655S|ZMYND8_uc010zya.1_Silent_p.S655S|ZMYND8_uc002xtf.1_Silent_p.S675S|ZMYND8_uc002xtg.2_Silent_p.S649S|ZMYND8_uc010ghs.1_Silent_p.S649S	p.S655S	NM_012408	NP_036540	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2219	-			655					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Silent	SNP	ENST00000311275.7	37	c.1965C>T		.	.	.	.	.	.	.	.	.	.	G	0.060	-1.226993	0.01518	.	.	ENSG00000101040	ENST00000467200	.	.	.	5.91	-7.65	0.01281	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.8522	5.3532	0.16047	0.5189:0.2687:0.1326:0.0798	.	.	.	.	X	583	.	.	R	-	1	2	ZMYND8	45308418	0.000000	0.05858	0.005000	0.12908	0.033000	0.12548	-1.522000	0.02237	-0.985000	0.03503	0.655000	0.94253	CGA		0.502	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		39	194	0	0	0	0	39	194				
GART	2618	broad.mit.edu	37	21	34897183	34897183	+	Missense_Mutation	SNP	T	T	C	rs372824278		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr21:34897183T>C	ENST00000381831.3	-	11	1454	c.1191A>G	c.(1189-1191)atA>atG	p.I397M	GART_ENST00000381839.3_Missense_Mutation_p.I397M|GART_ENST00000543717.1_5'Flank|GART_ENST00000381815.4_Missense_Mutation_p.I397M|GART_ENST00000361093.5_Missense_Mutation_p.I397M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	397					'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CAAGGGCTGATATGAGATTTT	0.488																																						uc002yrx.2		NA																	0				ovary(1)	1						c.(1189-1191)ATA>ATG		phosphoribosylglycinamide formyltransferase,	Pemetrexed(DB00642)	T	MET/ILE,MET/ILE,MET/ILE,MET/ILE	0,4406		0,0,2203	139.0	127.0	131.0		1191,1191,1191,1191	-6.7	0.0	21		131	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	GART	NM_000819.4,NM_001136005.1,NM_001136006.1,NM_175085.2	10,10,10,10	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign,benign,benign,benign	397/1011,397/1011,397/1011,397/434	34897183	1,13005	2203	4300	6503	SO:0001583	missense	2618				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding	g.chr21:34897183T>C	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.1191A>G	21.37:g.34897183T>C	ENSP00000371253:p.Ile397Met					GART_uc002yrz.2_Missense_Mutation_p.I397M|GART_uc010gmd.2_Missense_Mutation_p.I59M|GART_uc002yry.2_Missense_Mutation_p.I397M|GART_uc002ysa.2_Missense_Mutation_p.I397M	p.I397M	NM_000819	NP_000810	P22102	PUR2_HUMAN			11	1326	-			397					A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	ENST00000381831.3	37	c.1191A>G	CCDS13627.1	.	.	.	.	.	.	.	.	.	.	T	7.920	0.738301	0.15574	0.0	1.16E-4	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	6.03	-6.73	0.01749	Rudiment single hybrid motif (1);Phosphoribosylglycinamide synthetase, C-domain (2);	0.944989	0.09100	N	0.848599	T	0.17023	0.0409	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.15809	-1.0424	10	0.33940	T	0.23	4.8938	4.5089	0.11901	0.1433:0.3251:0.378:0.1536	.	397	P22102	PUR2_HUMAN	M	397	ENSP00000371236:I397M;ENSP00000371253:I397M;ENSP00000371261:I397M;ENSP00000354388:I397M	ENSP00000354388:I397M	I	-	3	3	GART	33819053	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	0.678000	0.25277	-1.208000	0.02634	-0.472000	0.04984	ATA		0.488	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		34	70	0	0	0	0	34	70				
LARGE	9215	broad.mit.edu	37	22	33780226	33780226	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr22:33780226G>A	ENST00000354992.2	-	9	1528	c.957C>T	c.(955-957)acC>acT	p.T319T	LARGE_ENST00000452586.2_Silent_p.T118T|LARGE_ENST00000397394.2_Silent_p.T319T|LARGE_ENST00000437602.2_Silent_p.T319T|LARGE_ENST00000337431.2_Silent_p.T319T|LARGE_ENST00000402320.1_Silent_p.T319T	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	319					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCCTCTCTGCGGTCAGCCTCC	0.512																																					Colon(70;397 1175 4573 19089 45288)	uc003and.3		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(955-957)ACC>ACT		like-glycosyltransferase							150.0	124.0	133.0					22																	33780226		2203	4300	6503	SO:0001819	synonymous_variant	9215				glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	g.chr22:33780226G>A	AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.957C>T	22.37:g.33780226G>A						LARGE_uc011amd.1_Silent_p.T118T|LARGE_uc003ane.3_Silent_p.T319T|LARGE_uc010gwp.2_Silent_p.T319T|LARGE_uc011ame.1_Silent_p.T251T|LARGE_uc011amf.1_Silent_p.T319T|LARGE_uc010gwq.1_RNA	p.T319T	NM_004737	NP_004728	O95461	LARGE_HUMAN			9	1536	-		Lung NSC(1;0.219)	319			Lumenal (Potential).		B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Silent	SNP	ENST00000354992.2	37	c.957C>T	CCDS13912.1																																																																																				0.512	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320515.2	NM_133642		6	152	0	0	0	0	6	152				
POMGNT2	84892	broad.mit.edu	37	3	43122688	43122688	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:43122688C>G	ENST00000344697.2	-	2	581	c.236G>C	c.(235-237)tGc>tCc	p.C79S	POMGNT2_ENST00000441964.1_Missense_Mutation_p.C79S	NM_032806.5	NP_116195.2	Q8NAT1	PMGT2_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)	79					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein O-GlcNAc transferase activity (GO:0097363)										CTTGAAGCGGCAGATGCGGTC	0.617																																						uc003cmq.1		NA																	0				ovary(1)|skin(1)	2						c.(235-237)TGC>TCC		glycosyltransferase precursor							84.0	76.0	79.0					3																	43122688		2203	4300	6503	SO:0001583	missense	84892					extracellular region	transferase activity, transferring glycosyl groups	g.chr3:43122688C>G	AK092147	CCDS2709.1	3p22.1	2014-07-15	2013-08-22	2013-08-22	ENSG00000144647	ENSG00000144647			25902	protein-coding gene	gene with protein product		614828	"""chromosome 3 open reading frame 39"", ""glycosyltransferase-like domain containing 2"""	C3orf39, GTDC2		12477932	Standard	NM_032806		Approved	FLJ14566, AGO61	uc003cmr.2	Q8NAT1	OTTHUMG00000133038	ENST00000344697.2:c.236G>C	3.37:g.43122688C>G	ENSP00000344125:p.Cys79Ser					C3orf39_uc003cmr.1_Missense_Mutation_p.C79S	p.C79S	NM_032806	NP_116195	Q8NAT1	AGO61_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718)	2	377	-			79					B3KWC3|Q96SY3	Missense_Mutation	SNP	ENST00000344697.2	37	c.236G>C	CCDS2709.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122076	0.77436	.	.	ENSG00000144647	ENST00000441964;ENST00000344697	D;D	0.90955	-2.76;-2.76	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.95245	0.8458	M	0.75264	2.295	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	D	0.95146	0.8268	10	0.66056	D	0.02	-16.6305	18.9302	0.92561	0.0:1.0:0.0:0.0	.	79	Q8NAT1	AGO61_HUMAN	S	79	ENSP00000408992:C79S;ENSP00000344125:C79S	ENSP00000344125:C79S	C	-	2	0	C3orf39	43097692	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.714000	0.92807	0.561000	0.74099	TGC		0.617	POMGNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256643.1	NM_032806		13	32	0	0	0	0	13	32				
ARL13B	200894	broad.mit.edu	37	3	93769695	93769695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:93769695G>A	ENST00000394222.3	+	9	1444	c.1169G>A	c.(1168-1170)aGa>aAa	p.R390K	ARL13B_ENST00000539730.1_Missense_Mutation_p.R111K|DHFRL1_ENST00000481631.1_Intron|ARL13B_ENST00000535334.1_Missense_Mutation_p.R287K|ARL13B_ENST00000471138.1_Missense_Mutation_p.R390K|ARL13B_ENST00000303097.7_Missense_Mutation_p.R283K	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	390	Pro-rich.		R -> L (in a nephronophthisis (NPHP) patient). {ECO:0000269|PubMed:21068128}.		cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						AAAGTCACTAGACTTCCAAAA	0.368																																						uc003drc.2		NA																	0					0						c.(1168-1170)AGA>AAA		ADP-ribosylation factor-like 2-like 1 isoform 1							89.0	89.0	89.0					3																	93769695		2203	4300	6503	SO:0001583	missense	200894						GTP binding	g.chr3:93769695G>A	AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.1169G>A	3.37:g.93769695G>A	ENSP00000377769:p.Arg390Lys					ARL13B_uc010hop.2_Missense_Mutation_p.R241K|ARL13B_uc003drd.2_Missense_Mutation_p.R283K|ARL13B_uc003dre.2_Missense_Mutation_p.R375K|ARL13B_uc003drf.2_Missense_Mutation_p.R390K|ARL13B_uc003drg.2_Missense_Mutation_p.R287K	p.R390K	NM_182896	NP_878899	Q3SXY8	AR13B_HUMAN			9	1455	+			390			Pro-rich.		D3DN29|G3V1S8|Q504W8|Q8TCL5	Missense_Mutation	SNP	ENST00000394222.3	37	c.1169G>A	CCDS2925.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712053	0.89112	.	.	ENSG00000169379	ENST00000535334;ENST00000303097;ENST00000394222;ENST00000471138;ENST00000539730	T;T;T;T;T	0.68903	1.46;-0.36;-0.08;-0.08;0.61	5.47	5.47	0.80525	.	0.046228	0.85682	D	0.000000	T	0.81264	0.4786	M	0.70275	2.135	0.80722	D	1	D;D;D;D	0.89917	0.995;0.967;1.0;0.967	P;P;D;P	0.83275	0.827;0.527;0.996;0.527	T	0.80065	-0.1538	10	0.40728	T	0.16	-19.4594	18.0865	0.89458	0.0:0.0:1.0:0.0	.	287;390;283;390	G3V1S8;B4DLH1;Q3SXY8-2;Q3SXY8	.;.;.;AR13B_HUMAN	K	287;283;390;390;111	ENSP00000445145:R287K;ENSP00000306225:R283K;ENSP00000377769:R390K;ENSP00000420780:R390K;ENSP00000437977:R111K	ENSP00000306225:R283K	R	+	2	0	ARL13B	95252385	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.100000	0.76989	2.583000	0.87209	0.655000	0.94253	AGA		0.368	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352904.1	NM_182896		13	43	0	0	0	0	13	43				
