#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
PLEKHG5	57449	broad.mit.edu	37	1	6529217	6529217	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:6529217C>T	ENST00000400915.3	-	20	2368	c.2302G>A	c.(2302-2304)Gag>Aag	p.E768K	PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E712K|TNFRSF25_ENST00000351959.5_5'Flank|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E789K|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E749K|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E712K|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E712K|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E781K|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.E789K|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E791K|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E712K	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	768	Glu-rich.				apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		tcttcctcctcctgctcatcc	0.637																																						uc001ano.1		NA																	0				liver(1)	1						c.(2302-2304)GAG>AAG		pleckstrin homology domain containing family G							78.0	81.0	80.0					1																	6529217		2203	4300	6503	SO:0001583	missense	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6529217C>T	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.2302G>A	1.37:g.6529217C>T	ENSP00000383706:p.Glu768Lys					PLEKHG5_uc001ann.1_Missense_Mutation_p.E749K|PLEKHG5_uc001anq.1_Missense_Mutation_p.E789K|PLEKHG5_uc001anp.1_Missense_Mutation_p.E789K|TNFRSF25_uc001ana.2_5'Flank|TNFRSF25_uc001anb.2_5'Flank|TNFRSF25_uc001anc.2_5'Flank|TNFRSF25_uc001and.2_5'Flank|TNFRSF25_uc009vlz.2_5'Flank|TNFRSF25_uc001ane.2_5'Flank|TNFRSF25_uc001anf.2_5'Flank|TNFRSF25_uc001ang.2_5'Flank|TNFRSF25_uc001anh.2_5'Flank|TNFRSF25_uc001ani.1_5'Flank|PLEKHG5_uc001anj.1_Missense_Mutation_p.E273K|PLEKHG5_uc009vma.1_Missense_Mutation_p.E552K|PLEKHG5_uc010nzr.1_Missense_Mutation_p.E781K|PLEKHG5_uc001ank.1_Missense_Mutation_p.E712K|PLEKHG5_uc009vmb.1_Missense_Mutation_p.E712K|PLEKHG5_uc001anl.1_Missense_Mutation_p.E712K|PLEKHG5_uc001anm.1_Missense_Mutation_p.E712K|PLEKHG5_uc001anr.1_5'UTR	p.E768K	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	20	2403	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	768			Glu-rich.		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	c.2302G>A	CCDS41241.1	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138718	0.56936	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.17;2.75;2.75;2.75;0.93;2.75;2.75;0.93;-0.18;2.75;-0.18;0.93	5.14	3.18	0.36537	.	.	.	.	.	T	0.47619	0.1455	L	0.36672	1.1	0.26247	N	0.978787	P;P;B;B;P	0.46784	0.884;0.884;0.006;0.015;0.816	B;B;B;B;B	0.43155	0.41;0.41;0.007;0.027;0.232	T	0.28459	-1.0043	9	0.08599	T	0.76	-12.406	7.4361	0.27156	0.1644:0.7479:0.0:0.0877	.	781;712;789;789;768	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	K	789;712;712;768;789;749;712;712;781;712;618;791;712	ENSP00000366977:E789K;ENSP00000344570:E712K;ENSP00000383704:E712K;ENSP00000383706:E768K;ENSP00000366969:E789K;ENSP00000366961:E749K;ENSP00000366957:E712K;ENSP00000366954:E712K;ENSP00000441445:E781K;ENSP00000366966:E712K;ENSP00000439625:E791K;ENSP00000437710:E712K	ENSP00000344570:E712K	E	-	1	0	PLEKHG5	6451804	0.998000	0.40836	0.795000	0.32087	0.965000	0.64279	4.628000	0.61282	0.504000	0.28082	0.462000	0.41574	GAG		0.637	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		17	87	0	0	0	0	17	87				
RPS6KA1	6195	broad.mit.edu	37	1	26888033	26888033	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:26888033A>T	ENST00000374168.2	+	17	1623	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	RPS6KA1_ENST00000530003.1_Missense_Mutation_p.E474V|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.E499V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.E479V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.E398V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.E398V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	490	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTGGTGACAGAGCTGATGCGG	0.582																																						uc001bmr.1		NA																	0				lung(1)	1						c.(1468-1470)GAG>GTG		ribosomal protein S6 kinase, 90kDa, polypeptide							184.0	165.0	171.0					1																	26888033		2203	4300	6503	SO:0001583	missense	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26888033A>T	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1469A>T	1.37:g.26888033A>T	ENSP00000363283:p.Glu490Val					RPS6KA1_uc010ofe.1_Missense_Mutation_p.E398V|RPS6KA1_uc010off.1_Missense_Mutation_p.E474V|RPS6KA1_uc001bms.1_Missense_Mutation_p.E499V|RPS6KA1_uc009vsl.1_Missense_Mutation_p.E333V	p.E490V	NM_002953	NP_002944	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	17	1632	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	490			Protein kinase 2.		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	ENST00000374168.2	37	c.1469A>T	CCDS284.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.987126	0.93106	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000374164;ENST00000531382;ENST00000403732	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;0.61	5.84	5.84	0.93424	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.046270	0.85682	D	0.000000	D	0.87958	0.6309	H	0.98833	4.345	0.80722	D	1	D;D;D	0.71674	0.998;0.988;0.994	D;D;D	0.83275	0.996;0.936;0.996	D	0.92799	0.6255	10	0.87932	D	0	.	16.2159	0.82217	1.0:0.0:0.0:0.0	.	474;499;490	B7Z2K7;Q15418-2;Q15418	.;.;KS6A1_HUMAN	V	490;479;398;398;474;168;499;106	ENSP00000363283:E490V;ENSP00000363281:E479V;ENSP00000431651:E398V;ENSP00000363277:E398V;ENSP00000432281:E474V;ENSP00000435412:E499V;ENSP00000383967:E106V	ENSP00000363277:E398V	E	+	2	0	RPS6KA1	26760620	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.281000	0.95811	2.243000	0.73865	0.533000	0.62120	GAG		0.582	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	NM_002953		16	132	0	0	0	0	16	132				
EYA3	2140	broad.mit.edu	37	1	28339624	28339624	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:28339624G>C	ENST00000373871.3	-	9	1007	c.767C>G	c.(766-768)tCt>tGt	p.S256C	EYA3_ENST00000545175.1_Missense_Mutation_p.S203C|EYA3_ENST00000373863.3_Missense_Mutation_p.S210C|EYA3_ENST00000373864.1_Missense_Mutation_p.S100C|EYA3_ENST00000540618.1_Missense_Mutation_p.S210C|EYA3_ENST00000436342.2_Missense_Mutation_p.S130C|EYA3_ENST00000471498.1_5'UTR	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3	256					anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTGCTTACCAGAGGAAAGTCT	0.468																																						uc001bpi.1		NA																	0				ovary(2)|skin(1)	3						c.(766-768)TCT>TGT		eyes absent 3							136.0	128.0	131.0					1																	28339624		2203	4300	6503	SO:0001583	missense	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28339624G>C	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.767C>G	1.37:g.28339624G>C	ENSP00000362978:p.Ser256Cys					EYA3_uc010ofs.1_Missense_Mutation_p.S203C|EYA3_uc010oft.1_Missense_Mutation_p.S210C|EYA3_uc001bpj.2_Missense_Mutation_p.S210C|EYA3_uc001bpk.1_RNA|EYA3_uc010ofu.1_RNA	p.S256C	NM_001990	NP_001981	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	9	932	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	256					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Missense_Mutation	SNP	ENST00000373871.3	37	c.767C>G	CCDS316.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204926	0.79127	.	.	ENSG00000158161	ENST00000373871;ENST00000436342;ENST00000373864;ENST00000540618;ENST00000545175;ENST00000373863	D;D;D;D;D;D	0.93953	-3.04;-3.32;-3.25;-1.68;-1.68;-1.68	5.16	5.16	0.70880	.	0.139272	0.50627	D	0.000120	D	0.92348	0.7572	N	0.24115	0.695	0.58432	D	0.999999	D;D;P	0.58268	0.982;0.969;0.923	P;P;P	0.53401	0.639;0.719;0.725	D	0.93477	0.6824	10	0.66056	D	0.02	-8.962	19.0046	0.92844	0.0:0.0:1.0:0.0	.	210;210;256	B4DIR7;Q8IVX7;Q99504	.;.;EYA3_HUMAN	C	256;130;100;210;203;210	ENSP00000362978:S256C;ENSP00000405587:S130C;ENSP00000362971:S100C;ENSP00000442558:S210C;ENSP00000442280:S203C;ENSP00000362970:S210C	ENSP00000362970:S210C	S	-	2	0	EYA3	28212211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.591000	0.74090	2.569000	0.86673	0.655000	0.94253	TCT		0.468	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	NM_001990		4	110	0	0	0	0	4	110				
MACF1	23499	broad.mit.edu	37	1	39797053	39797053	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:39797053G>A	ENST00000372915.3	+	36	4895	c.4808G>A	c.(4807-4809)gGc>gAc	p.G1603D	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.G1635D|MACF1_ENST00000289893.4_Missense_Mutation_p.G38D|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.G1598D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1603					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGGAGGAGGGCATAGCCAGA	0.537																																						uc010oiu.1		NA																	0				ovary(8)|breast(3)|central_nervous_system(3)|skin(2)	16						c.(112-114)GGC>GAC		microfilament and actin filament cross-linker							79.0	82.0	81.0					1																	39797053		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39797053G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.4808G>A	1.37:g.39797053G>A	ENSP00000362006:p.Gly1603Asp					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron	p.G38D	NM_033044	NP_149033	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	244	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1603			Plectin 1.		B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.113G>A		.	.	.	.	.	.	.	.	.	.	G	11.06	1.527502	0.27299	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.73047	-0.71;-0.71	5.96	5.02	0.67125	.	0.296660	0.29073	N	0.013221	T	0.75700	0.3885	L	0.50333	1.59	0.80722	D	1	D	0.59767	0.986	P	0.54060	0.741	T	0.78221	-0.2288	10	0.87932	D	0	.	16.4749	0.84129	0.0:0.3481:0.6519:0.0	.	1603	Q9UPN3	MACF1_HUMAN	D	1603;38	ENSP00000362006:G1603D;ENSP00000289893:G38D	ENSP00000289893:G38D	G	+	2	0	MACF1	39569640	0.599000	0.26891	0.952000	0.39060	0.659000	0.38960	0.947000	0.29082	2.831000	0.97527	0.650000	0.86243	GGC		0.537	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		4	76	0	0	0	0	4	76				
TTC22	55001	broad.mit.edu	37	1	55266812	55266812	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:55266812C>T	ENST00000371276.4	-	1	128	c.25G>A	c.(25-27)Gac>Aac	p.D9N	TTC22_ENST00000371274.4_Missense_Mutation_p.D9N	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	9										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTAGATCGTCGGCCACAGCC	0.667																																						uc009vzt.1		NA																	0					0						c.(25-27)GAC>AAC		tetratricopeptide repeat domain 22 isoform 1							25.0	23.0	24.0					1																	55266812		2179	4254	6433	SO:0001583	missense	55001						binding	g.chr1:55266812C>T	AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.25G>A	1.37:g.55266812C>T	ENSP00000360323:p.Asp9Asn					TTC22_uc001cxz.3_Missense_Mutation_p.D9N	p.D9N	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN			1	130	-			9					Q9NWT4	Missense_Mutation	SNP	ENST00000371276.4	37	c.25G>A	CCDS44152.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.276437	0.40294	.	.	ENSG00000006555	ENST00000371276;ENST00000371274	T;T	0.44881	0.92;0.91	3.58	3.58	0.41010	.	0.421367	0.25227	N	0.032184	T	0.24005	0.0581	N	0.14661	0.345	0.30647	N	0.755832	B;P	0.38370	0.178;0.628	B;B	0.31245	0.037;0.126	T	0.29212	-1.0019	10	0.52906	T	0.07	-15.5536	13.4777	0.61318	0.0:1.0:0.0:0.0	.	9;9	Q5TAA0;Q5TAA0-2	TTC22_HUMAN;.	N	9	ENSP00000360323:D9N;ENSP00000360321:D9N	ENSP00000360321:D9N	D	-	1	0	TTC22	55039400	0.999000	0.42202	0.147000	0.22382	0.145000	0.21501	5.947000	0.70242	2.279000	0.76181	0.491000	0.48974	GAC		0.667	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027438.1	NM_017904		3	26	0	0	0	0	3	26				
LEPR	3953	broad.mit.edu	37	1	66036308	66036308	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:66036308G>T	ENST00000349533.6	+	4	378	c.193G>T	c.(193-195)Gag>Tag	p.E65*	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Nonsense_Mutation_p.E65*|snoU13_ENST00000459362.1_RNA|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E65*|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E65*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E65*	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGGACATTATGAGACAGCTGT	0.378																																						uc001dci.2		NA																	0				skin(1)	1						c.(193-195)GAG>TAG		leptin receptor isoform 1							125.0	123.0	123.0					1																	66036308		2203	4300	6503	SO:0001587	stop_gained	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036308G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.193G>T	1.37:g.66036308G>T	ENSP00000330393:p.Glu65*					LEPR_uc001dcg.2_Nonsense_Mutation_p.E65*|LEPR_uc001dch.2_Nonsense_Mutation_p.E65*|LEPR_uc009waq.2_Nonsense_Mutation_p.E65*|LEPR_uc001dcj.2_Nonsense_Mutation_p.E65*|LEPR_uc001dck.2_Nonsense_Mutation_p.E65*	p.E65*	NM_002303	NP_002294	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	395	+			65			Extracellular (Potential).		Q6FHL5	Nonsense_Mutation	SNP	ENST00000349533.6	37	c.193G>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.603661	0.87157	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.56	4.6	0.57074	.	0.529823	0.21080	N	0.080507	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.2255	13.2333	0.59955	0.0:0.1739:0.8261:0.0	.	.	.	.	X	65	.	ENSP00000340884:E65X	E	+	1	0	LEPR	65808896	0.116000	0.22171	0.971000	0.41717	0.439000	0.31926	2.467000	0.45093	2.619000	0.88677	0.460000	0.39030	GAG		0.378	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	103	1	0	0.00909568	0.00939203	4	103				
SRSF11	9295	broad.mit.edu	37	1	70716156	70716156	+	Silent	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:70716156A>G	ENST00000370950.3	+	12	1309	c.1227A>G	c.(1225-1227)gaA>gaG	p.E409E	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370949.1_Silent_p.E349E|SRSF11_ENST00000405432.1_Silent_p.E409E|SRSF11_ENST00000370951.1_Silent_p.E409E			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	409					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						aggaCCGGGAAAGAAAATCAG	0.318																																						uc001des.2		NA																	0					0						c.(1225-1227)GAA>GAG		splicing factor, arginine/serine-rich 11							94.0	101.0	98.0					1																	70716156		2203	4299	6502	SO:0001819	synonymous_variant	9295				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:70716156A>G	M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1227A>G	1.37:g.70716156A>G						SFRS11_uc001det.2_Silent_p.E409E|SFRS11_uc001deu.2_Silent_p.E416E|SFRS11_uc001dev.2_Silent_p.E219E|SFRS11_uc001dew.2_Silent_p.E349E	p.E409E	NM_004768	NP_004759	Q05519	SRS11_HUMAN			12	1351	+			409					Q5T758|Q8IWE6	Silent	SNP	ENST00000370950.3	37	c.1227A>G	CCDS647.1																																																																																				0.318	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025889.1	NM_004768		5	60	0	0	0	0	5	60				
SLC44A5	204962	broad.mit.edu	37	1	75683637	75683637	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:75683637G>T	ENST00000370855.5	-	18	1651	c.1538C>A	c.(1537-1539)aCa>aAa	p.T513K	SLC44A5_ENST00000535611.1_Missense_Mutation_p.T383K|SLC44A5_ENST00000370859.3_Missense_Mutation_p.T513K	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	513					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TAGGGATCCTGTGTGATATCT	0.284																																						uc001dgu.2		NA																	0				ovary(2)|skin(2)	4						c.(1537-1539)ACA>AAA		solute carrier family 44, member 5 isoform A							45.0	48.0	47.0					1																	75683637		2203	4299	6502	SO:0001583	missense	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75683637G>T	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1538C>A	1.37:g.75683637G>T	ENSP00000359892:p.Thr513Lys					SLC44A5_uc001dgt.2_Missense_Mutation_p.T513K|SLC44A5_uc001dgs.2_Missense_Mutation_p.T471K|SLC44A5_uc001dgr.2_Missense_Mutation_p.T471K|SLC44A5_uc010oqz.1_Missense_Mutation_p.T552K|SLC44A5_uc010ora.1_Missense_Mutation_p.T507K|SLC44A5_uc010orb.1_Missense_Mutation_p.T383K	p.T513K	NM_152697	NP_689910	Q8NCS7	CTL5_HUMAN			18	1682	-			513			Extracellular (Potential).		B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Missense_Mutation	SNP	ENST00000370855.5	37	c.1538C>A	CCDS667.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958584	0.92726	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	T;T;T	0.23950	1.88;1.88;1.88	5.93	5.93	0.95920	.	0.141101	0.64402	D	0.000004	T	0.52549	0.1741	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D	0.61080	0.969;0.984;0.969;0.989;0.98	P;D;D;D;D	0.72982	0.9;0.979;0.925;0.965;0.965	T	0.56691	-0.7937	10	0.72032	D	0.01	-19.4722	20.3261	0.98701	0.0:0.0:1.0:0.0	.	507;552;513;513;552	B7Z5Y4;B7Z470;Q8NCS7;Q8NCS7-2;F5GYS0	.;.;CTL5_HUMAN;.;.	K	513;552;513;383;506	ENSP00000359896:T513K;ENSP00000359892:T513K;ENSP00000443090:T383K	ENSP00000359892:T513K	T	-	2	0	SLC44A5	75456225	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.441000	0.97557	2.814000	0.96858	0.655000	0.94253	ACA		0.284	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	NM_152697		4	45	1	0	0.00909568	0.00939203	4	45				
LPAR3	23566	broad.mit.edu	37	1	85331150	85331150	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:85331150G>A	ENST00000440886.1	-	1	692	c.654C>T	c.(652-654)aaC>aaT	p.N218N	LPAR3_ENST00000370611.3_Silent_p.N218N|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	218					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAGACAAGACGTTGGTTTTCC	0.512																																						uc001dkl.2		NA																	0				lung(3)|ovary(2)	5						c.(652-654)AAC>AAT		lysophosphatidic acid receptor 3							113.0	92.0	99.0					1																	85331150		2203	4300	6503	SO:0001819	synonymous_variant	23566				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		g.chr1:85331150G>A	AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.654C>T	1.37:g.85331150G>A						LPAR3_uc009wcj.1_Silent_p.N218N	p.N218N	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN			1	693	-			218			Cytoplasmic (Potential).		A0AVA3	Silent	SNP	ENST00000440886.1	37	c.654C>T	CCDS700.1																																																																																				0.512	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027467.1	NM_012152		5	37	0	0	0	0	5	37				
GBP4	115361	broad.mit.edu	37	1	89657032	89657032	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:89657032G>A	ENST00000355754.6	-	6	925	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	276	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTGCATAAGGAAATGCCTTT	0.413																																						uc001dnb.2		NA																	0					0						c.(826-828)TTC>TTT		guanylate binding protein 4							137.0	138.0	138.0					1																	89657032		2203	4300	6503	SO:0001819	synonymous_variant	115361					cytoplasm	GTP binding|GTPase activity	g.chr1:89657032G>A	AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.828C>T	1.37:g.89657032G>A							p.F276F	NM_052941	NP_443173	Q96PP9	GBP4_HUMAN		all cancers(265;0.00723)|Epithelial(280;0.0291)	6	944	-			276					B2R630|Q05D63|Q6NSL0|Q86T99	Silent	SNP	ENST00000355754.6	37	c.828C>T	CCDS721.1																																																																																				0.413	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029409.1	NM_052941		9	87	0	0	0	0	9	87				
LRRC39	127495	broad.mit.edu	37	1	100620742	100620742	+	Missense_Mutation	SNP	G	G	A	rs149823600		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:100620742G>A	ENST00000370137.1	-	8	875	c.677C>T	c.(676-678)aCg>aTg	p.T226M	LRRC39_ENST00000370138.1_Missense_Mutation_p.T226M|LRRC39_ENST00000342895.3_Missense_Mutation_p.T226M	NM_001256386.1|NM_144620.3	NP_001243315.1|NP_653221.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	226										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		CAGCCATAACGTATGTAGATT	0.294																																						uc001dsw.1		NA																	0				ovary(2)|skin(1)	3						c.(676-678)ACG>ATG		leucine rich repeat containing 39		G	MET/THR	2,4404	4.2+/-10.8	0,2,2201	84.0	76.0	78.0		677	5.8	1.0	1	dbSNP_134	78	0,8596		0,0,4298	no	missense	LRRC39	NM_144620.2	81	0,2,6499	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	226/336	100620742	2,13000	2203	4298	6501	SO:0001583	missense	127495							g.chr1:100620742G>A	AK096892	CCDS766.1, CCDS58014.1	1p21.3	2008-02-05			ENSG00000122477	ENSG00000122477			28228	protein-coding gene	gene with protein product						12975309	Standard	NM_001256385		Approved	MGC14816	uc001dsx.2	Q96DD0	OTTHUMG00000010839	ENST00000370137.1:c.677C>T	1.37:g.100620742G>A	ENSP00000359156:p.Thr226Met					LRRC39_uc001dsx.1_Missense_Mutation_p.T226M|LRRC39_uc001dsy.1_Missense_Mutation_p.T226M|LRRC39_uc001dsz.1_Missense_Mutation_p.T226M	p.T226M	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)	8	876	-		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)	226			LRR 7.		B3KUD2|D3DT56|Q5VVK7	Missense_Mutation	SNP	ENST00000370137.1	37	c.677C>T	CCDS766.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320933	0.81580	4.54E-4	0.0	ENSG00000122477	ENST00000370137;ENST00000370138;ENST00000342895;ENST00000370136	T;T;T	0.17213	2.29;2.29;2.29	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000010	T	0.28962	0.0719	L	0.43757	1.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.00824	-1.1551	10	0.49607	T	0.09	.	19.9983	0.97395	0.0:0.0:1.0:0.0	.	226;226	Q96DD0-2;Q96DD0	.;LRC39_HUMAN	M	226	ENSP00000359156:T226M;ENSP00000359157:T226M;ENSP00000344470:T226M	ENSP00000344470:T226M	T	-	2	0	LRRC39	100393330	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	9.082000	0.94059	2.724000	0.93272	0.561000	0.74099	ACG		0.294	LRRC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029917.2	NM_144620		7	29	0	0	0	0	7	29				
KCNA3	3738	broad.mit.edu	37	1	111216896	111216896	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:111216896A>T	ENST00000369769.2	-	1	759	c.536T>A	c.(535-537)aTt>aAt	p.I179N		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	179					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CTCGGAGAAAATGTCGATGGG	0.647																																						uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(535-537)ATT>AAT		potassium voltage-gated channel, shaker-related							60.0	69.0	66.0					1																	111216896		2203	4300	6503	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216896A>T	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.536T>A	1.37:g.111216896A>T	ENSP00000358784:p.Ile179Asn						p.I179N	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	760	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	179					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.536T>A	CCDS828.2	.	.	.	.	.	.	.	.	.	.	A	19.49	3.837182	0.71373	.	.	ENSG00000177272	ENST00000369769	T	0.76448	-1.02	4.8	4.8	0.61643	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.056204	0.64402	U	0.000001	D	0.86176	0.5870	M	0.86573	2.825	0.80722	D	1	D	0.61697	0.99	D	0.66602	0.945	D	0.89151	0.3523	10	0.87932	D	0	.	14.3132	0.66429	1.0:0.0:0.0:0.0	.	179	P22001	KCNA3_HUMAN	N	179	ENSP00000358784:I179N	ENSP00000358784:I179N	I	-	2	0	KCNA3	111018419	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.215000	0.95146	1.792000	0.52537	0.459000	0.35465	ATT		0.647	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		23	98	0	0	0	0	23	98				
FAM46C	54855	broad.mit.edu	37	1	118166445	118166445	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:118166445G>T	ENST00000369448.3	+	2	1202	c.955G>T	c.(955-957)Gtg>Ttg	p.V319L		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	319										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CGAGAGCACCGTGTGTCTCAT	0.537			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)																												uc001ehe.2		NA		Rec	yes		1	1p12	54855		"""family with sequence similarity 46, member C"""			L					0					0						c.(955-957)GTG>TTG		hypothetical protein LOC54855							183.0	146.0	159.0					1																	118166445		2203	4300	6503	SO:0001583	missense	54855							g.chr1:118166445G>T	BC036516	CCDS896.1	1p12	2008-02-05			ENSG00000183508	ENSG00000183508			24712	protein-coding gene	gene with protein product		613952				12477932	Standard	NM_017709		Approved	FLJ20202	uc001ehe.3	Q5VWP2	OTTHUMG00000013703	ENST00000369448.3:c.955G>T	1.37:g.118166445G>T	ENSP00000358458:p.Val319Leu	Multiple Myeloma(3;1.13e-06)					p.V319L	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)	2	1154	+	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)	319					A3KMG2|Q8NE25|Q9NXK0	Missense_Mutation	SNP	ENST00000369448.3	37	c.955G>T	CCDS896.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.629118	0.87560	.	.	ENSG00000183508	ENST00000369448	T	0.35236	1.32	5.7	5.7	0.88788	Domain of unknown function DUF1693 (1);	0.000000	0.64402	D	0.000009	T	0.62011	0.2393	M	0.87038	2.855	0.80722	D	1	D	0.69078	0.997	D	0.78314	0.991	T	0.68074	-0.5505	10	0.87932	D	0	-11.7333	18.8168	0.92079	0.0:0.0:1.0:0.0	.	319	Q5VWP2	FA46C_HUMAN	L	319	ENSP00000358458:V319L	ENSP00000358458:V319L	V	+	1	0	FAM46C	117967968	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.450000	0.97607	2.686000	0.91538	0.655000	0.94253	GTG		0.537	FAM46C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038424.1	NM_017709		12	43	1	0	1.62e-10	1.88e-10	12	43				
YY1AP1	55249	broad.mit.edu	37	1	155640205	155640205	+	Missense_Mutation	SNP	T	T	C	rs201495677		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:155640205T>C	ENST00000295566.4	-	8	855	c.832A>G	c.(832-834)Agc>Ggc	p.S278G	YY1AP1_ENST00000347088.5_Missense_Mutation_p.S212G|YY1AP1_ENST00000404643.1_Missense_Mutation_p.S212G|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Missense_Mutation_p.S201G|YY1AP1_ENST00000535662.1_Missense_Mutation_p.S78G|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000361831.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000368340.5_Missense_Mutation_p.S350G|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000405763.3_Missense_Mutation_p.S350G|YY1AP1_ENST00000359205.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000368339.5_Missense_Mutation_p.S350G|YY1AP1_ENST00000438245.2_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.S212G|YY1AP1_ENST00000311573.5_Missense_Mutation_p.S201G|YY1AP1_ENST00000355499.4_Missense_Mutation_p.S212G	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	278					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAAACCTTGCTTGTGGCCAGG	0.428																																						uc001fln.2		NA																	0				ovary(2)|skin(1)	3						c.(832-834)AGC>GGC		YY1-associated protein isoform 2							109.0	104.0	105.0					1																	155640205		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155640205T>C	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.832A>G	1.37:g.155640205T>C	ENSP00000295566:p.Ser278Gly					YY1AP1_uc001flg.2_5'UTR|YY1AP1_uc010pgg.1_Missense_Mutation_p.S117G|YY1AP1_uc010pgh.1_Missense_Mutation_p.S201G|YY1AP1_uc010pgi.1_Missense_Mutation_p.S350G|YY1AP1_uc001flh.2_Missense_Mutation_p.S350G|YY1AP1_uc009wqt.2_Missense_Mutation_p.S201G|YY1AP1_uc001flk.2_Missense_Mutation_p.S201G|YY1AP1_uc001fll.2_Missense_Mutation_p.S212G|YY1AP1_uc009wqv.2_Intron|YY1AP1_uc001flm.2_Missense_Mutation_p.S201G|YY1AP1_uc001fli.2_Missense_Mutation_p.S212G|YY1AP1_uc009wqu.2_Missense_Mutation_p.S45G|YY1AP1_uc001flj.2_Missense_Mutation_p.S212G|YY1AP1_uc009wqw.2_Missense_Mutation_p.S201G|YY1AP1_uc001flo.2_Missense_Mutation_p.S146G|YY1AP1_uc001flp.2_Missense_Mutation_p.S212G|YY1AP1_uc010pgj.1_Missense_Mutation_p.S278G|YY1AP1_uc009wqx.2_Missense_Mutation_p.S350G|YY1AP1_uc010pgk.1_Intron	p.S278G	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			8	856	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		278					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.832A>G	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	T	14.79	2.640897	0.47153	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662;ENST00000405763;ENST00000443231	T;T;T;T;T;T;T;T;T;T;T;T	0.31769	1.49;1.49;1.65;1.49;1.49;1.63;1.65;1.49;1.65;1.66;1.48;1.69	3.17	3.17	0.36434	.	0.306880	0.33834	N	0.004508	T	0.20861	0.0502	M	0.62723	1.935	0.80722	D	1	B;B;B;P;B;B;B	0.45348	0.363;0.122;0.3;0.856;0.122;0.359;0.4	B;B;B;B;B;B;B	0.44108	0.373;0.04;0.164;0.441;0.04;0.167;0.225	T	0.03249	-1.1056	10	0.52906	T	0.07	.	10.0929	0.42458	0.0:0.0:0.0:1.0	.	278;350;212;350;278;212;350	B4DQQ0;B4DMP2;Q9H869-4;B0QZ55;Q9H869;Q9H869-2;Q5VYZ1	.;.;.;.;YYAP1_HUMAN;.;.	G	201;212;201;212;201;350;278;212;201;212;350;78;350;201	ENSP00000352134:S201G;ENSP00000347686:S212G;ENSP00000311138:S201G;ENSP00000316079:S212G;ENSP00000355298:S201G;ENSP00000357324:S350G;ENSP00000295566:S278G;ENSP00000357314:S212G;ENSP00000385791:S201G;ENSP00000385390:S212G;ENSP00000357323:S350G;ENSP00000437926:S78G	ENSP00000295566:S278G	S	-	1	0	YY1AP1	153906829	0.994000	0.37717	0.995000	0.50966	0.987000	0.75469	2.526000	0.45607	1.434000	0.47414	0.455000	0.32223	AGC		0.428	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		31	60	0	0	0	0	31	60				
KIF14	9928	broad.mit.edu	37	1	200550376	200550376	+	Silent	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:200550376T>C	ENST00000367350.4	-	20	3726	c.3288A>G	c.(3286-3288)gaA>gaG	p.E1096E		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1096	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TAGCATTGGCTTCCTGAATCA	0.328																																						uc010ppk.1		NA																	0				breast(3)|ovary(2)|skin(2)	7						c.(3286-3288)GAA>GAG		kinesin family member 14							102.0	105.0	104.0					1																	200550376		2203	4300	6503	SO:0001819	synonymous_variant	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200550376T>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3288A>G	1.37:g.200550376T>C						KIF14_uc010ppj.1_Silent_p.E605E	p.E1096E	NM_014875	NP_055690	Q15058	KIF14_HUMAN			20	3727	-			1096			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Silent	SNP	ENST00000367350.4	37	c.3288A>G	CCDS30963.1																																																																																				0.328	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		18	75	0	0	0	0	18	75				
AGT	183	broad.mit.edu	37	1	230839947	230839947	+	Missense_Mutation	SNP	C	C	G	rs61751067	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:230839947C>G	ENST00000366667.4	-	4	1475	c.1261G>C	c.(1261-1263)Gtg>Ctg	p.V421L		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	421					activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ACCTCCCCCACCCTGATGCGG	0.582																																						uc001hty.3		NA																	0					0						c.(1261-1263)GTG>CTG		angiotensinogen preproprotein	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)						158.0	122.0	134.0					1																	230839947		2203	4300	6503	SO:0001583	missense	183				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding	g.chr1:230839947C>G	K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.1261G>C	1.37:g.230839947C>G	ENSP00000355627:p.Val421Leu					AGT_uc009xfe.2_Intron|AGT_uc009xff.2_Missense_Mutation_p.V393L	p.V421L	NM_000029	NP_000020	P01019	ANGT_HUMAN		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	4	1769	-	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)	421					Q16358|Q16359|Q96F91	Missense_Mutation	SNP	ENST00000366667.4	37	c.1261G>C	CCDS1585.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.390793	0.25118	.	.	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.85411	-1.98	5.33	4.4	0.53042	Serpin domain (3);	0.178780	0.49305	D	0.000144	D	0.84374	0.5458	M	0.74258	2.255	0.53005	D	0.999969	B;B	0.32245	0.361;0.361	B;B	0.31946	0.138;0.138	T	0.82470	-0.0441	10	0.37606	T	0.19	.	14.5353	0.67955	0.0:0.8522:0.1478:0.0	.	421;421	B0ZBE2;P01019	.;ANGT_HUMAN	L	421;339	ENSP00000355627:V421L	ENSP00000355627:V421L	V	-	1	0	AGT	228906570	0.851000	0.29673	0.332000	0.25469	0.017000	0.09413	2.054000	0.41335	1.208000	0.43306	0.655000	0.94253	GTG		0.582	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092102.1	NM_000029		13	39	0	0	0	0	13	39				
RYR2	6262	broad.mit.edu	37	1	237777871	237777871	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:237777871G>A	ENST00000366574.2	+	37	5760	c.5443G>A	c.(5443-5445)Gaa>Aaa	p.E1815K	RYR2_ENST00000542537.1_Missense_Mutation_p.E1799K|RYR2_ENST00000360064.6_Missense_Mutation_p.E1813K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1815	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGACTACTGAATTCCTCTT	0.483																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5443-5445)GAA>AAA		cardiac muscle ryanodine receptor							192.0	181.0	184.0					1																	237777871		1940	4146	6086	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237777871G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5443G>A	1.37:g.237777871G>A	ENSP00000355533:p.Glu1815Lys						p.E1815K	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5563	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1815			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5443G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.260815	0.80246	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.75367	-0.93;-0.93;-0.93	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000010	T	0.75339	0.3836	M	0.72894	2.215	0.80722	D	1	B	0.31968	0.349	B	0.28553	0.091	T	0.76389	-0.2977	10	0.72032	D	0.01	.	19.6609	0.95871	0.0:0.0:1.0:0.0	.	1815	Q92736	RYR2_HUMAN	K	1815;1813;1799	ENSP00000355533:E1815K;ENSP00000353174:E1813K;ENSP00000443798:E1799K	ENSP00000353174:E1813K	E	+	1	0	RYR2	235844494	1.000000	0.71417	0.334000	0.25495	0.988000	0.76386	9.813000	0.99286	2.665000	0.90641	0.650000	0.86243	GAA		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		26	202	0	0	0	0	26	202				
RYR2	6262	broad.mit.edu	37	1	237947096	237947096	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:237947096G>A	ENST00000366574.2	+	90	12401	c.12084G>A	c.(12082-12084)tcG>tcA	p.S4028S	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Silent_p.S4012S|RYR2_ENST00000360064.6_Silent_p.S4034S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4028					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTTGACGTCGTCTGATACTT	0.423																																						uc001hyl.1		NA																	0				ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(12082-12084)TCG>TCA		cardiac muscle ryanodine receptor							54.0	51.0	52.0					1																	237947096		1857	4105	5962	SO:0001819	synonymous_variant	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237947096G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.12084G>A	1.37:g.237947096G>A						RYR2_uc010pya.1_Silent_p.S443S	p.S4028S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		90	12204	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	4028			EF-hand.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.12084G>A	CCDS55691.1																																																																																				0.423	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		4	19	0	0	0	0	4	19				