UROC1	131669	broad.mit.edu	37	3	126224562	126224562	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:126224562G>A	ENST00000290868.2	-	8	848	c.795C>T	c.(793-795)tgC>tgT	p.C265C	UROC1_ENST00000383579.3_Silent_p.C265C	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	265					cellular nitrogen compound metabolic process (GO:0034641)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	urocanate hydratase activity (GO:0016153)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TCACACCGATGCACCCCACGA	0.642																																						uc003eiz.1		NA																	0				ovary(1)	1						c.(793-795)TGC>TGT		urocanase domain containing 1 isoform 1							69.0	60.0	63.0					3																	126224562		2203	4300	6503	SO:0001819	synonymous_variant	131669				histidine catabolic process	cytosol	urocanate hydratase activity	g.chr3:126224562G>A	AK055862	CCDS3038.1, CCDS54636.1	3q21.2	2012-08-21	2012-08-21		ENSG00000159650	ENSG00000159650	4.2.1.49		26444	protein-coding gene	gene with protein product	"""urocanase 1"""	613012	"""urocanase domain containing 1"""			19304569	Standard	NM_144639		Approved	FLJ31300, HMFN0320	uc010hsi.2	Q96N76	OTTHUMG00000162753	ENST00000290868.2:c.795C>T	3.37:g.126224562G>A						UROC1_uc010hsi.1_Silent_p.C265C	p.C265C	NM_144639	NP_653240	Q96N76	HUTU_HUMAN		GBM - Glioblastoma multiforme(114;0.17)	8	827	-			265					E9PE13|Q14C64|Q68CJ7	Silent	SNP	ENST00000290868.2	37	c.795C>T	CCDS3038.1																																																																																				0.642	UROC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370325.2	NM_144639		15	37	0	0	0	0	15	37				
MED12L	116931	broad.mit.edu	37	3	150908705	150908705	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:150908705A>T	ENST00000474524.1	+	13	1993	c.1955A>T	c.(1954-1956)gAt>gTt	p.D652V	MED12L_ENST00000309237.4_Missense_Mutation_p.D652V|RNA5SP145_ENST00000363124.1_RNA|MED12L_ENST00000422248.2_Missense_Mutation_p.D652V|MED12L_ENST00000273432.4_Missense_Mutation_p.D512V	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	652						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AAGGACCATGATGTGAAAATG	0.483																																						uc003eyp.2		NA																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(1954-1956)GAT>GTT		mediator of RNA polymerase II transcription,							78.0	70.0	73.0					3																	150908705		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150908705A>T	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1955A>T	3.37:g.150908705A>T	ENSP00000417235:p.Asp652Val					MED12L_uc011bnz.1_Missense_Mutation_p.D512V|MED12L_uc003eyn.2_Missense_Mutation_p.D652V|MED12L_uc003eyo.2_Missense_Mutation_p.D652V	p.D652V	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		13	1993	+			652					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.1955A>T	CCDS33876.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.97|16.97	3.269123|3.269123	0.59540|0.59540	.|.	.|.	ENSG00000144893|ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432|ENST00000480026	T;T;T;T|.	0.29655|.	1.56;1.56;1.56;1.56|.	5.35|5.35	4.19|4.19	0.49359|0.49359	Mediator complex, subunit Med12, LCEWAV-domain (1);|.	0.162920|.	0.53938|.	D|.	0.000052|.	T|.	0.60064|.	0.2240|.	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;P;P;P|.	0.36909|.	0.266;0.57;0.514;0.573|.	B;B;B;B|.	0.43052|.	0.144;0.406;0.284;0.122|.	T|.	0.58601|.	-0.7608|.	10|.	0.87932|.	D|.	0|.	-13.2235|-13.2235	8.0574|8.0574	0.30612|0.30612	0.8454:0.0:0.1546:0.0|0.8454:0.0:0.1546:0.0	.|.	512;652;652;652|.	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3|.	.;MD12L_HUMAN;.;.|.	V|C	652;652;652;512|1	ENSP00000403308:D652V;ENSP00000310760:D652V;ENSP00000417235:D652V;ENSP00000273432:D512V|.	ENSP00000273432:D512V|.	D|X	+|+	2|3	0|0	MED12L|MED12L	152391395|152391395	0.998000|0.998000	0.40836|0.40836	0.259000|0.259000	0.24435|0.24435	0.904000|0.904000	0.53231|0.53231	3.779000|3.779000	0.55379|0.55379	2.155000|2.155000	0.67459|0.67459	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.483	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		11	35	0	0	0	0	11	35				
PLD1	5337	broad.mit.edu	37	3	171394576	171394576	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:171394576C>T	ENST00000351298.4	-	18	2170	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PLD1_ENST00000340989.4_Missense_Mutation_p.A682T|PLD1_ENST00000342215.6_Silent_p.L572L|PLD1_ENST00000356327.5_Missense_Mutation_p.A644T	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	682	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCAGAGGCAATGTCATGC	0.527																																					NSCLC(149;2174 3517 34058)	uc003fhs.2		NA																	0				ovary(2)|lung(1)	3						c.(2044-2046)GCC>ACC		phospholipase D1 isoform a	Choline(DB00122)						82.0	72.0	75.0					3																	171394576		2203	4300	6503	SO:0001583	missense	5337				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	g.chr3:171394576C>T	U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2044G>A	3.37:g.171394576C>T	ENSP00000342793:p.Ala682Thr					PLD1_uc003fht.2_Missense_Mutation_p.A644T|PLD1_uc003fhu.3_5'Flank|PLD1_uc003fhv.1_Missense_Mutation_p.A7T	p.A682T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		18	2160	-	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		682			Catalytic.			Missense_Mutation	SNP	ENST00000351298.4	37	c.2044G>A	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	C	18.49	3.636191	0.67130	.	.	ENSG00000075651	ENST00000356327;ENST00000351298;ENST00000340989	T;T;T	0.24151	1.87;1.87;1.87	5.81	5.81	0.92471	.	0.287401	0.38111	N	0.001804	T	0.33381	0.0861	M	0.66439	2.03	0.80722	D	1	B;B;B	0.30281	0.12;0.073;0.275	B;B;B	0.34489	0.127;0.097;0.184	T	0.06917	-1.0800	10	0.52906	T	0.07	-5.1362	15.7515	0.77989	0.1446:0.8554:0.0:0.0	.	644;667;682	Q13393-2;Q59EA4;Q13393	.;.;PLD1_HUMAN	T	644;682;682	ENSP00000348681:A644T;ENSP00000342793:A682T;ENSP00000340326:A682T	ENSP00000340326:A682T	A	-	1	0	PLD1	172877270	0.982000	0.34865	0.976000	0.42696	0.845000	0.48019	2.032000	0.41127	2.752000	0.94435	0.557000	0.71058	GCC		0.527	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2	NM_002662		13	78	0	0	0	0	13	78				
LRRC15	131578	broad.mit.edu	37	3	194081302	194081302	+	Silent	SNP	G	G	A	rs143343570	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:194081302G>A	ENST00000347624.3	-	2	556	c.471C>T	c.(469-471)caC>caT	p.H157H	LRRC15_ENST00000428839.1_Silent_p.H163H|LRRC15_ENST00000439944.2_Silent_p.H163H	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	157					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGTGGTTGCCGTGCAACTGCA	0.572													g|||	3	0.000599042	0.0023	0.0	5008	,	,		19069	0.0		0.0	False		,,,				2504	0.0					uc003ftu.2		NA																	0				ovary(3)	3						c.(469-471)CAC>CAT		leucine rich repeat containing 15 isoform b		A	,	6,4400	11.4+/-27.6	0,6,2197	139.0	136.0	137.0		489,471	-9.2	0.7	3	dbSNP_134	137	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LRRC15	NM_001135057.2,NM_130830.4	,	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	,	163/588,157/582	194081302	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	131578					integral to membrane		g.chr3:194081302G>A	AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.471C>T	3.37:g.194081302G>A						LRRC15_uc003ftt.2_Silent_p.H163H	p.H157H	NM_130830	NP_570843	Q8TF66	LRC15_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)	2	557	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		157			Extracellular (Potential).|LRR 5.		Q495Q6|Q7RTN7	Silent	SNP	ENST00000347624.3	37	c.471C>T	CCDS3306.1																																																																																				0.572	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342858.2			31	251	0	0	0	0	31	251				
MAP9	79884	broad.mit.edu	37	4	156274418	156274418	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:156274418C>A	ENST00000311277.4	-	11	1718	c.1455G>T	c.(1453-1455)aaG>aaT	p.K485N	AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608406.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.K461N|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000599555.2_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000595229.1_RNA|AC097467.2_ENST00000608463.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	485					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		CAGCTATTTTCTTTGCTTCCT	0.353																																						uc003ios.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1453-1455)AAG>AAT		aster-associated protein							94.0	90.0	92.0					4																	156274418		2203	4298	6501	SO:0001583	missense	79884				cell division|mitosis	cytoplasm|microtubule|spindle		g.chr4:156274418C>A	AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1455G>T	4.37:g.156274418C>A	ENSP00000310593:p.Lys485Asn					MAP9_uc011cin.1_Missense_Mutation_p.K460N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K484N	p.K485N	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN		COAD - Colon adenocarcinoma(41;0.143)	11	1719	-	all_hematologic(180;0.24)	Renal(120;0.0458)	485			Potential.		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	ENST00000311277.4	37	c.1455G>T	CCDS35493.1	.	.	.	.	.	.	.	.	.	.	C	19.69	3.874658	0.72180	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.10288	2.89;2.89;2.89	5.37	5.37	0.77165	.	0.377797	0.31760	N	0.007104	T	0.25195	0.0612	L	0.60455	1.87	0.80722	D	1	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.56563	0.801;0.801;0.747	T	0.00155	-1.1980	10	0.87932	D	0	-9.2884	16.1819	0.81915	0.0:1.0:0.0:0.0	.	460;485;485	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	N	485;461;484	ENSP00000310593:K485N;ENSP00000427402:K461N;ENSP00000394048:K484N	ENSP00000310593:K485N	K	-	3	2	MAP9	156493868	0.998000	0.40836	0.922000	0.36590	0.884000	0.51177	1.041000	0.30291	2.670000	0.90874	0.655000	0.94253	AAG		0.353	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3	NM_001039580		10	53	1	0	1.77e-08	2.12e-08	10	53				
MROH2B	133558	broad.mit.edu	37	5	41065470	41065470	+	Silent	SNP	G	G	A	rs371986783		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:41065470G>A	ENST00000399564.4	-	4	774	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	108								p.F108F(1)									CAAGCACAACGAATTCATCTG	0.418																																						uc003jmj.3		NA																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(6)|central_nervous_system(2)	8						c.(322-324)TTC>TTT		HEAT repeat family member 7B2		G		1,3813		0,1,1906	73.0	68.0	70.0		324	-12.3	0.0	5		70	0,8252		0,0,4126	no	coding-synonymous	HEATR7B2	NM_173489.4		0,1,6032	AA,AG,GG		0.0,0.0262,0.0083		108/1586	41065470	1,12065	1907	4126	6033	SO:0001819	synonymous_variant	133558						binding	g.chr5:41065470G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.324C>T	5.37:g.41065470G>A							p.F108F	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			4	814	-			108					Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	ENST00000399564.4	37	c.324C>T	CCDS47202.1																																																																																				0.418	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		12	18	0	0	0	0	12	18				