CHRM3	1131	broad.mit.edu	37	1	240072485	240072485	+	Silent	SNP	G	G	A	rs200918197		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:240072485G>A	ENST00000255380.4	+	5	2513	c.1734G>A	c.(1732-1734)tcG>tcA	p.S578S		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	578					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGAGACAGTCGGTCATTTTTC	0.488																																						uc001hyp.2		NA																	0				ovary(4)|skin(1)	5						c.(1732-1734)TCG>TCA		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						44.0	45.0	45.0					1																	240072485		2203	4300	6503	SO:0001819	synonymous_variant	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072485G>A	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1734G>A	1.37:g.240072485G>A							p.S578S	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2513	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	578			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Silent	SNP	ENST00000255380.4	37	c.1734G>A	CCDS1616.1																																																																																				0.488	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		9	49	0	0	0	0	9	49				
OR14A16	284532	broad.mit.edu	37	1	247978352	247978352	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:247978352G>A	ENST00000357627.1	-	1	679	c.680C>T	c.(679-681)cCt>cTt	p.P227L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	227						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TTCTGTGGAAGGGATCTTCTT	0.403																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1		NA																	0					0						c.(679-681)CCT>CTT		olfactory receptor, family 14, subfamily A,							104.0	107.0	106.0					1																	247978352		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978352G>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.680C>T	1.37:g.247978352G>A	ENSP00000350248:p.Pro227Leu						p.P227L	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	680	-			227			Cytoplasmic (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.680C>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083323	0.55861	.	.	ENSG00000196772	ENST00000357627	T	0.39229	1.09	3.84	1.89	0.25635	GPCR, rhodopsin-like superfamily (1);	0.153033	0.30060	U	0.010516	T	0.57110	0.2031	M	0.91663	3.23	0.09310	N	1	P	0.37708	0.606	P	0.48571	0.582	T	0.54050	-0.8351	10	0.72032	D	0.01	.	5.8734	0.18816	0.1795:0.0:0.6686:0.1519	.	227	Q8NHC5	O14AG_HUMAN	L	227	ENSP00000350248:P227L	ENSP00000350248:P227L	P	-	2	0	OR14A16	246044975	0.000000	0.05858	0.005000	0.12908	0.292000	0.27327	-1.589000	0.02104	0.854000	0.35336	0.596000	0.82720	CCT		0.403	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		10	54	0	0	0	0	10	54				
MLLT10	8028	broad.mit.edu	37	10	22022748	22022748	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:22022748C>T	ENST00000307729.7	+	20	2726	c.2548C>T	c.(2548-2550)Cca>Tca	p.P850S	MLLT10_ENST00000377072.3_Missense_Mutation_p.P866S|MLLT10_ENST00000446906.2_Missense_Mutation_p.P850S|MLLT10_ENST00000377059.3_Missense_Mutation_p.P850S			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	850					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTTTCTACCCCACCTCCTGC	0.527			T	"""MLL, PICALM, CDK6"""	AL																																	uc001iqs.2		NA		Dom	yes		10	10p12	8028	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""			L	MLL|PICALM|CDK6		AL		0				lung(1)|skin(1)	2						c.(2596-2598)CCA>TCA		myeloid/lymphoid or mixed-lineage leukemia							46.0	47.0	47.0					10																	22022748		2203	4300	6503	SO:0001583	missense	8028				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:22022748C>T	U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2548C>T	10.37:g.22022748C>T	ENSP00000307411:p.Pro850Ser					MLLT10_uc001iqt.2_Missense_Mutation_p.P850S|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.P850S|MLLT10_uc001ira.2_Missense_Mutation_p.P307S|MLLT10_uc001irb.2_RNA	p.P866S	NM_004641	NP_004632	P55197	AF10_HUMAN			21	2944	+			866					B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	ENST00000307729.7	37	c.2596C>T	CCDS55708.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456510	0.63401	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.21191	2.16;2.11;2.02;2.11	4.71	3.81	0.43845	.	0.068523	0.56097	N	0.000022	T	0.41719	0.1171	M	0.68593	2.085	0.58432	D	0.999996	D;D;B;D	0.89917	1.0;1.0;0.096;1.0	D;D;B;D	0.87578	0.998;0.996;0.043;0.996	T	0.15206	-1.0445	10	0.30078	T	0.28	.	12.7731	0.57432	0.0:0.9197:0.0:0.0803	.	545;850;850;866	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	S	866;850;850;685;850	ENSP00000366272:P866S;ENSP00000401406:P850S;ENSP00000307411:P850S;ENSP00000366258:P850S	ENSP00000307411:P850S	P	+	1	0	MLLT10	22062754	1.000000	0.71417	0.946000	0.38457	0.983000	0.72400	6.317000	0.72862	0.978000	0.38470	0.563000	0.77884	CCA		0.527	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047136.1			11	35	0	0	0	0	11	35				
CSGALNACT2	55454	broad.mit.edu	37	10	43678751	43678751	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:43678751C>T	ENST00000374466.3	+	8	1725	c.1390C>T	c.(1390-1392)Cga>Tga	p.R464*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	464					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCATCTTTATCGAAAATACTT	0.438																																						uc001jan.2		NA																	0				ovary(1)	1						c.(1390-1392)CGA>TGA		chondroitin sulfate							145.0	142.0	143.0					10																	43678751		2203	4300	6503	SO:0001587	stop_gained	55454				chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	g.chr10:43678751C>T	AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1390C>T	10.37:g.43678751C>T	ENSP00000363590:p.Arg464*						p.R464*	NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN			8	1725	+			464			Lumenal (Potential).		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	c.1390C>T	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	40	7.973198	0.98588	.	.	ENSG00000169826	ENST00000374466	.	.	.	5.87	3.85	0.44370	.	0.090318	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.9595	9.534	0.39211	0.3459:0.5625:0.0916:0.0	.	.	.	.	X	464	.	ENSP00000363590:R464X	R	+	1	2	CSGALNACT2	42998757	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	2.803000	0.47924	0.845000	0.35118	0.655000	0.94253	CGA		0.438	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		6	132	0	0	0	0	6	132				
PRKG1	5592	broad.mit.edu	37	10	54053631	54053631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:54053631G>C	ENST00000401604.2	+	18	2181	c.1987G>C	c.(1987-1989)Gac>Cac	p.D663H	PRKG1_ENST00000373985.1_Missense_Mutation_p.D651H|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.D381H|PRKG1_ENST00000373980.4_Missense_Mutation_p.D678H|PRKG1-AS1_ENST00000452247.2_RNA			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	663	AGC-kinase C-terminal.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACCACCTGATGACAACTCAGG	0.433																																						uc001jjm.2		NA																	0				lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1)	6						c.(1987-1989)GAC>CAC		protein kinase, cGMP-dependent, type I isoform							160.0	144.0	150.0					10																	54053631		2203	4300	6503	SO:0001583	missense	5592				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	g.chr10:54053631G>C		CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1987G>C	10.37:g.54053631G>C	ENSP00000384200:p.Asp663His					PRKG1_uc001jjo.2_Missense_Mutation_p.D678H|PRKG1_uc009xow.1_Missense_Mutation_p.D381H|uc001jjq.1_Intron	p.D663H	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)	18	2181	+		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)	663			AGC-kinase C-terminal.		A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	ENST00000401604.2	37	c.1987G>C	CCDS44399.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996282	0.74818	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.69926	-0.44;-0.44;-0.43	5.99	5.99	0.97316	AGC-kinase, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.80449	0.4625	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	0.994;0.999;1.0	P;D;D	0.72982	0.873;0.979;0.973	T	0.78917	-0.2015	10	0.52906	T	0.07	-21.0511	20.0728	0.97731	0.0:0.0:1.0:0.0	.	381;678;663	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	H	663;651;678;381;275	ENSP00000384200:D663H;ENSP00000363097:D651H;ENSP00000363092:D678H	ENSP00000327642:D381H	D	+	1	0	PRKG1	53723637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.840000	0.97914	0.655000	0.94253	GAC		0.433	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				8	60	0	0	0	0	8	60				
LRIT2	340745	broad.mit.edu	37	10	85984686	85984686	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:85984686G>T	ENST00000372113.4	-	2	300	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	LRIT2_ENST00000538192.1_Missense_Mutation_p.L99M	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	99						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGGTGTTCCAGGGCTCCTAGG	0.522																																						uc001kcy.2		NA																	0				ovary(2)	2						c.(295-297)CTG>ATG		leucine rich repeat containing 22 precursor							138.0	127.0	131.0					10																	85984686		2203	4300	6503	SO:0001583	missense	340745					integral to membrane		g.chr10:85984686G>T		CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.295C>A	10.37:g.85984686G>T	ENSP00000361185:p.Leu99Met					LRIT2_uc010qmc.1_Missense_Mutation_p.L99M	p.L99M	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN			2	303	-			99			LRR 1.		B7ZME6	Missense_Mutation	SNP	ENST00000372113.4	37	c.295C>A	CCDS31234.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328499	0.41197	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.62105	0.05;0.05	5.47	3.63	0.41609	.	0.000000	0.64402	D	0.000001	T	0.80003	0.4544	M	0.90483	3.12	0.58432	D	0.999991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80030	-0.1553	10	0.62326	D	0.03	.	8.5671	0.33547	0.2387:0.0:0.7613:0.0	.	99;99	B7ZME6;A6NDA9	.;LRIT2_HUMAN	M	99	ENSP00000361185:L99M;ENSP00000438264:L99M	ENSP00000361185:L99M	L	-	1	2	LRIT2	85974666	1.000000	0.71417	1.000000	0.80357	0.326000	0.28443	1.784000	0.38674	0.687000	0.31509	0.650000	0.86243	CTG		0.522	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049110.4	XM_291697		10	136	1	0	2.18e-05	2.39e-05	10	136				
HELLS	3070	broad.mit.edu	37	10	96333910	96333910	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:96333910G>A	ENST00000348459.5	+	8	776	c.671G>A	c.(670-672)cGa>cAa	p.R224Q	HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000371332.4_Missense_Mutation_p.R224Q|HELLS_ENST00000394044.1_Missense_Mutation_p.R224Q|HELLS_ENST00000394045.1_Missense_Mutation_p.R224Q|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2			helicase, lymphoid-specific											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGAGTGATGCGATGGTACCAA	0.393																																						uc001kjt.2		NA																	0				ovary(1)|kidney(1)	2						c.(670-672)CGA>CAA		helicase, lymphoid-specific							119.0	113.0	115.0					10																	96333910		2203	4300	6503	SO:0001583	missense	3070				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity	g.chr10:96333910G>A	AF155827	CCDS7434.1, CCDS73162.1, CCDS73163.1, CCDS73164.1, CCDS73165.1	10q24.2	2008-08-01			ENSG00000119969	ENSG00000119969			4861	protein-coding gene	gene with protein product	"""SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 6"", ""proliferation-associated SNF2-like protein"""	603946				9878251, 10910076	Standard	NM_018063		Approved	PASG, SMARCA6, LSH, Nbla10143	uc001kjt.3	Q9NRZ9	OTTHUMG00000018793	ENST00000348459.5:c.671G>A	10.37:g.96333910G>A	ENSP00000239027:p.Arg224Gln					HELLS_uc001kjs.2_Missense_Mutation_p.R208Q|HELLS_uc009xul.2_Missense_Mutation_p.R224Q|HELLS_uc009xum.2_Missense_Mutation_p.R224Q|HELLS_uc009xun.2_Missense_Mutation_p.R100Q|HELLS_uc009xuo.2_Missense_Mutation_p.R224Q|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.R86Q|HELLS_uc009xur.2_RNA	p.R224Q	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN		all cancers(201;2.13e-05)	8	776	+		Colorectal(252;0.0429)	224						Missense_Mutation	SNP	ENST00000348459.5	37	c.671G>A	CCDS7434.1	.	.	.	.	.	.	.	.	.	.	G	36	5.833298	0.97003	.	.	ENSG00000119969	ENST00000348459;ENST00000394045;ENST00000394044;ENST00000371332	D;D;D;D	0.95205	-3.64;-3.64;-3.64;-3.64	5.82	5.82	0.92795	DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	D	0.95513	0.8542	L	0.34521	1.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.987;0.971;0.996;0.994;0.982	D	0.94460	0.7675	9	.	.	.	-10.7469	19.062	0.93097	0.0:0.0:1.0:0.0	.	208;224;224;224;224	Q9NRZ9-2;Q6I7N8;Q9NRZ9-6;Q9NRZ9-5;Q9NRZ9	.;.;.;.;HELLS_HUMAN	Q	224	ENSP00000239027:R224Q;ENSP00000377609:R224Q;ENSP00000377608:R224Q;ENSP00000360383:R224Q	.	R	+	2	0	HELLS	96323900	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	9.827000	0.99397	2.739000	0.93911	0.650000	0.86243	CGA		0.393	HELLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049475.1	NM_018063		5	92	0	0	0	0	5	92				
CYP2C8	1558	broad.mit.edu	37	10	96827015	96827015	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:96827015C>T	ENST00000371270.3	-	3	525	c.431G>A	c.(430-432)cGt>cAt	p.R144H	CYP2C8_ENST00000535898.1_Missense_Mutation_p.R42H|CYP2C8_ENST00000539050.1_Missense_Mutation_p.R58H	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	144					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	CTCTTGAACACGGTCCTCAAT	0.498																																						uc001kkb.2		NA																	0					0						c.(430-432)CGT>CAT		cytochrome P450, family 2, subfamily C,	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)						231.0	207.0	215.0					10																	96827015		2203	4300	6503	SO:0001583	missense	1558				exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding	g.chr10:96827015C>T	M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.431G>A	10.37:g.96827015C>T	ENSP00000360317:p.Arg144His					CYP2C8_uc001kkc.2_RNA|CYP2C8_uc010qoa.1_Missense_Mutation_p.R74H|CYP2C8_uc010qob.1_Missense_Mutation_p.R58H|CYP2C8_uc010qoc.1_Missense_Mutation_p.R42H|CYP2C8_uc010qod.1_Missense_Mutation_p.R58H	p.R144H	NM_000770	NP_000761	P10632	CP2C8_HUMAN		all cancers(201;6.21e-05)	3	526	-		Colorectal(252;0.0397)	144					A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	Missense_Mutation	SNP	ENST00000371270.3	37	c.431G>A	CCDS7438.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803181	0.70682	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.69926	-0.44;-0.44;-0.44	4.64	3.72	0.42706	.	0.084397	0.49916	U	0.000131	T	0.72011	0.3408	L	0.39898	1.24	0.09310	N	1	D;D;D;D	0.76494	0.999;0.998;0.997;0.995	D;D;D;D	0.66497	0.911;0.944;0.916;0.912	T	0.64317	-0.6436	10	0.72032	D	0.01	.	11.9796	0.53113	0.0:0.913:0.0:0.087	.	58;42;112;144	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	H	144;111;42;58	ENSP00000360317:R144H;ENSP00000445062:R42H;ENSP00000442343:R58H	ENSP00000360317:R144H	R	-	2	0	CYP2C8	96817005	0.007000	0.16637	0.005000	0.12908	0.951000	0.60555	2.316000	0.43761	1.156000	0.42514	0.561000	0.74099	CGT		0.498	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049499.2	NM_000770		41	100	0	0	0	0	41	100				
CFAP58	159686	broad.mit.edu	37	10	106160509	106160509	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:106160509G>C	ENST00000369704.3	+	13	2021	c.1887G>C	c.(1885-1887)gaG>gaC	p.E629D	snoU13_ENST00000458914.1_RNA	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		629						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		TGCTCTATGAGAAGATCAAGA	0.488																																						uc001kyh.2		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1885-1887)GAG>GAC		coiled-coil domain containing 147							148.0	133.0	138.0					10																	106160509		2203	4300	6503	SO:0001583	missense	159686							g.chr10:106160509G>C																												ENST00000369704.3:c.1887G>C	10.37:g.106160509G>C	ENSP00000358718:p.Glu629Asp						p.E629D	NM_001008723	NP_001008723	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	13	2021	+		Colorectal(252;0.103)|Breast(234;0.122)	629					D3DRA6|Q8NA27	Missense_Mutation	SNP	ENST00000369704.3	37	c.1887G>C	CCDS31282.1	.	.	.	.	.	.	.	.	.	.	G	19.73	3.881750	0.72294	.	.	ENSG00000120051	ENST00000369704	T	0.49432	0.78	5.62	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.61751	0.2372	M	0.78049	2.395	0.80722	D	1	D	0.59357	0.985	P	0.57846	0.828	T	0.64728	-0.6339	10	0.49607	T	0.09	-28.9577	10.9191	0.47154	0.2051:0.0:0.7949:0.0	.	629	Q5T655	CC147_HUMAN	D	629	ENSP00000358718:E629D	ENSP00000358718:E629D	E	+	3	2	CCDC147	106150499	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.302000	0.51849	1.384000	0.46424	-0.136000	0.14681	GAG		0.488	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			11	60	0	0	0	0	11	60				
MKI67	4288	broad.mit.edu	37	10	129905202	129905202	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:129905202C>G	ENST00000368654.3	-	13	5277	c.4902G>C	c.(4900-4902)aaG>aaC	p.K1634N	MKI67_ENST00000368653.3_Missense_Mutation_p.K1274N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1634	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCAGGGATGTCTTGAGCCGTC	0.502																																						uc001lke.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4900-4902)AAG>AAC		antigen identified by monoclonal antibody Ki-67							218.0	219.0	219.0					10																	129905202		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905202C>G	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4902G>C	10.37:g.129905202C>G	ENSP00000357643:p.Lys1634Asn					MKI67_uc001lkf.2_Missense_Mutation_p.K1274N|MKI67_uc009yav.1_Missense_Mutation_p.K1209N|MKI67_uc009yaw.1_Missense_Mutation_p.K784N	p.K1634N	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5097	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1634			6.|16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4902G>C	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053250	0.19907	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03635	3.86;3.86	2.75	2.75	0.32379	.	0.737583	0.11166	N	0.592537	T	0.09158	0.0226	L	0.54323	1.7	0.09310	N	1	D;D;D	0.55800	0.961;0.973;0.967	P;P;P	0.57057	0.644;0.742;0.812	T	0.26360	-1.0105	10	0.35671	T	0.21	.	7.5801	0.27959	0.0:0.8709:0.0:0.1291	.	1633;1274;1634	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	1634;1274;1633	ENSP00000357643:K1634N;ENSP00000357642:K1274N	ENSP00000357642:K1274N	K	-	3	2	MKI67	129795192	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.736000	0.26130	1.869000	0.54173	0.563000	0.77884	AAG		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		8	177	0	0	0	0	8	177				
EBF3	253738	broad.mit.edu	37	10	131640443	131640443	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:131640443C>T	ENST00000355311.5	-	13	1381	c.1309G>A	c.(1309-1311)Gtc>Atc	p.V437I	EBF3_ENST00000368648.3_Missense_Mutation_p.V428I|MIR4297_ENST00000579857.1_RNA			Q9H4W6	COE3_HUMAN	early B-cell factor 3	437					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V437I(1)|p.V428I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		AAGGAGTTGACGCCCATCATG	0.627																																						uc001lki.1		NA																	2	Substitution - Missense(2)		large_intestine(2)	central_nervous_system(1)|pancreas(1)	2						c.(1282-1284)GTC>ATC		early B-cell factor 3							270.0	204.0	226.0					10																	131640443		2203	4300	6503	SO:0001583	missense	253738				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	g.chr10:131640443C>T		CCDS31314.1	10q26.3	2007-03-30			ENSG00000108001	ENSG00000108001			19087	protein-coding gene	gene with protein product		607407				12355068	Standard	NM_001005463		Approved	COE3, DKFZp667B0210	uc001lki.2	Q9H4W6	OTTHUMG00000019265	ENST00000355311.5:c.1309G>A	10.37:g.131640443C>T	ENSP00000347463:p.Val437Ile						p.V428I	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.00513)	13	1341	-		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)	437					A0AUY1|Q5T6H9|Q9H4W5	Missense_Mutation	SNP	ENST00000355311.5	37	c.1282G>A		.	.	.	.	.	.	.	.	.	.	C	14.32	2.501566	0.44455	.	.	ENSG00000108001	ENST00000355311;ENST00000368648	T;T	0.39056	1.1;1.1	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.33527	0.0866	L	0.34521	1.04	0.58432	D	0.999999	B	0.09022	0.002	B	0.12837	0.008	T	0.17319	-1.0373	10	0.08599	T	0.76	-17.2848	19.2947	0.94117	0.0:1.0:0.0:0.0	.	428	Q9H4W6-2	.	I	437;428	ENSP00000347463:V437I;ENSP00000357637:V428I	ENSP00000347463:V437I	V	-	1	0	EBF3	131530433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.743000	0.85020	2.632000	0.89209	0.655000	0.94253	GTC		0.627	EBF3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051015.2	NM_001005463		15	102	0	0	0	0	15	102				
MTG1	92170	broad.mit.edu	37	10	135233650	135233650	+	Missense_Mutation	SNP	C	C	T	rs201924847		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr10:135233650C>T	ENST00000317502.6	+	11	1036	c.986C>T	c.(985-987)cCg>cTg	p.P329L	RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.P334L|MTG1_ENST00000477902.2_Missense_Mutation_p.P288L	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	329					GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		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)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		GGCCACCCCCCGGCTGAGACT	0.652																																						uc001lnd.2		NA																	0				skin(1)	1						c.(985-987)CCG>CTG		GTP_binding protein precursor		C	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	58.0		986	0.5	0.0	10		58	2,8598	2.2+/-6.3	0,2,4298	no	missense	MTG1	NM_138384.2	98	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	benign	329/335	135233650	3,13003	2203	4300	6503	SO:0001583	missense	92170					mitochondrion	GTP binding|protein binding	g.chr10:135233650C>T		CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.986C>T	10.37:g.135233650C>T	ENSP00000323047:p.Pro329Leu					MTG1_uc010qve.1_Missense_Mutation_p.P194L	p.P329L	NM_138384	NP_612393	Q9BT17	MTG1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)	11	1090	+		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)	329					Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	c.986C>T	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512882	0.27123	2.27E-4	2.33E-4	ENSG00000254536;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508	T;T;T	0.41400	1.53;1.59;1.0	3.7	0.521	0.17046	.	2.706550	0.01523	N	0.018435	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.12243	-1.0555	10	0.25751	T	0.34	.	2.8115	0.05443	0.221:0.5309:0.0:0.2481	.	278;329	E7EVK2;Q9BT17	.;MTG1_HUMAN	L	334;329;278	ENSP00000436767:P334L;ENSP00000323047:P329L;ENSP00000393480:P278L	ENSP00000323047:P329L	P	+	2	0	AL360181.1;MTG1	135083640	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.415000	0.07106	0.371000	0.24564	-0.245000	0.11935	CCG		0.652	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384		17	61	0	0	0	0	17	61				
MUC2	4583	broad.mit.edu	37	11	1103265	1103265	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:1103265C>T	ENST00000441003.2	+	46	8042	c.8015C>T	c.(8014-8016)tCg>tTg	p.S2672L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5034					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCTCATCTCGTCCGTCTCC	0.592																																						uc001lsx.1		NA																	0				lung(1)|breast(1)	2						c.(15100-15102)TCG>TTG		mucin 2 precursor	Pranlukast(DB01411)						147.0	161.0	156.0					11																	1103265		2126	4225	6351	SO:0001583	missense	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1103265C>T	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.8015C>T	11.37:g.1103265C>T	ENSP00000415183:p.Ser2672Leu						p.S5034L	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	49	15128	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	5034					Q14878	Missense_Mutation	SNP	ENST00000441003.2	37	c.15101C>T		.	.	.	.	.	.	.	.	.	.	C	11.82	1.753870	0.31046	.	.	ENSG00000198788	ENST00000441003	T	0.10288	2.89	3.38	2.35	0.29111	.	.	.	.	.	T	0.08846	0.0219	L	0.28649	0.875	0.20975	N	0.999819	D	0.53312	0.959	B	0.42462	0.388	T	0.28522	-1.0041	9	0.23302	T	0.38	.	12.0922	0.53733	0.0:0.6984:0.3016:0.0	.	2672	E7EUV1	.	L	2672	ENSP00000415183:S2672L	ENSP00000415183:S2672L	S	+	2	0	MUC2	1093265	0.087000	0.21565	0.874000	0.34290	0.919000	0.55068	2.047000	0.41269	1.892000	0.54788	0.561000	0.74099	TCG		0.592	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		4	69	0	0	0	0	4	69				
TAF10	6881	broad.mit.edu	37	11	6632981	6632981	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:6632981T>C	ENST00000299424.4	-	2	778	c.301A>G	c.(301-303)Agc>Ggc	p.S101G	RP11-732A19.2_ENST00000527398.1_RNA|TAF10_ENST00000531760.1_5'UTR	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	101					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTGGCCGCGCTCGGCAGTACG	0.637																																						uc001mej.1		NA																	0					0						c.(301-303)AGC>GGC		TBP-related factor 10							32.0	38.0	36.0					11																	6632981		2201	4296	6497	SO:0001583	missense	6881				histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity	g.chr11:6632981T>C	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402	ENST00000299424.4:c.301A>G	11.37:g.6632981T>C	ENSP00000299424:p.Ser101Gly						p.S101G	NM_006284	NP_006275	Q12962	TAF10_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)	2	326	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)	101					O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	c.301A>G	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	T	13.60	2.285324	0.40394	.	.	ENSG00000166337	ENST00000299424	T	0.46063	0.88	4.74	3.59	0.41128	.	0.159294	0.56097	D	0.000039	T	0.12135	0.0295	N	0.00926	-1.1	0.32412	N	0.550557	B	0.02656	0.0	B	0.04013	0.001	T	0.13282	-1.0515	10	0.17369	T	0.5	-8.4938	4.655	0.12613	0.0:0.2146:0.0:0.7854	.	101	Q12962	TAF10_HUMAN	G	101	ENSP00000299424:S101G	ENSP00000299424:S101G	S	-	1	0	TAF10	6589557	0.994000	0.37717	1.000000	0.80357	0.946000	0.59487	2.865000	0.48412	1.987000	0.57996	0.379000	0.24179	AGC		0.637	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		3	15	0	0	0	0	3	15				
OR10A3	26496	broad.mit.edu	37	11	7960482	7960482	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:7960482C>G	ENST00000360759.3	-	1	659	c.586G>C	c.(586-588)Gaa>Caa	p.E196Q		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	196					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCATAGATTTCAAATAAGAAG	0.418																																						uc010rbi.1		NA																	0				pancreas(1)	1						c.(586-588)GAA>CAA		olfactory receptor, family 10, subfamily A,							90.0	85.0	87.0					11																	7960482		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960482C>G	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.586G>C	11.37:g.7960482C>G	ENSP00000353988:p.Glu196Gln						p.E196Q	NM_001003745	NP_001003745	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	586	-			196			Extracellular (Potential).		B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.586G>C	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986036	0.53934	.	.	ENSG00000170683	ENST00000360759	T	0.00237	8.47	4.95	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	U	0.000913	T	0.00412	0.0013	L	0.59967	1.855	0.23555	N	0.997425	D	0.89917	1.0	D	0.91635	0.999	T	0.57734	-0.7760	10	0.52906	T	0.07	.	11.0873	0.48095	0.0:0.9082:0.0:0.0918	.	196	P58181	O10A3_HUMAN	Q	196	ENSP00000353988:E196Q	ENSP00000353988:E196Q	E	-	1	0	OR10A3	7917058	0.000000	0.05858	1.000000	0.80357	0.546000	0.35178	0.663000	0.25053	2.742000	0.94016	0.650000	0.86243	GAA		0.418	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		9	75	0	0	0	0	9	75				
HPS5	11234	broad.mit.edu	37	11	18318517	18318517	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:18318517G>C	ENST00000349215.3	-	12	1615	c.1338C>G	c.(1336-1338)atC>atG	p.I446M	HPS5_ENST00000438420.2_Missense_Mutation_p.I332M|HPS5_ENST00000396253.3_Missense_Mutation_p.I332M|HPS5_ENST00000531848.1_Missense_Mutation_p.I332M|HPS5_ENST00000352460.3_5'Flank	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	446					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CAGAGTCCAAGATGCTGAAAC	0.343									Hermansky-Pudlak syndrome																													uc001mod.1		NA																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(1336-1338)ATC>ATG		Hermansky-Pudlak syndrome 5 isoform a							55.0	54.0	54.0					11																	18318517		2199	4293	6492	SO:0001583	missense	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18318517G>C	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.1338C>G	11.37:g.18318517G>C	ENSP00000265967:p.Ile446Met					HPS5_uc001moe.1_Missense_Mutation_p.I332M|HPS5_uc001mof.1_Missense_Mutation_p.I332M	p.I446M	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			12	1616	-			446					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Missense_Mutation	SNP	ENST00000349215.3	37	c.1338C>G	CCDS7836.1	.	.	.	.	.	.	.	.	.	.	G	11.60	1.686966	0.29962	.	.	ENSG00000110756	ENST00000396253;ENST00000438420;ENST00000349215;ENST00000531848	T;T;T;T	0.57273	0.41;0.41;0.42;1.45	5.71	2.79	0.32731	.	0.053759	0.64402	D	0.000001	T	0.50820	0.1638	L	0.41236	1.265	0.29531	N	0.852813	D	0.54601	0.967	P	0.57371	0.819	T	0.51076	-0.8751	10	0.66056	D	0.02	.	2.5398	0.04722	0.1353:0.2122:0.4259:0.2266	.	446	Q9UPZ3	HPS5_HUMAN	M	332;332;446;332	ENSP00000379552:I332M;ENSP00000399590:I332M;ENSP00000265967:I446M;ENSP00000431758:I332M	ENSP00000265967:I446M	I	-	3	3	HPS5	18275093	0.972000	0.33761	1.000000	0.80357	0.998000	0.95712	0.105000	0.15333	0.330000	0.23485	0.563000	0.77884	ATC		0.343	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507		8	57	0	0	0	0	8	57				
CCDC34	91057	broad.mit.edu	37	11	27362288	27362288	+	Missense_Mutation	SNP	G	G	A	rs371291657		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:27362288G>A	ENST00000328697.6	-	5	1535	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CCDC34_ENST00000529615.1_5'UTR	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	288										endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						GCAGCTGGACGAGGTTTATGT	0.348																																						uc001mrh.1		NA																	0					0						c.(862-864)CGT>TGT		coiled-coil domain containing 34 isoform 1		G	CYS/ARG	0,4404		0,0,2202	220.0	200.0	207.0		862	5.0	1.0	11		207	1,8597	1.2+/-3.3	0,1,4298	no	missense	CCDC34	NM_030771.1	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	288/374	27362288	1,13001	2202	4299	6501	SO:0001583	missense	91057							g.chr11:27362288G>A	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.862C>T	11.37:g.27362288G>A	ENSP00000330240:p.Arg288Cys						p.R288C	NM_030771	NP_110398	Q96HJ3	CCD34_HUMAN			5	916	-			288					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Missense_Mutation	SNP	ENST00000328697.6	37	c.862C>T	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	G	16.17	3.048804	0.55110	0.0	1.16E-4	ENSG00000109881	ENST00000328697	T	0.25749	1.78	6.07	5.04	0.67666	.	0.139869	0.43747	N	0.000524	T	0.26484	0.0647	L	0.58101	1.795	0.80722	D	1	B	0.30973	0.302	B	0.27170	0.077	T	0.05209	-1.0899	10	0.87932	D	0	0.0813	11.8116	0.52185	0.1035:0.0:0.8965:0.0	.	288	Q96HJ3	CCD34_HUMAN	C	288	ENSP00000330240:R288C	ENSP00000330240:R288C	R	-	1	0	CCDC34	27318864	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.122000	0.50446	1.320000	0.45209	0.655000	0.94253	CGT		0.348	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771		6	88	0	0	0	0	6	88				
NUP160	23279	broad.mit.edu	37	11	47823375	47823375	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:47823375C>A	ENST00000378460.2	-	23	2929	c.2883G>T	c.(2881-2883)caG>caT	p.Q961H	NUP160_ENST00000528071.1_Missense_Mutation_p.Q847H|NUP160_ENST00000530326.1_Missense_Mutation_p.Q847H|RNA5SP340_ENST00000517132.1_RNA	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	961					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TGTCATAATACTGCAGCCTGG	0.423																																						uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2881-2883)CAG>CAT		nucleoporin 160kDa							130.0	114.0	119.0					11																	47823375		2201	4298	6499	SO:0001583	missense	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47823375C>A	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2883G>T	11.37:g.47823375C>A	ENSP00000367721:p.Gln961His					NUP160_uc009ylw.2_RNA	p.Q961H	NM_015231	NP_056046	Q12769	NU160_HUMAN			23	2968	-			961					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Missense_Mutation	SNP	ENST00000378460.2	37	c.2883G>T	CCDS31484.1	.	.	.	.	.	.	.	.	.	.	C	14.50	2.554375	0.45487	.	.	ENSG00000030066	ENST00000378460;ENST00000530326;ENST00000528071	T;T;T	0.42513	1.55;0.97;0.97	5.6	0.58	0.17402	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.39121	-0.9629	10	0.41790	T	0.15	.	8.8394	0.35133	0.0:0.6369:0.0:0.3631	.	961	Q12769	NU160_HUMAN	H	961;847;847	ENSP00000367721:Q961H;ENSP00000433590:Q847H;ENSP00000432367:Q847H	ENSP00000367721:Q961H	Q	-	3	2	NUP160	47779951	0.984000	0.35163	0.995000	0.50966	0.957000	0.61999	0.194000	0.17135	-0.131000	0.11578	0.555000	0.69702	CAG		0.423	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		7	43	1	0	0.00198382	0.00207973	7	43				
FAM111A	63901	broad.mit.edu	37	11	58919457	58919457	+	Missense_Mutation	SNP	A	A	T	rs368439990	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:58919457A>T	ENST00000528737.1	+	5	3134	c.316A>T	c.(316-318)Atg>Ttg	p.M106L	FAM111A_ENST00000420244.1_Missense_Mutation_p.M106L|FAM111A_ENST00000533703.1_Missense_Mutation_p.M106L|FAM111A_ENST00000361723.3_Missense_Mutation_p.M106L|FAM111A_ENST00000531147.1_Missense_Mutation_p.M106L			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	106					defense response to virus (GO:0051607)|DNA replication (GO:0006260)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TAGCTTATATATGGCTCTCAA	0.403																																						uc010rkp.1		NA																	0				ovary(3)	3						c.(316-318)ATG>TTG		hypothetical protein LOC63901							80.0	78.0	79.0					11																	58919457		2201	4295	6496	SO:0001583	missense	63901				proteolysis		serine-type endopeptidase activity	g.chr11:58919457A>T	AK092953	CCDS7973.1	11q12.1	2014-03-13				ENSG00000166801			24725	protein-coding gene	gene with protein product		615292				11572484, 23996431, 23684011	Standard	NM_022074		Approved	FLJ22794, KIAA1895	uc001nnq.3	Q96PZ2		ENST00000528737.1:c.316A>T	11.37:g.58919457A>T	ENSP00000434435:p.Met106Leu					FAM111A_uc010rkq.1_Missense_Mutation_p.M106L|FAM111A_uc010rkr.1_Missense_Mutation_p.M106L|FAM111A_uc001nno.2_Missense_Mutation_p.M106L|FAM111A_uc001nnp.2_Missense_Mutation_p.M106L|FAM111A_uc001nnq.2_Missense_Mutation_p.M106L	p.M106L	NM_001142521	NP_001135993	Q96PZ2	F111A_HUMAN			5	543	+		all_epithelial(135;0.139)	106					A8K5Y8|Q5RKS9|Q5XKM2|Q68DK9|Q6IPR7|Q9H5Y1	Missense_Mutation	SNP	ENST00000528737.1	37	c.316A>T	CCDS7973.1	.	.	.	.	.	.	.	.	.	.	A	8.452	0.853300	0.17106	.	.	ENSG00000166801	ENST00000528737;ENST00000420244;ENST00000361723;ENST00000527629;ENST00000533703;ENST00000531147	T;T;T;T;T;T	0.27256	1.68;1.68;1.68;1.68;1.68;1.68	5.06	-2.83	0.05769	.	1.998650	0.02257	N	0.067217	T	0.19406	0.0466	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.19484	-1.0304	10	0.29301	T	0.29	-6.5823	6.0346	0.19699	0.5539:0.0:0.3139:0.1322	.	106	Q96PZ2	F111A_HUMAN	L	106	ENSP00000434435:M106L;ENSP00000406683:M106L;ENSP00000355264:M106L;ENSP00000436128:M106L;ENSP00000433154:M106L;ENSP00000431631:M106L	ENSP00000355264:M106L	M	+	1	0	FAM111A	58676033	0.000000	0.05858	0.000000	0.03702	0.164000	0.22412	-1.250000	0.02885	-0.260000	0.09418	-0.256000	0.11100	ATG		0.403	FAM111A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393975.1	NM_022074		6	41	0	0	0	0	6	41				