APC	324	broad.mit.edu	37	5	112173816	112173816	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:112173816A>T	ENST00000457016.1	+	16	2905	c.2525A>T	c.(2524-2526)gAt>gTt	p.D842V	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.D842V|APC_ENST00000257430.4_Missense_Mutation_p.D842V			P25054	APC_HUMAN	adenomatous polyposis coli	842	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGAAGCTTAGATAGTTCTCGT	0.403		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc010jby.2		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	D|Mis|N|F|S	adenomatous polyposis of the colon gene			"""E, M, O"""		colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS	colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS		1	Unknown(1)	p.?(1)	skin(1)	large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1)	2515						c.(2524-2526)GAT>GTT		adenomatous polyposis coli							59.0	61.0	61.0					5																	112173816		2202	4300	6502	SO:0001583	missense	324	Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112173816A>T	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2525A>T	5.37:g.112173816A>T	ENSP00000413133:p.Asp842Val	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.D824V|APC_uc003kpz.3_Missense_Mutation_p.D842V|APC_uc003kpy.3_Missense_Mutation_p.D842V|APC_uc010jbz.2_Missense_Mutation_p.D559V|APC_uc010jca.2_Missense_Mutation_p.D142V	p.D842V	NM_001127511	NP_001120983	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	2905	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	842			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.2525A>T	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.234985	0.39498	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93307	-2.48;-3.2;-2.48;-2.48;-2.66	6.16	6.16	0.99307	.	0.124256	0.56097	D	0.000034	D	0.86083	0.5848	N	0.08118	0	0.80722	D	1	P;B	0.37914	0.611;0.418	B;B	0.34180	0.135;0.177	D	0.87607	0.2501	10	0.54805	T	0.06	-16.2515	16.8061	0.85666	1.0:0.0:0.0:0.0	.	844;842	Q4LE70;P25054	.;APC_HUMAN	V	842;824;842;842;842	ENSP00000413133:D842V;ENSP00000423224:D824V;ENSP00000257430:D842V;ENSP00000427089:D842V;ENSP00000423828:D842V	ENSP00000257430:D842V	D	+	2	0	APC	112201715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.105000	0.77031	2.367000	0.80283	0.528000	0.53228	GAT		0.403	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		17	43	0	0	0	0	17	43				
RAD50	10111	broad.mit.edu	37	5	131911505	131911505	+	Silent	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:131911505C>T	ENST00000265335.6	+	3	637	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	84					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGATTCGTCTGCAATTTCG	0.378								Homologous recombination																														uc003kxi.2		NA																	0				lung(2)|ovary(1)|skin(1)	4						c.(250-252)CTG>TTG	Homologous_recombination	RAD50 homolog isoform 1							113.0	101.0	105.0					5																	131911505		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131911505C>T	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.250C>T	5.37:g.131911505C>T						RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR	p.L84L	NM_005732	NP_005723	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		3	637	+		all_cancers(142;0.0368)|Breast(839;0.198)	84					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.250C>T	CCDS34233.1																																																																																				0.378	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		12	46	0	0	0	0	12	46				
PPP2R2B	5521	broad.mit.edu	37	5	146077680	146077680	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:146077680C>T	ENST00000394413.3	-	3	766	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	PPP2R2B_ENST00000453001.1_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.E66K|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.E132K|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.E55K|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.E66K|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.E72K|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.E124K|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.E69K			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	66					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATTGTATTCACCCCTACGA	0.373																																						uc003loe.2		NA																	0				ovary(1)|prostate(1)	2						c.(196-198)GAA>AAA		beta isoform of regulatory subunit B55, protein							118.0	125.0	122.0					5																	146077680		2203	4300	6503	SO:0001583	missense	5521				apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr5:146077680C>T	M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.196G>A	5.37:g.146077680C>T	ENSP00000377935:p.Glu66Lys					PPP2R2B_uc010jgm.2_Missense_Mutation_p.E55K|PPP2R2B_uc003log.3_Missense_Mutation_p.E66K|PPP2R2B_uc003lof.3_Missense_Mutation_p.E66K|PPP2R2B_uc003loi.3_Missense_Mutation_p.E69K|PPP2R2B_uc003loh.3_Missense_Mutation_p.E66K|PPP2R2B_uc003loj.3_Missense_Mutation_p.E46K|PPP2R2B_uc003lok.3_Missense_Mutation_p.E55K|PPP2R2B_uc011dbu.1_Missense_Mutation_p.E72K|PPP2R2B_uc011dbv.1_Missense_Mutation_p.E124K	p.E66K	NM_004576	NP_004567	Q00005	2ABB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		3	721	-			66					A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	c.196G>A	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	C	32	5.147987	0.94603	.	.	ENSG00000156475	ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409;ENST00000508267	T;T;T;T;T;T;T;T;T;T;T	0.70164	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;-0.46	5.74	5.74	0.90152	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.93594	3.435	0.80722	D	1	P;P;P;P;P;P	0.50943	0.474;0.474;0.474;0.547;0.94;0.474	B;B;B;B;P;B	0.48770	0.246;0.246;0.246;0.191;0.589;0.246	D	0.86586	0.1857	10	0.87932	D	0	-0.1022	20.2825	0.98528	0.0:1.0:0.0:0.0	.	124;72;55;132;69;66	Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.;.;.;.;.;2ABB_HUMAN	K	66;55;132;66;66;66;55;69;72;124;46	ENSP00000377935:E66K;ENSP00000431320:E55K;ENSP00000377936:E132K;ENSP00000377933:E66K;ENSP00000349283:E66K;ENSP00000398779:E66K;ENSP00000377932:E55K;ENSP00000336591:E69K;ENSP00000421396:E72K;ENSP00000377931:E124K;ENSP00000421224:E46K	ENSP00000336591:E69K	E	-	1	0	AC011357.1	146057873	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.747000	0.85070	2.873000	0.98535	0.561000	0.74099	GAA		0.373	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678		33	52	0	0	0	0	33	52				
WWC1	23286	broad.mit.edu	37	5	167812359	167812359	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr5:167812359C>T	ENST00000265293.4	+	3	875	c.373C>T	c.(373-375)Cag>Tag	p.Q125*	WWC1_ENST00000521089.1_Nonsense_Mutation_p.Q125*	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	125					cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGAGCTTGCACAGCAGGAGTA	0.587																																						uc003lzu.2		NA																	0				ovary(2)|skin(2)|breast(1)	5						c.(373-375)CAG>TAG		WW and C2 domain containing 1 isoform 3							89.0	90.0	90.0					5																	167812359		2203	4300	6503	SO:0001587	stop_gained	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167812359C>T	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.373C>T	5.37:g.167812359C>T	ENSP00000265293:p.Gln125*					WWC1_uc003lzv.2_Nonsense_Mutation_p.Q125*|WWC1_uc011den.1_Nonsense_Mutation_p.Q125*	p.Q125*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	3	466	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	125			Potential.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Nonsense_Mutation	SNP	ENST00000265293.4	37	c.373C>T	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.052486|6.052486	0.97236|0.97236	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	.|.	.|.	.|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000007|.	.|T	.|0.79587	.|0.4471	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77795	.|-0.2454	.|3	0.54805|.	T|.	0.06|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|I	125|86	.|.	ENSP00000265293:Q125X|.	Q|T	+|+	1|2	0|0	WWC1|WWC1	167744937|167744937	1.000000|1.000000	0.71417|0.71417	0.960000|0.960000	0.40013|0.40013	0.974000|0.974000	0.67602|0.67602	7.592000|7.592000	0.82676|0.82676	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	CAG|ACA		0.587	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238		16	31	0	0	0	0	16	31				
HIST1H4E	8367	broad.mit.edu	37	6	26205057	26205057	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:26205057T>G	ENST00000360441.4	+	1	200	c.185T>G	c.(184-186)tTt>tGt	p.F62C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	62					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				CTGAAGGTGTTTCTGGAAAAC	0.567																																						uc003ngy.2		NA																	0				ovary(1)	1						c.(184-186)TTT>TGT		histone cluster 1, H4e							128.0	117.0	121.0					6																	26205057		2203	4300	6503	SO:0001583	missense	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26205057T>G	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.185T>G	6.37:g.26205057T>G	ENSP00000353624:p.Phe62Cys						p.F62C	NM_003545	NP_003536	P62805	H4_HUMAN			1	185	+		all_hematologic(11;0.196)	62					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000360441.4	37	c.185T>G	CCDS4593.1	.	.	.	.	.	.	.	.	.	.	.	14.05	2.419983	0.42918	.	.	ENSG00000198518	ENST00000360441	T	0.70399	-0.48	2.2	2.2	0.27929	.	0.000000	0.85682	U	0.000000	T	0.68348	0.2991	.	.	.	0.58432	D	0.999993	.	.	.	.	.	.	T	0.72833	-0.4173	7	0.87932	D	0	.	9.8663	0.41145	0.0:0.0:0.0:1.0	.	.	.	.	C	62	ENSP00000353624:F62C	ENSP00000353624:F62C	F	+	2	0	HIST1H4E	26313036	1.000000	0.71417	0.617000	0.29091	0.008000	0.06430	7.509000	0.81698	1.246000	0.43901	0.533000	0.62120	TTT		0.567	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	NM_003545		13	88	0	0	0	0	13	88				