BSCL2	26580	broad.mit.edu	37	11	62458142	62458142	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:62458142C>T	ENST00000403550.1	-	10	1407	c.984G>A	c.(982-984)gaG>gaA	p.E328E	BSCL2_ENST00000360796.5_Silent_p.E392E|BSCL2_ENST00000433053.1_Silent_p.E392E|BSCL2_ENST00000405837.1_Silent_p.E394E|BSCL2_ENST00000421906.1_Silent_p.E328E|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000278893.7_Missense_Mutation_p.R281K|LRRN4CL_ENST00000317449.4_5'Flank|BSCL2_ENST00000407022.3_Silent_p.E328E			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	328					cell death (GO:0008219)|fat cell differentiation (GO:0045444)|lipid catabolic process (GO:0016042)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of lipid catabolic process (GO:0050995)	integral component of endoplasmic reticulum membrane (GO:0030176)				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						GATCTGGTTTCTCCTCCTCGG	0.612																																						uc001nuo.1		NA																	0					0						c.(982-984)GAG>GAA		seipin isoform 2							78.0	74.0	75.0					11																	62458142		2202	4299	6501	SO:0001819	synonymous_variant	26580				cell death	integral to endoplasmic reticulum membrane		g.chr11:62458142C>T		CCDS8031.1, CCDS44627.1, CCDS55769.1	11q13	2014-09-17	2009-07-30		ENSG00000168000	ENSG00000168000			15832	protein-coding gene	gene with protein product		606158	"""spastic paraplegia 17 (Silver syndrome)"""	GNG3LG, SPG17		11479539, 14981520	Standard	NM_001122955		Approved		uc001nur.4	Q96G97	OTTHUMG00000150624	ENST00000403550.1:c.984G>A	11.37:g.62458142C>T						LRRN4CL_uc001nun.2_5'Flank|BSCL2_uc009yoc.1_Missense_Mutation_p.R281K|BSCL2_uc001nup.2_Silent_p.E328E|BSCL2_uc001nuq.1_Silent_p.E328E|BSCL2_uc001nur.3_Silent_p.E392E|BSCL2_uc009yod.2_Silent_p.E392E|BSCL2_uc001nut.3_Silent_p.E394E|HNRNPUL2_uc001nuu.1_RNA	p.E328E	NM_032667	NP_116056	Q96G97	BSCL2_HUMAN			10	1408	-			328			Cytoplasmic (Potential).		G3XAE4|Q567S1|Q96SV1|Q9BSQ0	Silent	SNP	ENST00000403550.1	37	c.984G>A	CCDS8031.1	.	.	.	.	.	.	.	.	.	.	C	16.67	3.188055	0.57909	.	.	ENSG00000168000	ENST00000278893	D	0.90197	-2.63	4.87	2.78	0.32641	.	.	.	.	.	D	0.84515	0.5489	.	.	.	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.80888	-0.1181	8	0.87932	D	0	-11.9047	5.0895	0.14700	0.0:0.6652:0.217:0.1178	.	281	Q96G97-3	.	K	281	ENSP00000278893:R281K	ENSP00000278893:R281K	R	-	2	0	BSCL2	62214718	0.914000	0.31030	0.985000	0.45067	0.991000	0.79684	0.115000	0.15540	1.220000	0.43490	0.561000	0.74099	AGA		0.612	BSCL2-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000319185.1	NM_032667		5	119	0	0	0	0	5	119				
PITPNM1	9600	broad.mit.edu	37	11	67262617	67262617	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:67262617G>A	ENST00000534749.1	-	16	2750	c.2562C>T	c.(2560-2562)gtC>gtT	p.V854V	PITPNM1_ENST00000436757.2_Silent_p.V853V|PITPNM1_ENST00000356404.3_Silent_p.V854V|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	854	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGCAGCGTGACGGTGGGAA	0.667																																					GBM(28;144 709 4607 5525)	uc001olx.2		NA																	0				lung(2)|central_nervous_system(1)	3						c.(2560-2562)GTC>GTT		phosphatidylinositol transfer protein,							65.0	71.0	69.0					11																	67262617		2200	4295	6495	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262617G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2562C>T	11.37:g.67262617G>A						PITPNM1_uc001olw.2_Silent_p.V136V|PITPNM1_uc001oly.2_Silent_p.V854V|PITPNM1_uc001olz.2_Silent_p.V853V	p.V854V	NM_004910	NP_004901	O00562	PITM1_HUMAN			16	2751	-			854			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2562C>T	CCDS31620.1																																																																																				0.667	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		4	56	0	0	0	0	4	56				
PDE2A	5138	broad.mit.edu	37	11	72292985	72292985	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:72292985G>A	ENST00000334456.5	-	22	2103	c.1858C>T	c.(1858-1860)Ctg>Ttg	p.L620L	PDE2A_ENST00000540345.1_Silent_p.L611L|PDE2A_ENST00000544570.1_Silent_p.L613L|RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000418754.2_Silent_p.L505L|PDE2A_ENST00000444035.2_Silent_p.L611L|PDE2A_ENST00000376450.3_Silent_p.L364L	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	620					blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to drug (GO:0035690)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to mechanical stimulus (GO:0071260)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP catabolic process (GO:0046069)|cGMP-mediated signaling (GO:0019934)|establishment of endothelial barrier (GO:0061028)|metabolic process (GO:0008152)|monocyte differentiation (GO:0030224)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vascular permeability (GO:0043116)|positive regulation of inflammatory response (GO:0050729)|positive regulation of vascular permeability (GO:0043117)|protein targeting to mitochondrion (GO:0006626)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel activity (GO:0005262)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|drug binding (GO:0008144)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Caffeine(DB00201)|Tofisopam(DB08811)	AGCATGCTCAGGATGGCCTGG	0.577																																						uc010rrc.1		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(1858-1860)CTG>TTG		phosphodiesterase 2A isoform 1	Sildenafil(DB00203)|Sulindac(DB00605)						62.0	64.0	63.0					11																	72292985		2200	4293	6493	SO:0001819	synonymous_variant	5138				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr11:72292985G>A	U67733	CCDS8216.1, CCDS44670.1, CCDS53678.1, CCDS73345.1	11q13.1-q14.1	2008-05-14			ENSG00000186642	ENSG00000186642	3.1.4.17	"""Phosphodiesterases"""	8777	protein-coding gene	gene with protein product		602658				9210593	Standard	NM_002599		Approved		uc010rrc.2	O00408	OTTHUMG00000102045	ENST00000334456.5:c.1858C>T	11.37:g.72292985G>A						PDE2A_uc001oso.2_Silent_p.L599L|PDE2A_uc010rra.1_Silent_p.L613L|PDE2A_uc001osn.2_Silent_p.L364L|PDE2A_uc010rrb.1_Silent_p.L611L|PDE2A_uc010rrd.1_Silent_p.L505L	p.L620L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		22	2101	-			620					B2R646|B3KRV5|E9PGI1|F6W5Z0|Q5J791|Q5J792|Q5J793|Q6ZMR1	Silent	SNP	ENST00000334456.5	37	c.1858C>T	CCDS8216.1																																																																																				0.577	PDE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219839.2	NM_002599		8	89	0	0	0	0	8	89				
DLG2	1740	broad.mit.edu	37	11	83585526	83585526	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:83585526G>A	ENST00000532653.1	-	11	1489	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DLG2_ENST00000531015.1_Missense_Mutation_p.S363F|DLG2_ENST00000398309.2_Missense_Mutation_p.S396F|DLG2_ENST00000330014.6_Missense_Mutation_p.S335F|DLG2_ENST00000524982.1_Missense_Mutation_p.S396F|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000280241.8_Missense_Mutation_p.S435F|DLG2_ENST00000376104.2_Missense_Mutation_p.S501F|DLG2_ENST00000543673.1_Missense_Mutation_p.S501F|DLG2_ENST00000418306.2_Missense_Mutation_p.S293F|DLG2_ENST00000398301.2_Missense_Mutation_p.S435F|DLG2_ENST00000537455.1_Missense_Mutation_p.S150F			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GCTATGTTGGGAATGACTGCA	0.368																																						uc001paj.2		NA																	0				ovary(3)|pancreas(2)|skin(1)	6						c.(1186-1188)TCC>TTC		chapsyn-110 isoform 2							105.0	101.0	102.0					11																	83585526		1897	4101	5998	SO:0001583	missense	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding|protein binding	g.chr11:83585526G>A	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.1187C>T	11.37:g.83585526G>A	ENSP00000435849:p.Ser396Phe					DLG2_uc001pai.2_Missense_Mutation_p.S293F|DLG2_uc010rsy.1_Missense_Mutation_p.S363F|DLG2_uc010rsz.1_Missense_Mutation_p.S396F|DLG2_uc010rta.1_Missense_Mutation_p.S396F|DLG2_uc001pak.2_Missense_Mutation_p.S501F|DLG2_uc010rtb.1_Missense_Mutation_p.S363F|DLG2_uc001pal.1_Missense_Mutation_p.S396F|DLG2_uc001pam.1_Missense_Mutation_p.S435F	p.S396F	NM_001364	NP_001355	Q15700	DLG2_HUMAN			11	1490	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	396					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37	c.1187C>T		.	.	.	.	.	.	.	.	.	.	G	15.32	2.799298	0.50208	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000537455;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301	T;T;T;T;T;T;T;T;T;T;T	0.22539	2.49;2.49;2.32;2.49;2.44;2.4;2.26;2.49;2.44;2.29;1.95	5.56	5.56	0.83823	PDZ/DHR/GLGF (1);	0.312522	0.23861	N	0.043849	T	0.30792	0.0776	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B;B;P	0.42518	0.0;0.001;0.001;0.0;0.002;0.001;0.0;0.782	B;B;B;B;B;B;B;D	0.63703	0.0;0.001;0.001;0.0;0.001;0.002;0.0;0.917	T	0.03503	-1.1030	9	.	.	.	.	15.0198	0.71621	0.0:0.0:1.0:0.0	.	363;396;396;335;435;501;396;293	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	F	396;501;293;501;435;335;150;396;396;501;363;435	ENSP00000381355:S396F;ENSP00000365272:S501F;ENSP00000402275:S293F;ENSP00000441994:S501F;ENSP00000280241:S435F;ENSP00000381353:S335F;ENSP00000443248:S150F;ENSP00000432894:S396F;ENSP00000435849:S396F;ENSP00000433848:S363F;ENSP00000381346:S435F	.	S	-	2	0	DLG2	83263174	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.129000	0.64739	2.608000	0.88229	0.561000	0.74099	TCC		0.368	DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364		9	32	0	0	0	0	9	32				
FAT3	120114	broad.mit.edu	37	11	92577460	92577460	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:92577460G>A	ENST00000298047.6	+	18	10944	c.10927G>A	c.(10927-10929)Gag>Aag	p.E3643K	FAT3_ENST00000525166.1_Missense_Mutation_p.E3493K|FAT3_ENST00000409404.2_Missense_Mutation_p.E3643K|FAT3_ENST00000533797.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3643	Cadherin 33. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTTGGTGCATGAGATGCTGCA	0.562										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(10927-10929)GAG>AAG		FAT tumor suppressor homolog 3							108.0	113.0	111.0					11																	92577460		2173	4278	6451	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92577460G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.10927G>A	11.37:g.92577460G>A	ENSP00000298047:p.Glu3643Lys	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.E83K	p.E3643K	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			18	10944	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3643			Cadherin 33.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.10927G>A		.	.	.	.	.	.	.	.	.	.	G	29.8	5.039564	0.93630	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.09445	2.98;2.98;2.98	5.82	5.82	0.92795	Cadherin (1);	.	.	.	.	T	0.27241	0.0668	M	0.69823	2.125	0.80722	D	1	D;B	0.53745	0.962;0.269	P;B	0.52481	0.7;0.097	T	0.00164	-1.1968	9	0.45353	T	0.12	.	20.093	0.97828	0.0:0.0:1.0:0.0	.	3643;3643	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	K	3643;3643;3493	ENSP00000298047:E3643K;ENSP00000387040:E3643K;ENSP00000432586:E3493K	ENSP00000298047:E3643K	E	+	1	0	FAT3	92217108	1.000000	0.71417	0.970000	0.41538	0.937000	0.57800	9.787000	0.99055	2.756000	0.94617	0.561000	0.74099	GAG		0.562	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		9	102	0	0	0	0	9	102				
SPATA19	219938	broad.mit.edu	37	11	133712445	133712445	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:133712445G>A	ENST00000299140.3	-	5	426	c.372C>T	c.(370-372)atC>atT	p.I124I	SPATA19_ENST00000532889.1_Silent_p.I124I	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	124					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCACTTGGAAGATACGAGTGT	0.468																																						uc001qgv.1		NA																	0					0						c.(370-372)ATC>ATT		spermatogenesis associated 19 precursor							234.0	183.0	200.0					11																	133712445		2201	4297	6498	SO:0001819	synonymous_variant	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133712445G>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.372C>T	11.37:g.133712445G>A							p.I124I	NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	5	423	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	124					Q8N7A9	Silent	SNP	ENST00000299140.3	37	c.372C>T	CCDS8493.1																																																																																				0.468	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		5	61	0	0	0	0	5	61				
WNK1	65125	broad.mit.edu	37	12	988982	988982	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:988982C>T	ENST00000315939.6	+	11	3260	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Silent_p.L466L|WNK1_ENST00000530271.2_Silent_p.L1371L|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	873					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TACTCAGCCTCTGCTCACGTT	0.532																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NA																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(2617-2619)CTG>TTG		WNK lysine deficient protein kinase 1							157.0	131.0	140.0					12																	988982		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:988982C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2617C>T	12.37:g.988982C>T						WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.L873L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3124	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		873					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.2617C>T	CCDS8506.1																																																																																				0.532	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		18	76	0	0	0	0	18	76				
CD163	9332	broad.mit.edu	37	12	7653982	7653982	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:7653982C>T	ENST00000359156.4	-	3	412	c.210G>A	c.(208-210)gaG>gaA	p.E70E	CD163_ENST00000541972.1_Silent_p.E58E|CD163_ENST00000432237.2_Silent_p.E70E|CD163_ENST00000396620.3_Silent_p.E70E	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	70	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	TTCCCCACTCCTCCTGGACTT	0.507																																						uc001qsz.3		NA																	0				ovary(6)|pancreas(1)|skin(1)	8						c.(208-210)GAG>GAA		CD163 antigen isoform a							169.0	155.0	160.0					12																	7653982		2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7653982C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.210G>A	12.37:g.7653982C>T						CD163_uc001qta.3_Silent_p.E70E|CD163_uc009zfw.2_Silent_p.E70E	p.E70E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			3	338	-			70			SRCR 1.|Extracellular (Potential).		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.210G>A	CCDS8578.1																																																																																				0.507	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	60	0	0	0	0	10	60				
A2ML1	144568	broad.mit.edu	37	12	9001323	9001323	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:9001323G>A	ENST00000299698.7	+	16	2021	c.1841G>A	c.(1840-1842)gGg>gAg	p.G614E	A2ML1_ENST00000539547.1_Missense_Mutation_p.G123E|A2ML1_ENST00000540049.1_3'UTR	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271			alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CAGGTCTATGGGATGTTTCCA	0.473																																						uc001quz.3		NA																	0				ovary(2)|skin(1)	3						c.(1840-1842)GGG>GAG		alpha-2-macroglobulin-like 1 precursor							134.0	125.0	128.0					12																	9001323		1931	4147	6078	SO:0001583	missense	144568					extracellular space	endopeptidase inhibitor activity	g.chr12:9001323G>A	AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000299698.7:c.1841G>A	12.37:g.9001323G>A	ENSP00000299698:p.Gly614Glu					A2ML1_uc001qva.1_Missense_Mutation_p.G194E|A2ML1_uc010sgm.1_Missense_Mutation_p.G114E	p.G614E	NM_144670	NP_653271	A8K2U0	A2ML1_HUMAN			16	1939	+			458						Missense_Mutation	SNP	ENST00000299698.7	37	c.1841G>A	CCDS8596.2	.	.	.	.	.	.	.	.	.	.	G	9.845	1.192214	0.21954	.	.	ENSG00000166535	ENST00000299698;ENST00000539161;ENST00000541459;ENST00000539547;ENST00000545692	T;T;T;T	0.29917	1.64;1.75;2.3;1.55	2.82	1.92	0.25849	.	.	.	.	.	T	0.18215	0.0437	L	0.34521	1.04	0.21984	N	0.999434	B	0.29936	0.262	B	0.28991	0.097	T	0.25779	-1.0122	9	0.09590	T	0.72	.	6.0405	0.19732	0.1463:0.0:0.8537:0.0	.	614	A8K2U0	A2ML1_HUMAN	E	614;614;164;123;126	ENSP00000299698:G614E;ENSP00000443174:G164E;ENSP00000438292:G123E;ENSP00000440057:G126E	ENSP00000299698:G614E	G	+	2	0	A2ML1	8892590	0.941000	0.31946	0.827000	0.32855	0.745000	0.42441	0.458000	0.21892	0.764000	0.33197	0.456000	0.33151	GGG		0.473	A2ML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250304.3	NM_144670		19	112	0	0	0	0	19	112				
GRIN2B	2904	broad.mit.edu	37	12	13716470	13716470	+	Silent	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:13716470C>A	ENST00000609686.1	-	13	3911	c.3702G>T	c.(3700-3702)tcG>tcT	p.S1234S		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1234					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S1234S(3)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCTGCCTGCCCGAGTTCTGAC	0.617																																						uc001rbt.2		NA																	3	Substitution - coding silent(3)		lung(2)|upper_aerodigestive_tract(1)	central_nervous_system(4)|ovary(3)|skin(3)|lung(2)	12						c.(3700-3702)TCG>TCT		N-methyl-D-aspartate receptor subunit 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						70.0	74.0	73.0					12																	13716470		2203	4300	6503	SO:0001819	synonymous_variant	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13716470C>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.3702G>T	12.37:g.13716470C>A							p.S1234S	NM_000834	NP_000825	Q13224	NMDE2_HUMAN			13	3881	-			1234			Cytoplasmic (Potential).		Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Silent	SNP	ENST00000609686.1	37	c.3702G>T	CCDS8662.1																																																																																				0.617	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			5	55	1	0	3.6e-05	3.93e-05	5	55				
MGP	4256	broad.mit.edu	37	12	15035947	15035947	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:15035947G>A	ENST00000539261.1	-	3	263	c.129C>T	c.(127-129)ttC>ttT	p.F43F	C12orf60_ENST00000527783.1_Intron|MGP_ENST00000228938.5_Silent_p.F68F	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	43					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|ossification (GO:0001503)|regulation of bone mineralization (GO:0030500)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|structural constituent of bone (GO:0008147)			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						GAGGGGATATGAAGGTATTTG	0.383																																						uc001rcn.1		NA																	0				ovary(1)	1						c.(127-129)TTC>TTT		matrix Gla protein precursor							147.0	123.0	131.0					12																	15035947		2203	4300	6503	SO:0001819	synonymous_variant	4256				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone	g.chr12:15035947G>A	M58549	CCDS8669.1, CCDS53752.1	12p12.3	2006-12-15			ENSG00000111341	ENSG00000111341			7060	protein-coding gene	gene with protein product		154870				2394711	Standard	NM_000900		Approved		uc021qvr.1	P08493	OTTHUMG00000168740	ENST00000539261.1:c.129C>T	12.37:g.15035947G>A							p.F43F	NM_000900	NP_000891	P08493	MGP_HUMAN			3	232	-			43					A0M8W5|B2R519|J3KMX7|Q2TU41|Q567P9|Q6ICN5	Silent	SNP	ENST00000539261.1	37	c.129C>T	CCDS8669.1																																																																																				0.383	MGP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400864.1	NM_000900		7	60	0	0	0	0	7	60				
LRRK2	120892	broad.mit.edu	37	12	40643742	40643742	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:40643742T>A	ENST00000298910.7	+	8	1011	c.953T>A	c.(952-954)cTc>cAc	p.L318H	LRRK2_ENST00000343742.2_Missense_Mutation_p.L318H	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	318					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TGTTTGGCCCTCCTCAGTAAG	0.423																																						uc001rmg.3		NA																	0				ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24						c.(952-954)CTC>CAC		leucine-rich repeat kinase 2							75.0	67.0	70.0					12																	40643742		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40643742T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.953T>A	12.37:g.40643742T>A	ENSP00000298910:p.Leu318His					LRRK2_uc001rmh.1_5'Flank	p.L318H	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			8	1074	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	318					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.953T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	18.52	3.642308	0.67244	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.65364	-0.15;1.33;1.33	5.56	5.56	0.83823	Armadillo-like helical (1);Armadillo-type fold (1);	0.242143	0.35207	N	0.003378	T	0.73528	0.3598	L	0.54323	1.7	0.44227	D	0.997065	D	0.76494	0.999	D	0.64687	0.928	T	0.75797	-0.3191	10	0.62326	D	0.03	.	14.75	0.69519	0.0:0.0:0.0:1.0	.	318	Q5S007	LRRK2_HUMAN	H	202;318;318	ENSP00000398726:L202H;ENSP00000341930:L318H;ENSP00000298910:L318H	ENSP00000298910:L318H	L	+	2	0	LRRK2	38930009	0.996000	0.38824	0.990000	0.47175	0.616000	0.37450	3.813000	0.55636	2.123000	0.65237	0.456000	0.33151	CTC		0.423	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		3	28	0	0	0	0	3	28				
PDZRN4	29951	broad.mit.edu	37	12	41967396	41967396	+	Missense_Mutation	SNP	C	C	T	rs144265671		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:41967396C>T	ENST00000402685.2	+	10	2823	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	PDZRN4_ENST00000298919.7_Missense_Mutation_p.R679C|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R681C	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	939							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R681C(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GAAAATGGGGCGCTACTGGAG	0.542																																						uc010skn.1		NA																	1	Substitution - Missense(1)	p.R681C(1)	skin(1)	lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1)	11						c.(2218-2220)CGC>TGC		PDZ domain containing RING finger 4 isoform 2							92.0	88.0	89.0					12																	41967396		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41967396C>T	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2815C>T	12.37:g.41967396C>T	ENSP00000384197:p.Arg939Cys					PDZRN4_uc001rmq.3_Missense_Mutation_p.R681C|PDZRN4_uc009zjz.2_Missense_Mutation_p.R679C|PDZRN4_uc001rmr.2_Missense_Mutation_p.R566C	p.R740C	NM_013377	NP_037509	Q6ZMN7	PZRN4_HUMAN			10	2286	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	939					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.2218C>T	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	C	18.99	3.739154	0.69304	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.50001	0.76;0.76;0.76	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.86178	2.8	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.77574	-0.2537	10	0.87932	D	0	-33.3157	19.7189	0.96135	0.0:1.0:0.0:0.0	.	939;679;681	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	C	939;681;679	ENSP00000384197:R939C;ENSP00000439990:R681C;ENSP00000298919:R679C	ENSP00000298919:R679C	R	+	1	0	PDZRN4	40253663	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.829000	0.62737	2.834000	0.97654	0.650000	0.86243	CGC		0.542	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		9	31	0	0	0	0	9	31				
CACNB3	784	broad.mit.edu	37	12	49221458	49221458	+	Missense_Mutation	SNP	C	C	T	rs146819236		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:49221458C>T	ENST00000301050.2	+	13	1430	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	CACNB3_ENST00000547230.1_Missense_Mutation_p.R370C|CACNB3_ENST00000536187.2_Missense_Mutation_p.R410C|CACNB3_ENST00000547392.1_Missense_Mutation_p.R384C|CACNB3_ENST00000540990.1_Missense_Mutation_p.R398C	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	411					axon guidance (GO:0007411)|calcium ion transport (GO:0006816)|membrane depolarization (GO:0051899)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|membrane (GO:0016020)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAGAGCTCCCGCCAAGCCTG	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15913	0.0		0.0	False		,,,				2504	0.0					uc001rsl.1		NA																	0					0						c.(1231-1233)CGC>TGC		calcium channel, voltage-dependent, beta 3	Verapamil(DB00661)	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	58.0	52.0	54.0		1231,1108,1228,1192	4.6	1.0	12	dbSNP_134	54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	CACNB3	NM_000725.3,NM_001206915.1,NM_001206916.1,NM_001206917.1	180,180,180,180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	411/485,370/444,410/484,398/472	49221458	1,13005	2203	4300	6503	SO:0001583	missense	784				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr12:49221458C>T		CCDS8769.1, CCDS55821.1, CCDS55822.1, CCDS55823.1	12q13	2008-05-02				ENSG00000167535		"""Calcium channel subunits"""	1403	protein-coding gene	gene with protein product		601958		CACNLB3		8119293	Standard	NM_000725		Approved		uc010sly.2	P54284		ENST00000301050.2:c.1231C>T	12.37:g.49221458C>T	ENSP00000301050:p.Arg411Cys					CACNB3_uc010sly.1_Missense_Mutation_p.R398C|CACNB3_uc010slz.1_Missense_Mutation_p.R410C|CACNB3_uc001rsk.1_Missense_Mutation_p.R258C	p.R411C	NM_000725	NP_000716	P54284	CACB3_HUMAN			13	1432	+			411					A8K0Z4|B7Z4Q1|B7Z973|B7ZAK8|F5GZW7|F5H2P6|F8VSG3|Q13913	Missense_Mutation	SNP	ENST00000301050.2	37	c.1231C>T	CCDS8769.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	19.55	3.849190	0.71603	0.0	1.16E-4	ENSG00000167535	ENST00000540990;ENST00000536187;ENST00000547392;ENST00000301050;ENST00000547230	T;T;T;T;T	0.74526	-0.82;-0.82;-0.85;-0.82;-0.23	5.53	4.62	0.57501	.	0.330741	0.31335	N	0.007822	T	0.66406	0.2786	L	0.34521	1.04	0.51482	D	0.999922	D;P;P;P	0.56521	0.976;0.955;0.925;0.733	B;B;B;B	0.43783	0.431;0.339;0.183;0.12	T	0.72007	-0.4420	10	0.87932	D	0	-12.3031	13.9291	0.63983	0.0:0.9238:0.0:0.0762	.	410;398;411;398	F5GZW7;F5H2P6;P54284;B7Z973	.;.;CACB3_HUMAN;.	C	398;410;384;411;370	ENSP00000445495:R398C;ENSP00000444160:R410C;ENSP00000446529:R384C;ENSP00000301050:R411C;ENSP00000448304:R370C	ENSP00000301050:R411C	R	+	1	0	CACNB3	47507725	0.031000	0.19500	1.000000	0.80357	0.992000	0.81027	1.674000	0.37544	2.876000	0.98609	0.655000	0.94253	CGC		0.647	CACNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408886.1			7	41	0	0	0	0	7	41				
TROAP	10024	broad.mit.edu	37	12	49721061	49721061	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:49721061G>A	ENST00000257909.3	+	8	915	c.839G>A	c.(838-840)gGt>gAt	p.G280D	RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000547923.1_5'UTR|TROAP_ENST00000551245.1_Missense_Mutation_p.G280D	NM_005480.3	NP_005471.3	Q12815	TROAP_HUMAN	trophinin associated protein	280					cell adhesion (GO:0007155)	cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTCTCTTGGTCTGGCCCAG	0.512																																						uc001rtx.3		NA																	0				ovary(1)	1						c.(838-840)GGT>GAT		tastin isoform 1							132.0	116.0	121.0					12																	49721061		2203	4300	6503	SO:0001583	missense	10024				cell adhesion	cytoplasm		g.chr12:49721061G>A	U04810	CCDS8784.1, CCDS41779.1, CCDS61117.1	12q13.12	2012-10-17	2012-10-17		ENSG00000135451	ENSG00000135451			12327	protein-coding gene	gene with protein product	"""tastin"""	603872				7758945	Standard	NM_005480		Approved	TASTIN	uc001rtx.4	Q12815	OTTHUMG00000169486	ENST00000257909.3:c.839G>A	12.37:g.49721061G>A	ENSP00000257909:p.Gly280Asp					TROAP_uc009zlh.2_Missense_Mutation_p.G280D|TROAP_uc001rty.2_5'UTR	p.G280D	NM_005480	NP_005471	Q12815	TROAP_HUMAN			8	1006	+			280					F8VSF9|Q6PJU7|Q8N5B2	Missense_Mutation	SNP	ENST00000257909.3	37	c.839G>A	CCDS8784.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945119	0.73672	.	.	ENSG00000135451	ENST00000551245;ENST00000550346;ENST00000257909;ENST00000547807	.	.	.	5.13	4.22	0.49857	.	0.221418	0.31450	N	0.007640	T	0.66557	0.2801	L	0.47190	1.495	0.80722	D	1	D;D	0.63046	0.992;0.992	D;D	0.65573	0.936;0.936	T	0.69015	-0.5257	9	0.72032	D	0.01	-3.2989	11.4982	0.50422	0.0:0.0:0.8201:0.1799	.	280;280	F8W130;Q12815	.;TROAP_HUMAN	D	280;163;280;274	.	ENSP00000257909:G280D	G	+	2	0	TROAP	48007328	1.000000	0.71417	0.745000	0.31077	0.992000	0.81027	4.350000	0.59392	1.434000	0.47414	0.655000	0.94253	GGT		0.512	TROAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404300.1	NM_005480		12	61	0	0	0	0	12	61				
KRT73	319101	broad.mit.edu	37	12	53012018	53012018	+	Silent	SNP	C	C	T	rs142655706	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:53012018C>T	ENST00000305748.3	-	1	325	c.291G>A	c.(289-291)tcG>tcA	p.S97S	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	97	Gly-rich.|Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGGCACAACGACGGACACA	0.637																																						uc001sas.2		NA																	0				large_intestine(2)|ovary(2)|skin(2)	6						c.(289-291)TCG>TCA		keratin 73		C		7,4399	12.9+/-30.5	0,7,2196	113.0	120.0	118.0		291	-9.3	0.0	12	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	KRT73	NM_175068.2		0,7,6496	TT,TC,CC		0.0,0.1589,0.0538		97/541	53012018	7,12999	2203	4300	6503	SO:0001819	synonymous_variant	319101					keratin filament	structural molecule activity	g.chr12:53012018C>T	AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.291G>A	12.37:g.53012018C>T							p.S97S	NM_175068	NP_778238	Q86Y46	K2C73_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	326	-			97			Head.|Gly-rich.		Q32MB2	Silent	SNP	ENST00000305748.3	37	c.291G>A	CCDS8834.1																																																																																				0.637	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405700.1	NM_175068		12	111	0	0	0	0	12	111				
PTPRB	5787	broad.mit.edu	37	12	70929923	70929923	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:70929923C>A	ENST00000261266.5	-	27	5338	c.5309G>T	c.(5308-5310)aGa>aTa	p.R1770I	PTPRB_ENST00000550857.1_Missense_Mutation_p.R1680I|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|RP11-588H23.3_ENST00000551438.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.R1988I|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.R1680I|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1680I|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1900I	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1770	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AATGTATTCTCTTCTGAAGTT	0.428																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(5308-5310)AGA>ATA		protein tyrosine phosphatase, receptor type, B							104.0	97.0	99.0					12																	70929923		1914	4143	6057	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70929923C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.5309G>T	12.37:g.70929923C>A	ENSP00000261266:p.Arg1770Ile					uc001svz.2_Intron|PTPRB_uc010sto.1_Missense_Mutation_p.R1680I|PTPRB_uc010stp.1_Missense_Mutation_p.R1680I|PTPRB_uc001swc.3_Missense_Mutation_p.R1988I|PTPRB_uc001swa.3_Missense_Mutation_p.R1900I	p.R1770I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		27	5339	-	Renal(347;0.236)		1770			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5309G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	33	5.238694	0.95240	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	D;D;D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8;-1.8;-1.8	5.91	5.91	0.95273	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.80764	0.989;0.977;0.989;0.994;0.977	D	0.92623	0.6109	10	0.72032	D	0.01	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1680;1680;1988;1770;1900	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	I	1988;1680;1900;1680;1680;1770	ENSP00000334928:R1988I;ENSP00000393028:R1680I;ENSP00000448058:R1900I;ENSP00000438927:R1680I;ENSP00000447302:R1680I;ENSP00000261266:R1770I	ENSP00000261266:R1770I	R	-	2	0	PTPRB	69216190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	AGA		0.428	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			3	23	1	0	2.56e-06	2.85e-06	3	23				
TMEM132B	114795	broad.mit.edu	37	12	126128737	126128737	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr12:126128737G>A	ENST00000299308.3	+	6	1546	c.1538G>A	c.(1537-1539)tGg>tAg	p.W513*	TMEM132B_ENST00000535886.1_Nonsense_Mutation_p.W25*	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	513						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTCACTGTCTGGGCACCCAGG	0.537																																						uc001uhe.1		NA																	0				skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1)	19						c.(1537-1539)TGG>TAG		transmembrane protein 132B							73.0	76.0	75.0					12																	126128737		1999	4179	6178	SO:0001587	stop_gained	114795					integral to membrane		g.chr12:126128737G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1538G>A	12.37:g.126128737G>A	ENSP00000299308:p.Trp513*					TMEM132B_uc001uhf.1_Nonsense_Mutation_p.W25*	p.W513*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	6	1546	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		513			Extracellular (Potential).		A2RRG8|Q8NA73|Q96JN9|Q96PY1	Nonsense_Mutation	SNP	ENST00000299308.3	37	c.1538G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345914	0.82022	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4324	0.94776	0.0:0.0:1.0:0.0	.	.	.	.	X	513;25	.	ENSP00000299308:W513X	W	+	2	0	TMEM132B	124694690	1.000000	0.71417	0.990000	0.47175	0.051000	0.14879	9.449000	0.97603	2.578000	0.87016	0.655000	0.94253	TGG		0.537	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907		5	44	0	0	0	0	5	44				