VWA7	80737	broad.mit.edu	37	6	31743155	31743155	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:31743155G>T	ENST00000375688.4	-	4	765	c.565C>A	c.(565-567)Cct>Act	p.P189T	VWA7_ENST00000447450.1_Missense_Mutation_p.P189T|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Missense_Mutation_p.P189T			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	189						extracellular region (GO:0005576)											AGGAGGTGAGGGTGTGGCTGC	0.612																																						uc011dog.1		NA																	0				ovary(3)	3						c.(565-567)CCT>ACT		G7c protein precursor							92.0	62.0	73.0					6																	31743155		1509	2709	4218	SO:0001583	missense	80737					extracellular region		g.chr6:31743155G>T		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.565C>A	6.37:g.31743155G>T	ENSP00000364840:p.Pro189Thr					C6orf27_uc003nxd.2_5'UTR|C6orf27_uc011doh.1_RNA	p.P189T	NM_025258	NP_079534	Q9Y334	G7C_HUMAN			4	803	-			189					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.565C>A	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777851	0.49786	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.29142	2.79;2.57;1.58	5.67	3.9	0.45041	.	0.381325	0.29369	N	0.012359	T	0.09069	0.0224	L	0.31664	0.95	0.28610	N	0.908708	P	0.38827	0.649	B	0.40940	0.344	T	0.19976	-1.0289	10	0.18710	T	0.47	-7.0064	8.5762	0.33601	0.176:0.0:0.824:0.0	.	189	Q9Y334	G7C_HUMAN	T	189	ENSP00000364840:P189T;ENSP00000364838:P189T;ENSP00000390554:P189T	ENSP00000364838:P189T	P	-	1	0	C6orf27	31851134	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.075000	0.50073	0.757000	0.33036	0.561000	0.74099	CCT		0.612	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		18	31	1	0	5.35e-07	6.35e-07	18	31				
FAM83B	222584	broad.mit.edu	37	6	54804590	54804590	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:54804590G>A	ENST00000306858.7	+	5	937	c.821G>A	c.(820-822)aGa>aAa	p.R274K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	274										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GAAGAATTTAGAACTCTCTAT	0.423																																						uc003pck.2		NA																	0				ovary(6)	6						c.(820-822)AGA>AAA		hypothetical protein LOC222584							100.0	99.0	100.0					6																	54804590		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54804590G>A	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.821G>A	6.37:g.54804590G>A	ENSP00000304078:p.Arg274Lys						p.R274K	NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN			5	937	+	Lung NSC(77;0.0178)|Renal(3;0.122)		274					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.821G>A	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093199	0.76756	.	.	ENSG00000168143	ENST00000306858	T	0.14766	2.48	5.42	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.21801	0.0525	M	0.88241	2.94	0.43187	D	0.995015	P	0.49783	0.928	P	0.48063	0.565	T	0.26677	-1.0096	10	0.72032	D	0.01	-16.5688	16.5479	0.84454	0.0:0.1308:0.8692:0.0	.	274	Q5T0W9	FA83B_HUMAN	K	274	ENSP00000304078:R274K	ENSP00000304078:R274K	R	+	2	0	FAM83B	54912549	1.000000	0.71417	0.998000	0.56505	0.932000	0.56968	7.598000	0.82745	1.401000	0.46761	0.591000	0.81541	AGA		0.423	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		11	60	0	0	0	0	11	60				
MDN1	23195	broad.mit.edu	37	6	90497660	90497660	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:90497660G>A	ENST00000369393.3	-	8	1362	c.1247C>T	c.(1246-1248)cCt>cTt	p.P416L	MDN1_ENST00000428876.1_Missense_Mutation_p.P416L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	416					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTCCAAGAGAGGGATCAGCAC	0.408																																						uc003pnn.1		NA																	0				ovary(8)|skin(2)	10						c.(1246-1248)CCT>CTT		MDN1, midasin homolog							89.0	83.0	85.0					6																	90497660		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90497660G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1247C>T	6.37:g.90497660G>A	ENSP00000358400:p.Pro416Leu					MDN1_uc003pno.1_5'Flank|MDN1_uc003pnp.1_Missense_Mutation_p.P416L	p.P416L	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	8	1363	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	416					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.1247C>T	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788785	0.70337	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.42900	0.96;0.96	5.65	5.65	0.86999	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.000000	0.85682	D	0.000000	T	0.70509	0.3232	M	0.92268	3.29	0.80722	D	1	D;D	0.76494	0.999;0.984	D;D	0.72625	0.978;0.958	T	0.76836	-0.2812	10	0.72032	D	0.01	.	20.0822	0.97779	0.0:0.0:1.0:0.0	.	416;416	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	L	416	ENSP00000358400:P416L;ENSP00000413970:P416L	ENSP00000358400:P416L	P	-	2	0	MDN1	90554381	1.000000	0.71417	0.998000	0.56505	0.893000	0.52053	9.055000	0.93873	2.826000	0.97356	0.563000	0.77884	CCT		0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			25	36	0	0	0	0	25	36				
MIOS	54468	broad.mit.edu	37	7	7636027	7636027	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:7636027G>A	ENST00000340080.4	+	11	2757	c.2336G>A	c.(2335-2337)cGa>cAa	p.R779Q	MIOS_ENST00000405785.1_Missense_Mutation_p.R779Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	779						lysosomal membrane (GO:0005765)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGGCTGTCGAAAACCACTT	0.428																																						uc003srf.2		NA																	0					0						c.(2335-2337)CGA>CAA		missing oocyte, meiosis regulator, homolog							183.0	176.0	178.0					7																	7636027		1979	4150	6129	SO:0001583	missense	54468							g.chr7:7636027G>A		CCDS43554.1	7p21.3	2011-09-12			ENSG00000164654	ENSG00000164654			21905	protein-coding gene	gene with protein product	"""WD repeat-containing protein mio"""	615359				14973288	Standard	NM_019005		Approved	FLJ20323	uc003srf.3	Q9NXC5	OTTHUMG00000152440	ENST00000340080.4:c.2336G>A	7.37:g.7636027G>A	ENSP00000339881:p.Arg779Gln					MIOS_uc003srg.2_Missense_Mutation_p.R314Q|MIOS_uc010ktq.2_Missense_Mutation_p.R174Q	p.R779Q	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN			11	2644	+			779					B2RTV6|O75216|Q7L551|Q9H092	Missense_Mutation	SNP	ENST00000340080.4	37	c.2336G>A	CCDS43554.1	.	.	.	.	.	.	.	.	.	.	G	35	5.528368	0.96446	.	.	ENSG00000164654	ENST00000340080;ENST00000405785	T;T	0.65178	-0.14;-0.14	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.76162	0.3949	M	0.73962	2.25	0.80722	D	1	D;D	0.64830	0.994;0.994	P;P	0.61658	0.892;0.892	T	0.69665	-0.5084	10	0.13470	T	0.59	-10.3857	19.9829	0.97336	0.0:0.0:1.0:0.0	.	779;779	B4DGE7;Q9NXC5	.;MIO_HUMAN	Q	779	ENSP00000339881:R779Q;ENSP00000384088:R779Q	ENSP00000339881:R779Q	R	+	2	0	MIOS	7602552	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.441000	0.97557	2.809000	0.96659	0.467000	0.42956	CGA		0.428	MIOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326218.1	NM_019005		11	154	0	0	0	0	11	154				
SEMA3C	10512	broad.mit.edu	37	7	80435066	80435066	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:80435066G>A	ENST00000265361.3	-	7	1108	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	SEMA3C_ENST00000419255.2_Missense_Mutation_p.L183F|SEMA3C_ENST00000536800.1_Missense_Mutation_p.L35F|SEMA3C_ENST00000544525.1_Missense_Mutation_p.L201F	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	183	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCAGAGAAAAGCTCCTCATCT	0.323																																						uc003uhj.2		NA																	0				ovary(1)	1						c.(547-549)CTT>TTT		semaphorin 3C precursor							58.0	56.0	57.0					7																	80435066		2203	4298	6501	SO:0001583	missense	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80435066G>A	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.547C>T	7.37:g.80435066G>A	ENSP00000265361:p.Leu183Phe					SEMA3C_uc011kgw.1_Missense_Mutation_p.L201F|SEMA3C_uc011kgx.1_Missense_Mutation_p.L35F	p.L183F	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			7	1109	-			183			Sema.		B4DRL8	Missense_Mutation	SNP	ENST00000265361.3	37	c.547C>T	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.384979	0.82792	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.17	5.17	0.71159	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	M	0.89095	3.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.945;1.0;1.0	T	0.61312	-0.7088	10	0.87932	D	0	.	18.6689	0.91502	0.0:0.0:1.0:0.0	.	35;201;183	B4DRL8;F5H1Z7;Q99985	.;.;SEM3C_HUMAN	F	183;183;201;35	ENSP00000265361:L183F;ENSP00000411193:L183F;ENSP00000445649:L201F;ENSP00000438258:L35F	ENSP00000265361:L183F	L	-	1	0	SEMA3C	80273002	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.952000	0.87827	2.403000	0.81681	0.591000	0.81541	CTT		0.323	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		17	34	0	0	0	0	17	34				
PCLO	27445	broad.mit.edu	37	7	82387992	82387992	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:82387992T>G	ENST00000333891.9	-	25	15665	c.15328A>C	c.(15328-15330)Acc>Ccc	p.T5110P		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						CCAATCAAGGTCTTTTTCATA	0.333																																						uc003uhx.2		NA																	0				ovary(7)	7						c.(15328-15330)ACC>CCC		piccolo isoform 1							139.0	130.0	133.0					7																	82387992		1812	4069	5881	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.chr7:82387992T>G	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.15328A>C	7.37:g.82387992T>G	ENSP00000334319:p.Thr5110Pro						p.T5110P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			25	15617	-			5033			C2 2.			Missense_Mutation	SNP	ENST00000333891.9	37	c.15328A>C	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	15.11	2.736893	0.49045	.	.	ENSG00000186472	ENST00000333891	T	0.69561	-0.41	5.47	5.47	0.80525	.	0.000000	0.44902	U	0.000402	T	0.73682	0.3618	L	0.28556	0.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77292	-0.2642	10	0.87932	D	0	.	15.5528	0.76167	0.0:0.0:0.0:1.0	.	5110	Q9Y6V0-5	.	P	5110	ENSP00000334319:T5110P	ENSP00000334319:T5110P	T	-	1	0	PCLO	82225928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.092000	0.63282	0.477000	0.44152	ACC		0.333	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		32	107	0	0	0	0	32	107				
PODXL	5420	broad.mit.edu	37	7	131194197	131194197	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr7:131194197C>T	ENST00000378555.3	-	4	1197	c.950G>A	c.(949-951)aGc>aAc	p.S317N	PODXL_ENST00000322985.9_Missense_Mutation_p.S285N|PODXL_ENST00000541194.1_Missense_Mutation_p.S319N|PODXL_ENST00000537928.1_Missense_Mutation_p.S285N|PODXL_ENST00000465001.1_5'Flank			O00592	PODXL_HUMAN	podocalyxin-like	317	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TGCTGTGGGGCTGGAGCTCAT	0.602																																						uc003vqw.3		NA																	0				breast(2)|pancreas(1)	3						c.(949-951)AGC>AAC		podocalyxin-like isoform 1 precursor							225.0	218.0	220.0					7																	131194197		2203	4300	6503	SO:0001583	missense	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131194197C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.950G>A	7.37:g.131194197C>T	ENSP00000367817:p.Ser317Asn					PODXL_uc003vqx.3_Missense_Mutation_p.S285N	p.S317N	NM_001018111	NP_001018121	O00592	PODXL_HUMAN			4	1208	-	Melanoma(18;0.162)		317			Thr-rich.|Extracellular (Potential).		A6NHX8|Q52LZ7|Q53ER6	Missense_Mutation	SNP	ENST00000378555.3	37	c.950G>A	CCDS34755.1	.	.	.	.	.	.	.	.	.	.	C	9.746	1.166248	0.21621	.	.	ENSG00000128567	ENST00000541194;ENST00000537928;ENST00000544955;ENST00000378555;ENST00000322985	T;T;T;T	0.12569	2.8;2.67;2.81;2.83	3.46	-6.05	0.02172	.	25.042500	0.00166	N	0.000001	T	0.05364	0.0142	N	0.08118	0	0.09310	N	1	B;B	0.17667	0.023;0.014	B;B	0.17098	0.017;0.013	T	0.24190	-1.0167	10	0.24483	T	0.36	-2.3967	0.1647	0.00107	0.2342:0.2191:0.2315:0.3152	.	285;317	O00592-2;O00592	.;PODXL_HUMAN	N	319;285;275;317;285	ENSP00000440518:S319N;ENSP00000442655:S285N;ENSP00000367817:S317N;ENSP00000319782:S285N	ENSP00000319782:S285N	S	-	2	0	PODXL	130844737	0.009000	0.17119	0.000000	0.03702	0.000000	0.00434	-0.307000	0.08167	-1.698000	0.01418	-2.364000	0.00238	AGC		0.602	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		45	85	0	0	0	0	45	85				
LONRF1	91694	broad.mit.edu	37	8	12586780	12586780	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:12586780G>C	ENST00000398246.3	-	9	1819	c.1750C>G	c.(1750-1752)Ctc>Gtc	p.L584V	MIR3926-2_ENST00000578598.1_RNA|LONRF1_ENST00000525024.1_Missense_Mutation_p.L10V|LONRF1_ENST00000533751.1_Missense_Mutation_p.L227V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	584	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AATACATGGAGAGGGCAAGGC	0.388																																						uc003wwd.1		NA																	0				ovary(1)	1						c.(1750-1752)CTC>GTC		LON peptidase N-terminal domain and ring finger							91.0	86.0	87.0					8																	12586780		1893	4114	6007	SO:0001583	missense	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12586780G>C	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1750C>G	8.37:g.12586780G>C	ENSP00000381298:p.Leu584Val					LONRF1_uc011kxv.1_Missense_Mutation_p.L173V|LONRF1_uc010lsp.1_Missense_Mutation_p.L184V	p.L584V	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	9	1813	-			584			Lon.		B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	ENST00000398246.3	37	c.1750C>G	CCDS5987.2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572844	0.86542	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.05	5.05	0.67936	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	T	0.82217	0.4989	H	0.96111	3.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87775	0.2608	10	0.87932	D	0	-15.8011	19.2927	0.94108	0.0:0.0:1.0:0.0	.	573;584	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	V	584;10;227;187	ENSP00000381298:L584V;ENSP00000436770:L10V;ENSP00000432130:L227V;ENSP00000433327:L187V	ENSP00000381298:L584V	L	-	1	0	LONRF1	12631151	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.737000	0.93849	0.563000	0.77884	CTC		0.388	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		19	59	0	0	0	0	19	59				
PURG	29942	broad.mit.edu	37	8	30890027	30890027	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:30890027C>T	ENST00000475541.1	-	1	1204	c.272G>A	c.(271-273)tGg>tAg	p.W91*	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Nonsense_Mutation_p.W91*	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	91						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCTCCCTATCCAGACTTCGGC	0.547																																						uc003xin.2		NA																	0					0						c.(271-273)TGG>TAG		purine-rich element binding protein G isoform A							63.0	59.0	60.0					8																	30890027		2203	4300	6503	SO:0001587	stop_gained	29942					nucleus	DNA binding	g.chr8:30890027C>T	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.272G>A	8.37:g.30890027C>T	ENSP00000418721:p.Trp91*					WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Nonsense_Mutation_p.W91*	p.W91*	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	291	-			91			By similarity.		Q8TE64	Nonsense_Mutation	SNP	ENST00000475541.1	37	c.272G>A	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	C	45	11.401452	0.99556	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	.	.	.	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-6.7515	17.877	0.88828	0.0:1.0:0.0:0.0	.	.	.	.	X	91	.	ENSP00000345168:W91X	W	-	2	0	PURG	31009569	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.602000	0.82796	2.299000	0.77371	0.462000	0.41574	TGG		0.547	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		21	36	0	0	0	0	21	36				
DCSTAMP	81501	broad.mit.edu	37	8	105367322	105367322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:105367322G>A	ENST00000297581.2	+	3	1296	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron|DCSTAMP_ENST00000520080.1_3'UTR	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	416					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GAGAGGAAGCGCATCCAATAT	0.443																																						uc003ylx.1		NA																	0				pancreas(2)|large_intestine(1)|ovary(1)	4						c.(1246-1248)CGC>CAC		dendritic cell-specific transmembrane protein							121.0	120.0	120.0					8																	105367322		2203	4300	6503	SO:0001583	missense	81501				osteoclast differentiation	cell surface|integral to membrane|plasma membrane		g.chr8:105367322G>A	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.1247G>A	8.37:g.105367322G>A	ENSP00000297581:p.Arg416His						p.R416H	NM_030788	NP_110415	Q9H295	TM7S4_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)		3	1296	+			416			Cytoplasmic.		B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	c.1247G>A	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.649229	0.67358	.	.	ENSG00000164935	ENST00000297581	T	0.78364	-1.17	5.44	5.44	0.79542	Dendritic cell-specific transmembrane protein-like (1);	0.000000	0.85682	D	0.000000	D	0.88808	0.6537	M	0.80616	2.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89834	0.3998	10	0.87932	D	0	-17.4	17.7975	0.88577	0.0:0.0:1.0:0.0	.	416	Q9H295	TM7S4_HUMAN	H	416	ENSP00000297581:R416H	ENSP00000297581:R416H	R	+	2	0	TM7SF4	105436498	0.997000	0.39634	0.132000	0.22025	0.185000	0.23345	7.776000	0.85560	2.700000	0.92200	0.655000	0.94253	CGC		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		5	83	0	0	0	0	5	83				
EIF3H	8667	broad.mit.edu	37	8	117671059	117671059	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr8:117671059G>A	ENST00000276682.4	-	5	1258	c.492C>T	c.(490-492)ctC>ctT	p.L164L	EIF3H_ENST00000521861.1_Silent_p.L150L					eukaryotic translation initiation factor 3, subunit H											large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AACCATAAATGAGAACGACAG	0.413																																						uc003yoa.2		NA																	0				lung(3)	3						c.(448-450)CTC>CTT		eukaryotic translation initiation factor 3,							114.0	108.0	110.0					8																	117671059		2203	4300	6503	SO:0001819	synonymous_variant	8667				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr8:117671059G>A	U54559	CCDS6319.1	8q24.11	2007-07-27	2007-07-27	2007-07-27	ENSG00000147677	ENSG00000147677			3273	protein-coding gene	gene with protein product		603912	"""eukaryotic translation initiation factor 3, subunit 3 gamma, 40kDa"""	EIF3S3		9341143	Standard	NM_003756		Approved	eIF3-gamma, eIF3-p40, eIF3h	uc003yoa.3	O15372	OTTHUMG00000164919	ENST00000276682.4:c.492C>T	8.37:g.117671059G>A						EIF3H_uc003yob.2_Silent_p.L164L|EIF3H_uc011lhz.1_Silent_p.L150L	p.L150L	NM_003756	NP_003747	O15372	EIF3H_HUMAN			3	476	-	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)		150						Silent	SNP	ENST00000276682.4	37	c.450C>T																																																																																					0.413	EIF3H-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000380913.1	NM_003756		24	107	0	0	0	0	24	107				