VWA8	23078	broad.mit.edu	37	13	42295521	42295521	+	Silent	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr13:42295521T>A	ENST00000379310.3	-	25	3017	c.2949A>T	c.(2947-2949)atA>atT	p.I983I	VWA8_ENST00000281496.6_Silent_p.I983I	NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	983						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AATGTTTGACTATGTTGACAA	0.408																																						uc001uyj.2		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(2947-2949)ATA>ATT		hypothetical protein LOC23078 isoform a							158.0	165.0	162.0					13																	42295521		2203	4300	6503	SO:0001819	synonymous_variant	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42295521T>A	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.2949A>T	13.37:g.42295521T>A						KIAA0564_uc001uyk.2_Silent_p.I983I	p.I983I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	25	3019	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	983					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	ENST00000379310.3	37	c.2949A>T	CCDS41881.1																																																																																				0.408	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		8	125	0	0	0	0	8	125				
PCDH20	64881	broad.mit.edu	37	13	61985826	61985826	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr13:61985826G>A	ENST00000409186.1	-	5	4511	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_ENST00000409204.4_Silent_p.G802G			Q8N6Y1	PCD20_HUMAN	protocadherin 20	802	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488																																						uc001vid.3		NA																	0				ovary(4)|breast(1)|central_nervous_system(1)	6						c.(2404-2406)GGC>GGT		protocadherin 20							98.0	93.0	95.0					13																	61985826		2203	4300	6503	SO:0001819	synonymous_variant	64881				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:61985826G>A	AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.2406C>T	13.37:g.61985826G>A						PCDH20_uc010thj.1_Silent_p.G802G	p.G802G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN		GBM - Glioblastoma multiforme(99;0.000118)	2	2770	-		Breast(118;0.195)|Prostate(109;0.229)	775			Cadherin 6.|Extracellular (Potential).		A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	ENST00000409186.1	37	c.2406C>T	CCDS9442.2																																																																																				0.488	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843		13	58	0	0	0	0	13	58				
OR11H6	122748	broad.mit.edu	37	14	20692714	20692714	+	Silent	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr14:20692714A>T	ENST00000315519.2	+	1	924	c.846A>T	c.(844-846)tcA>tcT	p.S282S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		GCCCAACATCAGGGAACCCAG	0.448																																						uc010tlc.1		NA																	0				ovary(2)|skin(1)	3						c.(844-846)TCA>TCT		olfactory receptor, family 11, subfamily H,							116.0	107.0	110.0					14																	20692714		2203	4300	6503	SO:0001819	synonymous_variant	122748				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20692714A>T		CCDS32033.1	14q11.2	2013-09-24			ENSG00000176219	ENSG00000176219		"""GPCR / Class A : Olfactory receptors"""	15349	protein-coding gene	gene with protein product							Standard	NM_001004480		Approved		uc010tlc.2	Q8NGC7	OTTHUMG00000170850	ENST00000315519.2:c.846A>T	14.37:g.20692714A>T							p.S282S	NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)	1	846	+	all_cancers(95;0.00108)		282			Extracellular (Potential).		Q6IF08	Silent	SNP	ENST00000315519.2	37	c.846A>T	CCDS32033.1																																																																																				0.448	OR11H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410676.1			5	71	0	0	0	0	5	71				
ASB2	51676	broad.mit.edu	37	14	94417436	94417436	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr14:94417436C>T	ENST00000315988.4	-	4	1133	c.645G>A	c.(643-645)aaG>aaA	p.K215K	ASB2_ENST00000555019.1_Silent_p.K263K|MIR4506_ENST00000584693.1_RNA|ASB2_ENST00000556337.1_Intron	NM_016150.4	NP_057234.2	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	215					intracellular signal transduction (GO:0035556)|myoblast differentiation (GO:0045445)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)	Cul5-RING ubiquitin ligase complex (GO:0031466)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		TGGATTCCACCTTGGCTCCTC	0.607																																						uc001ycc.1		NA																	0				ovary(1)|pancreas(1)	2						c.(643-645)AAG>AAA		ankyrin repeat and SOCS box-containing protein							122.0	99.0	107.0					14																	94417436		2203	4300	6503	SO:0001819	synonymous_variant	51676				intracellular signal transduction			g.chr14:94417436C>T	AF159164	CCDS9915.1, CCDS55940.1	14q31-q32	2013-01-10	2011-01-25					"""Ankyrin repeat domain containing"""	16012	protein-coding gene	gene with protein product		605759	"""ankyrin repeat and SOCS box-containing 2"""				Standard	NM_016150		Approved	ASB-2	uc001ycd.3	Q96Q27		ENST00000315988.4:c.645G>A	14.37:g.94417436C>T						ASB2_uc001ycd.2_Silent_p.K263K|ASB2_uc001yce.1_Silent_p.K161K	p.K215K	NM_016150	NP_057234	Q96Q27	ASB2_HUMAN		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)	4	1134	-		all_cancers(154;0.13)	215			ANK 5.		B2RDP9|B4E166|Q9NSU5|Q9Y567	Silent	SNP	ENST00000315988.4	37	c.645G>A	CCDS9915.1																																																																																				0.607	ASB2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412845.1			8	98	0	0	0	0	8	98				
HERC2	8924	broad.mit.edu	37	15	28386662	28386662	+	Silent	SNP	A	A	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:28386662A>C	ENST00000261609.7	-	78	12039	c.11931T>G	c.(11929-11931)acT>acG	p.T3977T		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCACAGGGAGTGGGAACTT	0.537																																						uc001zbj.2		NA																	0				ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)	13						c.(11929-11931)ACT>ACG		hect domain and RLD 2							93.0	89.0	90.0					15																	28386662		2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28386662A>C	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.11931T>G	15.37:g.28386662A>C							p.T3977T	NM_004667	NP_004658	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	78	12037	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3977			RCC1 13.			Silent	SNP	ENST00000261609.7	37	c.11931T>G	CCDS10021.1																																																																																				0.537	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		4	61	0	0	0	0	4	61				
TRPM1	4308	broad.mit.edu	37	15	31323321	31323321	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:31323321C>T	ENST00000256552.6	-	23	3139	c.2992G>A	c.(2992-2994)Gtg>Atg	p.V998M	TRPM1_ENST00000397795.2_Missense_Mutation_p.V976M|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000542188.1_Missense_Mutation_p.V1015M|RP11-348B17.1_ENST00000558755.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCATGAGCACGACCAGCATG	0.507																																						uc001zfm.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(2926-2928)GTG>ATG		transient receptor potential cation channel,							104.0	102.0	103.0					15																	31323321		2137	4267	6404	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31323321C>T	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.2992G>A	15.37:g.31323321C>T	ENSP00000256552:p.Val998Met					TRPM1_uc010azy.2_Missense_Mutation_p.V883M|TRPM1_uc001zfl.2_Intron	p.V976M	NM_002420	NP_002411	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	22	3054	-		all_lung(180;1.92e-11)	976			Helical; (Potential).			Missense_Mutation	SNP	ENST00000256552.6	37	c.2926G>A	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.961193	0.92791	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.76448	-1.02;-1.02;-1.02	5.92	5.92	0.95590	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.84846	2.72	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.90519	0.4487	10	0.87932	D	0	-32.7769	20.33	0.98713	0.0:1.0:0.0:0.0	.	970;976	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	M	976;1015;998;976	ENSP00000380897:V976M;ENSP00000437849:V1015M;ENSP00000256552:V998M	ENSP00000256552:V998M	V	-	1	0	TRPM1	29110613	1.000000	0.71417	0.969000	0.41365	0.964000	0.63967	7.818000	0.86416	2.810000	0.96702	0.585000	0.79938	GTG		0.507	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		13	62	0	0	0	0	13	62				
THBS1	7057	broad.mit.edu	37	15	39874946	39874946	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:39874946A>G	ENST00000260356.5	+	3	785	c.620A>G	c.(619-621)aAt>aGt	p.N207S		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	207	Laminin G-like.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		GTCAATGACAATTTCCAGGTG	0.552																																						uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.(619-621)AAT>AGT		thrombospondin 1 precursor	Becaplermin(DB00102)						34.0	33.0	33.0					15																	39874946		2200	4296	6496	SO:0001583	missense	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39874946A>G		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.620A>G	15.37:g.39874946A>G	ENSP00000260356:p.Asn207Ser						p.N207S	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	3	799	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)	207			TSP N-terminal.		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	ENST00000260356.5	37	c.620A>G	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627082	0.28978	.	.	ENSG00000137801	ENST00000260356	T	0.02067	4.47	5.56	5.56	0.83823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.38381	N	0.001719	T	0.02418	0.0074	L	0.31420	0.93	0.38041	D	0.935467	B	0.29590	0.25	B	0.12837	0.008	T	0.56727	-0.7931	10	0.49607	T	0.09	-31.4839	15.0308	0.71705	1.0:0.0:0.0:0.0	.	207	P07996	TSP1_HUMAN	S	207	ENSP00000260356:N207S	ENSP00000260356:N207S	N	+	2	0	THBS1	37662238	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.460000	0.45031	2.330000	0.79161	0.533000	0.62120	AAT		0.552	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246		3	30	0	0	0	0	3	30				
HYPK	25764	broad.mit.edu	37	15	44092849	44092849	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:44092849A>T	ENST00000406925.1	+	2	4164	c.53A>T	c.(52-54)gAg>gTg	p.E18V	SERINC4_ENST00000249714.3_5'Flank|SERF2_ENST00000594896.1_Missense_Mutation_p.E64V|RP11-296A16.1_ENST00000417761.2_5'Flank|SERINC4_ENST00000299969.6_5'Flank|HYPK_ENST00000442995.2_Missense_Mutation_p.E18V|HYPK_ENST00000498605.1_3'UTR|HYPK_ENST00000458412.1_Missense_Mutation_p.E18V|SERF2_ENST00000600633.1_Missense_Mutation_p.E18V|SERINC4_ENST00000319327.6_5'Flank			Q9NX55	HYPK_HUMAN	huntingtin interacting protein K	18						cytoplasm (GO:0005737)|nucleus (GO:0005634)							all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;8.1e-07)		GTGGAGCTGGAGTTGGAGACT	0.632																																						uc001ztf.2		NA																	0					0						c.(52-54)GAG>GTG		chromosome 15 open reading frame 63							60.0	53.0	55.0					15																	44092849		2198	4298	6496	SO:0001583	missense	25764							g.chr15:44092849A>T	AF049613	CCDS10104.1	15q14	2012-10-08	2012-10-08	2012-10-08	ENSG00000242028	ENSG00000242028			18418	protein-coding gene	gene with protein product	"""Huntingtin yeast partner K"""	612784	"""chromosome 15 open reading frame 63"""	C15orf63		9700202, 20154145	Standard	NM_016400		Approved	HSPC136, FLJ20431	uc001ztf.3	Q9NX55	OTTHUMG00000060146	ENST00000406925.1:c.53A>T	15.37:g.44092849A>T	ENSP00000384474:p.Glu18Val					ELL3_uc001zsx.1_5'Flank|C15orf63_uc001ztb.2_Missense_Mutation_p.E64V|SERINC4_uc001ztc.1_5'Flank|SERINC4_uc001ztd.1_5'Flank|SERINC4_uc010bds.1_5'Flank|SERINC4_uc001zte.1_5'Flank|C15orf63_uc001ztg.1_Missense_Mutation_p.E10V	p.E18V	NM_016400	NP_057484	Q9NX55	HYPK_HUMAN			1	229	+			18					C9JKJ0|O75408|Q8WUW8|Q9P024	Missense_Mutation	SNP	ENST00000406925.1	37	c.53A>T	CCDS10104.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.850597	0.91277	.	.	ENSG00000242028	ENST00000406925;ENST00000442995;ENST00000458412	T;T	0.52057	0.68;0.68	5.27	5.27	0.74061	.	0.048506	0.85682	D	0.000000	T	0.49541	0.1563	N	0.25890	0.77	0.80722	D	1	D;P	0.55385	0.971;0.852	P;P	0.55455	0.776;0.453	T	0.51647	-0.8679	10	0.54805	T	0.06	-22.8072	14.3007	0.66346	1.0:0.0:0.0:0.0	.	18;18	Q9NX55-3;Q9NX55	.;HYPK_HUMAN	V	18	ENSP00000384474:E18V;ENSP00000401155:E18V	ENSP00000384474:E18V	E	+	2	0	C15orf63	41880141	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	8.685000	0.91246	2.208000	0.71279	0.482000	0.46254	GAG		0.632	HYPK-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133876.3	NM_016400		9	15	0	0	0	0	9	15				
CGNL1	84952	broad.mit.edu	37	15	57734631	57734631	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:57734631G>C	ENST00000281282.5	+	4	1836	c.1758G>C	c.(1756-1758)caG>caC	p.Q586H		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	586						myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAAAATCCAGACCTTAAAGT	0.408																																						uc002aeg.2		NA																	0				skin(6)|ovary(4)|central_nervous_system(1)	11						c.(1756-1758)CAG>CAC		cingulin-like 1							91.0	87.0	88.0					15																	57734631		2192	4292	6484	SO:0001583	missense	84952					myosin complex|tight junction	motor activity	g.chr15:57734631G>C	AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.1758G>C	15.37:g.57734631G>C	ENSP00000281282:p.Gln586His					CGNL1_uc010bfw.2_Missense_Mutation_p.Q586H	p.Q586H	NM_032866	NP_116255	Q0VF96	CGNL1_HUMAN		all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)	4	1834	+			586					Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Missense_Mutation	SNP	ENST00000281282.5	37	c.1758G>C	CCDS10161.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183752	0.78677	.	.	ENSG00000128849	ENST00000281282	T	0.45668	0.89	5.46	4.54	0.55810	.	0.000000	0.51477	D	0.000084	T	0.59074	0.2167	M	0.72118	2.19	0.47698	D	0.999497	P	0.51933	0.949	P	0.58077	0.832	T	0.64206	-0.6462	10	0.72032	D	0.01	-24.8937	14.512	0.67794	0.0717:0.0:0.9283:0.0	.	586	Q0VF96	CGNL1_HUMAN	H	586	ENSP00000281282:Q586H	ENSP00000281282:Q586H	Q	+	3	2	CGNL1	55521923	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.284000	0.58983	1.273000	0.44346	0.557000	0.71058	CAG		0.408	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255482.2	NM_032866		14	52	0	0	0	0	14	52				
HEXA	3073	broad.mit.edu	37	15	72668095	72668095	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:72668095G>A	ENST00000268097.5	-	1	722	c.219C>T	c.(217-219)ttC>ttT	p.F73F	HEXA-AS1_ENST00000567598.1_RNA|HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000566304.1_Silent_p.F73F|HEXA_ENST00000567159.1_Silent_p.F73F|HEXA_ENST00000567213.1_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	73					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ACCCGGAACCGAAAAGCAGGT	0.627																																						uc002aun.3		NA																	0				ovary(3)|upper_aerodigestive_tract(1)	4						c.(217-219)TTC>TTT		hexosaminidase A preproprotein							98.0	106.0	103.0					15																	72668095		2199	4297	6496	SO:0001819	synonymous_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72668095G>A	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.219C>T	15.37:g.72668095G>A						CELF6_uc002auk.3_RNA|HEXA_uc010ukn.1_Silent_p.F73F|HEXA_uc002auo.3_5'UTR|HEXA_uc010bix.2_Silent_p.F73F|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|HEXA_uc010biz.1_RNA|C15orf34_uc010ukp.1_5'Flank	p.F73F	NM_000520	NP_000511	P06865	HEXA_HUMAN			1	426	-			73					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Silent	SNP	ENST00000268097.5	37	c.219C>T	CCDS10243.1																																																																																				0.627	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		24	161	0	0	0	0	24	161				
CLK3	1198	broad.mit.edu	37	15	74919948	74919948	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:74919948C>A	ENST00000395066.3	+	9	1886	c.1425C>A	c.(1423-1425)gaC>gaA	p.D475E	CLK3_ENST00000345005.4_Missense_Mutation_p.D327E|CLK3_ENST00000352989.5_Missense_Mutation_p.D304E|CLK3_ENST00000348245.3_3'UTR	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	475	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)	cytoplasmic vesicle (GO:0031410)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CCACATTTGACCATGAGCACC	0.562																																					Ovarian(133;694 1754 28950 29027 31859)	uc010uln.1		NA																	0				stomach(2)	2						c.(1423-1425)GAC>GAA		CDC-like kinase 3 isoform a							214.0	177.0	189.0					15																	74919948		2197	4296	6493	SO:0001583	missense	1198					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:74919948C>A	L29220	CCDS10265.1, CCDS45304.1	15q24	2008-05-02			ENSG00000179335	ENSG00000179335		"""CDC-like kinases"""	2071	protein-coding gene	gene with protein product		602990				7990150, 9856501	Standard	NM_003992		Approved	clk3	uc010uln.2	P49761	OTTHUMG00000141320	ENST00000395066.3:c.1425C>A	15.37:g.74919948C>A	ENSP00000378505:p.Asp475Glu					CLK3_uc002ayg.3_Missense_Mutation_p.D327E|CLK3_uc002ayh.3_Missense_Mutation_p.D106E|CLK3_uc002ayj.3_Missense_Mutation_p.D304E|CLK3_uc002ayk.3_Missense_Mutation_p.D254E|CLK3_uc002ayl.3_Missense_Mutation_p.D160E	p.D475E	NM_001130028	NP_001123500	P49761	CLK3_HUMAN			9	1886	+			475			Protein kinase.		D3DW59|Q53Y48|Q9BRS3|Q9BUJ7	Missense_Mutation	SNP	ENST00000395066.3	37	c.1425C>A	CCDS45304.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.573924	0.65765	.	.	ENSG00000179335	ENST00000345005;ENST00000395066;ENST00000454830;ENST00000352989	T;T	0.64085	-0.08;-0.08	5.62	4.69	0.59074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.59797	0.2220	N	0.16066	0.365	0.80722	D	1	P;D;D;P	0.61080	0.652;0.978;0.989;0.542	P;P;P;B	0.61132	0.571;0.689;0.884;0.172	T	0.62525	-0.6836	10	0.45353	T	0.12	.	11.9393	0.52892	0.0:0.8537:0.0:0.1463	.	475;180;254;304	P49761;B3KVF3;B3KUU7;G5E959	CLK3_HUMAN;.;.;.	E	327;327;475;304	ENSP00000344112:D327E;ENSP00000323106:D304E	ENSP00000344112:D327E	D	+	3	2	CLK3	72707001	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.031000	0.30165	1.354000	0.45846	0.561000	0.74099	GAC		0.562	CLK3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390442.3			33	110	1	0	9.18e-22	1.08e-21	33	110				
BTBD1	53339	broad.mit.edu	37	15	83718833	83718833	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:83718833A>T	ENST00000261721.4	-	3	858	c.656T>A	c.(655-657)aTt>aAt	p.I219N	RP11-382A20.7_ENST00000570202.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|BTBD1_ENST00000379403.2_Missense_Mutation_p.I219N	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	219					protein ubiquitination (GO:0016567)|regulation of protein binding (GO:0043393)	cytoplasmic mRNA processing body (GO:0000932)|protein complex (GO:0043234)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		ACCTATATCAATATCAGTAAA	0.358																																						uc002bjn.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(655-657)ATT>AAT		BTB (POZ) domain containing 1 isoform 1							125.0	116.0	119.0					15																	83718833		2202	4300	6502	SO:0001583	missense	53339					cytoplasmic mRNA processing body|protein complex	protein binding	g.chr15:83718833A>T	AF355402	CCDS10322.1, CCDS32313.1	15q24	2013-01-08			ENSG00000064726	ENSG00000064726		"""BTB/POZ domain containing"""	1120	protein-coding gene	gene with protein product		608530					Standard	XM_006720573		Approved		uc002bjn.3	Q9H0C5	OTTHUMG00000147364	ENST00000261721.4:c.656T>A	15.37:g.83718833A>T	ENSP00000261721:p.Ile219Asn					BTBD1_uc002bjo.2_Missense_Mutation_p.I219N	p.I219N	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN		all cancers(203;0.000186)	3	859	-			219					A6NMI8|Q9BX71|Q9NWN4	Missense_Mutation	SNP	ENST00000261721.4	37	c.656T>A	CCDS10322.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.575232	0.86542	.	.	ENSG00000064726	ENST00000261721;ENST00000379403	T;T	0.70399	-0.48;-0.48	5.51	5.51	0.81932	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.86843	0.6030	M	0.90369	3.11	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.987	D	0.89664	0.3879	10	0.87932	D	0	-28.6022	15.9211	0.79575	1.0:0.0:0.0:0.0	.	219;219	A6NMI8;Q9H0C5	.;BTBD1_HUMAN	N	219	ENSP00000261721:I219N;ENSP00000368713:I219N	ENSP00000261721:I219N	I	-	2	0	BTBD1	81509837	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.210000	0.95106	2.210000	0.71456	0.533000	0.62120	ATT		0.358	BTBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304008.1			6	45	0	0	0	0	6	45				
TICRR	90381	broad.mit.edu	37	15	90127621	90127621	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr15:90127621G>T	ENST00000268138.7	+	3	1144	c.1039G>T	c.(1039-1041)Gcc>Tcc	p.A347S	TICRR_ENST00000560985.1_Missense_Mutation_p.A346S|RP11-429B14.3_ENST00000560477.1_RNA|RP11-429B14.1_ENST00000559041.1_RNA			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	347					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										AGGCTCAGTGGCCCAGTGGTC	0.488																																						uc002boe.2		NA																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(1039-1041)GCC>TCC		leucine-rich repeat kinase 1							70.0	69.0	69.0					15																	90127621		1877	4104	5981	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90127621G>T	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.1039G>T	15.37:g.90127621G>T	ENSP00000268138:p.Ala347Ser						p.A347S	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		3	1039	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		347					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.1039G>T	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	0.115	-1.133657	0.01756	.	.	ENSG00000140534	ENST00000268138	T	0.14266	2.52	5.26	-6.16	0.02098	.	0.999489	0.08099	N	0.998081	T	0.06050	0.0157	N	0.16478	0.41	0.09310	N	1	B	0.16396	0.017	B	0.15052	0.012	T	0.46610	-0.9179	10	0.07813	T	0.8	0.0	9.0568	0.36410	0.7255:0.0:0.1584:0.1162	.	347	Q7Z2Z1	TICRR_HUMAN	S	347	ENSP00000268138:A347S	ENSP00000268138:A347S	A	+	1	0	C15orf42	87928625	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.094000	0.11094	-0.980000	0.03524	-0.907000	0.02831	GCC		0.488	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		16	56	1	0	1.15e-07	1.31e-07	16	56				
PKD1	5310	broad.mit.edu	37	16	2166554	2166554	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:2166554G>A	ENST00000262304.4	-	8	1906	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	PKD1_ENST00000423118.1_Silent_p.L566L|RP11-304L19.2_ENST00000562027.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	566					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCGGGGCTGAGAGGCCGTCCT	0.711																																						uc002cos.1		NA																	0				central_nervous_system(2)|skin(1)	3						c.(1696-1698)CTC>CTT		polycystin 1 isoform 1 precursor							8.0	9.0	9.0					16																	2166554		2160	4243	6403	SO:0001819	synonymous_variant	5310				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	g.chr16:2166554G>A	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.1698C>T	16.37:g.2166554G>A						PKD1_uc002cot.1_Silent_p.L566L	p.L566L	NM_001009944	NP_001009944	P98161	PKD1_HUMAN			8	1907	-			566			Extracellular (Potential).		Q15140|Q15141	Silent	SNP	ENST00000262304.4	37	c.1698C>T	CCDS32369.1																																																																																				0.711	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341688.1			2	2	0	0	0	0	2	2				
MMP2	4313	broad.mit.edu	37	16	55530841	55530841	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:55530841C>T	ENST00000219070.4	+	10	1985	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	MMP2_ENST00000570308.1_Silent_p.F416F|MMP2_ENST00000437642.2_Silent_p.F442F|MMP2_ENST00000543485.1_Silent_p.F416F	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	492	Required for inhibitor TIMP2 binding.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CTGCCAGGTTCATTTGGCGGA	0.592																																						uc002ehz.3		NA																	0				large_intestine(3)|ovary(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)	11						c.(1474-1476)TTC>TTT		matrix metalloproteinase 2 isoform a	Marimastat(DB00786)|Sulindac(DB00605)						57.0	52.0	54.0					16																	55530841		2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55530841C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.1476C>T	16.37:g.55530841C>T						MMP2_uc010vhd.1_Silent_p.F416F|MMP2_uc010ccc.2_Silent_p.F442F|MMP2_uc002eia.3_5'UTR	p.F492F	NM_004530	NP_004521	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	10	1787	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	492			Required for inhibitor TIMP2 binding.|Hemopexin-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.1476C>T	CCDS10752.1																																																																																				0.592	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			6	65	0	0	0	0	6	65				
CDH5	1003	broad.mit.edu	37	16	66432402	66432402	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:66432402G>A	ENST00000341529.3	+	10	1677	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	510	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	ATAACACCACGAAACGTGAAG	0.488																																						uc002eom.3		NA																	0				ovary(2)|lung(2)|central_nervous_system(1)|skin(1)	6						c.(1528-1530)CGA>CAA		cadherin 5, type 2 preproprotein							158.0	133.0	141.0					16																	66432402		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66432402G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.1529G>A	16.37:g.66432402G>A	ENSP00000344115:p.Arg510Gln						p.R510Q	NM_001795	NP_001786	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	10	1685	+		Ovarian(137;0.0955)	510			Cadherin 5.|Extracellular (Potential).		Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.1529G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	2.184	-0.386871	0.04966	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262	T	0.51071	0.72	4.95	-9.89	0.00464	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.18759	0.0450	N	0.11427	0.14	0.09310	N	0.999998	B	0.06786	0.001	B	0.13407	0.009	T	0.17198	-1.0377	9	0.41790	T	0.15	.	1.5735	0.02620	0.3967:0.1893:0.2596:0.1543	.	510	P33151	CADH5_HUMAN	Q	510;395;251	ENSP00000344115:R510Q	ENSP00000344115:R510Q	R	+	2	0	CDH5	64989903	0.000000	0.05858	0.000000	0.03702	0.161000	0.22273	-2.423000	0.01030	-2.349000	0.00618	-0.459000	0.05422	CGA		0.488	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		3	43	0	0	0	0	3	43				
GLG1	2734	broad.mit.edu	37	16	74537551	74537551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:74537551G>A	ENST00000422840.2	-	4	651	c.652C>T	c.(652-654)Cag>Tag	p.Q218*	GLG1_ENST00000205061.5_Nonsense_Mutation_p.Q218*|GLG1_ENST00000447066.2_Nonsense_Mutation_p.Q207*	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	218					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GTAATGTACTGGTGACACTGA	0.423																																						uc002fcy.3		NA																	0				ovary(1)|breast(1)	2						c.(652-654)CAG>TAG		golgi apparatus protein 1 isoform 3							195.0	169.0	178.0					16																	74537551		2198	4300	6498	SO:0001587	stop_gained	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74537551G>A		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.652C>T	16.37:g.74537551G>A	ENSP00000405984:p.Gln218*					GLG1_uc002fcx.2_Nonsense_Mutation_p.Q218*|GLG1_uc002fcw.3_Nonsense_Mutation_p.Q207*|GLG1_uc002fcz.3_5'UTR	p.Q218*	NM_001145667	NP_001139139	Q92896	GSLG1_HUMAN			4	702	-			218			Extracellular (Potential).|Cys-rich GLG1 3.		B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Nonsense_Mutation	SNP	ENST00000422840.2	37	c.652C>T	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877342	0.72294	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-6.1135	19.27	0.94004	0.0:0.0:1.0:0.0	.	.	.	.	X	218;207;218	.	ENSP00000205061:Q218X	Q	-	1	0	GLG1	73095052	1.000000	0.71417	0.993000	0.49108	0.980000	0.70556	7.801000	0.85960	2.546000	0.85860	0.591000	0.81541	CAG		0.423	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		21	104	0	0	0	0	21	104				
TP53	7157	broad.mit.edu	37	17	7578177	7578177	+	Splice_Site	SNP	C	C	A	rs267605076		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:7578177C>A	ENST00000269305.4	-	6	861	c.672G>T	c.(670-672)gaG>gaT	p.E224D	TP53_ENST00000420246.2_Splice_Site_p.E224D|TP53_ENST00000455263.2_Splice_Site_p.E224D|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224D|TP53_ENST00000445888.2_Splice_Site_p.E224D|TP53_ENST00000413465.2_Splice_Site_p.E224D	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	224	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAAACCAGACCTCAGGCGGCT	0.532		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		61	Substitution - Missense(23)|Substitution - coding silent(14)|Unknown(13)|Whole gene deletion(8)|Deletion - In frame(1)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.E224D(11)|p.0?(7)|p.E224E(6)|p.E224K(5)|p.E224*(4)|p.?(3)|p.E224G(2)|p.E224fs*4(1)|p.E224fs*5(1)|p.V218_E224delVPYEPPE(1)|p.E224fs*23(1)|p.V225fs*24(1)|p.E224fs*24(1)|p.E224_V225insXX(1)	lung(23)|large_intestine(7)|bone(6)|biliary_tract(5)|endometrium(5)|oesophagus(3)|breast(3)|stomach(2)|central_nervous_system(2)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|ovary(1)|liver(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						c.(670-672)GAG>GAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							81.0	76.0	78.0					17																	7578177		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578177C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578177C>A		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.E224D|TP53_uc002gih.2_Missense_Mutation_p.E224D|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E92D|TP53_uc010cng.1_Missense_Mutation_p.E92D|TP53_uc002gii.1_Missense_Mutation_p.E92D|TP53_uc010cnh.1_Missense_Mutation_p.E224D|TP53_uc010cni.1_Missense_Mutation_p.E224D|TP53_uc002gij.2_Missense_Mutation_p.E224D|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.E131D|TP53_uc002gio.2_Missense_Mutation_p.E92D|TP53_uc010vug.1_Missense_Mutation_p.E185D	p.E224D	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	866	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	224		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).|E -> K (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.672G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551846	0.65311	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99760	-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66;-6.66	5.28	4.31	0.51392	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.057313	0.64402	D	0.000001	D	0.99230	0.9732	L	0.59436	1.845	0.51233	D	0.999915	B;B;B;B;B;B;B	0.28636	0.005;0.001;0.218;0.001;0.001;0.001;0.002	B;B;B;B;B;B;B	0.37346	0.015;0.017;0.247;0.002;0.03;0.037;0.006	D	0.99917	1.1232	10	0.87932	D	0	-13.9223	12.1312	0.53944	0.0:0.9158:0.0:0.0842	.	185;224;224;131;224;224;224	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	D	224;224;224;224;224;224;213;131;92;131	ENSP00000410739:E224D;ENSP00000352610:E224D;ENSP00000269305:E224D;ENSP00000398846:E224D;ENSP00000391127:E224D;ENSP00000391478:E224D;ENSP00000425104:E92D;ENSP00000423862:E131D	ENSP00000269305:E224D	E	-	3	2	TP53	7518902	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	6.040000	0.70980	1.362000	0.46000	0.563000	0.77884	GAG		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Missense_Mutation	8	6	1	0	5.18e-06	5.74e-06	8	6				
MYH1	4619	broad.mit.edu	37	17	10418213	10418213	+	Splice_Site	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:10418213C>G	ENST00000226207.5	-	6	600		c.e6-1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult						muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTCTCCCGATCTAGAAGAAAA	0.328																																						uc002gmo.2		NA																	0				ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.e6-1		myosin, heavy chain 1, skeletal muscle, adult							113.0	118.0	116.0					17																	10418213		2203	4297	6500	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10418213C>G		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.506-1G>C	17.37:g.10418213C>G						uc002gml.1_Intron	p.D169_splice	NM_005963	NP_005954	P12882	MYH1_HUMAN			6	600	-								Q14CA4|Q9Y622	Splice_Site	SNP	ENST00000226207.5	37	c.506_splice	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.426588	0.83667	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4611	0.94918	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MYH1	10358938	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	7.811000	0.86092	2.657000	0.90304	0.655000	0.94253	.		0.328	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Intron	3	80	0	0	0	0	3	80				
GAS2L2	246176	broad.mit.edu	37	17	34073141	34073141	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:34073141G>A	ENST00000254466.6	-	6	1402	c.1375C>T	c.(1375-1377)Cct>Tct	p.P459S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.P443S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	459					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAGGAACGAGGCAGGGGAGAT	0.632																																						uc002hjv.1		NA																	0				ovary(1)|skin(1)	2						c.(1375-1377)CCT>TCT		growth arrest-specific 2 like 2							131.0	141.0	138.0					17																	34073141		2203	4300	6503	SO:0001583	missense	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34073141G>A	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1375C>T	17.37:g.34073141G>A	ENSP00000254466:p.Pro459Ser						p.P459S	NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	1403	-		Ovarian(249;0.17)	459					Q8NHY4	Missense_Mutation	SNP	ENST00000254466.6	37	c.1375C>T	CCDS11298.1	.	.	.	.	.	.	.	.	.	.	G	13.48	2.251029	0.39797	.	.	ENSG00000132139	ENST00000254466	T	0.17370	2.28	5.19	4.22	0.49857	.	0.228702	0.34338	N	0.004041	T	0.15782	0.0380	L	0.59436	1.845	0.09310	N	0.999996	P	0.49253	0.921	B	0.38880	0.284	T	0.16247	-1.0409	10	0.27785	T	0.31	-1.7347	10.8208	0.46604	0.0874:0.0:0.9126:0.0	.	459	Q8NHY3	GA2L2_HUMAN	S	459	ENSP00000254466:P459S	ENSP00000254466:P459S	P	-	1	0	GAS2L2	31097254	0.065000	0.20965	0.375000	0.26029	0.009000	0.06853	0.777000	0.26718	1.436000	0.47453	0.655000	0.94253	CCT		0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		21	99	0	0	0	0	21	99				
OR4D1	26689	broad.mit.edu	37	17	56233093	56233093	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:56233093C>T	ENST00000268912.5	+	1	600	c.579C>T	c.(577-579)tcC>tcT	p.S193S		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	193					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTGATACCTCCCTCCTGGAGT	0.493																																						uc010wno.1		NA																	0				ovary(1)	1						c.(577-579)TCC>TCT		olfactory receptor, family 4, subfamily D,							144.0	138.0	140.0					17																	56233093		2203	4300	6503	SO:0001819	synonymous_variant	26689				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:56233093C>T	X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.579C>T	17.37:g.56233093C>T						MSX2P1_uc002ivn.2_5'Flank	p.S193S	NM_012374	NP_036506	Q15615	OR4D1_HUMAN			1	579	+			193			Extracellular (Potential).		B2RN14|Q8NGB1|Q96R76	Silent	SNP	ENST00000268912.5	37	c.579C>T	CCDS42365.1																																																																																				0.493	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443364.1			36	48	0	0	0	0	36	48				