PIP5K1B	8395	broad.mit.edu	37	9	71503904	71503904	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:71503904T>A	ENST00000265382.3	+	7	631	c.326T>A	c.(325-327)aTc>aAc	p.I109N	PIP5K1B_ENST00000541509.1_Missense_Mutation_p.I109N	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	109	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)|uropod (GO:0001931)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TAGTATTCCATCTGCAGTGAA	0.383																																						uc004agu.2		NA																	0				stomach(1)	1						c.(325-327)ATC>AAC		phosphatidylinositol-4-phosphate 5-kinase, type							209.0	201.0	204.0					9																	71503904		2203	4300	6503	SO:0001583	missense	8395					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding	g.chr9:71503904T>A	U78579	CCDS6624.1, CCDS65063.1	9q13	2008-02-05			ENSG00000107242	ENSG00000107242			8995	protein-coding gene	gene with protein product		602745				9177790, 8841185	Standard	NM_003558		Approved	STM7, MSS4	uc004agu.4	O14986	OTTHUMG00000019976	ENST00000265382.3:c.326T>A	9.37:g.71503904T>A	ENSP00000265382:p.Ile109Asn					PIP5K1B_uc011lrq.1_Missense_Mutation_p.I109N|PIP5K1B_uc004agv.2_RNA	p.I109N	NM_003558	NP_003549	O14986	PI51B_HUMAN		Lung(182;0.133)	7	631	+			109			PIPK.		A8K9L9|B4DIG7|P78518|P78519|Q5T5K6|Q5T5K8|Q5T5K9|Q5VZ00|Q7KYT5|Q8NHQ5|Q92749	Missense_Mutation	SNP	ENST00000265382.3	37	c.326T>A	CCDS6624.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.634453	0.87660	.	.	ENSG00000107242	ENST00000541509;ENST00000377290;ENST00000265382;ENST00000419747;ENST00000437200;ENST00000440050	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.44	5.44	0.79542	Phosphatidylinositol-4-phosphate 5-kinase, core (2);Phosphatidylinositol-4-phosphate 5-kinase, core, subgroup (1);	0.179279	0.47093	D	0.000260	T	0.62514	0.2434	M	0.85099	2.735	0.58432	D	0.999992	D	0.63880	0.993	P	0.62649	0.905	T	0.69917	-0.5015	10	0.87932	D	0	-19.0034	15.5032	0.75716	0.0:0.0:0.0:1.0	.	109	O14986	PI51B_HUMAN	N	109;109;109;56;109;109	ENSP00000438082:I109N;ENSP00000265382:I109N;ENSP00000398587:I109N;ENSP00000411477:I109N	ENSP00000265382:I109N	I	+	2	0	PIP5K1B	70693724	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.947000	0.87758	2.048000	0.60808	0.533000	0.62120	ATC		0.383	PIP5K1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052561.2	NM_003558		41	68	0	0	0	0	41	68				
AGTPBP1	23287	broad.mit.edu	37	9	88293287	88293287	+	Silent	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:88293287A>T	ENST00000357081.3	-	5	396	c.252T>A	c.(250-252)ctT>ctA	p.L84L	AGTPBP1_ENST00000376109.3_Silent_p.L136L|AGTPBP1_ENST00000491784.1_Intron|AGTPBP1_ENST00000376083.3_Silent_p.L84L|AGTPBP1_ENST00000337006.4_Silent_p.L26L|AGTPBP1_ENST00000376080.1_Silent_p.L26L|AGTPBP1_ENST00000432218.1_5'UTR|AGTPBP1_ENST00000376081.4_Silent_p.L84L			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	84					adult walking behavior (GO:0007628)|C-terminal protein deglutamylation (GO:0035609)|cerebellar Purkinje cell differentiation (GO:0021702)|eye photoreceptor cell differentiation (GO:0001754)|mitochondrion organization (GO:0007005)|neuromuscular process (GO:0050905)|neurotransmitter metabolic process (GO:0042133)|olfactory bulb development (GO:0021772)|protein side chain deglutamylation (GO:0035610)|retina development in camera-type eye (GO:0060041)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						TTAAGATATTAAGTGTAGTTT	0.308																																						uc011ltd.1		NA																	0				ovary(4)|large_intestine(2)|skin(1)	7						c.(250-252)CTT>CTA		ATP/GTP binding protein 1							78.0	74.0	75.0					9																	88293287		2200	4299	6499	SO:0001819	synonymous_variant	23287				C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr9:88293287A>T	AB028958	CCDS6672.1, CCDS75854.1	9q21.33	2014-06-23			ENSG00000135049	ENSG00000135049			17258	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 1"", ""tubulinyl-Tyr carboxypeptidase"", ""carboxypeptidase-tubulin"", ""tyrosine carboxypeptidase"", ""soluble carboxypeptidase"""	606830				11083920	Standard	NM_015239		Approved	KIAA1035, Nna1, CCP1	uc010mqc.3	Q9UPW5	OTTHUMG00000020124	ENST00000357081.3:c.252T>A	9.37:g.88293287A>T						AGTPBP1_uc011ltc.1_Silent_p.L26L|AGTPBP1_uc010mqc.2_Silent_p.L84L|AGTPBP1_uc011lte.1_Silent_p.L136L	p.L84L	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN			4	285	-			84					B4DIT6|B4DRZ8|Q5VV80|Q63HM7|Q658P5|Q6P9D6|Q9H8U6|Q9H9W8|Q9NVK1	Silent	SNP	ENST00000357081.3	37	c.252T>A																																																																																					0.308	AGTPBP1-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000052893.1	NM_015239		4	15	0	0	0	0	4	15				
C9orf156	51531	broad.mit.edu	37	9	100672670	100672670	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:100672670T>C	ENST00000375119.3	-	4	714	c.638A>G	c.(637-639)cAt>cGt	p.H213R	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	213					viral process (GO:0016032)		hydrolase activity (GO:0016787)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CTTAGTGCTATGGTGGGGTTG	0.473																																						uc004axv.1		NA																	0					0						c.(637-639)CAT>CGT		Nef associated protein 1							198.0	159.0	172.0					9																	100672670		2203	4300	6503	SO:0001583	missense	51531				interspecies interaction between organisms		hydrolase activity	g.chr9:100672670T>C	AK023069	CCDS6730.1	9q31.1	2011-03-02			ENSG00000136932	ENSG00000136932			30967	protein-coding gene	gene with protein product	"""Nef (lentivirus myristoylated factor) associated protein 1"""						Standard	NM_016481		Approved	HSPC219, NAP1	uc004axv.1	Q9BU70	OTTHUMG00000021007	ENST00000375119.3:c.638A>G	9.37:g.100672670T>C	ENSP00000364260:p.His213Arg					C9orf156_uc004axw.1_Missense_Mutation_p.H110R|C9orf156_uc004axx.1_Missense_Mutation_p.H67R|C9orf156_uc010msq.1_Missense_Mutation_p.H110R	p.H213R	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN			4	715	-		Acute lymphoblastic leukemia(62;0.158)	213					Q5T113|Q86SK0|Q9NXJ7|Q9P0Q7	Missense_Mutation	SNP	ENST00000375119.3	37	c.638A>G	CCDS6730.1	.	.	.	.	.	.	.	.	.	.	T	4.599	0.111274	0.08831	.	.	ENSG00000136932	ENST00000375119;ENST00000375118;ENST00000325350	T;T	0.28454	2.03;1.61	4.99	-5.68	0.02436	Uncharacterised domain UPF0066, YaeB-like domain (1);	3.430110	0.00496	N	0.000144	T	0.13713	0.0332	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.16808	-1.0390	10	0.08837	T	0.75	12.9579	4.038	0.09738	0.1324:0.4988:0.1339:0.235	.	110;67;213	Q6Y2L2;Q5T114;Q9BU70	.;.;NAP1_HUMAN	R	213;67;110	ENSP00000364260:H213R;ENSP00000364259:H67R	ENSP00000324426:H110R	H	-	2	0	C9orf156	99712491	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-4.400000	0.00240	-1.026000	0.03330	-0.261000	0.10672	CAT		0.473	C9orf156-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055401.1	NM_016481		17	42	0	0	0	0	17	42				
ODF2	4957	broad.mit.edu	37	9	131221864	131221864	+	Silent	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr9:131221864G>A	ENST00000434106.3	+	3	414	c.51G>A	c.(49-51)aaG>aaA	p.K17K	ODF2_ENST00000444119.2_5'Flank|ODF2_ENST00000535026.1_5'UTR|ODF2_ENST00000604420.1_Silent_p.K17K|ODF2_ENST00000393533.2_Silent_p.K17K|ODF2_ENST00000448249.3_5'UTR|ODF2_ENST00000351030.3_5'UTR|ODF2_ENST00000372814.3_Silent_p.K61K|ODF2_ENST00000546203.1_Silent_p.K17K|ODF2_ENST00000393527.3_5'UTR|ODF2_ENST00000372791.3_Silent_p.K17K|ODF2_ENST00000372807.5_5'Flank	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	17					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						CGTGTGGGAAGAACGGAGTAA	0.483																																						uc011mbd.1		NA																	0				ovary(1)	1						c.(49-51)AAG>AAA		outer dense fiber of sperm tails 2 isoform 1							140.0	114.0	123.0					9																	131221864		2203	4300	6503	SO:0001819	synonymous_variant	4957				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity	g.chr9:131221864G>A	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.51G>A	9.37:g.131221864G>A						ODF2_uc011maz.1_Silent_p.K17K|ODF2_uc011mba.1_5'UTR|ODF2_uc010myb.2_5'UTR|ODF2_uc011mbb.1_5'UTR|ODF2_uc011mbc.1_5'UTR|ODF2_uc004bva.2_5'UTR|ODF2_uc004bvb.2_5'UTR|ODF2_uc011mbe.1_5'UTR|ODF2_uc004bvc.2_5'UTR|ODF2_uc010myc.2_Silent_p.K17K|ODF2_uc011mbf.1_Silent_p.K17K|ODF2_uc004bvd.3_Silent_p.K17K|ODF2_uc004bve.2_Silent_p.K17K	p.K17K	NM_002540	NP_002531	Q5BJF6	ODFP2_HUMAN			3	362	+			17					B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Silent	SNP	ENST00000434106.3	37	c.51G>A	CCDS56588.1																																																																																				0.483	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3			9	13	0	0	0	0	9	13				
FANCB	2187	broad.mit.edu	37	X	14883285	14883285	+	Silent	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:14883285A>G	ENST00000324138.3	-	2	501	c.348T>C	c.(346-348)aaT>aaC	p.N116N	FANCB_ENST00000398334.1_Silent_p.N116N	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	116					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTTCAAATTTATTAGTACTGT	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1		NA																	0				lung(1)	1						c.(346-348)AAT>AAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							33.0	32.0	33.0					X																	14883285		2202	4297	6499	SO:0001819	synonymous_variant	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14883285A>G	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.348T>C	X.37:g.14883285A>G						FANCB_uc004cwh.1_Silent_p.N116N	p.N116N	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			3	616	-	Hepatocellular(33;0.183)		116					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.348T>C	CCDS14161.1																																																																																				0.318	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1	NM_152633		15	48	0	0	0	0	15	48				