MIF4GD	57409	broad.mit.edu	37	17	73264171	73264171	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:73264171A>T	ENST00000325102.8	-	3	309	c.185T>A	c.(184-186)aTc>aAc	p.I62N	MIF4GD_ENST00000580571.1_Missense_Mutation_p.I62N|MIF4GD_ENST00000579119.1_Missense_Mutation_p.I62N|MIF4GD_ENST00000579297.1_Missense_Mutation_p.I103N|MIF4GD_ENST00000577542.1_Missense_Mutation_p.I103N|MIF4GD_ENST00000245551.5_Missense_Mutation_p.I96N|MIF4GD_ENST00000578305.1_Intron	NM_001242501.1	NP_001229430.1	A9UHW6	MI4GD_HUMAN	MIF4G domain containing	62	MIF4G.				regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	10	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AACCTGAATGATGGCGTAGCA	0.562																																						uc002jnr.2		NA																	0				ovary(1)	1						c.(184-186)ATC>AAC		RecName: Full=MIF4G domain-containing protein; AltName: Full=SLBP-interacting protein 1;          Short=hSLIP1;							139.0	101.0	114.0					17																	73264171		2203	4300	6503	SO:0001583	missense	57409				regulation of translation|RNA metabolic process	cytoplasm|nucleus	protein C-terminus binding	g.chr17:73264171A>T	CR605810	CCDS11719.1, CCDS56044.1, CCDS58598.1	17q25.1	2005-12-15		2005-12-15					24030	protein-coding gene	gene with protein product		612072		MIFD			Standard	NM_001242498		Approved	AD023, MGC45027	uc002jnq.3	A9UHW6		ENST00000325102.8:c.185T>A	17.37:g.73264171A>T	ENSP00000321625:p.Ile62Asn					MIF4GD_uc002jno.2_Missense_Mutation_p.I103N|MIF4GD_uc002jnp.2_Missense_Mutation_p.I96N|MIF4GD_uc002jnq.2_Missense_Mutation_p.I103N	p.I62N			A9UHW6	MI4GD_HUMAN	all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)		3	314	-	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		62			MIF4G.		B4DUM7|Q8N4Q5|Q9HBL5	Missense_Mutation	SNP	ENST00000325102.8	37	c.185T>A	CCDS56044.1	.	.	.	.	.	.	.	.	.	.	A	15.54	2.864891	0.51482	.	.	ENSG00000125457	ENST00000245551;ENST00000325102	T;T	0.27256	1.68;1.68	5.47	5.47	0.80525	MIF4G-like, type 3 (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.048326	0.85682	D	0.000000	T	0.49167	0.1541	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.988;0.996;1.0	T	0.51044	-0.8755	10	0.87932	D	0	-13.6534	15.2111	0.73225	1.0:0.0:0.0:0.0	.	62;96;103	A9UHW6;A9UHW6-2;B4DUM7	MI4GD_HUMAN;.;.	N	96;62	ENSP00000245551:I96N;ENSP00000321625:I62N	ENSP00000245551:I96N	I	-	2	0	MIF4GD	70775766	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.679000	0.91220	2.082000	0.62665	0.454000	0.30748	ATC		0.562	MIF4GD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446671.1	NM_020679		6	42	0	0	0	0	6	42				
PGS1	9489	broad.mit.edu	37	17	76420210	76420210	+	3'UTR	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr17:76420210C>G	ENST00000262764.6	+	0	1776				PGS1_ENST00000329897.7_3'UTR|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.G4412A|AC061992.1_ENST00000600087.1_5'Flank|PGS1_ENST00000588281.1_3'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.G4384A	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1						cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			AGCGATGACTCCAGTCTGGGT	0.607																																					Esophageal Squamous(45;182 1126 10685 43198)	uc010dhp.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(4165-4167)GGA>GCA		SubName: Full=DNAH17 variant protein; Flags: Fragment;							42.0	42.0	42.0					17																	76420210		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8632							g.chr17:76420210C>G		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.*79C>G	17.37:g.76420210C>G						PGS1_uc002jvm.2_3'UTR|PGS1_uc010wtt.1_RNA|PGS1_uc010dho.2_RNA|PGS1_uc002jvn.2_3'UTR|PGS1_uc002jvo.2_RNA|DNAH17_uc002jvq.2_Missense_Mutation_p.G674A|DNAH17_uc002jvs.2_RNA	p.G1389A					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		26	4388	-								B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	c.4166G>C	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.515156	0.85389	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.09163	3.01	5.23	5.23	0.72850	.	0.225185	0.31102	N	0.008258	T	0.32315	0.0825	M	0.83483	2.645	0.49051	D	0.999748	D	0.55385	0.971	P	0.62298	0.9	T	0.03139	-1.1068	10	0.87932	D	0	.	12.3371	0.55073	0.0:0.9236:0.0:0.0764	.	4384	E7EUM8	.	A	4384;4412	ENSP00000374490:G4412A	ENSP00000300671:G4384A	G	-	2	0	DNAH17	73931805	1.000000	0.71417	0.988000	0.46212	0.860000	0.49131	5.656000	0.67988	2.713000	0.92767	0.655000	0.94253	GGA		0.607	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1	NM_024419		7	34	0	0	0	0	7	34				
CABLES1	91768	broad.mit.edu	37	18	20837210	20837210	+	Missense_Mutation	SNP	G	G	A	rs186772636		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:20837210G>A	ENST00000256925.7	+	10	1781	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q	CABLES1_ENST00000420687.2_Missense_Mutation_p.R329Q|RP11-17J14.2_ENST00000585184.1_RNA|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000400473.2_Missense_Mutation_p.R267Q|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	594					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAGAAGTTCCGGCTGAACAGG	0.448																																						uc002kuc.2		NA																	0				breast(1)	1						c.(1780-1782)CGG>CAG		Cdk5 and Abl enzyme substrate 1 isoform 2							88.0	89.0	89.0					18																	20837210		1888	4107	5995	SO:0001583	missense	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20837210G>A	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1781G>A	18.37:g.20837210G>A	ENSP00000256925:p.Arg594Gln					C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Missense_Mutation_p.R97Q|CABLES1_uc002kud.2_Missense_Mutation_p.R329Q	p.R594Q	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			10	1781	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		594					B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Missense_Mutation	SNP	ENST00000256925.7	37	c.1781G>A	CCDS42417.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	35	5.518024	0.96416	.	.	ENSG00000134508	ENST00000400473;ENST00000256925;ENST00000420687	T;T;T	0.17691	2.26;2.26;2.26	5.35	5.35	0.76521	Cyclin, N-terminal (1);Cyclin-like (3);	0.051395	0.85682	D	0.000000	T	0.46521	0.1397	M	0.77820	2.39	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.99;0.998	T	0.38779	-0.9645	10	0.66056	D	0.02	-18.0987	19.6142	0.95626	0.0:0.0:1.0:0.0	.	329;594	Q8TDN4-2;Q8TDN4	.;CABL1_HUMAN	Q	267;594;329	ENSP00000383321:R267Q;ENSP00000256925:R594Q;ENSP00000413851:R329Q	ENSP00000256925:R594Q	R	+	2	0	CABLES1	19091208	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.255000	0.95524	2.941000	0.99782	0.655000	0.94253	CGG		0.448	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		8	75	0	0	0	0	8	75				
ATP9B	374868	broad.mit.edu	37	18	76873289	76873289	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr18:76873289A>T	ENST00000426216.2	+	4	510	c.493A>T	c.(493-495)Ata>Tta	p.I165L	ATP9B_ENST00000307671.7_Missense_Mutation_p.I165L|ATP9B_ENST00000591464.1_Intron|ATP9B_ENST00000458297.2_Missense_Mutation_p.I113L|ATP9B_ENST00000586722.1_Missense_Mutation_p.I165L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	165					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTTTCTAGTAATATCCTGCTC	0.294																																						uc002lmx.2		NA																	0				ovary(3)	3						c.(493-495)ATA>TTA		ATPase, class II, type 9B							48.0	49.0	48.0					18																	76873289		2203	4295	6498	SO:0001583	missense	374868				ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr18:76873289A>T	R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.493A>T	18.37:g.76873289A>T	ENSP00000398076:p.Ile165Leu					ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.I165L|ATP9B_uc002lmy.1_RNA|ATP9B_uc002lmz.1_5'UTR|ATP9B_uc002lmu.2_Missense_Mutation_p.I165L	p.I165L	NM_198531	NP_940933	O43861	ATP9B_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)	4	507	+		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)	165			Helical; (Potential).		O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	c.493A>T	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	A	15.47	2.844266	0.51164	.	.	ENSG00000166377	ENST00000542323;ENST00000426216;ENST00000307671;ENST00000458297	T;T;T	0.57752	0.38;0.38;0.38	5.95	5.08	0.68730	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.052868	0.85682	D	0.000000	T	0.38026	0.1025	N	0.16567	0.415	0.80722	D	1	B;B;B	0.14805	0.0;0.0;0.011	B;B;B	0.15870	0.001;0.001;0.014	T	0.13019	-1.0525	10	0.36615	T	0.2	.	14.3753	0.66869	0.0718:0.0:0.9282:0.0	.	165;165;165	O43861;O43861-2;B4DJ94	ATP9B_HUMAN;.;.	L	88;165;165;113	ENSP00000398076:I165L;ENSP00000304500:I165L;ENSP00000442794:I113L	ENSP00000304500:I165L	I	+	1	0	ATP9B	74974277	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.131000	0.71670	1.501000	0.48654	-0.242000	0.12053	ATA		0.294	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531		6	34	0	0	0	0	6	34				
ZNRF4	148066	broad.mit.edu	37	19	5456159	5456159	+	Silent	SNP	G	G	A	rs201616133	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:5456159G>A	ENST00000222033.4	+	1	734	c.657G>A	c.(655-657)tcG>tcA	p.S219S		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	219	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		AGGCCGCCTCGCAGGACCTGC	0.667													G|||	5	0.000998403	0.0	0.0	5008	,	,		16096	0.0		0.005	False		,,,				2504	0.0					uc002mca.3		NA																	0				large_intestine(2)	2						c.(655-657)TCG>TCA		zinc and ring finger 4 precursor		G		5,4353		0,5,2174	53.0	55.0	54.0		657	-8.6	0.1	19		54	27,8503		0,27,4238	no	coding-synonymous	ZNRF4	NM_181710.3		0,32,6412	AA,AG,GG		0.3165,0.1147,0.2483		219/430	5456159	32,12856	2179	4265	6444	SO:0001819	synonymous_variant	148066					integral to membrane	zinc ion binding	g.chr19:5456159G>A	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.657G>A	19.37:g.5456159G>A							p.S219S	NM_181710	NP_859061	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	734	+			219			Extracellular (Potential).|PA.		A8K886|O75866	Silent	SNP	ENST00000222033.4	37	c.657G>A	CCDS42475.1																																																																																				0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	NM_181710		11	77	0	0	0	0	11	77				
P2RY11	5032	broad.mit.edu	37	19	10225067	10225067	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:10225067T>A	ENST00000321826.4	+	2	962	c.778T>A	c.(778-780)Tcc>Acc	p.S260T	PPAN_ENST00000556468.1_Missense_Mutation_p.S680T|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.S680T	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	260					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CTACGCCAGCTCCTATGTGCC	0.677																																						uc002mna.2		NA																	0				ovary(2)	2						c.(2038-2040)TCC>ACC		PPAN-P2RY11 protein							69.0	64.0	66.0					19																	10225067		2203	4299	6502	SO:0001583	missense	692312				RNA splicing	nucleolus	protein binding	g.chr19:10225067T>A	AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.778T>A	19.37:g.10225067T>A	ENSP00000323872:p.Ser260Thr					PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.S260T	p.S680T	NM_001040664	NP_001035754	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		13	2038	+			Error:Variant_position_missing_in_Q9NQ55_after_alignment					B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	ENST00000321826.4	37	c.2038T>A	CCDS12226.1	.	.	.	.	.	.	.	.	.	.	t	18.39	3.612852	0.66672	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.37752	1.18;1.18;1.18	4.51	4.51	0.55191	GPCR, rhodopsin-like superfamily (1);	0.076516	0.53938	U	0.000046	T	0.61035	0.2315	M	0.82823	2.61	0.42882	D	0.994173	D	0.76494	0.999	D	0.74348	0.983	T	0.67031	-0.5773	10	0.56958	D	0.05	-17.3625	12.9167	0.58211	0.0:0.0:0.0:1.0	.	260	Q96G91	P2Y11_HUMAN	T	680;680;260	ENSP00000377385:S680T;ENSP00000450710:S680T;ENSP00000323872:S260T	ENSP00000323872:S260T	S	+	1	0	PPAN;P2RY11;PPAN-P2RY11	10086067	0.938000	0.31826	0.870000	0.34147	0.056000	0.15407	2.544000	0.45761	1.901000	0.55032	0.454000	0.30748	TCC		0.677	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316664.2	NM_002566		10	78	0	0	0	0	10	78				
ZNF69	7620	broad.mit.edu	37	19	12014459	12014459	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:12014459G>A	ENST00000429654.2	+	2	275	c.135G>A	c.(133-135)caG>caA	p.Q45Q	ZNF69_ENST00000340180.5_Silent_p.Q31Q			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	45	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		ATATTTCCCAGAGGAAACTCT	0.478																																						uc002mst.3		NA																	0				skin(1)	1						c.(91-93)CAG>CAA		zinc finger protein 69							136.0	134.0	135.0					19																	12014459		2203	4300	6503	SO:0001819	synonymous_variant	7620					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:12014459G>A	X60076	CCDS32914.1	19p13.2	2013-01-08	2006-05-12		ENSG00000198429	ENSG00000198429		"""Zinc fingers, C2H2-type"", ""-"""	13138	protein-coding gene	gene with protein product		194543	"""zinc finger protein 69 (Cos5)"""			1639391	Standard	NM_021915		Approved	Cos5	uc002mst.4	Q9UC07	OTTHUMG00000156526	ENST00000429654.2:c.135G>A	19.37:g.12014459G>A							p.Q31Q	NM_021915	NP_068734	Q9UC07	ZNF69_HUMAN		Lung(535;0.011)	2	162	+			45			KRAB.		Q86VA7	Silent	SNP	ENST00000429654.2	37	c.93G>A																																																																																					0.478	ZNF69-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000344082.1	NM_021915		12	88	0	0	0	0	12	88				
CPAMD8	27151	broad.mit.edu	37	19	17038880	17038880	+	Silent	SNP	G	G	A	rs374653412		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:17038880G>A	ENST00000443236.1	-	25	3481	c.3450C>T	c.(3448-3450)ttC>ttT	p.F1150F		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1103						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCAGGGTGAAGGCCTCGC	0.632																																						uc002nfb.2		NA																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(3448-3450)TTC>TTT		C3 and PZP-like, alpha-2-macroglobulin domain		G		0,4004		0,0,2002	51.0	61.0	58.0		3450	1.9	1.0	19		58	3,8325		0,3,4161	no	coding-synonymous	CPAMD8	NM_015692.2		0,3,6163	AA,AG,GG		0.036,0.0,0.0243		1150/1933	17038880	3,12329	2002	4164	6166	SO:0001819	synonymous_variant	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17038880G>A	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.3450C>T	19.37:g.17038880G>A							p.F1150F	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			25	3482	-			1103					Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	37	c.3450C>T	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	G	5.146	0.212446	0.09757	0.0	3.6E-4	ENSG00000160111	ENST00000443236	.	.	.	3.02	1.85	0.25348	.	.	.	.	.	T	0.53417	0.1795	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48258	-0.9051	4	.	.	.	.	6.6315	0.22859	0.3102:0.0:0.6898:0.0	.	.	.	.	L	1161	.	.	S	-	2	0	CPAMD8	16899880	1.000000	0.71417	0.994000	0.49952	0.507000	0.33981	1.117000	0.31234	1.237000	0.43756	0.655000	0.94253	TCA		0.632	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692		6	57	0	0	0	0	6	57				
HAPLN4	404037	broad.mit.edu	37	19	19371769	19371769	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:19371769G>A	ENST00000291481.7	-	3	400	c.337C>T	c.(337-339)Cgt>Tgt	p.R113C	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	113	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	GCCCGCCCACGGTAGCTGCCG	0.677																																						uc002nmb.2		NA																	0				pancreas(1)	1						c.(337-339)CGT>TGT		hyaluronan and proteoglycan link protein 4							44.0	46.0	45.0					19																	19371769		2203	4299	6502	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371769G>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.337C>T	19.37:g.19371769G>A	ENSP00000291481:p.Arg113Cys					HAPLN4_uc002nmc.2_Missense_Mutation_p.R113C	p.R113C	NM_023002	NP_075378	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	392	-			113			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.337C>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.253289	0.80135	.	.	ENSG00000187664	ENST00000291481	T	0.66638	-0.22	4.52	3.42	0.39159	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.307210	0.26338	N	0.024953	T	0.77545	0.4146	M	0.70595	2.14	0.45554	D	0.998502	D	0.89917	1.0	D	0.72625	0.978	T	0.79232	-0.1888	10	0.87932	D	0	-26.9098	9.9175	0.41444	0.0:0.0:0.6623:0.3377	.	113	Q86UW8	HPLN4_HUMAN	C	113	ENSP00000291481:R113C	ENSP00000291481:R113C	R	-	1	0	HAPLN4	19232769	0.998000	0.40836	1.000000	0.80357	0.965000	0.64279	2.219000	0.42899	2.334000	0.79466	0.561000	0.74099	CGT		0.677	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		3	57	0	0	0	0	3	57				
ZNF30	90075	broad.mit.edu	37	19	35435405	35435405	+	Missense_Mutation	SNP	A	A	T	rs372307024		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:35435405A>T	ENST00000601142.1	+	5	1772	c.1535A>T	c.(1534-1536)tAt>tTt	p.Y512F	ZNF30_ENST00000303586.7_Missense_Mutation_p.Y513F|ZNF30_ENST00000426813.2_Missense_Mutation_p.Y431F|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000439785.1_Missense_Mutation_p.Y513F			P17039	ZNF30_HUMAN	zinc finger protein 30	512					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGAAGCCCTATGAGTGTAAG	0.423																																						uc010edp.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1534-1536)TAT>TTT		zinc finger protein 30 isoform b							74.0	82.0	79.0					19																	35435405		2185	4293	6478	SO:0001583	missense	90075				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35435405A>T	X52359	CCDS46044.1, CCDS46045.1	19q13.13	2013-01-08	2006-05-10			ENSG00000168661		"""Zinc fingers, C2H2-type"", ""-"""	13090	protein-coding gene	gene with protein product			"""zinc finger protein 30 (KOX 28)"""				Standard	NM_001099437		Approved	KOX28, DKFZp686N19164, FLJ20562	uc010edq.1	P17039		ENST00000601142.1:c.1535A>T	19.37:g.35435405A>T	ENSP00000469954:p.Tyr512Phe					ZNF30_uc002nxf.2_Missense_Mutation_p.Y431F|ZNF30_uc010edq.1_Missense_Mutation_p.Y513F|ZNF30_uc010edr.1_Missense_Mutation_p.Y513F	p.Y512F	NM_194325	NP_919306	P17039	ZNF30_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)	5	1913	+	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		512			C2H2-type 15.		A5PLP1|A8K320|B4DIC0|Q6N068	Missense_Mutation	SNP	ENST00000601142.1	37	c.1535A>T	CCDS46045.1	.	.	.	.	.	.	.	.	.	.	a	8.045	0.764701	0.15914	.	.	ENSG00000168661	ENST00000439785;ENST00000303586;ENST00000426813;ENST00000342559	T;T	0.18338	2.22;2.22	2.27	-0.0737	0.13734	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06554	0.0168	N	0.03948	-0.315	0.09310	N	1	B;P	0.36974	0.321;0.576	B;B	0.37650	0.108;0.255	T	0.24261	-1.0165	9	0.46703	T	0.11	.	2.6466	0.04986	0.5884:0.0:0.2012:0.2104	.	513;512	P17039-2;P17039	.;ZNF30_HUMAN	F	513;512;431;221	ENSP00000403441:Y513F;ENSP00000416457:Y431F	ENSP00000303889:Y512F	Y	+	2	0	ZNF30	40127245	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-1.254000	0.02874	-0.242000	0.09667	0.416000	0.27883	TAT		0.423	ZNF30-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464432.1	NM_194325		4	27	0	0	0	0	4	27				
DMKN	93099	broad.mit.edu	37	19	36003956	36003956	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:36003956G>A	ENST00000339686.3	-	1	598	c.422C>T	c.(421-423)gCt>gTt	p.A141V	DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.A141V|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.A141V|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.A141V|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.A141V|DMKN_ENST00000447113.2_Missense_Mutation_p.A141V|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.A141V|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000424570.2_Missense_Mutation_p.A141V	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	141	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACTCACCCAAGCACCATTGTG	0.582																																						uc002nzm.3		NA																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(421-423)GCT>GTT		dermokine isoform 2 precursor							63.0	70.0	67.0					19																	36003956		2203	4300	6503	SO:0001583	missense	93099					extracellular region		g.chr19:36003956G>A	BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.422C>T	19.37:g.36003956G>A	ENSP00000342012:p.Ala141Val					DMKN_uc002nzj.2_5'Flank|DMKN_uc002nzk.3_5'Flank|DMKN_uc002nzl.3_5'Flank|DMKN_uc002nzo.3_Missense_Mutation_p.A141V|DMKN_uc002nzn.3_Missense_Mutation_p.A141V|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc010xsw.1_5'Flank|DMKN_uc002nzx.3_5'Flank|DMKN_uc002nzy.3_5'Flank|DMKN_uc002nzz.2_5'Flank|DMKN_uc002oac.3_Missense_Mutation_p.A141V|DMKN_uc010eeb.2_Missense_Mutation_p.A141V|DMKN_uc002oaa.3_Missense_Mutation_p.A141V|DMKN_uc002oab.3_Missense_Mutation_p.A141V	p.A141V	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		1	605	-	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		141			Gly-rich.		A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	ENST00000339686.3	37	c.422C>T	CCDS12463.1	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507374	0.64410	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.25085	2.35;2.12;2.11;1.85;1.86;1.84;1.87;1.82	4.37	0.84	0.18912	.	0.714437	0.11079	N	0.601983	T	0.20901	0.0503	L	0.42245	1.32	0.09310	N	1	B;P;P;B;B;B;B	0.41450	0.395;0.597;0.75;0.395;0.244;0.244;0.244	B;B;B;B;B;B;B	0.40009	0.159;0.199;0.316;0.159;0.092;0.092;0.092	T	0.16041	-1.0416	10	0.87932	D	0	-0.0297	5.8365	0.18609	0.1888:0.1594:0.6517:0.0	.	141;141;141;141;141;141;141	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	V	141	ENSP00000342012:A141V;ENSP00000405503:A141V;ENSP00000391036:A141V;ENSP00000394908:A141V;ENSP00000415277:A141V;ENSP00000414743:A141V;ENSP00000388404:A141V;ENSP00000409513:A141V	ENSP00000342012:A141V	A	-	2	0	DMKN	40695796	0.017000	0.18338	0.699000	0.30290	0.699000	0.40488	1.340000	0.33896	0.492000	0.27815	0.491000	0.48974	GCT		0.582	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		8	39	0	0	0	0	8	39				
ZNF527	84503	broad.mit.edu	37	19	37879433	37879433	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:37879433G>C	ENST00000436120.2	+	5	589	c.482G>C	c.(481-483)aGa>aCa	p.R161T	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	161					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)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTGGGAAAAGAGACAATGAA	0.383																																						uc010efk.1		NA																	0				ovary(2)	2						c.(481-483)AGA>ACA		zinc finger protein 527							86.0	81.0	83.0					19																	37879433		1828	4085	5913	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37879433G>C	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.482G>C	19.37:g.37879433G>C	ENSP00000390179:p.Arg161Thr					ZNF527_uc002ogf.3_Missense_Mutation_p.R129T|ZNF527_uc010xtq.1_RNA	p.R161T	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	593	+			161					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.482G>C	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	2.753	-0.259644	0.05791	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.04	-0.498	0.12019	.	.	.	.	.	T	0.19967	0.0480	N	0.16656	0.425	0.09310	N	0.999994	B;B	0.30281	0.18;0.275	B;B	0.29598	0.048;0.104	T	0.18587	-1.0332	8	0.54805	T	0.06	.	6.2313	0.20736	0.4551:0.0:0.5449:0.0	.	161;129	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	T	161;129;109	.	ENSP00000325231:R129T	R	+	2	0	ZNF527	42571273	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.172000	0.03112	-0.173000	0.10761	0.563000	0.77884	AGA		0.383	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		4	83	0	0	0	0	4	83				
CATSPERG	57828	broad.mit.edu	37	19	38849158	38849158	+	Missense_Mutation	SNP	T	T	C	rs560292125		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:38849158T>C	ENST00000409235.3	+	13	1568	c.1453T>C	c.(1453-1455)Tac>Cac	p.Y485H	CATSPERG_ENST00000410018.1_Missense_Mutation_p.Y445H|CATSPERG_ENST00000215069.4_Missense_Mutation_p.Y478H	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	485					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CTGTAACCCGTACAACAATCT	0.562													T|||	1	0.000199681	0.0	0.0014	5008	,	,		19136	0.0		0.0	False		,,,				2504	0.0					uc002oih.3		NA																	0				ovary(1)|skin(1)	2						c.(1453-1455)TAC>CAC		cation channel, sperm-associated, gamma							90.0	86.0	87.0					19																	38849158		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38849158T>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1453T>C	19.37:g.38849158T>C	ENSP00000386962:p.Tyr485His					CATSPERG_uc002oig.3_Missense_Mutation_p.Y445H|CATSPERG_uc002oif.3_Missense_Mutation_p.Y125H|CATSPERG_uc010efw.2_RNA	p.Y485H	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			13	1540	+			485			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1453T>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940660	0.34283	.	.	ENSG00000099338	ENST00000410018;ENST00000409235;ENST00000409410;ENST00000215069	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	5.84	4.8	0.61643	.	0.594351	0.15974	N	0.235640	T	0.49915	0.1585	M	0.65975	2.015	0.09310	N	1	D;D	0.71674	0.998;0.996	D;D	0.66847	0.947;0.919	T	0.41716	-0.9493	10	0.87932	D	0	-14.601	8.9482	0.35771	0.0:0.0852:0.0:0.9148	.	485;445	Q6ZRH7;B8ZZI7	CTSRG_HUMAN;.	H	445;485;485;478	ENSP00000387057:Y445H;ENSP00000386962:Y485H;ENSP00000386950:Y485H;ENSP00000215069:Y478H	ENSP00000215069:Y478H	Y	+	1	0	CATSPERG	43540998	0.935000	0.31712	0.001000	0.08648	0.080000	0.17528	2.269000	0.43346	0.997000	0.38969	0.459000	0.35465	TAC		0.562	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1	NM_021185		13	70	0	0	0	0	13	70				
ZNF112	7771	broad.mit.edu	37	19	44832196	44832196	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:44832196T>G	ENST00000337401.4	-	5	2220	c.2132A>C	c.(2131-2133)cAt>cCt	p.H711P	ZNF112_ENST00000536500.1_Missense_Mutation_p.H728P|ZNF112_ENST00000354340.4_Missense_Mutation_p.H705P	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	711					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GACACTCTGATGACTCTGAAG	0.458																																						uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(2131-2133)CAT>CCT		zinc finger protein 228 isoform 1							146.0	125.0	132.0					19																	44832196		2203	4300	6503	SO:0001583	missense	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44832196T>G	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2132A>C	19.37:g.44832196T>G	ENSP00000337081:p.His711Pro					ZFP112_uc002ozc.3_Missense_Mutation_p.H705P|ZFP112_uc010xwy.1_Missense_Mutation_p.H728P|ZFP112_uc010xwz.1_Missense_Mutation_p.H710P	p.H711P	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	2245	-			711			C2H2-type 11.		A4FU53|Q9HCA7	Missense_Mutation	SNP	ENST00000337401.4	37	c.2132A>C	CCDS54276.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.437473	0.62955	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	D;D;D	0.86865	-2.18;-2.18;-2.18	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34959	N	0.003554	D	0.96534	0.8869	H	0.99404	4.55	0.44677	D	0.997669	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.997;0.994	D	0.98130	1.0430	10	0.87932	D	0	-23.4444	14.3629	0.66785	0.0:0.0:0.0:1.0	.	710;728;711	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	P	711;711;705;728;710	ENSP00000337081:H711P;ENSP00000346305:H705P;ENSP00000441990:H728P	ENSP00000253426:H710P	H	-	2	0	ZNF285	49524036	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	7.657000	0.83745	2.096000	0.63516	0.533000	0.62120	CAT		0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		8	106	0	0	0	0	8	106				
PNMAL2	57469	broad.mit.edu	37	19	46998632	46998632	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:46998632C>T	ENST00000377655.2	-	1	90	c.91G>A	c.(91-93)Gag>Aag	p.E31K	PNMAL2_ENST00000599531.1_Missense_Mutation_p.E31K|AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000594749.1_Intron			Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	31										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgcctgctccaggccctcc	0.667																																						uc002pes.2		NA																	0				central_nervous_system(1)	1						c.(91-93)GAG>AAG		PNMA-like 2							40.0	44.0	42.0					19																	46998632		2084	4208	6292	SO:0001583	missense	57469							g.chr19:46998632C>T	AB033009	CCDS59400.1	19q13.32	2014-02-12	2012-02-09		ENSG00000204851	ENSG00000204851		"""Paraneoplastic Ma antigens"""	29206	protein-coding gene	gene with protein product			"""PNMA-like 2"""			10574461	Standard	NM_020709		Approved	KIAA1183	uc002pes.2	Q9ULN7		ENST00000377655.2:c.91G>A	19.37:g.46998632C>T	ENSP00000366883:p.Glu31Lys					uc002peu.1_3'UTR	p.E31K	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)	1	538	-		Ovarian(192;0.00965)|all_neural(266;0.0459)	31					C9JGD5|M0R374|Q08E79|Q0D2F9|Q6ZVD1	Missense_Mutation	SNP	ENST00000377655.2	37	c.91G>A		.	.	.	.	.	.	.	.	.	.	C	13.92	2.382011	0.42207	.	.	ENSG00000204851	ENST00000377655	T	0.09445	2.98	2.98	0.612	0.17591	.	.	.	.	.	T	0.05364	0.0142	N	0.17082	0.46	0.09310	N	1	P	0.38677	0.642	B	0.29077	0.098	T	0.36625	-0.9740	9	0.38643	T	0.18	-7.2866	8.685	0.34232	0.0:0.5091:0.4909:0.0	.	31	Q9ULN7	PNML2_HUMAN	K	31	ENSP00000366883:E31K	ENSP00000366883:E31K	E	-	1	0	PNMAL2	51690472	0.001000	0.12720	0.002000	0.10522	0.220000	0.24768	0.685000	0.25378	0.223000	0.20920	0.655000	0.94253	GAG		0.667	PNMAL2-201	KNOWN	basic	protein_coding	protein_coding		NM_020709		27	56	0	0	0	0	27	56				
DHX34	9704	broad.mit.edu	37	19	47856504	47856504	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:47856504C>G	ENST00000328771.4	+	2	566	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	73					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		ATTCCAGAATCTCAAGACCTC	0.537																																						uc010xyn.1		NA																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(217-219)CTC>GTC		DEAH (Asp-Glu-Ala-His) box polypeptide 34							79.0	83.0	82.0					19																	47856504		2203	4300	6503	SO:0001583	missense	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47856504C>G	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.217C>G	19.37:g.47856504C>G	ENSP00000331907:p.Leu73Val					DHX34_uc010elc.1_Missense_Mutation_p.L73V	p.L73V	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	2	558	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	73					B4DMY8	Missense_Mutation	SNP	ENST00000328771.4	37	c.217C>G	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747732	0.30955	.	.	ENSG00000134815	ENST00000328771;ENST00000257252	T	0.02682	4.2	5.84	3.65	0.41850	.	0.523300	0.17341	N	0.177743	T	0.01940	0.0061	N	0.11427	0.14	0.09310	N	1	B;B	0.31581	0.323;0.329	B;B	0.30316	0.114;0.077	T	0.46359	-0.9197	10	0.66056	D	0.02	-7.4335	8.1663	0.31228	0.2755:0.6504:0.0:0.074	.	73;73	Q14147;B4E3G3	DHX34_HUMAN;.	V	73	ENSP00000331907:L73V	ENSP00000257252:L73V	L	+	1	0	DHX34	52548344	0.734000	0.28142	0.836000	0.33094	0.979000	0.70002	1.767000	0.38501	1.427000	0.47276	0.555000	0.69702	CTC		0.537	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		4	111	0	0	0	0	4	111				
ZNF761	388561	broad.mit.edu	37	19	53958826	53958826	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:53958826G>A	ENST00000454407.1	+	0	1518							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AACCTTACAAGTGTAATGAGT	0.418																																						uc010eqp.2		NA																	0				ovary(1)	1						c.(1063-1065)AAG>AAA		zinc finger protein 761							152.0	151.0	151.0					19																	53958826		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958826G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958826G>A						ZNF761_uc010ydy.1_Silent_p.K301K|ZNF761_uc002qbt.1_Silent_p.K301K	p.K355K	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	7	1523	+			355			C2H2-type 6.		Q6ZNB9	Silent	SNP	ENST00000454407.1	37	c.1065G>A																																																																																					0.418	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		5	151	0	0	0	0	5	151				
PEG3	5178	broad.mit.edu	37	19	57327205	57327205	+	Missense_Mutation	SNP	T	T	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:57327205T>G	ENST00000326441.9	-	10	2968	c.2605A>C	c.(2605-2607)Aat>Cat	p.N869H	ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.N869H|PEG3_ENST00000593695.1_Missense_Mutation_p.N743H|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.N745H|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	869					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CGCTTATCATTAAGGTCTGAG	0.438																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2605-2607)AAT>CAT		paternally expressed 3 isoform 1							99.0	95.0	96.0					19																	57327205		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327205T>G	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2605A>C	19.37:g.57327205T>G	ENSP00000326581:p.Asn869His					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.N840H|PEG3_uc002qnv.2_Missense_Mutation_p.N869H|PEG3_uc002qnw.2_Missense_Mutation_p.N745H|PEG3_uc002qnx.2_Missense_Mutation_p.N743H|PEG3_uc010etr.2_Missense_Mutation_p.N869H	p.N869H	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2956	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	869					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2605A>C	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	1.508	-0.550224	0.03996	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02498	4.27;4.27	4.0	-2.38	0.06622	.	1.480460	0.04216	N	0.332617	T	0.02418	0.0074	L	0.29908	0.895	.	.	.	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.48043	-0.9069	9	0.13470	T	0.59	-0.5302	6.5419	0.22385	0.2265:0.0:0.4604:0.313	.	745;869;804	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	H	869	ENSP00000326581:N869H;ENSP00000403051:N869H	ENSP00000326581:N869H	N	-	1	0	ZIM2	62019017	0.000000	0.05858	0.000000	0.03702	0.626000	0.37791	-0.616000	0.05591	-0.503000	0.06586	0.482000	0.46254	AAT		0.438	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			9	76	0	0	0	0	9	76				
ZNF749	388567	broad.mit.edu	37	19	57955191	57955191	+	Silent	SNP	G	G	A	rs560067836	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr19:57955191G>A	ENST00000334181.4	+	3	925	c.675G>A	c.(673-675)gaG>gaA	p.E225E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	225					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)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		GGCCTTATGAGTTCAGTGAAT	0.428													G|||	2	0.000399361	0.0	0.0	5008	,	,		21555	0.0		0.0	False		,,,				2504	0.002					uc002qoq.2		NA																	0					0						c.(673-675)GAG>GAA		zinc finger protein 749							55.0	51.0	52.0					19																	57955191		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955191G>A	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.675G>A	19.37:g.57955191G>A						ZNF547_uc002qpm.3_Intron	p.E225E	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	929	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	225			C2H2-type 3; degenerate.			Silent	SNP	ENST00000334181.4	37	c.675G>A	CCDS33132.2																																																																																				0.428	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		13	56	0	0	0	0	13	56				