CXorf21	80231	broad.mit.edu	37	X	30577998	30577998	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:30577998A>T	ENST00000378962.3	-	3	797	c.475T>A	c.(475-477)Tct>Act	p.S159T		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	159										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GGAATCTCAGATGACTTCAGC	0.453																																						uc004dcg.1		NA																	0				ovary(1)	1						c.(475-477)TCT>ACT		hypothetical protein LOC80231							53.0	52.0	52.0					X																	30577998		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577998A>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.475T>A	X.37:g.30577998A>T	ENSP00000368245:p.Ser159Thr						p.S159T	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	751	-			159						Missense_Mutation	SNP	ENST00000378962.3	37	c.475T>A	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	A	13.76	2.331923	0.41297	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.27	5.27	0.74061	.	0.141038	0.48286	D	0.000195	T	0.48660	0.1512	M	0.64997	1.995	0.31701	N	0.64071	P	0.42692	0.787	B	0.42959	0.403	T	0.58515	-0.7623	9	0.27785	T	0.31	-7.7876	14.2561	0.66053	1.0:0.0:0.0:0.0	.	159	Q9HAI6	CX021_HUMAN	T	159	.	ENSP00000368245:S159T	S	-	1	0	CXorf21	30487919	1.000000	0.71417	0.838000	0.33150	0.809000	0.45718	5.430000	0.66501	1.942000	0.56320	0.417000	0.27973	TCT		0.453	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159		22	54	0	0	0	0	22	54				
FAM47C	442444	broad.mit.edu	37	X	37026592	37026592	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:37026592C>T	ENST00000358047.3	+	1	161	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	37										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CAAGCACAGGCGCCTGAGGTT	0.617																																						uc004ddl.1		NA																	0				ovary(3)	3						c.(109-111)CGC>TGC		hypothetical protein LOC442444							27.0	26.0	26.0					X																	37026592		2202	4296	6498	SO:0001583	missense	442444							g.chrX:37026592C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.109C>T	X.37:g.37026592C>T	ENSP00000367913:p.Arg37Cys						p.R37C	NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN			1	123	+			37					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.109C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.679522	0.29783	.	.	ENSG00000198173	ENST00000358047	T	0.21543	2.0	0.462	0.462	0.16695	.	.	.	.	.	T	0.35885	0.0947	L	0.57536	1.79	0.09310	N	1	D	0.76494	0.999	D	0.67103	0.949	T	0.10567	-1.0624	8	0.66056	D	0.02	.	.	.	.	.	37	Q5HY64	FA47C_HUMAN	C	37	ENSP00000367913:R37C	ENSP00000367913:R37C	R	+	1	0	FAM47C	36936513	0.001000	0.12720	0.007000	0.13788	0.042000	0.13812	-0.160000	0.10041	0.475000	0.27415	0.287000	0.19450	CGC		0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		17	25	0	0	0	0	17	25				
ZNF630	57232	broad.mit.edu	37	X	47918974	47918974	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:47918974G>A	ENST00000409324.3	-	5	1083	c.857C>T	c.(856-858)aCt>aTt	p.T286I	ZNF630_ENST00000442455.3_Missense_Mutation_p.T272I|ZNF630_ENST00000276054.4_Missense_Mutation_p.T162I|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	286					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(1)|large_intestine(6)|lung(11)|ovary(1)	19						TTTCTCTCCAGTATGAATTCT	0.388																																						uc004div.3		NA																	0				ovary(1)|lung(1)	2						c.(856-858)ACT>ATT		zinc finger protein 630							86.0	78.0	81.0					X																	47918974		2195	4289	6484	SO:0001583	missense	57232				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chrX:47918974G>A	AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.857C>T	X.37:g.47918974G>A	ENSP00000386393:p.Thr286Ile					ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.T162I	p.T286I	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN			5	1109	-			286					F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	c.857C>T	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	11.51	1.661413	0.29515	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.25749	1.78;1.78;1.78	2.16	-0.0918	0.13659	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27278	0.0669	M	0.79926	2.475	0.24399	N	0.994718	P	0.47962	0.903	B	0.40864	0.342	T	0.23868	-1.0176	9	0.87932	D	0	.	4.3384	0.11097	0.1745:0.2352:0.5903:0.0	.	286	Q2M218	ZN630_HUMAN	I	272;162;286	ENSP00000393163:T272I;ENSP00000354683:T162I;ENSP00000386393:T286I	ENSP00000354683:T162I	T	-	2	0	ZNF630	47803918	0.622000	0.27085	0.061000	0.19648	0.276000	0.26787	0.842000	0.27627	0.175000	0.19841	0.544000	0.68410	ACT		0.388	ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735		32	100	0	0	0	0	32	100				
HEPH	9843	broad.mit.edu	37	X	65476116	65476116	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chrX:65476116A>G	ENST00000343002.2	+	16	3504	c.2840A>G	c.(2839-2841)gAt>gGt	p.D947G	HEPH_ENST00000374727.3_Missense_Mutation_p.D950G|HEPH_ENST00000519389.1_Missense_Mutation_p.D1001G|HEPH_ENST00000419594.1_Missense_Mutation_p.D758G|HEPH_ENST00000441993.2_Missense_Mutation_p.D950G|HEPH_ENST00000336279.5_Missense_Mutation_p.D680G			Q9BQS7	HEPH_HUMAN	hephaestin	947	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGGTCCCAGGATCCAGGCAGT	0.413																																						uc011moz.1		NA																	0				lung(5)|ovary(4)	9						c.(2848-2850)GAT>GGT		hephaestin isoform a							133.0	120.0	124.0					X																	65476116		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65476116A>G	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.2840A>G	X.37:g.65476116A>G	ENSP00000343939:p.Asp947Gly					HEPH_uc004dwn.2_Missense_Mutation_p.D950G|HEPH_uc004dwo.2_Missense_Mutation_p.D680G|HEPH_uc010nkr.2_Missense_Mutation_p.D758G|HEPH_uc011mpa.1_Missense_Mutation_p.D950G|HEPH_uc010nks.2_Missense_Mutation_p.D239G	p.D950G	NM_138737	NP_620074	Q9BQS7	HEPH_HUMAN			17	2909	+			947			Extracellular (Potential).|Plastocyanin-like 6.		B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.2849A>G		.	.	.	.	.	.	.	.	.	.	A	7.128	0.579325	0.13686	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99771	-6.71;-6.71;-6.71;-6.71;-6.71;-6.71	4.43	4.43	0.53597	Cupredoxin (2);	1.102670	0.06795	N	0.787716	D	0.99029	0.9668	L	0.39245	1.2	0.09310	N	1	B;B;P;B	0.35527	0.259;0.146;0.507;0.123	B;B;B;B	0.36092	0.102;0.102;0.18;0.217	D	0.99978	1.2331	10	0.52906	T	0.07	.	11.9056	0.52711	1.0:0.0:0.0:0.0	.	1001;347;758;947	E9PHN8;B4DFV3;E7ES21;Q9BQS7	.;.;.;HEPH_HUMAN	G	1001;950;680;950;758;947	ENSP00000430620:D1001G;ENSP00000363859:D950G;ENSP00000337418:D680G;ENSP00000411687:D950G;ENSP00000413211:D758G;ENSP00000343939:D947G	ENSP00000337418:D680G	D	+	2	0	HEPH	65392841	0.297000	0.24408	0.009000	0.14445	0.126000	0.20510	1.996000	0.40776	1.760000	0.52011	0.486000	0.48141	GAT		0.413	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		23	87	0	0	0	0	23	87				
PIGK	10026	broad.mit.edu	37	1	77632420	77632420	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:77632420delA	ENST00000370812.3	-	5	494	c.471delT	c.(469-471)attfs	p.I157fs	PIGK_ENST00000478391.1_5'UTR|PIGK_ENST00000445065.1_Frame_Shift_Del_p.I63fs|PIGK_ENST00000359130.1_Frame_Shift_Del_p.I157fs|PIGK_ENST00000370813.5_Frame_Shift_Del_p.I81fs	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	157					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TATAAATTAGAATATTGCTTC	0.333																																						uc001dhk.2		NA																	0				ovary(2)|pancreas(1)	3						c.(469-471)ATTfs		phosphatidylinositol glycan anchor biosynthesis,							32.0	35.0	34.0					1																	77632420		2203	4295	6498	SO:0001589	frameshift_variant	10026				attachment of GPI anchor to protein|C-terminal protein lipidation|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	cysteine-type endopeptidase activity|GPI-anchor transamidase activity|protein binding	g.chr1:77632420delA	AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.471delT	1.37:g.77632420delA	ENSP00000359848:p.Ile157fs					PIGK_uc010orj.1_Frame_Shift_Del_p.I81fs|PIGK_uc009wbx.2_Frame_Shift_Del_p.I63fs|PIGK_uc001dhl.1_Frame_Shift_Del_p.I157fs	p.I157fs	NM_005482	NP_005473	Q92643	GPI8_HUMAN			5	516	-			157			Lumenal (Potential).		B2R7K3|B4E2M3|O14822|Q5TG77	Frame_Shift_Del	DEL	ENST00000370812.3	37	c.471delT	CCDS674.1																																																																																				0.333	PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482		18	33	NA	NA	NA	NA	18	33	---	---	---	---
RBMXL1	494115	broad.mit.edu	37	1	89448604	89448605	+	Frame_Shift_Ins	INS	-	-	GG	rs372937970	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:89448604_89448605insGG	ENST00000321792.5	-	2	1332_1333	c.905_906insCC	c.(904-906)ccafs	p.P302fs	CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Frame_Shift_Ins_p.P302fs|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	302	Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										CACCATAAGATGGCGGGGGCCC	0.475																																						uc009wcx.2		NA																	0					0						c.(904-906)CCAfs		RNA binding motif protein, X-linked-like 1																																				SO:0001589	frameshift_variant	494115						nucleotide binding|RNA binding	g.chr1:89448604_89448605insGG	BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.904_905dupCC	1.37:g.89448605_89448606dupGG	ENSP00000318415:p.Pro302fs					CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Frame_Shift_Ins_p.P302fs	p.P302fs	NM_001162536	NP_001156008	Q96E39	RBMXL_HUMAN			3	1621_1622	-			302			Ser-rich.			Frame_Shift_Ins	INS	ENST00000321792.5	37	c.905_906insCC	CCDS716.1																																																																																				0.475	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029403.3	NM_019610		8	311	NA	NA	NA	NA	8	311	---	---	---	---