RPS27A	6233	broad.mit.edu	37	2	55462059	55462059	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:55462059G>A	ENST00000272317.6	+	5	606	c.282G>A	c.(280-282)aaG>aaA	p.K94K	CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000494539.1_5'Flank|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000406076.1_5'Flank|CLHC1_ENST00000407122.1_5'Flank|RPS27A_ENST00000404735.1_Silent_p.K94K|RPS27A_ENST00000402285.3_Silent_p.K94K	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	94	Lys-rich (highly basic).				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|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)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			cervix(1)|ovary(1)|urinary_tract(1)	3						ATAAGCACAAGAGAAAGAAGG	0.398																																						uc010yow.1		NA																	0				ovary(1)	1						c.(280-282)AAG>AAA		ubiquitin and ribosomal protein S27a precursor							58.0	54.0	55.0					2																	55462059		2203	4297	6500	SO:0001819	synonymous_variant	6233				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	metal ion binding|structural constituent of ribosome	g.chr2:55462059G>A	AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.282G>A	2.37:g.55462059G>A						C2orf63_uc002ryh.2_5'Flank|C2orf63_uc002ryi.2_5'Flank|C2orf63_uc002ryj.2_5'Flank|RPS27A_uc002ryk.2_Silent_p.K94K|RPS27A_uc002ryl.2_RNA|RPS27A_uc002rym.2_RNA	p.K94K	NM_001135592	NP_001129064	P62979	RS27A_HUMAN			5	479	+			94			Lys-rich (highly basic).		P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000272317.6	37	c.282G>A	CCDS33202.1																																																																																				0.398	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324423.15			12	17	0	0	0	0	12	17				
USP34	9736	broad.mit.edu	37	2	61570972	61570972	+	Silent	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:61570972A>G	ENST00000398571.2	-	16	2554	c.2478T>C	c.(2476-2478)atT>atC	p.I826I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	826					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTTCATGGTAAATGGAAGCTA	0.363																																						uc002sbe.2		NA																	0				ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1)	19						c.(2476-2478)ATT>ATC		ubiquitin specific protease 34							135.0	125.0	128.0					2																	61570972		1900	4121	6021	SO:0001819	synonymous_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61570972A>G	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2478T>C	2.37:g.61570972A>G							p.I826I	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		16	2500	-			826					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	c.2478T>C	CCDS42686.1																																																																																				0.363	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			17	94	0	0	0	0	17	94				
CLEC4F	165530	broad.mit.edu	37	2	71036884	71036884	+	Missense_Mutation	SNP	C	C	T	rs201579889		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:71036884C>T	ENST00000272367.2	-	6	1721	c.1645G>A	c.(1645-1647)Gcc>Acc	p.A549T	CLEC4F_ENST00000426626.1_Missense_Mutation_p.A549T	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	549	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TTGTTCTGGGCGGCGTTGAAT	0.557													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19485	0.0		0.0	False		,,,				2504	0.0				Colon(107;10 2157 6841 26035)	uc002shf.2		NA																	0				ovary(5)	5						c.(1645-1647)GCC>ACC		C-type lectin, superfamily member 13							166.0	139.0	148.0					2																	71036884		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71036884C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.1645G>A	2.37:g.71036884C>T	ENSP00000272367:p.Ala549Thr					CLEC4F_uc010yqv.1_Missense_Mutation_p.A549T	p.A549T	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN			6	1722	-			549			Extracellular (Potential).|C-type lectin.		A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.1645G>A	CCDS1910.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	7.632	0.679156	0.14907	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.15256	2.44;2.44	4.29	-1.04	0.10068	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	.	.	.	.	T	0.07413	0.0187	N	0.13043	0.29	0.09310	N	1	B;B	0.19583	0.037;0.005	B;B	0.12837	0.008;0.006	T	0.39210	-0.9625	9	0.21540	T	0.41	.	3.1153	0.06372	0.3151:0.4028:0.0:0.2821	.	549;549	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	T	549	ENSP00000272367:A549T;ENSP00000390581:A549T	ENSP00000272367:A549T	A	-	1	0	CLEC4F	70890392	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.420000	0.02457	-0.517000	0.06461	-0.459000	0.05422	GCC		0.557	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		11	56	0	0	0	0	11	56				
GCC2	9648	broad.mit.edu	37	2	109116150	109116150	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:109116150A>G	ENST00000309863.6	+	22	5638	c.4924A>G	c.(4924-4926)Ata>Gta	p.I1642V		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1642	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.|Mediates interaction with RAB9A.				Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TCTTCCTGTTATAAATACGAT	0.443																																						uc002tec.2		NA																	0				ovary(1)	1						c.(4924-4926)ATA>GTA		GRIP and coiled-coil domain-containing 2							122.0	116.0	118.0					2																	109116150		2200	4278	6478	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109116150A>G	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4924A>G	2.37:g.109116150A>G	ENSP00000307939:p.Ile1642Val					GCC2_uc002ted.2_Missense_Mutation_p.I1541V	p.I1642V	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			22	5078	+			1642			Mediates interaction with RAB9A.|GRIP.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4924A>G	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	a	12.13	1.846932	0.32606	.	.	ENSG00000135968	ENST00000309863	T	0.44482	0.92	5.13	3.98	0.46160	GRIP (3);	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	L	0.28054	0.825	0.46631	D	0.999136	B	0.15141	0.012	B	0.14578	0.011	T	0.05241	-1.0897	10	0.44086	T	0.13	.	10.6242	0.45497	0.924:0.0:0.076:0.0	.	1642	Q8IWJ2	GCC2_HUMAN	V	1642	ENSP00000307939:I1642V	ENSP00000307939:I1642V	I	+	1	0	GCC2	108482582	1.000000	0.71417	0.117000	0.21633	0.826000	0.46750	6.798000	0.75155	0.808000	0.34231	0.439000	0.28862	ATA		0.443	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		19	277	0	0	0	0	19	277				
SMPD4	55627	broad.mit.edu	37	2	130911487	130911487	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:130911487T>A	ENST00000409031.1	-	17	2946	c.1798A>T	c.(1798-1800)Atc>Ttc	p.I600F	SMPD4_ENST00000453750.1_Missense_Mutation_p.I349F|SMPD4_ENST00000426662.2_Missense_Mutation_p.I236F|SMPD4_ENST00000339679.7_Missense_Mutation_p.I458F|SMPD4_ENST00000452225.2_Missense_Mutation_p.I341F|SMPD4_ENST00000431183.2_Missense_Mutation_p.I498F|SMPD4_ENST00000443958.2_Missense_Mutation_p.I264F|SMPD4_ENST00000473720.1_5'Flank|SMPD4_ENST00000351288.6_Missense_Mutation_p.I571F	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	561					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	GCCTGTGTGATGAGCTGAGCG	0.642																																						uc002tqq.1		NA																	0					0						c.(1798-1800)ATC>TTC		sphingomyelin phosphodiesterase 4 isoform 2	Phosphatidylserine(DB00144)						53.0	48.0	50.0					2																	130911487		2202	4300	6502	SO:0001583	missense	55627				sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity	g.chr2:130911487T>A	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.1798A>T	2.37:g.130911487T>A	ENSP00000386531:p.Ile600Phe					SMPD4_uc002tqo.1_Missense_Mutation_p.I132F|SMPD4_uc002tqp.1_Missense_Mutation_p.I339F|SMPD4_uc010yzy.1_Missense_Mutation_p.I349F|SMPD4_uc010yzz.1_Missense_Mutation_p.I264F|SMPD4_uc002tqr.1_Missense_Mutation_p.I571F|SMPD4_uc002tqs.1_Missense_Mutation_p.I468F|SMPD4_uc002tqt.1_Missense_Mutation_p.I449F|SMPD4_uc010zaa.1_Missense_Mutation_p.I458F|SMPD4_uc010zab.1_Missense_Mutation_p.I498F|SMPD4_uc010zac.1_Missense_Mutation_p.I341F|SMPD4_uc010zad.1_Missense_Mutation_p.I236F	p.I600F	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN			17	2318	-	Colorectal(110;0.1)		561					B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000409031.1	37	c.1798A>T	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	24.6	4.548546	0.86127	.	.	ENSG00000136699	ENST00000351288;ENST00000409031;ENST00000431183;ENST00000453750;ENST00000443958;ENST00000339679;ENST00000452225;ENST00000426662;ENST00000457039;ENST00000449159	.	.	.	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.77025	0.4070	M	0.81497	2.545	0.58432	D	0.999998	D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;0.997;0.997;0.999;0.984;0.998;0.999;0.984;1.0	D;D;D;P;D;D;D;D;D;D	0.78314	0.982;0.973;0.931;0.901;0.991;0.964;0.984;0.984;0.964;0.988	T	0.78069	-0.2348	9	0.51188	T	0.08	.	10.4323	0.44415	0.0:0.0:0.0:1.0	.	236;341;498;458;349;532;561;600;607;132	B4E0L6;B4DQ31;E7ESA2;B4E0T5;B4DM23;Q9NXE4-2;Q9NXE4;B1PBA3;Q9NXE4-4;Q9NXE4-5	.;.;.;.;.;.;NSMA3_HUMAN;.;.;.	F	571;600;498;349;264;458;341;236;197;110	.	ENSP00000339721:I458F	I	-	1	0	SMPD4	130627957	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.411000	0.80078	1.326000	0.45319	0.454000	0.30748	ATC		0.642	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254516.3	NM_017751		3	35	0	0	0	0	3	35				
NEB	4703	broad.mit.edu	37	2	152385794	152385794	+	Missense_Mutation	SNP	G	G	C	rs368952983		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:152385794G>C	ENST00000172853.10	-	118	16709	c.16562C>G	c.(16561-16563)tCc>tGc	p.S5521C	NEB_ENST00000409198.1_Missense_Mutation_p.S5521C|NEB_ENST00000427231.2_Missense_Mutation_p.S7222C|NEB_ENST00000604864.1_Missense_Mutation_p.S7222C|NEB_ENST00000603639.1_Missense_Mutation_p.S7222C|NEB_ENST00000397345.3_Missense_Mutation_p.S7222C			P20929	NEBU_HUMAN	nebulin	5521					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTGCAGTTGGATTTATTTCT	0.393																																						uc010fnx.2		NA																	0				ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1)	20						c.(16561-16563)TCC>TGC		nebulin isoform 3							213.0	199.0	203.0					2																	152385794		1895	4133	6028	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152385794G>C	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.16562C>G	2.37:g.152385794G>C	ENSP00000172853:p.Ser5521Cys					NEB_uc002txr.2_Missense_Mutation_p.S1944C|NEB_uc002txt.3_Missense_Mutation_p.S26C	p.S5521C	NM_004543	NP_004534	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	118	16753	-			5521					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.16562C>G		.	.	.	.	.	.	.	.	.	.	G	17.74	3.464164	0.63513	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.8	5.8	0.92144	.	0.108147	0.64402	D	0.000008	T	0.51041	0.1651	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.981;0.982;0.998	T	0.48468	-0.9033	10	0.62326	D	0.03	.	15.5335	0.75983	0.0:0.1374:0.8626:0.0	.	5521;7222;1952	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	C	5521;7222;7222;1570;1952;5521	ENSP00000386259:S5521C;ENSP00000380505:S7222C;ENSP00000416578:S7222C;ENSP00000410961:S1952C;ENSP00000172853:S5521C	ENSP00000172853:S5521C	S	-	2	0	NEB	152094040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.821000	0.86641	2.741000	0.93983	0.650000	0.86243	TCC		0.393	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	40	0	0	0	0	5	40				
CYTIP	9595	broad.mit.edu	37	2	158272595	158272595	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:158272595C>T	ENST00000264192.3	-	8	795	c.674G>A	c.(673-675)gGa>gAa	p.G225E	CYTIP_ENST00000540637.1_Missense_Mutation_p.G119E	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	225					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGGCAGGGGTCCAAACAAAGA	0.498																																						uc002tzj.1		NA																	0				ovary(1)|kidney(1)|skin(1)	3						c.(673-675)GGA>GAA		cytohesin 1 interacting protein							55.0	51.0	52.0					2																	158272595		2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158272595C>T	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.674G>A	2.37:g.158272595C>T	ENSP00000264192:p.Gly225Glu					CYTIP_uc010zcl.1_Missense_Mutation_p.G119E	p.G225E	NM_004288	NP_004279	O60759	CYTIP_HUMAN			8	746	-			225					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.674G>A	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573413	0.45902	.	.	ENSG00000115165	ENST00000264192;ENST00000540637;ENST00000418920	T;T;T	0.58940	2.08;0.8;0.3	5.71	3.59	0.41128	.	0.452242	0.23626	N	0.046200	T	0.46698	0.1406	L	0.50919	1.6	0.39353	D	0.965782	B	0.20887	0.049	B	0.19666	0.026	T	0.44862	-0.9300	10	0.35671	T	0.21	-8.8592	6.2825	0.21015	0.1412:0.6289:0.0:0.2298	.	225	O60759	CYTIP_HUMAN	E	225;119;119	ENSP00000264192:G225E;ENSP00000440801:G119E;ENSP00000394308:G119E	ENSP00000264192:G225E	G	-	2	0	CYTIP	157980841	0.926000	0.31397	0.904000	0.35570	0.104000	0.19210	1.035000	0.30216	1.420000	0.47138	0.655000	0.94253	GGA		0.498	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		11	41	0	0	0	0	11	41				
PPIG	9360	broad.mit.edu	37	2	170492733	170492733	+	Silent	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:170492733G>T	ENST00000260970.3	+	13	1369	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	PPIG_ENST00000448752.2_Silent_p.G383G|PPIG_ENST00000409714.3_Silent_p.G368G|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	383					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GGATCAAGGGGGATAAGTAAG	0.353																																						uc002uez.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1147-1149)GGG>GGT		peptidylprolyl isomerase G	L-Proline(DB00172)						84.0	86.0	85.0					2																	170492733		2203	4300	6503	SO:0001819	synonymous_variant	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170492733G>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1149G>T	2.37:g.170492733G>T						PPIG_uc010fpx.2_Silent_p.G368G|PPIG_uc010fpy.2_Silent_p.G376G|PPIG_uc002ufb.2_Silent_p.G383G|PPIG_uc002ufd.2_Silent_p.G380G	p.G383G	NM_004792	NP_004783	Q13427	PPIG_HUMAN			13	1369	+			383					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Silent	SNP	ENST00000260970.3	37	c.1149G>T	CCDS2235.1																																																																																				0.353	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			12	74	1	0	4.37e-10	5.06e-10	12	74				
TTN	7273	broad.mit.edu	37	2	179434069	179434069	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:179434069C>G	ENST00000591111.1	-	276	72091	c.71867G>C	c.(71866-71868)aGa>aCa	p.R23956T	TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R25597T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R23029T|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R16657T|TTN_ENST00000460472.2_Missense_Mutation_p.R16532T|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16724T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	23956					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGAACTCTCACAGTAAC	0.423																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(69085-69087)AGA>ACA		titin isoform N2-A							164.0	158.0	160.0					2																	179434069		1890	4123	6013	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179434069C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.71867G>C	2.37:g.179434069C>G	ENSP00000465570:p.Arg23956Thr					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R16724T|TTN_uc010zfi.1_Missense_Mutation_p.R16657T|TTN_uc010zfj.1_Missense_Mutation_p.R16532T	p.R23029T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	69310	-			23956					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69086G>C		.	.	.	.	.	.	.	.	.	.	C	12.71	2.020468	0.35606	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1	5.93	5.05	0.67936	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65995	0.2745	L	0.28115	0.83	0.53005	D	0.999964	D;D;D;D	0.58268	0.982;0.961;0.961;0.967	P;P;P;P	0.59825	0.864;0.617;0.617;0.76	T	0.70831	-0.4765	9	0.87932	D	0	.	15.5096	0.75769	0.0:0.933:0.0:0.067	.	16532;16657;16724;23956	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	23029;16532;16724;16657;16530	ENSP00000343764:R23029T;ENSP00000434586:R16532T;ENSP00000340554:R16724T;ENSP00000352154:R16657T	ENSP00000340554:R16724T	R	-	2	0	TTN	179142315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.960000	0.63673	1.484000	0.48361	0.655000	0.94253	AGA		0.423	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		12	161	0	0	0	0	12	161				
TTN	7273	broad.mit.edu	37	2	179664379	179664379	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:179664379G>A	ENST00000591111.1	-	6	973	c.749C>T	c.(748-750)cCa>cTa	p.P250L	TTN_ENST00000589042.1_Missense_Mutation_p.P250L|TTN_ENST00000360870.5_Missense_Mutation_p.P250L|TTN_ENST00000342992.6_Missense_Mutation_p.P250L|TTN_ENST00000359218.5_Missense_Mutation_p.P250L|TTN_ENST00000460472.2_Missense_Mutation_p.P250L|TTN_ENST00000342175.6_Missense_Mutation_p.P250L			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTTTATGTGGCAGCTGTTG	0.498																																						uc002und.2		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(748-750)CCA>CTA		Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein.							112.0	107.0	109.0					2																	179664379		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179664379G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.749C>T	2.37:g.179664379G>A	ENSP00000465570:p.Pro250Leu					TTN_uc010zfg.1_Missense_Mutation_p.P250L|TTN_uc010zfh.1_Missense_Mutation_p.P250L|TTN_uc010zfi.1_Missense_Mutation_p.P250L|TTN_uc010zfj.1_Missense_Mutation_p.P250L|TTN_uc002unb.2_Missense_Mutation_p.P250L	p.P250L			Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		6	974	-			250					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.749C>T		.	.	.	.	.	.	.	.	.	.	G	21.0	4.086601	0.76642	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.64260	-0.09;0.06;0.04;0.03;0.15	6.02	6.02	0.97574	.	.	.	.	.	T	0.76162	0.3949	L	0.54323	1.7	0.45580	D	0.998528	P;P;P;P;D	0.67145	0.919;0.919;0.919;0.919;0.996	B;B;B;B;D	0.64237	0.321;0.321;0.401;0.401;0.923	T	0.76168	-0.3058	9	0.87932	D	0	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	250;250;250;250;250	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	L	250	ENSP00000343764:P250L;ENSP00000434586:P250L;ENSP00000340554:P250L;ENSP00000352154:P250L;ENSP00000354117:P250L	ENSP00000340554:P250L	P	-	2	0	TTN	179372624	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.863000	0.87023	2.865000	0.98341	0.655000	0.94253	CCA		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		19	47	0	0	0	0	19	47				
HECW2	57520	broad.mit.edu	37	2	197105285	197105285	+	Splice_Site	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:197105285A>G	ENST00000260983.3	-	21	3834	c.3652T>C	c.(3652-3654)Tta>Cta	p.L1218L	HECW2_ENST00000409111.1_Splice_Site_p.L862L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CGGATAATTAACCTGTCCATA	0.308																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(3652-3654)TTA>CTA		HECT, C2 and WW domain containing E3 ubiquitin							62.0	63.0	63.0					2																	197105285		2203	4300	6503	SO:0001630	splice_region_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197105285A>G	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3651-1T>C	2.37:g.197105285A>G						HECW2_uc002utl.1_Silent_p.L862L	p.L1218L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			21	3835	-			1218					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Silent	SNP	ENST00000260983.3	37	c.3652T>C	CCDS33354.1																																																																																				0.308	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760	Silent	10	50	0	0	0	0	10	50				
FAM117B	150864	broad.mit.edu	37	2	203621983	203621983	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:203621983G>A	ENST00000392238.2	+	6	1152	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	FAM117B_ENST00000303116.6_Silent_p.Q140Q			Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	384										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						CCCTTGTACAGAGAAGTAGCA	0.498																																						uc010zhx.1		NA																	0				ovary(1)	1						c.(1150-1152)CAG>CAA		amyotrophic lateral sclerosis 2 (juvenile)							62.0	61.0	61.0					2																	203621983		2203	4300	6503	SO:0001819	synonymous_variant	150864							g.chr2:203621983G>A	AB053315	CCDS33362.1, CCDS33362.2	2q33	2008-08-18	2008-08-18	2008-08-18	ENSG00000138439	ENSG00000138439			14440	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 13"""	ALS2CR13		11586298	Standard	NM_173511		Approved	FLJ38771	uc010zhx.2	Q6P1L5	OTTHUMG00000154550	ENST00000392238.2:c.1152G>A	2.37:g.203621983G>A							p.Q384Q	NM_173511	NP_775782	Q6P1L5	F117B_HUMAN			6	1162	+			384					Q53QZ5|Q585T9|Q8N8W1|Q96Q34	Silent	SNP	ENST00000392238.2	37	c.1152G>A	CCDS33362.2																																																																																				0.498	FAM117B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000335888.3	NM_173511		4	50	0	0	0	0	4	50				
UGT1A4	54657	broad.mit.edu	37	2	234627538	234627538	+	Silent	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:234627538C>G	ENST00000373409.3	+	1	115	c.72C>G	c.(70-72)ccC>ccG	p.P24P	UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron	NM_007120.2	NP_009051.1	P22310	UD14_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A4	24			P -> T (in dbSNP:rs6755571). {ECO:0000269|PubMed:19204906}.		cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	Asenapine(DB06216)|Clozapine(DB00363)|Ezogabine(DB04953)|Lamotrigine(DB00555)|Midazolam(DB00683)|Paricalcitol(DB00910)|Tamoxifen(DB00675)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)	GTGTCCAGCCCTGGGCTGAGA	0.657																																					Melanoma(99;1011 1962 13201 26492)	uc002vux.2		NA																	0				skin(1)	1						c.(70-72)CCC>CCG		UDP glycosyltransferase 1 family, polypeptide A4	Imipramine(DB00458)|Lamotrigine(DB00555)|Paricalcitol(DB00910)|Trifluoperazine(DB00831)						53.0	51.0	52.0					2																	234627538		2203	4300	6503	SO:0001819	synonymous_variant	54657				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr2:234627538C>G	M84128	CCDS33405.1	2q37.1	2014-01-10	2005-07-20		ENSG00000244474	ENSG00000244474		"""UDP glucuronosyltransferases"""	12536	other	complex locus constituent		606429	"""UDP glycosyltransferase 1 family, polypeptide A4"""			9295054, 1339448	Standard	NM_007120		Approved	HUG-BR2, UGT1D	uc002vux.3	P22310	OTTHUMG00000059119	ENST00000373409.3:c.72C>G	2.37:g.234627538C>G						UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Silent_p.P24P	p.P24P	NM_007120	NP_009051	P22310	UD14_HUMAN		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)	1	101	+		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)	24					B2R937|B8K288|Q5DT00	Silent	SNP	ENST00000373409.3	37	c.72C>G	CCDS33405.1																																																																																				0.657	UGT1A4-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130984.1	NM_007120		10	58	0	0	0	0	10	58				
ANKMY1	51281	broad.mit.edu	37	2	241463753	241463753	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr2:241463753T>C	ENST00000272972.3	-	7	1328	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	ANKMY1_ENST00000462004.1_5'Flank|ANKMY1_ENST00000536462.1_Missense_Mutation_p.M184V|ANKMY1_ENST00000405523.3_Missense_Mutation_p.M231V|ANKMY1_ENST00000403283.1_Missense_Mutation_p.M310V|ANKMY1_ENST00000406958.1_Missense_Mutation_p.M231V|ANKMY1_ENST00000405002.1_Missense_Mutation_p.M142V|ANKMY1_ENST00000401804.1_Missense_Mutation_p.M461V|ANKMY1_ENST00000391987.1_Missense_Mutation_p.M372V|ANKMY1_ENST00000373320.4_Missense_Mutation_p.M142V|ANKMY1_ENST00000361678.4_Missense_Mutation_p.M231V|ANKMY1_ENST00000373318.2_Missense_Mutation_p.M231V	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	372							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TTTGTGTCCATAAATGATGAT	0.463																																						uc002vyz.1		NA																	0				central_nervous_system(1)	1						c.(1114-1116)ATG>GTG		ankyrin repeat and MYND domain containing 1							49.0	52.0	51.0					2																	241463753		2203	4298	6501	SO:0001583	missense	51281						zinc ion binding	g.chr2:241463753T>C	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.1114A>G	2.37:g.241463753T>C	ENSP00000272972:p.Met372Val					ANKMY1_uc002vza.1_Missense_Mutation_p.M231V|ANKMY1_uc010fzd.1_Missense_Mutation_p.M461V|ANKMY1_uc002vzb.1_Missense_Mutation_p.M231V|ANKMY1_uc002vzc.1_Missense_Mutation_p.M231V|ANKMY1_uc002vzd.1_Missense_Mutation_p.M231V|ANKMY1_uc010fze.1_Missense_Mutation_p.M41V|ANKMY1_uc002vze.2_Missense_Mutation_p.M133V	p.M372V	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	7	1343	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	372					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.1114A>G	CCDS2536.1	.	.	.	.	.	.	.	.	.	.	T	0.509	-0.867291	0.02590	.	.	ENSG00000144504	ENST00000373318;ENST00000406958;ENST00000272972;ENST00000361678;ENST00000391987;ENST00000373320;ENST00000403283;ENST00000401804;ENST00000536462;ENST00000405523;ENST00000405002	T;T;T;T;T;T;T;T;T;T;T	0.53640	3.02;3.76;0.62;2.34;0.62;4.49;2.57;0.61;2.34;2.31;2.62	2.95	-1.6	0.08426	Ankyrin repeat-containing domain (1);	2.760190	0.01881	N	0.037841	T	0.28333	0.0700	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B	0.22414	0.0;0.0;0.002;0.0;0.003;0.069;0.0	B;B;B;B;B;B;B	0.21151	0.0;0.0;0.003;0.0;0.0;0.033;0.0	T	0.09796	-1.0658	10	0.39692	T	0.17	-39.1411	2.2405	0.04018	0.1538:0.248:0.453:0.1452	.	372;184;142;231;231;231;372	Q4ZFV3;F5H558;Q9P2S6-4;Q6GPI0;B5MBY4;Q9P2S6-2;Q9P2S6	.;.;.;.;.;.;ANKY1_HUMAN	V	231;231;372;231;372;142;310;461;184;231;142	ENSP00000362415:M231V;ENSP00000384555:M231V;ENSP00000272972:M372V;ENSP00000355097:M231V;ENSP00000375847:M372V;ENSP00000362417:M142V;ENSP00000383968:M310V;ENSP00000385887:M461V;ENSP00000444707:M184V;ENSP00000385635:M231V;ENSP00000385145:M142V	ENSP00000272972:M372V	M	-	1	0	ANKMY1	241112426	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.019000	0.03622	-0.348000	0.08286	-0.415000	0.06103	ATG		0.463	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		16	75	0	0	0	0	16	75				
SLC23A2	9962	broad.mit.edu	37	20	4855261	4855261	+	Silent	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:4855261T>A	ENST00000379333.1	-	10	1298	c.906A>T	c.(904-906)ggA>ggT	p.G302G	SLC23A2_ENST00000424750.2_Silent_p.G188G|SLC23A2_ENST00000338244.1_Silent_p.G302G|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	302					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACGCAGTCCATCCTTTCTTGG	0.383																																						uc002wlg.1		NA																	0				ovary(2)	2						c.(904-906)GGA>GGT		solute carrier family 23 (nucleobase							175.0	172.0	173.0					20																	4855261		2203	4300	6503	SO:0001819	synonymous_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4855261T>A	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.906A>T	20.37:g.4855261T>A						SLC23A2_uc010zqr.1_Silent_p.G187G|SLC23A2_uc002wlh.1_Silent_p.G302G|SLC23A2_uc002wli.2_Silent_p.G301G	p.G302G	NM_005116	NP_005107	Q9UGH3	S23A2_HUMAN			10	1281	-			302					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	ENST00000379333.1	37	c.906A>T	CCDS13085.1	.	.	.	.	.	.	.	.	.	.	T	1.434	-0.569345	0.03910	.	.	ENSG00000089057	ENST00000423430	.	.	.	5.44	-4.3	0.03710	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48758	-0.9007	4	.	.	.	-9.6059	7.9332	0.29914	0.1008:0.2941:0.0:0.6051	.	.	.	.	L	59	.	.	M	-	1	0	SLC23A2	4803261	1.000000	0.71417	0.815000	0.32552	0.003000	0.03518	0.671000	0.25172	-0.864000	0.04078	-0.912000	0.02778	ATG		0.383	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			7	131	0	0	0	0	7	131				
ZNFX1	57169	broad.mit.edu	37	20	47888006	47888006	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:47888006G>A	ENST00000396105.1	-	3	589	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R115C|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R115C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	115							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R115S(2)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGTGGTCTGCGGTTCCTACAG	0.557																																						uc002xui.2		NA																	2	Substitution - Missense(2)		endometrium(2)	ovary(2)	2						c.(343-345)CGC>TGC		zinc finger, NFX1-type containing 1							274.0	240.0	252.0					20																	47888006		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47888006G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.343C>T	20.37:g.47888006G>A	ENSP00000379412:p.Arg115Cys						p.R115C	NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	590	-			115					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.343C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.527226	0.27299	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744	D;D;D;T	0.88046	-2.06;-2.33;-2.33;-0.96	5.97	4.97	0.65823	.	0.730054	0.13345	N	0.394848	T	0.81216	0.4776	L	0.40543	1.245	0.30193	N	0.799343	D	0.61697	0.99	B	0.39660	0.306	T	0.79617	-0.1729	10	0.51188	T	0.08	-2.3985	11.674	0.51419	0.0:0.0:0.8236:0.1764	.	115	Q9P2E3	ZNFX1_HUMAN	C	115	ENSP00000360819:R115C;ENSP00000360817:R115C;ENSP00000379412:R115C;ENSP00000360809:R115C	ENSP00000360809:R115C	R	-	1	0	ZNFX1	47321413	0.215000	0.23574	0.992000	0.48379	0.495000	0.33615	0.934000	0.28910	2.836000	0.97738	0.655000	0.94253	CGC		0.557	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		19	244	0	0	0	0	19	244				
SALL4	57167	broad.mit.edu	37	20	50407919	50407919	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr20:50407919G>A	ENST00000217086.4	-	2	1214	c.1103C>T	c.(1102-1104)gCg>gTg	p.A368V	SALL4_ENST00000395997.3_Missense_Mutation_p.A368V|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	368					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACATCCACCGCGGAGATGTT	0.562																																						uc002xwh.3		NA																	0				ovary(2)	2						c.(1102-1104)GCG>GTG		sal-like 4							72.0	72.0	72.0					20																	50407919		2203	4300	6503	SO:0001583	missense	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50407919G>A	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.1103C>T	20.37:g.50407919G>A	ENSP00000217086:p.Ala368Val					SALL4_uc010gii.2_Missense_Mutation_p.A368V|SALL4_uc002xwi.3_Intron	p.A368V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN			2	1204	-			368					A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	ENST00000217086.4	37	c.1103C>T	CCDS13438.1	.	.	.	.	.	.	.	.	.	.	G	3.462	-0.109774	0.06924	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.09630	2.96;3.31	5.29	4.24	0.50183	.	0.316055	0.23148	N	0.051386	T	0.04452	0.0122	N	0.12182	0.205	0.37750	D	0.925949	B;P	0.44090	0.003;0.826	B;B	0.36885	0.002;0.235	T	0.43972	-0.9358	10	0.15952	T	0.53	-14.2106	6.2814	0.21009	0.2222:0.0:0.7778:0.0	.	368;368	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	V	368	ENSP00000217086:A368V;ENSP00000379319:A368V	ENSP00000217086:A368V	A	-	2	0	SALL4	49841326	0.203000	0.23435	0.873000	0.34254	0.965000	0.64279	2.251000	0.43187	2.466000	0.83321	0.655000	0.94253	GCG		0.562	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			8	56	0	0	0	0	8	56				
BAGE2	85319	broad.mit.edu	37	21	11049619	11049619	+	RNA	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr21:11049619T>A	ENST00000470054.1	-	0	489							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCATCTTCCTTCGCTATAATT	0.373																																						uc002yit.1		NA																	0					0						c.(280-282)CGA>CGT		B melanoma antigen family, member 2 precursor							137.0	98.0	110.0					21																	11049619		692	1591	2283			85319							g.chr21:11049619T>A	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049619T>A							p.R94R	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	4	490	-								A8K925|Q08ER0	Silent	SNP	ENST00000470054.1	37	c.282A>T																																																																																					0.373	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		7	205	0	0	0	0	7	205				
GNB1L	54584	broad.mit.edu	37	22	19808242	19808242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:19808242G>A	ENST00000329517.6	-	4	369	c.133C>T	c.(133-135)Cag>Tag	p.Q45*	GNB1L_ENST00000403325.1_Nonsense_Mutation_p.Q45*|GNB1L_ENST00000405009.1_Nonsense_Mutation_p.Q45*|GNB1L_ENST00000460402.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	45					G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					AGGCCACTCTGAGACCTGTTT	0.642																																						uc002zqe.1		NA																	0				breast(1)	1						c.(133-135)CAG>TAG		guanine nucleotide binding protein							41.0	45.0	44.0					22																	19808242		2202	4300	6502	SO:0001587	stop_gained	54584				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		g.chr22:19808242G>A	AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.133C>T	22.37:g.19808242G>A	ENSP00000331313:p.Gln45*					GNB1L_uc002zqd.1_Intron|GNB1L_uc002zqf.1_Nonsense_Mutation_p.Q45*	p.Q45*	NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN			3	527	-	Colorectal(54;0.0993)		45			WD 1.		Q9H2S2|Q9H4M4	Nonsense_Mutation	SNP	ENST00000329517.6	37	c.133C>T	CCDS13768.1	.	.	.	.	.	.	.	.	.	.	G	36	5.635648	0.96682	.	.	ENSG00000185838	ENST00000329517;ENST00000403325;ENST00000405009	.	.	.	5.57	3.44	0.39384	.	0.900018	0.09216	U	0.832613	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	-9.0902	3.79	0.08716	0.0876:0.1666:0.573:0.1728	.	.	.	.	X	45	.	ENSP00000331313:Q45X	Q	-	1	0	GNB1L	18188242	0.163000	0.22920	0.967000	0.41034	0.225000	0.24961	1.232000	0.32636	1.304000	0.44892	0.557000	0.71058	CAG		0.642	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075202.1			7	57	0	0	0	0	7	57				
RFPL3	10738	broad.mit.edu	37	22	32756539	32756539	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:32756539G>A	ENST00000249007.4	+	2	879	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RFPL3_ENST00000397468.1_Missense_Mutation_p.R196H|RFPL3_ENST00000382088.3_Missense_Mutation_p.R196H|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3S_ENST00000461833.1_5'Flank	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	225	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GATGGAAGCCGCCTCTCTGCC	0.527																																						uc003amj.2		NA																	0				ovary(1)	1						c.(673-675)CGC>CAC		ret finger protein-like 3 isoform 1							94.0	92.0	92.0					22																	32756539		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756539G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.674G>A	22.37:g.32756539G>A	ENSP00000249007:p.Arg225His					RFPL3_uc010gwn.2_Missense_Mutation_p.R196H|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.R225H	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	879	+			225			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.674G>A	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087535	0.01873	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.60672	0.17;0.17;0.17	1.13	-2.27	0.06846	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.28466	0.0704	N	0.11131	0.1	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.12785	-1.0534	9	0.15066	T	0.55	.	2.8703	0.05615	0.5751:0.0:0.2051:0.2198	.	225	O75679	RFPL3_HUMAN	H	196;225;196	ENSP00000380609:R196H;ENSP00000249007:R225H;ENSP00000371520:R196H	ENSP00000249007:R225H	R	+	2	0	RFPL3	31086539	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	-0.206000	0.09398	-1.773000	0.01290	-1.026000	0.02426	CGC		0.527	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		15	71	0	0	0	0	15	71				
KCNJ4	3761	broad.mit.edu	37	22	38823566	38823566	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr22:38823566G>A	ENST00000303592.3	-	2	830	c.572C>T	c.(571-573)gCg>gTg	p.A191V	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	KCNJ4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	191					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|PDZ domain binding (GO:0030165)			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CGAAATGACCGCGTGGTGGCT	0.637																																						uc003avs.1		NA																	0					0						c.(571-573)GCG>GTG		potassium inwardly-rectifying channel J4							45.0	44.0	44.0					22																	38823566		2203	4300	6503	SO:0001583	missense	3761				synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding	g.chr22:38823566G>A	U07364	CCDS13971.1	22q13.1	2011-07-05			ENSG00000168135	ENSG00000168135		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6265	protein-coding gene	gene with protein product		600504				8016146, 16382105	Standard	NM_152868		Approved	Kir2.3, HIR, HRK1, hIRK2, IRK3	uc003avs.1	P48050	OTTHUMG00000151131	ENST00000303592.3:c.572C>T	22.37:g.38823566G>A	ENSP00000306497:p.Ala191Val					KCNJ4_uc003avt.1_Missense_Mutation_p.A191V	p.A191V	NM_004981	NP_004972	P48050	IRK4_HUMAN			2	669	-	Melanoma(58;0.0286)		191			Cytoplasmic (By similarity).		Q14D44	Missense_Mutation	SNP	ENST00000303592.3	37	c.572C>T	CCDS13971.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.712142	0.89112	.	.	ENSG00000168135	ENST00000303592	D	0.94723	-3.5	4.94	4.94	0.65067	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98043	0.9355	M	0.93375	3.41	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99215	1.0877	10	0.87932	D	0	.	18.5997	0.91244	0.0:0.0:1.0:0.0	.	191	P48050	IRK4_HUMAN	V	191	ENSP00000306497:A191V	ENSP00000306497:A191V	A	-	2	0	KCNJ4	37153512	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	9.818000	0.99354	2.472000	0.83506	0.555000	0.69702	GCG		0.637	KCNJ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321447.1	NM_004981		4	30	0	0	0	0	4	30				
THUMPD3	25917	broad.mit.edu	37	3	9426231	9426231	+	Silent	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:9426231A>G	ENST00000345094.3	+	10	1717	c.1383A>G	c.(1381-1383)gtA>gtG	p.V461V	SETD5-AS1_ENST00000519043.1_RNA|THUMPD3_ENST00000452837.2_Silent_p.V461V|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Silent_p.V461V|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000520629.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	461						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TGCGACACGTATGGCGAAAGG	0.418																																						uc003bro.3		NA																	0				ovary(1)	1						c.(1381-1383)GTA>GTG		THUMP domain containing 3							417.0	365.0	383.0					3																	9426231		2203	4300	6503	SO:0001819	synonymous_variant	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9426231A>G	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1383A>G	3.37:g.9426231A>G						LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Silent_p.V461V	p.V461V	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	10	1531	+	Medulloblastoma(99;0.227)		461					Q9H8V6|Q9NVC1|Q9UFS3	Silent	SNP	ENST00000345094.3	37	c.1383A>G	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	A	4.357	0.065703	0.08388	.	.	ENSG00000134077	ENST00000416603	.	.	.	5.67	-5.36	0.02689	.	.	.	.	.	T	0.47985	0.1475	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48127	-0.9062	4	.	.	.	-17.3004	7.0637	0.25139	0.2646:0.1004:0.5296:0.1053	.	.	.	.	V	232	.	.	M	+	1	0	THUMPD3	9401231	0.978000	0.34361	0.093000	0.20910	0.402000	0.30811	0.022000	0.13511	-0.984000	0.03507	-0.451000	0.05528	ATG		0.418	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		34	108	0	0	0	0	34	108				
BSN	8927	broad.mit.edu	37	3	49690316	49690316	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:49690316G>A	ENST00000296452.4	+	5	3441	c.3327G>A	c.(3325-3327)ctG>ctA	p.L1109L		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1109					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CGGAGGAGCTGAGGCAGGCGG	0.642																																						uc003cxe.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(3325-3327)CTG>CTA		bassoon protein							67.0	71.0	70.0					3																	49690316		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49690316G>A	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3327G>A	3.37:g.49690316G>A							p.L1109L	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	5	3441	+			1109					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.3327G>A	CCDS2800.1																																																																																				0.642	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		13	91	0	0	0	0	13	91				
MITF	4286	broad.mit.edu	37	3	70014334	70014334	+	Missense_Mutation	SNP	G	G	A	rs531830542		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:70014334G>A	ENST00000448226.2	+	10	1643	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	MITF_ENST00000472437.1_Missense_Mutation_p.G448R|MITF_ENST00000394355.2_Missense_Mutation_p.G475R|MITF_ENST00000314589.5_Missense_Mutation_p.G484R|MITF_ENST00000394351.3_Missense_Mutation_p.G399R|MITF_ENST00000328528.6_Missense_Mutation_p.G499R|MITF_ENST00000531774.1_Missense_Mutation_p.G337R|MITF_ENST00000314557.6_Missense_Mutation_p.G393R|MITF_ENST00000352241.4_Missense_Mutation_p.G500R			O75030	MITF_HUMAN	microphthalmia-associated transcription factor	506					bone remodeling (GO:0046849)|camera-type eye development (GO:0043010)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|cell fate commitment (GO:0045165)|melanocyte differentiation (GO:0030318)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		AGTGTCCCCCGGAGCTTCCAA	0.537			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						G|||	1	0.000199681	0.0	0.0	5008	,	,		17222	0.0		0.0	False		,,,				2504	0.001				Melanoma(29;269 969 31479 41502 42961)	uc003dnz.2		NA		Dom	yes		3	3p14.1	4286	A	microphthalmia-associated transcription factor	yes	Waardenburg syndrome type 2|Tietz syndrome	E			melanoma 		0				ovary(2)	2						c.(1498-1500)GGA>AGA		microphthalmia-associated transcription factor							94.0	97.0	96.0					3																	70014334		2203	4300	6503	SO:0001583	missense	4286				melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr3:70014334G>A		CCDS2913.1, CCDS43106.1, CCDS43107.1, CCDS46865.1, CCDS46866.1, CCDS46866.2, CCDS54607.1, CCDS74962.1	3p14.1-p12.3	2014-09-17			ENSG00000187098	ENSG00000187098		"""Basic helix-loop-helix proteins"""	7105	protein-coding gene	gene with protein product	"""homolog of mouse microphthalmia"""	156845	"""Waardenburg syndrome, type 2A"""	WS2A, WS2		8069297, 7874167, 7951321	Standard	NM_198159		Approved	MI, bHLHe32	uc003dnz.3	O75030	OTTHUMG00000149921	ENST00000448226.2:c.1516G>A	3.37:g.70014334G>A	ENSP00000391803:p.Gly506Arg					MITF_uc011bgb.1_Missense_Mutation_p.G448R|MITF_uc003doa.2_Missense_Mutation_p.G499R|MITF_uc003dob.2_Missense_Mutation_p.G484R|MITF_uc003dod.2_Missense_Mutation_p.G475R|MITF_uc003doe.2_Missense_Mutation_p.G393R|MITF_uc003dof.2_Missense_Mutation_p.G399R	p.G500R	NM_198159	NP_937802	O75030	MITF_HUMAN		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)	10	1614	+		Lung NSC(201;0.0384)|Prostate(884;0.0526)	506					B4DJL2|D3K197|E9PFN0|Q14841|Q9P2V0|Q9P2V1|Q9P2V2|Q9P2Y8	Missense_Mutation	SNP	ENST00000448226.2	37	c.1498G>A		.	.	.	.	.	.	.	.	.	.	G	26.5	4.745044	0.89663	.	.	ENSG00000187098	ENST00000352241;ENST00000448226;ENST00000472437;ENST00000328528;ENST00000314589;ENST00000394355;ENST00000314557;ENST00000394351;ENST00000531774	T;T;T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	6.04	6.04	0.98038	.	0.049525	0.85682	D	0.000000	T	0.78329	0.4266	M	0.65498	2.005	0.52099	D	0.999949	D;D;D;D;D;D;D	0.76494	0.999;0.998;0.998;0.998;0.997;0.998;0.995	D;D;D;D;P;P;P	0.67548	0.952;0.935;0.92;0.94;0.883;0.902;0.9	T	0.75124	-0.3428	9	.	.	.	.	20.5792	0.99380	0.0:0.0:1.0:0.0	.	448;399;393;475;484;499;500	E9PFN0;O75030-9;O75030-10;O75030-4;O75030-8;O75030-6;O75030-2	.;.;.;.;.;.;.	R	500;506;448;499;484;475;393;399;337	ENSP00000295600:G500R;ENSP00000391803:G506R;ENSP00000418845:G448R;ENSP00000327867:G499R;ENSP00000324443:G484R;ENSP00000377884:G475R;ENSP00000324246:G393R;ENSP00000377880:G399R;ENSP00000435909:G337R	.	G	+	1	0	MITF	70097024	1.000000	0.71417	0.970000	0.41538	0.633000	0.38033	8.062000	0.89475	2.873000	0.98535	0.561000	0.74099	GGA		0.537	MITF-007	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000313947.1	NM_198159		4	65	0	0	0	0	4	65				
EPHA6	285220	broad.mit.edu	37	3	96706382	96706382	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:96706382A>G	ENST00000389672.5	+	3	697	c.659A>G	c.(658-660)aAt>aGt	p.N220S	EPHA6_ENST00000470610.2_Missense_Mutation_p.N220S|EPHA6_ENST00000542517.1_Missense_Mutation_p.N126S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	126						integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GAAACATTTAATCTGTTTTAT	0.398																																						uc010how.1		NA																	0				stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1)	16						c.(658-660)AAT>AGT		EPH receptor A6 isoform a							116.0	119.0	118.0					3																	96706382		1861	4092	5953	SO:0001583	missense	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:96706382A>G	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000389672.5:c.659A>G	3.37:g.96706382A>G	ENSP00000374323:p.Asn220Ser					EPHA6_uc003drp.1_Missense_Mutation_p.N220S	p.N220S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN			3	702	+			125			Ephrin-binding.|Extracellular (Potential).		D6RAL5	Missense_Mutation	SNP	ENST00000389672.5	37	c.659A>G	CCDS46876.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043777	0.75732	.	.	ENSG00000080224	ENST00000470610;ENST00000389672;ENST00000542517	T;T;T	0.03772	3.81;3.81;3.81	5.74	5.74	0.90152	.	0.000000	0.64402	U	0.000001	T	0.12008	0.0292	M	0.74258	2.255	0.80722	D	1	D;D	0.56968	0.978;0.978	P;P	0.46389	0.515;0.515	T	0.00928	-1.1511	10	0.56958	D	0.05	.	15.2298	0.73378	1.0:0.0:0.0:0.0	.	220;220	B3KS12;E7EU71	.;.	S	220;220;126	ENSP00000420598:N220S;ENSP00000374323:N220S;ENSP00000439758:N126S	ENSP00000374323:N220S	N	+	2	0	EPHA6	98189072	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.339000	0.96797	2.183000	0.69458	0.533000	0.62120	AAT		0.398	EPHA6-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353845.3	NM_001080448		10	161	0	0	0	0	10	161				
KIAA2018	205717	broad.mit.edu	37	3	113377897	113377897	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:113377897C>T	ENST00000478658.1	-	5	2649	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K	KIAA2018_ENST00000316407.4_Missense_Mutation_p.E878K|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	878	Ser-rich.					membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATACAGACTCAGGTATTAAT	0.438																																						uc003eam.2		NA																	0				skin(2)|ovary(1)	3						c.(2632-2634)GAG>AAG		hypothetical protein LOC205717							117.0	110.0	113.0					3																	113377897		1934	4142	6076	SO:0001583	missense	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377897C>T	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2632G>A	3.37:g.113377897C>T	ENSP00000420721:p.Glu878Lys					KIAA2018_uc003eal.2_Missense_Mutation_p.E822K	p.E878K	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	3043	-			878			Ser-rich.		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	ENST00000478658.1	37	c.2632G>A	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.636660	0.00806	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.14022	2.54;2.54	4.81	3.93	0.45458	.	0.699830	0.13873	N	0.356847	T	0.07188	0.0182	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.36553	-0.9743	10	0.14656	T	0.56	.	2.7474	0.05271	0.155:0.537:0.1504:0.1576	.	878	Q68DE3	K2018_HUMAN	K	878	ENSP00000320794:E878K;ENSP00000420721:E878K	ENSP00000320794:E878K	E	-	1	0	KIAA2018	114860587	0.040000	0.19996	0.809000	0.32408	0.418000	0.31294	0.769000	0.26604	2.227000	0.72691	0.650000	0.86243	GAG		0.438	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		40	95	0	0	0	0	40	95				
TM4SF1	4071	broad.mit.edu	37	3	149089484	149089484	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:149089484G>A	ENST00000305366.3	-	4	901	c.584C>T	c.(583-585)tCt>tTt	p.S195F	TM4SF1_ENST00000472441.1_Missense_Mutation_p.S106F	NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	195						integral component of plasma membrane (GO:0005887)				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTGTTGGTGAGAGCAGCAAAA	0.398																																						uc003exb.1		NA																	0					0						c.(583-585)TCT>TTT		transmembrane 4 superfamily member 1							127.0	121.0	123.0					3																	149089484		2203	4300	6503	SO:0001583	missense	4071					integral to plasma membrane		g.chr3:149089484G>A	M90657	CCDS3143.1	3q21-q25	2005-03-21	2005-03-21		ENSG00000169908	ENSG00000169908			11853	protein-coding gene	gene with protein product		191155	"""transmembrane 4 superfamily member 1"""	M3S1		1565644	Standard	NM_014220		Approved	L6	uc003exb.1	P30408	OTTHUMG00000159597	ENST00000305366.3:c.584C>T	3.37:g.149089484G>A	ENSP00000304277:p.Ser195Phe					TM4SF1_uc003exc.1_Missense_Mutation_p.S106F	p.S195F	NM_014220	NP_055035	P30408	T4S1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)		4	818	-			195			Cytoplasmic (Probable).		Q6IB51	Missense_Mutation	SNP	ENST00000305366.3	37	c.584C>T	CCDS3143.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643595	0.67244	.	.	ENSG00000169908	ENST00000305366;ENST00000472441;ENST00000383054	T;T	0.32272	1.46;1.46	5.92	4.09	0.47781	.	26.003000	0.00166	N	0.000000	T	0.57975	0.2090	M	0.67953	2.075	0.36383	D	0.862049	D;P	0.55172	0.97;0.879	P;P	0.57846	0.828;0.745	T	0.35599	-0.9782	10	0.72032	D	0.01	-4.016	16.9343	0.86199	0.0:0.5488:0.4512:0.0	.	106;195	C9J611;P30408	.;T4S1_HUMAN	F	195;106;195	ENSP00000304277:S195F;ENSP00000417084:S106F	ENSP00000304277:S195F	S	-	2	0	TM4SF1	150572174	0.812000	0.29077	0.996000	0.52242	0.885000	0.51271	0.865000	0.27940	0.807000	0.34208	0.650000	0.86243	TCT		0.398	TM4SF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356368.1			29	130	0	0	0	0	29	130				
TNIK	23043	broad.mit.edu	37	3	170928972	170928972	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:170928972C>G	ENST00000436636.2	-	4	583	c.239G>C	c.(238-240)cGg>cCg	p.R80P	TNIK_ENST00000538048.1_Missense_Mutation_p.R80P|TNIK_ENST00000470834.1_Missense_Mutation_p.R80P|TNIK_ENST00000369326.5_Missense_Mutation_p.R80P|TNIK_ENST00000488470.1_Missense_Mutation_p.R80P|TNIK_ENST00000357327.5_Missense_Mutation_p.R80P|TNIK_ENST00000460047.1_Missense_Mutation_p.R80P|TNIK_ENST00000341852.6_Missense_Mutation_p.R80P|TNIK_ENST00000284483.8_Missense_Mutation_p.R80P|TNIK_ENST00000475336.1_Missense_Mutation_p.R80P	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AGCAATATTCCGGTGATGAGA	0.343																																						uc003fhh.2		NA																	0				ovary(4)|large_intestine(1)	5						c.(238-240)CGG>CCG		TRAF2 and NCK interacting kinase isoform 1							129.0	125.0	126.0					3																	170928972		1827	4088	5915	SO:0001583	missense	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170928972C>G	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.239G>C	3.37:g.170928972C>G	ENSP00000399511:p.Arg80Pro					TNIK_uc003fhi.2_Missense_Mutation_p.R80P|TNIK_uc003fhj.2_Missense_Mutation_p.R80P|TNIK_uc003fhk.2_Missense_Mutation_p.R80P|TNIK_uc003fhl.2_Missense_Mutation_p.R80P|TNIK_uc003fhm.2_Missense_Mutation_p.R80P|TNIK_uc003fhn.2_Missense_Mutation_p.R80P|TNIK_uc003fho.2_Missense_Mutation_p.R80P	p.R80P	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		4	584	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		80			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	ENST00000436636.2	37	c.239G>C	CCDS46956.1	.	.	.	.	.	.	.	.	.	.	C	31	5.061655	0.93846	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834;ENST00000468757	T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.97	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.14960	0.0361	N	0.00265	-1.74	0.80722	D	1	D;D;P;D;D;D;P;D	0.89917	0.997;0.999;0.691;1.0;0.999;0.999;0.691;0.999	P;D;P;D;D;D;P;D	0.78314	0.89;0.984;0.538;0.944;0.984;0.984;0.538;0.991	T	0.67998	-0.5525	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	80;80;80;80;80;80;80;80	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	P	80;80;80;80;80;80;80;80;80;80;54	ENSP00000399511:R80P;ENSP00000358332:R80P;ENSP00000443278:R80P;ENSP00000345352:R80P;ENSP00000284483:R80P;ENSP00000418156:R80P;ENSP00000349880:R80P;ENSP00000418916:R80P;ENSP00000418378:R80P;ENSP00000419990:R80P;ENSP00000417338:R54P	ENSP00000284483:R80P	R	-	2	0	TNIK	172411666	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGG		0.343	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		15	76	0	0	0	0	15	76				
KLHL24	54800	broad.mit.edu	37	3	183381346	183381346	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:183381346G>C	ENST00000454652.2	+	5	1407	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	KLHL24_ENST00000476808.1_Missense_Mutation_p.E341Q|KLHL24_ENST00000242810.6_Missense_Mutation_p.E341Q	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24	341						cell projection (GO:0042995)|cytoplasm (GO:0005737)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TGTAACAGGAGAATGGAAGTC	0.413																																						uc003flv.2		NA																	0				ovary(1)	1						c.(1021-1023)GAA>CAA		DRE1 protein							149.0	137.0	141.0					3																	183381346		2203	4300	6503	SO:0001583	missense	54800					axon|cytoplasm|perikaryon		g.chr3:183381346G>C		CCDS3246.1	3q27.1	2013-02-22	2013-02-22		ENSG00000114796	ENSG00000114796		"""Kelch-like"", ""BTB/POZ domain containing"""	25947	protein-coding gene	gene with protein product		611295	"""kelch-like 24 (Drosophila)"""				Standard	XM_005247552		Approved	DRE1, FLJ20059	uc003flv.3	Q6TFL4	OTTHUMG00000156911	ENST00000454652.2:c.1021G>C	3.37:g.183381346G>C	ENSP00000395012:p.Glu341Gln					KLHL24_uc003flw.2_Missense_Mutation_p.E341Q|KLHL24_uc003flx.2_Missense_Mutation_p.E341Q	p.E341Q	NM_017644	NP_060114	Q6TFL4	KLH24_HUMAN	all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)		4	1316	+	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		341			Kelch 1.		A5PLN8|Q9H620|Q9NXT9	Missense_Mutation	SNP	ENST00000454652.2	37	c.1021G>C	CCDS3246.1	.	.	.	.	.	.	.	.	.	.	G	9.776	1.173901	0.21704	.	.	ENSG00000114796	ENST00000242810;ENST00000454652;ENST00000476808	T;T;T	0.66638	-0.22;-0.22;-0.22	5.34	5.34	0.76211	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.46288	0.1385	N	0.04116	-0.275	0.80722	D	1	B;B	0.17038	0.02;0.004	B;B	0.17098	0.009;0.017	T	0.41520	-0.9504	10	0.13470	T	0.59	.	19.4149	0.94690	0.0:0.0:1.0:0.0	.	341;341	Q6TFL4-2;Q6TFL4	.;KLH24_HUMAN	Q	341	ENSP00000242810:E341Q;ENSP00000395012:E341Q;ENSP00000419010:E341Q	ENSP00000242810:E341Q	E	+	1	0	KLHL24	184864040	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.593000	0.82686	2.675000	0.91044	0.462000	0.41574	GAA		0.413	KLHL24-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346586.2	NM_017644		5	111	0	0	0	0	5	111				
ATP13A4	84239	broad.mit.edu	37	3	193166066	193166066	+	Missense_Mutation	SNP	C	C	T	rs144335118		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr3:193166066C>T	ENST00000342695.4	-	18	2403	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ATP13A4_ENST00000392443.3_Missense_Mutation_p.R675Q	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	694						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TTCCTTCAATCGATTCTCCAA	0.393																																						uc003ftd.2		NA																	0				ovary(2)	2						c.(2080-2082)CGA>CAA		ATPase type 13A4		C	GLN/ARG	0,4406		0,0,2203	130.0	122.0	125.0		2081	3.9	1.0	3	dbSNP_134	125	1,8599	1.2+/-3.3	0,1,4299	no	missense	ATP13A4	NM_032279.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	694/1197	193166066	1,13005	2203	4300	6503	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193166066C>T	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2081G>A	3.37:g.193166066C>T	ENSP00000339182:p.Arg694Gln					ATP13A4_uc003fte.1_Missense_Mutation_p.R694Q|ATP13A4_uc011bsr.1_Missense_Mutation_p.R165Q|ATP13A4_uc010hzi.2_RNA	p.R694Q	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	18	2189	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		694			Extracellular (Potential).		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2081G>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	C	16.89	3.247267	0.59103	0.0	1.16E-4	ENSG00000127249	ENST00000392443;ENST00000342695	T;T	0.70164	-0.46;-0.46	4.84	3.93	0.45458	ATPase, cation-transporting, domain N (1);HAD-like domain (2);	0.225560	0.30771	N	0.008917	T	0.60919	0.2306	L	0.58925	1.835	0.80722	D	1	P;P;P	0.41366	0.747;0.693;0.747	B;B;B	0.38458	0.274;0.18;0.274	T	0.63377	-0.6651	10	0.54805	T	0.06	-22.7089	11.2313	0.48914	0.0:0.9049:0.0:0.0951	.	675;694;694	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	Q	675;694	ENSP00000376238:R675Q;ENSP00000339182:R694Q	ENSP00000339182:R694Q	R	-	2	0	ATP13A4	194648760	0.837000	0.29446	0.991000	0.47740	0.984000	0.73092	1.627000	0.37050	1.093000	0.41377	0.650000	0.86243	CGA		0.393	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		13	108	0	0	0	0	13	108				
FGFRL1	53834	broad.mit.edu	37	4	1017629	1017629	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:1017629C>T	ENST00000398484.2	+	6	1038	c.458C>T	c.(457-459)tCc>tTc	p.S153F	FGFRL1_ENST00000264748.6_Missense_Mutation_p.S153F|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S153F|FGFRL1_ENST00000510644.1_Missense_Mutation_p.S153F			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	153	Ig-like C2-type 2.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACACAGCCCTCCAAGATGAGG	0.711																																						uc003gce.2		NA																	0					0						c.(457-459)TCC>TTC		fibroblast growth factor receptor-like 1							10.0	12.0	11.0					4																	1017629		2158	4254	6412	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1017629C>T		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.458C>T	4.37:g.1017629C>T	ENSP00000381498:p.Ser153Phe					FGFRL1_uc003gcf.2_Missense_Mutation_p.S153F|FGFRL1_uc003gcg.2_Missense_Mutation_p.S153F|FGFRL1_uc010ibo.2_Missense_Mutation_p.S153F	p.S153F	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		5	619	+			153			Extracellular (Potential).|Ig-like C2-type 2.		B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.458C>T	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	c	22.3	4.274972	0.80580	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	4.59	4.59	0.56863	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.262206	0.37715	N	0.001973	T	0.44456	0.1294	L	0.41492	1.28	0.42316	D	0.992232	D	0.55385	0.971	P	0.60541	0.876	T	0.46303	-0.9201	10	0.72032	D	0.01	-17.176	16.4208	0.83758	0.0:1.0:0.0:0.0	.	153	Q8N441	FGRL1_HUMAN	F	153;123;153;153;153	ENSP00000381498:S153F;ENSP00000425025:S153F;ENSP00000423091:S153F;ENSP00000264748:S153F	ENSP00000264748:S153F	S	+	2	0	FGFRL1	1007629	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	3.621000	0.54210	2.111000	0.64477	0.466000	0.42574	TCC		0.711	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923		4	8	0	0	0	0	4	8				
HTT	3064	broad.mit.edu	37	4	3201579	3201579	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:3201579C>T	ENST00000355072.5	+	41	5634	c.5489C>T	c.(5488-5490)cCg>cTg	p.P1830L		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1830					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACCACCCACCCGGCCCTGGTG	0.587																																						uc011bvq.1		NA																	0				skin(2)|ovary(1)|lung(1)	4						c.(5494-5496)CCG>CTG		huntingtin							62.0	66.0	65.0					4																	3201579		2040	4203	6243	SO:0001583	missense	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3201579C>T	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5489C>T	4.37:g.3201579C>T	ENSP00000347184:p.Pro1830Leu						p.P1832L	NM_002111	NP_002102	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	42	5640	+		all_epithelial(65;0.18)	1830					Q9UQB7	Missense_Mutation	SNP	ENST00000355072.5	37	c.5495C>T	CCDS43206.1	.	.	.	.	.	.	.	.	.	.	C	34	5.315449	0.95655	.	.	ENSG00000197386	ENST00000355072	T	0.47869	0.83	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.71034	-0.4709	10	0.52906	T	0.07	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	1830	P42858	HD_HUMAN	L	1830	ENSP00000347184:P1830L	ENSP00000347184:P1830L	P	+	2	0	HTT	3171377	1.000000	0.71417	0.999000	0.59377	0.880000	0.50808	7.400000	0.79949	2.873000	0.98535	0.561000	0.74099	CCG		0.587	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	46	0	0	0	0	7	46				
UGT2B15	7366	broad.mit.edu	37	4	69513072	69513072	+	Missense_Mutation	SNP	C	C	A	rs376046316		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:69513072C>A	ENST00000338206.5	-	6	1352	c.1343G>T	c.(1342-1344)aGa>aTa	p.R448I		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	448					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	ATGATGAATTCTTGATAATTT	0.383																																						uc011cal.1		NA																	0					0						c.(1342-1344)AGA>ATA		UDP glycosyltransferase 2B15 precursor							106.0	113.0	111.0					4																	69513072		2203	4296	6499	SO:0001583	missense	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69513072C>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1343G>T	4.37:g.69513072C>A	ENSP00000341045:p.Arg448Ile						p.R448I	NM_001076	NP_001067	P54855	UDB15_HUMAN			6	1381	-			448					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	ENST00000338206.5	37	c.1343G>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	c	11.03	1.517558	0.27123	.	.	ENSG00000196620	ENST00000338206	T	0.62788	0.0	2.96	1.14	0.20703	.	0.300125	0.25241	U	0.032099	T	0.53738	0.1815	M	0.68317	2.08	0.34797	D	0.73629	B	0.12013	0.005	B	0.15484	0.013	T	0.53788	-0.8389	10	0.66056	D	0.02	.	4.8828	0.13688	0.2091:0.6669:0.0:0.1241	.	448	P54855	UDB15_HUMAN	I	448	ENSP00000341045:R448I	ENSP00000341045:R448I	R	-	2	0	UGT2B15	69195667	0.000000	0.05858	0.763000	0.31416	0.819000	0.46315	-0.631000	0.05496	0.021000	0.15133	0.552000	0.68991	AGA		0.383	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		6	118	1	0	0.000157383	0.000169743	6	118				
UGT2B11	10720	broad.mit.edu	37	4	70080064	70080064	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:70080064A>T	ENST00000446444.1	-	1	385	c.377T>A	c.(376-378)tTc>tAc	p.F126Y	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	126					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCTTTACAGAAGTTTCTAAA	0.333																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(376-378)TTC>TAC		UDP glucuronosyltransferase 2 family,							38.0	46.0	43.0					4																	70080064		2194	4286	6480	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70080064A>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.377T>A	4.37:g.70080064A>T	ENSP00000387683:p.Phe126Tyr					uc003hei.1_Intron	p.F126Y	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	386	-			126					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.377T>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	4.898	0.166944	0.09339	.	.	ENSG00000213759	ENST00000446444	T	0.61510	0.1	1.96	0.439	0.16567	.	1.178490	0.06381	U	0.715244	T	0.40694	0.1127	N	0.16708	0.43	0.09310	N	1	B	0.24186	0.099	B	0.38683	0.279	T	0.45381	-0.9265	10	0.02654	T	1	.	5.1295	0.14903	0.7402:0.0:0.0:0.2597	.	126	O75310	UDB11_HUMAN	Y	126	ENSP00000387683:F126Y	ENSP00000387683:F126Y	F	-	2	0	UGT2B11	70114653	0.000000	0.05858	0.003000	0.11579	0.225000	0.24961	0.108000	0.15396	0.898000	0.36418	0.155000	0.16302	TTC		0.333	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		12	79	0	0	0	0	12	79				
CCDC158	339965	broad.mit.edu	37	4	77276585	77276585	+	Missense_Mutation	SNP	C	C	A	rs573689832		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:77276585C>A	ENST00000388914.3	-	14	2330	c.2178G>T	c.(2176-2178)atG>atT	p.M726I	RNU6-1000P_ENST00000391066.1_RNA	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	726										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGCCACTTTCATAGCTGGAA	0.383																																						uc003hkb.3		NA																	0				skin(3)|ovary(2)|pancreas(1)	6						c.(2176-2178)ATG>ATT		coiled-coil domain containing 158							171.0	155.0	160.0					4																	77276585		1860	4102	5962	SO:0001583	missense	339965							g.chr4:77276585C>A	BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2178G>T	4.37:g.77276585C>A	ENSP00000373566:p.Met726Ile						p.M726I	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN			14	2331	-			726			Potential.		Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	c.2178G>T	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	15.40	2.823340	0.50739	.	.	ENSG00000163749	ENST00000388914	T	0.75260	-0.92	5.24	5.24	0.73138	.	0.150450	0.44902	D	0.000402	T	0.60011	0.2236	N	0.14661	0.345	0.80722	D	1	B	0.18610	0.029	B	0.17979	0.02	T	0.55648	-0.8108	10	0.36615	T	0.2	.	15.8409	0.78845	0.0:1.0:0.0:0.0	.	726	Q5M9N0	CD158_HUMAN	I	726	ENSP00000373566:M726I	ENSP00000373566:M726I	M	-	3	0	CCDC158	77495609	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.065000	0.64344	2.719000	0.93026	0.655000	0.94253	ATG		0.383	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784		31	110	1	0	1.81e-10	2.1e-10	31	110				
PTPN13	5783	broad.mit.edu	37	4	87691069	87691069	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:87691069G>C	ENST00000411767.2	+	29	4700	c.4637G>C	c.(4636-4638)gGa>gCa	p.G1546A	PTPN13_ENST00000316707.6_Missense_Mutation_p.G1355A|PTPN13_ENST00000511467.1_Missense_Mutation_p.G1551A|PTPN13_ENST00000427191.2_Missense_Mutation_p.G1527A|PTPN13_ENST00000436978.1_Missense_Mutation_p.G1551A			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1546	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		GCAGAAAGTGGAAAAATTGAT	0.408																																						uc003hpz.2		NA																	0				ovary(4)|breast(1)|kidney(1)	6						c.(4636-4638)GGA>GCA		protein tyrosine phosphatase, non-receptor type							148.0	144.0	145.0					4																	87691069		1876	4102	5978	SO:0001583	missense	5783					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein binding|protein tyrosine phosphatase activity	g.chr4:87691069G>C		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.4637G>C	4.37:g.87691069G>C	ENSP00000407249:p.Gly1546Ala					PTPN13_uc003hpy.2_Missense_Mutation_p.G1551A|PTPN13_uc003hqa.2_Missense_Mutation_p.G1527A|PTPN13_uc003hqb.2_Missense_Mutation_p.G1355A|PTPN13_uc003hqc.1_5'UTR	p.G1546A	NM_080683	NP_542414	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	29	5117	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	1546			PDZ 3.		B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.4637G>C	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980444	0.92982	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03	5.74	5.74	0.90152	PDZ/DHR/GLGF (4);	0.000000	0.49305	D	0.000144	D	0.85492	0.5709	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.965;0.999;1.0;1.0	D	0.88542	0.3110	10	0.87932	D	0	.	19.9357	0.97140	0.0:0.0:1.0:0.0	.	1355;1527;1546;1551	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	A	1527;1551;1355;1546;1551;1495	ENSP00000408368:G1527A;ENSP00000394794:G1551A;ENSP00000322675:G1355A;ENSP00000407249:G1546A;ENSP00000426626:G1551A	ENSP00000322675:G1355A	G	+	2	0	PTPN13	87910093	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.373000	0.79623	2.715000	0.92844	0.655000	0.94253	GGA		0.408	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			7	98	0	0	0	0	7	98				
SPOCK3	50859	broad.mit.edu	37	4	167658711	167658711	+	Missense_Mutation	SNP	T	T	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:167658711T>A	ENST00000357154.3	-	11	1185	c.1048A>T	c.(1048-1050)Aca>Tca	p.T350S	SPOCK3_ENST00000512681.1_Missense_Mutation_p.T252S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.T254S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.T347S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000535728.1_Missense_Mutation_p.T218S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.T347S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.T252S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.T347S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.T350S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541354.1_Missense_Mutation_p.T230S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.T299S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.T307S	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	350	Thyroglobulin type-1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		TGACATTGTGTTGGCTTGTAG	0.423																																						uc003iri.1		NA																	0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1048-1050)ACA>TCA		testican 3 isoform 2							260.0	219.0	233.0					4																	167658711		2203	4300	6503	SO:0001583	missense	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167658711T>A	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1048A>T	4.37:g.167658711T>A	ENSP00000349677:p.Thr350Ser					SPOCK3_uc011cjp.1_Missense_Mutation_p.T307S|SPOCK3_uc011cjq.1_Missense_Mutation_p.T359S|SPOCK3_uc011cjr.1_Missense_Mutation_p.T230S|SPOCK3_uc003irj.1_Missense_Mutation_p.T347S|SPOCK3_uc011cjs.1_Missense_Mutation_p.T299S|SPOCK3_uc011cjt.1_Missense_Mutation_p.T258S|SPOCK3_uc011cju.1_Missense_Mutation_p.T243S|SPOCK3_uc011cjv.1_Missense_Mutation_p.T252S	p.T350S	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	11	1189	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	350			Thyroglobulin type-1.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Missense_Mutation	SNP	ENST00000357154.3	37	c.1048A>T	CCDS54817.1	.	.	.	.	.	.	.	.	.	.	T	11.00	1.509492	0.27036	.	.	ENSG00000196104	ENST00000357154;ENST00000357545;ENST00000504953;ENST00000506886;ENST00000511531;ENST00000502330;ENST00000510741;ENST00000541354;ENST00000512681;ENST00000511269;ENST00000535728;ENST00000421836;ENST00000541637;ENST00000534949	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.41	5.41	0.78517	Thyroglobulin type-1 (6);	0.213974	0.49916	D	0.000132	T	0.68174	0.2972	M	0.84948	2.725	0.37842	D	0.929093	B;B;B;B;B;B;B	0.27068	0.035;0.107;0.167;0.128;0.128;0.041;0.103	B;B;B;B;B;B;B	0.28553	0.052;0.023;0.081;0.091;0.091;0.029;0.067	T	0.72465	-0.4285	10	0.51188	T	0.08	-7.8095	15.7404	0.77891	0.0:0.0:0.0:1.0	.	252;254;299;359;307;347;350	B4DGK5;F5H099;B4DHB4;B4DFW5;E7EP61;Q9BQ16-1;Q9BQ16	.;.;.;.;.;.;TICN3_HUMAN	S	350;347;347;350;350;350;307;230;252;347;218;299;252;254	ENSP00000349677:T350S;ENSP00000350153:T347S;ENSP00000425570:T347S;ENSP00000420920:T350S;ENSP00000423421:T350S;ENSP00000423606:T350S;ENSP00000426716:T307S;ENSP00000444789:T230S;ENSP00000426318:T252S;ENSP00000425502:T347S;ENSP00000441396:T218S;ENSP00000411344:T299S;ENSP00000445430:T252S;ENSP00000438142:T254S	ENSP00000349677:T350S	T	-	1	0	SPOCK3	167895286	1.000000	0.71417	0.967000	0.41034	0.045000	0.14185	4.674000	0.61612	2.178000	0.69098	0.523000	0.50628	ACA		0.423	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1			32	109	0	0	0	0	32	109				