USP21	27005	broad.mit.edu	37	1	161132797	161132798	+	Frame_Shift_Ins	INS	-	-	T	rs147410329		TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr1:161132797_161132798insT	ENST00000289865.8	+	6	1203_1204	c.982_983insT	c.(982-984)cttfs	p.L328fs	USP21_ENST00000368001.1_Frame_Shift_Ins_p.L328fs|USP21_ENST00000368002.3_Frame_Shift_Ins_p.L328fs	NM_012475.4	NP_036607.3	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	328	USP.				histone deubiquitination (GO:0016578)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cysteine-type peptidase activity (GO:0008234)|metal ion binding (GO:0046872)|NEDD8-specific protease activity (GO:0019784)|transcription coactivator activity (GO:0003713)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCCACCGATACTTGCCAATGGT	0.594																																						uc010pke.1		NA																	0				ovary(2)|lung(1)|prostate(1)|breast(1)	5						c.(982-984)CTTfs		ubiquitin-specific protease 21																																				SO:0001589	frameshift_variant	27005				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr1:161132797_161132798insT	AF177758	CCDS30920.1	1q22	2008-04-11	2005-08-08		ENSG00000143258	ENSG00000143258		"""Ubiquitin-specific peptidases"""	12620	protein-coding gene	gene with protein product		604729	"""ubiquitin specific protease 21"""	USP23		12838346, 10799498	Standard	XM_006711273		Approved	USP16	uc010pkd.2	Q9UK80	OTTHUMG00000033154	ENST00000289865.8:c.984dupT	1.37:g.161132799_161132799dupT	ENSP00000289865:p.Leu328fs					USP21_uc010pkc.1_Frame_Shift_Ins_p.L328fs|USP21_uc010pkd.1_Frame_Shift_Ins_p.L328fs|USP21_uc010pkf.1_Frame_Shift_Ins_p.L328fs	p.L328fs	NM_001014443	NP_001014443	Q9UK80	UBP21_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00275)		7	1359_1360	+	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		328					Q59H60|Q5BKT5|Q5VTW9|Q5VTX0|Q9BTV1|Q9HBS2|Q9NYN4	Frame_Shift_Ins	INS	ENST00000289865.8	37	c.982_983insT	CCDS30920.1																																																																																				0.594	USP21-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080801.1			40	88	NA	NA	NA	NA	40	88	---	---	---	---
IAH1	285148	broad.mit.edu	37	2	9628388	9628388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:9628388delT	ENST00000497473.1	+	6	714	c.677delT	c.(676-678)ctgfs	p.L227fs	IAH1_ENST00000482918.1_Frame_Shift_Del_p.L114fs|IAH1_ENST00000545602.1_Frame_Shift_Del_p.L114fs|IAH1_ENST00000470914.1_Frame_Shift_Del_p.L114fs	NM_001039613.1	NP_001034702.1	Q2TAA2	IAH1_HUMAN	isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae)	227					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACCTTTGCTGCTTCCTTAC	0.433																																						uc002qzr.2		NA																	0					0						c.(676-678)CTGfs		isoamyl acetate-hydrolyzing esterase 1 homolog							131.0	119.0	123.0					2																	9628388		1882	4117	5999	SO:0001589	frameshift_variant	285148				lipid catabolic process		hydrolase activity, acting on ester bonds	g.chr2:9628388delT	BC111025	CCDS42651.1	2p25.1	2010-08-05			ENSG00000134330	ENSG00000134330			27696	protein-coding gene	gene with protein product						12477932	Standard	XR_426950		Approved		uc002qzr.3	Q2TAA2	OTTHUMG00000159076	ENST00000497473.1:c.677delT	2.37:g.9628388delT	ENSP00000417580:p.Leu227fs					IAH1_uc002qzs.2_Frame_Shift_Del_p.L113fs|IAH1_uc002qzt.2_Frame_Shift_Del_p.L113fs|IAH1_uc010yiz.1_RNA	p.L226fs	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN			6	703	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		226					B4DMV3	Frame_Shift_Del	DEL	ENST00000497473.1	37	c.677delT	CCDS42651.1																																																																																				0.433	IAH1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353192.1	NM_001039613		36	84	NA	NA	NA	NA	36	84	---	---	---	---
CD207	50489	broad.mit.edu	37	2	71060135	71060136	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr2:71060135_71060136insC	ENST00000410009.3	-	4	657_658	c.612_613insG	c.(610-615)gggaacfs	p.N205fs		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	205	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TAATAGAAGTTCCCCTTGAAGT	0.446																																						uc002shg.2		NA																	0				ovary(1)|lung(1)	2						c.(610-615)GGGAACfs		CD207 antigen, langerin																																				SO:0001589	frameshift_variant	50489				defense response to virus	endocytic vesicle|integral to membrane	mannose binding	g.chr2:71060135_71060136insC	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.613dupG	2.37:g.71060139_71060139dupC	ENSP00000386378:p.Asn205fs						p.G204fs	NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN			4	659_660	-			204_205			C-type lectin.|Extracellular (Potential).			Frame_Shift_Ins	INS	ENST00000410009.3	37	c.612_613insG																																																																																					0.446	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717		21	61	NA	NA	NA	NA	21	61	---	---	---	---
PLSCR1	5359	broad.mit.edu	37	3	146246480	146246494	+	In_Frame_Del	DEL	ACTGGCTGATTATAT	ACTGGCTGATTATAT	-	rs560059791|rs560058273|rs147509085	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr3:146246480_146246494delACTGGCTGATTATAT	ENST00000342435.4	-	4	629_643	c.219_233delATATAATCAGCCAGT	c.(217-234)gtatataatcagccagtt>gtt	p.73_78VYNQPV>V	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000448205.1_Intron|PLSCR1_ENST00000487389.1_In_Frame_Del_p.66_71VYNQPV>V	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	73	Proline-rich domain (PRD).				acute-phase response (GO:0006953)|apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|negative regulation of viral genome replication (GO:0045071)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid scrambling (GO:0017121)|platelet activation (GO:0030168)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of gene expression (GO:0010628)|positive regulation of innate immune response (GO:0045089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|regulation of mast cell activation (GO:0033003)|response to interferon-beta (GO:0035456)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|epidermal growth factor receptor binding (GO:0005154)|phospholipid scramblase activity (GO:0017128)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SH3 domain binding (GO:0017124)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGCAGCTCCAACTGGCTGATTATATACTGGCTGAT	0.521														8	0.00159744	0.0015	0.0029	5008	,	,		18289	0.0		0.004	False		,,,				2504	0.0					uc003evx.3		NA																	0				ovary(2)	2						c.(217-234)GTATATAATCAGCCAGTT>GTT		phospholipid scramblase 1				3,4261		1,1,2130						-2.2	0.0			97	49,8205		7,35,4085	no	coding	PLSCR1	NM_021105.2		8,36,6215	A1A1,A1R,RR		0.5937,0.0704,0.4154				52,12466				SO:0001651	inframe_deletion	5359				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding	g.chr3:146246480_146246494delACTGGCTGATTATAT	AF098642	CCDS3135.1	3q23	2004-02-27			ENSG00000188313	ENSG00000188313			9092	protein-coding gene	gene with protein product		604170				9218461	Standard	NM_021105		Approved	MMTRA1B	uc003evx.4	O15162	OTTHUMG00000159427	ENST00000342435.4:c.219_233delATATAATCAGCCAGT	3.37:g.146246480_146246494delACTGGCTGATTATAT	ENSP00000345494:p.Val73_Pro77del					PLSCR1_uc003evy.3_In_Frame_Del_p.66_71VYNQPV>V|PLSCR1_uc011bnn.1_Intron|PLSCR1_uc003evz.3_Intron|PLSCR1_uc003ewa.2_In_Frame_Del_p.73_78VYNQPV>V	p.73_78VYNQPV>V	NM_021105	NP_066928	O15162	PLS1_HUMAN			4	607_621	-			73_78			Cytoplasmic.		B2R8H8|B4DTE8	In_Frame_Del	DEL	ENST00000342435.4	37	c.219_233delATATAATCAGCCAGT	CCDS3135.1																																																																																				0.521	PLSCR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355257.2	NM_021105		9	124	NA	NA	NA	NA	9	124	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629852	187629853	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr4:187629852_187629853insT	ENST00000441802.2	-	2	1338_1339	c.1129_1130insA	c.(1129-1131)agtfs	p.S377fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	377	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAAATTCACTTATTTCTGCT	0.431										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1129-1131)AGTfs		FAT tumor suppressor 1 precursor																																				SO:0001589	frameshift_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629852_187629853insT	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1130dupA	4.37:g.187629854_187629854dupT	ENSP00000406229:p.Ser377fs	HNSCC(5;0.00058)				FAT1_uc010iso.1_Frame_Shift_Ins_p.S377fs	p.S377fs	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	1317_1318	-			377			Extracellular (Potential).|Cadherin 3.			Frame_Shift_Ins	INS	ENST00000441802.2	37	c.1129_1130insA	CCDS47177.1																																																																																				0.431	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		36	50	NA	NA	NA	NA	36	50	---	---	---	---
GTF3C6	112495	broad.mit.edu	37	6	111288940	111288941	+	Frame_Shift_Ins	INS	-	-	T	rs41289884	byFrequency	TCGA-CV-7435-01A-11D-2129-08	TCGA-CV-7435-10A-01D-2129-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	16b7fd85-3664-4c4a-9a43-48b107dbcf7f	87d31453-f5b2-412a-b996-83d5b9d233ec	g.chr6:111288940_111288941insT	ENST00000329970.7	+	6	799_800	c.589_590insT	c.(589-591)atafs	p.I197fs	GTF3C6_ENST00000480191.1_3'UTR|AL357515.1_ENST00000583422.1_RNA	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	197					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TCTTATTGATATACCTTCTGAG	0.371																																						uc003pum.2		NA																	0					0						c.(589-591)ATAfs		general transcription factor IIIC, polypeptide																																				SO:0001589	frameshift_variant	112495					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr6:111288940_111288941insT	AK057977	CCDS5087.1	6q21	2010-03-23	2007-07-26	2007-07-26	ENSG00000155115	ENSG00000155115		"""General transcription factors"""	20872	protein-coding gene	gene with protein product		611784	"""chromosome 6 open reading frame 51"""	C6orf51		17409385	Standard	NM_138408		Approved	bA397G5.3, TFIIIC35	uc003pum.3	Q969F1	OTTHUMG00000015370	ENST00000329970.7:c.590dupT	6.37:g.111288941_111288941dupT	ENSP00000357863:p.Ile197fs						p.I197fs	NM_138408	NP_612417	Q969F1	TF3C6_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)	6	799_800	+		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)	197					Q5VXN2	Frame_Shift_Ins	INS	ENST00000329970.7	37	c.589_590insT	CCDS5087.1																																																																																				0.371	GTF3C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041820.1	NM_138408		35	78	NA	NA	NA	NA	35	78	---	---	---	---