GPM6A	2823	broad.mit.edu	37	4	176573064	176573064	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:176573064C>G	ENST00000280187.7	-	5	507	c.462G>C	c.(460-462)atG>atC	p.M154I	GPM6A_ENST00000515090.1_Missense_Mutation_p.M147I|GPM6A_ENST00000506894.1_Missense_Mutation_p.M143I|GPM6A_ENST00000393658.2_Missense_Mutation_p.M154I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	154					neural retina development (GO:0003407)|neuron migration (GO:0001764)|neuron projection morphogenesis (GO:0048812)|positive regulation of filopodium assembly (GO:0051491)|stem cell differentiation (GO:0048863)|synapse assembly (GO:0007416)	axonal growth cone (GO:0044295)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium channel activity (GO:0005262)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GATTGAAGTACATGTAAACTG	0.458																																						uc003iuf.2		NA																	0					0						c.(460-462)ATG>ATC		glycoprotein M6A isoform 2							123.0	109.0	114.0					4																	176573064		2203	4300	6503	SO:0001583	missense	2823					cell surface|integral to membrane		g.chr4:176573064C>G		CCDS3824.1, CCDS54822.1, CCDS58936.1	4q34	2008-08-29				ENSG00000150625			4460	protein-coding gene	gene with protein product		601275		GPM6		8661015, 18574501	Standard	NM_005277		Approved		uc003iug.4	P51674		ENST00000280187.7:c.462G>C	4.37:g.176573064C>G	ENSP00000280187:p.Met154Ile					GPM6A_uc011ckj.1_Missense_Mutation_p.M147I|GPM6A_uc003iug.2_Missense_Mutation_p.M154I|GPM6A_uc003iuh.2_Missense_Mutation_p.M143I	p.M154I	NM_201591	NP_963885	P51674	GPM6A_HUMAN		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)	4	1266	-		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	154			Extracellular (Potential).		B7Z642|E9PHI5|Q92602	Missense_Mutation	SNP	ENST00000280187.7	37	c.462G>C	CCDS3824.1	.	.	.	.	.	.	.	.	.	.	C	6.991	0.552931	0.13374	.	.	ENSG00000150625	ENST00000280187;ENST00000393658;ENST00000506894;ENST00000515090;ENST00000503397;ENST00000512610;ENST00000502754;ENST00000507520;ENST00000513667;ENST00000512509	D;D;D;D;D;D;D;D;D;D	0.98901	-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22;-5.22	5.63	5.63	0.86233	.	0.070847	0.85682	D	0.000000	D	0.94417	0.8204	N	0.04746	-0.17	0.49915	D	0.999834	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12156	0.007;0.007;0.007	D	0.90794	0.4689	10	0.02654	T	1	-11.656	20.0572	0.97657	0.0:1.0:0.0:0.0	.	147;143;154	B7Z642;E9PHI5;P51674	.;.;GPM6A_HUMAN	I	154;154;143;147;146;91;91;91;91;87	ENSP00000280187:M154I;ENSP00000377268:M154I;ENSP00000421578:M143I;ENSP00000423984:M147I;ENSP00000422959:M146I;ENSP00000426984:M91I;ENSP00000426821:M91I;ENSP00000424075:M91I;ENSP00000421373:M91I;ENSP00000424443:M87I	ENSP00000280187:M154I	M	-	3	0	GPM6A	176810058	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.756000	0.47549	2.826000	0.97356	0.655000	0.94253	ATG		0.458	GPM6A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362163.1			3	49	0	0	0	0	3	49				
ASB5	140458	broad.mit.edu	37	4	177190237	177190237	+	Missense_Mutation	SNP	C	C	T	rs371622915		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr4:177190237C>T	ENST00000296525.3	-	1	136	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	8					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCAAACGGCCGATTTTCTTC	0.448																																						uc003iuq.1		NA																	0				skin(2)	2						c.(22-24)CGG>CAG		ankyrin repeat and SOCS box-containing protein		C	GLN/ARG	0,4406		0,0,2203	84.0	80.0	81.0		23	5.6	0.6	4		81	1,8599	1.2+/-3.3	0,1,4299	no	missense	ASB5	NM_080874.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	8/330	177190237	1,13005	2203	4300	6503	SO:0001583	missense	140458				intracellular signal transduction			g.chr4:177190237C>T	AY057053	CCDS3827.1	4q34.1	2013-01-10	2011-01-25		ENSG00000164122	ENSG00000164122		"""Ankyrin repeat domain containing"""	17180	protein-coding gene	gene with protein product		615050	"""ankyrin repeat and SOCS box-containing 5"""				Standard	NM_080874		Approved		uc003iuq.2	Q8WWX0	OTTHUMG00000160793	ENST00000296525.3:c.23G>A	4.37:g.177190237C>T	ENSP00000296525:p.Arg8Gln						p.R8Q	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)	1	39	-		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	8					Q8N7B5	Missense_Mutation	SNP	ENST00000296525.3	37	c.23G>A	CCDS3827.1	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799979	0.50208	0.0	1.16E-4	ENSG00000164122	ENST00000296525;ENST00000505299	T	0.41400	1.0	5.57	5.57	0.84162	.	0.252420	0.37809	N	0.001921	T	0.31827	0.0809	L	0.36672	1.1	0.80722	D	1	P	0.49358	0.923	B	0.33392	0.163	T	0.22208	-1.0223	10	0.49607	T	0.09	-26.3287	17.7463	0.88422	0.0:1.0:0.0:0.0	.	8	Q8WWX0	ASB5_HUMAN	Q	8	ENSP00000296525:R8Q	ENSP00000296525:R8Q	R	-	2	0	ASB5	177427231	1.000000	0.71417	0.645000	0.29479	0.317000	0.28152	4.385000	0.59613	2.630000	0.89119	0.591000	0.81541	CGG		0.448	ASB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362344.1			8	53	0	0	0	0	8	53				
SLC12A7	10723	broad.mit.edu	37	5	1057669	1057669	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:1057669C>A	ENST00000264930.5	-	22	2986	c.2943G>T	c.(2941-2943)tgG>tgT	p.W981C		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	981					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCCTGGTCCAGGTCATCT	0.617																																						uc003jbu.2		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(2941-2943)TGG>TGT		solute carrier family 12 (potassium/chloride	Potassium Chloride(DB00761)						174.0	152.0	159.0					5																	1057669		2203	4300	6503	SO:0001583	missense	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1057669C>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.2943G>T	5.37:g.1057669C>A	ENSP00000264930:p.Trp981Cys						p.W981C	NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		22	3009	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		981			Cytoplasmic (Potential).		A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	ENST00000264930.5	37	c.2943G>T	CCDS34129.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.19|16.19	3.051954|3.051954	0.55218|0.55218	.|.	.|.	ENSG00000113504|ENSG00000113504	ENST00000513223|ENST00000264930	.|D	.|0.87029	.|-2.2	3.39|3.39	3.39|3.39	0.38822|0.38822	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.90356|0.90356	0.6982|0.6982	M|M	0.79343|0.79343	2.45|2.45	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|P	.|0.54759	.|0.76	D|D	0.90002|0.90002	0.4115|0.4115	5|10	.|0.37606	.|T	.|0.19	.|.	13.6976|13.6976	0.62589|0.62589	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|981	.|Q9Y666	.|S12A7_HUMAN	Y|C	339|981	.|ENSP00000264930:W981C	.|ENSP00000264930:W981C	D|W	-|-	1|3	0|0	SLC12A7|SLC12A7	1110669|1110669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	4.956000|4.956000	0.63645|0.63645	1.622000|1.622000	0.50330|0.50330	0.491000|0.491000	0.48974|0.48974	GAC|TGG		0.617	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		11	204	1	0	1.59e-06	1.79e-06	11	204				
DNAH5	1767	broad.mit.edu	37	5	13891111	13891111	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:13891111A>T	ENST00000265104.4	-	17	2655	c.2551T>A	c.(2551-2553)Tgt>Agt	p.C851S	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	851	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AACTCTTCACAGGTTAGTGGC	0.393									Kartagener syndrome																													uc003jfd.2		NA																	0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(2551-2553)TGT>AGT		dynein, axonemal, heavy chain 5							100.0	108.0	106.0					5																	13891111		2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13891111A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.2551T>A	5.37:g.13891111A>T	ENSP00000265104:p.Cys851Ser						p.C851S	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			17	2593	-	Lung NSC(4;0.00476)		851			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.2551T>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.508887	0.44660	.	.	ENSG00000039139	ENST00000265104	T	0.22134	1.97	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.19967	0.0480	L	0.45137	1.4	0.80722	D	1	B	0.10296	0.003	B	0.09377	0.004	T	0.04090	-1.0978	10	0.20519	T	0.43	.	15.8756	0.79159	1.0:0.0:0.0:0.0	.	851	Q8TE73	DYH5_HUMAN	S	851	ENSP00000265104:C851S	ENSP00000265104:C851S	C	-	1	0	DNAH5	13944111	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	8.855000	0.92236	2.208000	0.71279	0.528000	0.53228	TGT		0.393	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	152	0	0	0	0	10	152				
CDH10	1008	broad.mit.edu	37	5	24492957	24492957	+	Silent	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:24492957G>C	ENST00000264463.4	-	10	2100	c.1593C>G	c.(1591-1593)gtC>gtG	p.V531V	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGTTTGGATTGACAGCAGCTA	0.333										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(1591-1593)GTC>GTG		cadherin 10, type 2 preproprotein							167.0	180.0	175.0					5																	24492957		2203	4297	6500	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24492957G>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1593C>G	5.37:g.24492957G>C		HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.V531V	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	10	1925	-			531			Cadherin 5.|Extracellular (Potential).		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.1593C>G	CCDS3892.1																																																																																				0.333	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		7	197	0	0	0	0	7	197				
NUP155	9631	broad.mit.edu	37	5	37331895	37331895	+	Silent	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:37331895C>G	ENST00000231498.3	-	14	1724	c.1521G>C	c.(1519-1521)ggG>ggC	p.G507G	NUP155_ENST00000381843.2_Silent_p.G448G|NUP155_ENST00000513532.1_Silent_p.G507G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	507					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACATAAGGCTCCCCTAAGAAA	0.343																																						uc003jku.1		NA																	0				ovary(1)	1						c.(1519-1521)GGG>GGC		nucleoporin 155kDa isoform 1							63.0	65.0	64.0					5																	37331895		2202	4300	6502	SO:0001819	synonymous_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37331895C>G	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1521G>C	5.37:g.37331895C>G						NUP155_uc003jkt.1_Silent_p.G448G|NUP155_uc010iuz.1_Silent_p.G507G	p.G507G	NM_153485	NP_705618	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		14	1639	-	all_lung(31;0.000137)		507					Q9UBE9|Q9UFL5	Silent	SNP	ENST00000231498.3	37	c.1521G>C	CCDS3921.1																																																																																				0.343	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	NM_153485, NM_004298		6	65	0	0	0	0	6	65				
ACOT12	134526	broad.mit.edu	37	5	80667569	80667569	+	Splice_Site	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:80667569C>A	ENST00000307624.3	-	3	286	c.258G>T	c.(256-258)gaG>gaT	p.E86D	ACOT12_ENST00000513751.1_Splice_Site_p.E86D	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	86	Acyl coenzyme A hydrolase 1.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TGCCTCTTACCTCCATGCTTG	0.398																																						uc003khl.3		NA																	0				ovary(1)|kidney(1)	2						c.(256-258)GAG>GAT		acyl-CoA thioesterase 12							218.0	177.0	191.0					5																	80667569		2203	4300	6503	SO:0001630	splice_region_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80667569C>A	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.258+1G>T	5.37:g.80667569C>A						RNU5E_uc011cto.1_Intron|ACOT12_uc003khm.2_Missense_Mutation_p.E86D	p.E86D	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	3	313	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	86			Acyl coenzyme A hydrolase 1.		B3KVK9|Q5FWE9	Missense_Mutation	SNP	ENST00000307624.3	37	c.258G>T	CCDS4055.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604303	0.87157	.	.	ENSG00000172497	ENST00000307624;ENST00000513751	T;T	0.23552	1.9;1.9	5.69	5.69	0.88448	Thioesterase superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56673	0.2001	M	0.85373	2.75	0.58432	D	0.999993	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.59894	-0.7368	9	.	.	.	-9.1087	16.7276	0.85427	0.0:1.0:0.0:0.0	.	86;86	Q5FWE9;Q8WYK0	.;ACO12_HUMAN	D	86	ENSP00000303246:E86D;ENSP00000421628:E86D	.	E	-	3	2	ACOT12	80703325	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	3.289000	0.51747	2.698000	0.92095	0.563000	0.77884	GAG		0.398	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	NM_130767	Missense_Mutation	19	52	1	0	1.98e-07	2.25e-07	19	52				
APC	324	broad.mit.edu	37	5	112174376	112174376	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:112174376C>A	ENST00000457016.1	+	16	3465	c.3085C>A	c.(3085-3087)Ctt>Att	p.L1029I	APC_ENST00000257430.4_Missense_Mutation_p.L1029I|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.L1029I			P25054	APC_HUMAN	adenomatous polyposis coli	1029	Responsible for down-regulation through a process mediated by direct ubiquitination.|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)		AAATTATAGTCTTAAATATTC	0.363		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.(3085-3087)CTT>ATT		adenomatous polyposis coli							68.0	72.0	71.0					5																	112174376		2202	4299	6501	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.chr5:112174376C>A	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.3085C>A	5.37:g.112174376C>A	ENSP00000413133:p.Leu1029Ile	TSP Lung(16;0.13)				APC_uc011cvt.1_Missense_Mutation_p.L1011I|APC_uc003kpz.3_Missense_Mutation_p.L1029I|APC_uc003kpy.3_Missense_Mutation_p.L1029I|APC_uc010jbz.2_Missense_Mutation_p.L746I|APC_uc010jca.2_Missense_Mutation_p.L329I	p.L1029I	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	3465	+		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)	1029			Ser-rich.|Responsible for down-regulation through a process mediated by direct ubiquitination.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.3085C>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210730	0.58343	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.88962	0.6580	N	0.08118	0	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.90021	0.4128	10	0.41790	T	0.15	-13.383	19.57	0.95407	0.0:1.0:0.0:0.0	.	1031;1029	Q4LE70;P25054	.;APC_HUMAN	I	1029;1011;1029;1029;1029	ENSP00000413133:L1029I;ENSP00000423224:L1011I;ENSP00000257430:L1029I;ENSP00000427089:L1029I;ENSP00000423828:L1029I	ENSP00000257430:L1029I	L	+	1	0	APC	112202275	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.329000	0.65892	2.726000	0.93360	0.655000	0.94253	CTT		0.363	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		5	65	1	0	0.00116845	0.00122806	5	65				
IL13	3596	broad.mit.edu	37	5	131993989	131993989	+	Silent	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:131993989G>T	ENST00000304506.3	+	1	125	c.111G>T	c.(109-111)gtG>gtT	p.V37V	IL13_ENST00000468334.1_Intron|AC004041.2_ENST00000458509.1_RNA|AC004041.2_ENST00000417516.1_RNA|AC004041.2_ENST00000435042.1_RNA	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	37					cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|cellular response to cytokine stimulus (GO:0071345)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of lung ciliated cell differentiation (GO:1901247)|negative regulation of transforming growth factor beta production (GO:0071635)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of connective tissue growth factor production (GO:0032723)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of lung goblet cell differentiation (GO:1901251)|positive regulation of macrophage activation (GO:0043032)|positive regulation of pancreatic stellate cell proliferation (GO:2000231)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat6 protein (GO:0042526)|regulation of proton transport (GO:0010155)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGCCCTGTGCCTCCCTCTA	0.592																																						uc003kxj.1		NA																	0				ovary(1)|skin(1)	2						c.(109-111)GTG>GTT		interleukin 13 precursor							79.0	64.0	69.0					5																	131993989		2203	4300	6503	SO:0001819	synonymous_variant	3596				cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity	g.chr5:131993989G>T	U31120	CCDS4157.1	5q31	2011-07-14			ENSG00000169194	ENSG00000169194		"""Interleukins and interleukin receptors"""	5973	protein-coding gene	gene with protein product	"""allergic rhinitis"", ""Bronchial hyperresponsiveness-1 (bronchial asthma)"""	147683					Standard	NM_002188		Approved	P600, IL-13, ALRH, BHR1, MGC116786, MGC116788, MGC116789	uc003kxj.1	P35225	OTTHUMG00000059723	ENST00000304506.3:c.111G>T	5.37:g.131993989G>T							p.V37V	NM_002188	NP_002179	P35225	IL13_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		1	125	+		all_cancers(142;0.0751)|Breast(839;0.198)	37					O43644|Q4VB52|Q9UDC7	Silent	SNP	ENST00000304506.3	37	c.111G>T	CCDS4157.1																																																																																				0.592	IL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132782.1	NM_002188		10	28	1	0	0.000442599	0.000471191	10	28				
PCDHA6	56142	broad.mit.edu	37	5	140207691	140207691	+	Silent	SNP	G	G	A	rs17844300		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:140207691G>A	ENST00000529310.1	+	1	129	c.15G>A	c.(13-15)ccG>ccA	p.P5P	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Silent_p.P5P|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1	Q9UN73	PCDA6_HUMAN	protocadherin alpha 6	5					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACCCCGGAGGATAGAT	0.478																																						uc003lho.2		NA																	0				haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						c.(13-15)CCG>CCA		protocadherin alpha 6 isoform 1 precursor							120.0	137.0	131.0					5																	140207691		2203	4300	6503	SO:0001819	synonymous_variant	56142				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140207691G>A	AF152484	CCDS47281.1, CCDS47282.1	5q31	2010-11-26			ENSG00000081842	ENSG00000081842		"""Cadherins / Protocadherins : Clustered"""	8672	other	complex locus constituent	"""KIAA0345-like 8"""	606312		CNRS2		10380929, 10662547	Standard	NM_018909		Approved	CNR2, CRNR2, PCDH-ALPHA6		Q9UN73	OTTHUMG00000163353	ENST00000529310.1:c.15G>A	5.37:g.140207691G>A						PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Silent_p.P5P|PCDHA6_uc011dab.1_Silent_p.P5P	p.P5P	NM_018909	NP_061732	Q9UN73	PCDA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	42	+			5					O75283|Q9NRT8	Silent	SNP	ENST00000529310.1	37	c.15G>A	CCDS47281.1																																																																																				0.478	PCDHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372829.3	NM_018909		20	121	0	0	0	0	20	121				
LARP1	23367	broad.mit.edu	37	5	154179273	154179273	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr5:154179273C>T	ENST00000336314.4	+	9	1293	c.1269C>T	c.(1267-1269)ctC>ctT	p.L423L		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	500	HTH La-type RNA-binding. {ECO:0000255|PROSITE-ProRule:PRU00332}.				cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGCTTCTCAACTGCCCTG	0.502																																						uc003lvp.2		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1498-1500)CTC>CTT		la related protein isoform 2							160.0	157.0	158.0					5																	154179273		2203	4300	6503	SO:0001819	synonymous_variant	23367						protein binding|RNA binding	g.chr5:154179273C>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1269C>T	5.37:g.154179273C>T						LARP1_uc003lvo.2_Silent_p.L423L|LARP1_uc010jie.1_Silent_p.L295L	p.L500L	NM_033551	NP_291029	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1929	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	500					O94836|Q8N4M2|Q8NB73|Q9UFD7	Silent	SNP	ENST00000336314.4	37	c.1500C>T	CCDS4328.1																																																																																				0.502	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		9	88	0	0	0	0	9	88				
PRPH2	5961	broad.mit.edu	37	6	42689520	42689520	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:42689520G>A	ENST00000230381.5	-	1	792	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	185			L -> P (in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1). {ECO:0000269|PubMed:1684223}.		cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GAAAAGTCCAGGTAGCGATTG	0.502																																						uc003osk.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(553-555)CTG>TTG		peripherin 2							149.0	144.0	145.0					6																	42689520		2203	4300	6503	SO:0001819	synonymous_variant	5961				cell adhesion|visual perception	integral to membrane		g.chr6:42689520G>A		CCDS4871.1	6p21.1	2013-09-20	2006-11-23	2006-11-23	ENSG00000112619	ENSG00000112619		"""Tetraspanins"""	9942	protein-coding gene	gene with protein product	retinal peripherin	179605	"""retinal degeneration, slow (retinitis pigmentosa 7)"", ""retinal degeneration, slow"""	RP7, RDS		1749427	Standard	NM_000322		Approved	TSPAN22, rd2, CACD2	uc003osk.3	P23942	OTTHUMG00000014701	ENST00000230381.5:c.553C>T	6.37:g.42689520G>A							p.L185L	NM_000322	NP_000313	P23942	PRPH2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)		1	839	-	Colorectal(47;0.196)		185		L -> P (in RP7; in combination with a null mutation of ROM1).	Lumenal (Potential).		Q5TFH5|Q6DK65	Silent	SNP	ENST00000230381.5	37	c.553C>T	CCDS4871.1																																																																																				0.502	PRPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040556.1	NM_000322		24	141	0	0	0	0	24	141				
AARS2	57505	broad.mit.edu	37	6	44279951	44279951	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:44279951C>T	ENST00000244571.4	-	2	295	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RP11-444E17.6_ENST00000505802.1_Intron	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACGTCGGAAGCCTGCCATCTC	0.527																																						uc010jza.1		NA																	0				ovary(1)	1						c.(292-294)GGC>GAC		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)						119.0	88.0	99.0					6																	44279951		2203	4300	6503	SO:0001583	missense	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44279951C>T	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.293G>A	6.37:g.44279951C>T	ENSP00000244571:p.Gly98Asp					SPATS1_uc003oxg.2_Intron	p.G98D	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	296	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		98						Missense_Mutation	SNP	ENST00000244571.4	37	c.293G>A	CCDS34464.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641435	0.67244	.	.	ENSG00000124608	ENST00000244571	T	0.71222	-0.55	4.9	4.9	0.64082	Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.441828	0.25347	N	0.031321	T	0.46852	0.1414	L	0.31752	0.955	0.30825	N	0.737328	P	0.38677	0.642	B	0.43225	0.412	T	0.47195	-0.9136	10	0.38643	T	0.18	-22.8933	8.6331	0.33930	0.0:0.8272:0.0:0.1728	.	98	Q5JTZ9	SYAM_HUMAN	D	98	ENSP00000244571:G98D	ENSP00000244571:G98D	G	-	2	0	AARS2	44387929	0.248000	0.23930	1.000000	0.80357	0.989000	0.77384	0.861000	0.27885	2.540000	0.85666	0.436000	0.28706	GGC		0.527	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		13	56	0	0	0	0	13	56				
DDX43	55510	broad.mit.edu	37	6	74104706	74104707	+	Missense_Mutation	DNP	GC	GC	TA			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:74104706_74104707GC>TA	ENST00000370336.4	+	1	236_237	c.78_79GC>TA	c.(76-81)gcGCca>gcTAca	p.P27T	DDX43_ENST00000539829.1_Missense_Mutation_p.P27T|OOEP_ENST00000370363.1_5'UTR|snoU13_ENST00000459178.1_RNA	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	27					ATP catabolic process (GO:0006200)	intracellular (GO:0005622)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TGTCCCGAGCGCCAGAGAGGAG	0.644																																						uc003pgw.2		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(76-81)GCGCCA>GCTACA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 43																																				SO:0001583	missense	55510					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr6:74104706_74104707GC>TA		CCDS4977.1	6q13	2014-01-21			ENSG00000080007	ENSG00000080007		"""DEAD-boxes"""	18677	protein-coding gene	gene with protein product	"""cancer/testis antigen 13"""	606286				10919659	Standard	NM_018665		Approved	HAGE, DKFZp434H2114, CT13	uc003pgw.3	Q9NXZ2	OTTHUMG00000015033	Exception_encountered	6.37:g.74104706_74104707delinsTA	ENSP00000359361:p.Pro27Thr					OOEP_uc003pgv.3_5'UTR|DDX43_uc011dyn.1_RNA	p.P27T	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN			1	422_423	+			27					B4E0C8|Q6NXR1	Missense_Mutation	DNP	ENST00000370336.4	37	c.78_79GC>TA	CCDS4977.1																																																																																				0.644	DDX43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041219.3	NM_018665		13	73	0	0	0	0	13	73				
GOPC	57120	broad.mit.edu	37	6	117896462	117896462	+	Silent	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:117896462T>C	ENST00000368498.2	-	4	603	c.528A>G	c.(526-528)gaA>gaG	p.E176E	GOPC_ENST00000535237.1_Silent_p.E176E|GOPC_ENST00000467125.1_5'Flank|GOPC_ENST00000052569.6_Silent_p.E168E	NM_020399.3	NP_065132.1	Q9HD26	GOPC_HUMAN	golgi-associated PDZ and coiled-coil motif containing	176					apical protein localization (GO:0045176)|cytoplasmic sequestering of CFTR protein (GO:0043004)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi to plasma membrane transport (GO:0006893)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|spermatid nucleus differentiation (GO:0007289)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|trans-Golgi network transport vesicle (GO:0030140)	ion channel binding (GO:0044325)|small GTPase regulator activity (GO:0005083)		GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TCACTTCAGCTTCAAGTTGTG	0.348			O	ROS1	glioblastoma																																	uc003pxu.2		NA		Dom	yes		6	6q21	57120	O	golgi associated PDZ and coiled-coil motif containing			O	ROS1		glioblastoma		0				ovary(1)	1						c.(526-528)GAA>GAG		golgi associated PDZ and coiled-coil motif							130.0	114.0	119.0					6																	117896462		2203	4300	6503	SO:0001819	synonymous_variant	57120				apical protein localization|cytoplasmic sequestering of CFTR protein|ER to Golgi vesicle-mediated transport|Golgi to plasma membrane transport|protein homooligomerization|protein transport	cell junction|dendrite|Golgi membrane|postsynaptic density|postsynaptic membrane|trans-Golgi network transport vesicle	cystic fibrosis transmembrane conductance regulator binding	g.chr6:117896462T>C	AF287894	CCDS5117.1, CCDS34523.1	6q21	2010-02-12	2010-02-12		ENSG00000047932	ENSG00000047932			17643	protein-coding gene	gene with protein product		606845				11162552, 11520064	Standard	NM_020399		Approved	dJ94G16.2, PIST, FIG, GOPC1, CAL		Q9HD26	OTTHUMG00000015457	ENST00000368498.2:c.528A>G	6.37:g.117896462T>C						GOPC_uc003pxq.1_5'Flank|GOPC_uc003pxv.2_Silent_p.E168E	p.E176E	NM_020399	NP_065132	Q9HD26	GOPC_HUMAN		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)	4	758	-		all_cancers(87;0.00844)|all_epithelial(87;0.0242)	176			Potential.		A6NM30|Q59FS4|Q969U8	Silent	SNP	ENST00000368498.2	37	c.528A>G	CCDS5117.1																																																																																				0.348	GOPC-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041988.1	NM_020399		6	34	0	0	0	0	6	34				
SMPDL3A	10924	broad.mit.edu	37	6	123124975	123124975	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr6:123124975G>C	ENST00000368440.4	+	5	912	c.735G>C	c.(733-735)gaG>gaC	p.E245D	SMPDL3A_ENST00000539041.1_Missense_Mutation_p.E114D	NM_006714.3	NP_006705.1	Q92484	ASM3A_HUMAN	sphingomyelin phosphodiesterase, acid-like 3A	245					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			breast(1)|cervix(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(226;0.236)		AGAATAAGGAGAAGGTAGATC	0.393																																						uc003pzg.2		NA																	0					0						c.(733-735)GAG>GAC		acid sphingomyelinase-like phosphodiesterase 3A							107.0	109.0	108.0					6																	123124975		2203	4300	6503	SO:0001583	missense	10924				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|protein binding|sphingomyelin phosphodiesterase activity	g.chr6:123124975G>C	AK000184	CCDS5128.1, CCDS69190.1	6q22.32	2006-04-12			ENSG00000172594	ENSG00000172594			17389	protein-coding gene	gene with protein product	"""acid sphingomyelinase-like phosphodiesterase 3a"""	610728				12442002	Standard	XM_005266798		Approved	FLJ20177, ASM3A, ASML3a, yR36GH4.1	uc003pzg.3	Q92484	OTTHUMG00000015490	ENST00000368440.4:c.735G>C	6.37:g.123124975G>C	ENSP00000357425:p.Glu245Asp					SMPDL3A_uc003pzh.2_Missense_Mutation_p.E114D	p.E245D	NM_006714	NP_006705	Q92484	ASM3A_HUMAN		GBM - Glioblastoma multiforme(226;0.236)	5	1256	+			245					B7Z729|Q8WV13	Missense_Mutation	SNP	ENST00000368440.4	37	c.735G>C	CCDS5128.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009168	0.35415	.	.	ENSG00000172594	ENST00000368440;ENST00000539041	D;D	0.86432	-2.12;-2.12	5.31	2.06	0.26882	Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.87398	0.6167	M	0.70903	2.155	0.52099	D	0.999948	D	0.89917	1.0	D	0.87578	0.998	D	0.85017	0.0909	10	0.41790	T	0.15	-22.1376	5.4604	0.16614	0.54:0.0:0.46:0.0	.	245	Q92484	ASM3A_HUMAN	D	245;114	ENSP00000357425:E245D;ENSP00000442152:E114D	ENSP00000357425:E245D	E	+	3	2	SMPDL3A	123166674	1.000000	0.71417	0.998000	0.56505	0.018000	0.09664	0.877000	0.28106	0.737000	0.32582	-0.157000	0.13467	GAG		0.393	SMPDL3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042039.1	NM_006714		15	74	0	0	0	0	15	74				
AMZ1	155185	broad.mit.edu	37	7	2740214	2740214	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:2740214C>A	ENST00000312371.4	+	2	497	c.129C>A	c.(127-129)ttC>ttA	p.F43L	AMZ1_ENST00000407112.1_Missense_Mutation_p.F43L	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	43							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCGGCTCTTCCTGGCCGAGG	0.672																																						uc003smr.1		NA																	0					0						c.(127-129)TTC>TTA		archaelysin family metallopeptidase 1							112.0	121.0	118.0					7																	2740214		2203	4300	6503	SO:0001583	missense	155185						metallopeptidase activity|zinc ion binding	g.chr7:2740214C>A	AB075830	CCDS34589.1, CCDS64582.1	7p22.3	2008-01-17			ENSG00000174945	ENSG00000174945			22231	protein-coding gene	gene with protein product	"""archaemetzincin-1"""	615168				15972818	Standard	NM_133463		Approved	KIAA1950	uc003smr.1	Q400G9	OTTHUMG00000152111	ENST00000312371.4:c.129C>A	7.37:g.2740214C>A	ENSP00000308149:p.Phe43Leu					AMZ1_uc003sms.1_Missense_Mutation_p.F43L|AMZ1_uc011jwa.1_5'Flank	p.F43L	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)	2	490	+		Ovarian(82;0.0779)	43					B3KRS0|Q8TF51	Missense_Mutation	SNP	ENST00000312371.4	37	c.129C>A	CCDS34589.1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.089038	0.55968	.	.	ENSG00000174945	ENST00000312371;ENST00000407112	T;T	0.30182	1.89;1.54	4.34	3.45	0.39498	.	0.083516	0.49305	D	0.000150	T	0.37183	0.0994	L	0.34521	1.04	0.40941	D	0.984466	D;D	0.63880	0.974;0.993	D;D	0.70487	0.969;0.956	T	0.07028	-1.0794	10	0.15499	T	0.54	-34.6431	10.7412	0.46154	0.0:0.9083:0.0:0.0917	.	43;43	B3KRS0;Q400G9	.;AMZ1_HUMAN	L	43	ENSP00000308149:F43L;ENSP00000386020:F43L	ENSP00000308149:F43L	F	+	3	2	AMZ1	2706740	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	2.627000	0.46469	1.969000	0.57287	0.561000	0.74099	TTC		0.672	AMZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325244.1	NM_133463		16	182	1	0	1.03e-11	1.2e-11	16	182				
DGKB	1607	broad.mit.edu	37	7	14378214	14378214	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:14378214C>T	ENST00000403951.2	-	23	2470	c.2051G>A	c.(2050-2052)cGa>cAa	p.R684Q	DGKB_ENST00000258767.5_Missense_Mutation_p.R684Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R684Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R683Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Missense_Mutation_p.R684Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R676Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R665Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	684					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						CTCTATTCGTCGATGGCTTCG	0.393																																						uc003ssz.2		NA																	0				lung(5)|ovary(4)|breast(2)|skin(1)	12						c.(2050-2052)CGA>CAA		diacylglycerol kinase, beta isoform 1	Phosphatidylserine(DB00144)						183.0	167.0	172.0					7																	14378214		1855	4094	5949	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14378214C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.2051G>A	7.37:g.14378214C>T	ENSP00000385780:p.Arg684Gln					DGKB_uc011jxt.1_Missense_Mutation_p.R665Q|DGKB_uc003sta.2_Missense_Mutation_p.R684Q|DGKB_uc011jxu.1_Missense_Mutation_p.R683Q	p.R684Q	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN			22	2238	-			684					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.2051G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.873666	0.51695	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	T;T;T;T;T;T;T	0.79554	-1.18;-1.18;-1.18;-1.18;-1.18;-1.18;-1.28	5.5	5.5	0.81552	Diacylglycerol kinase, accessory domain (2);	0.075293	0.52532	N	0.000080	T	0.72748	0.3499	N	0.14661	0.345	0.38002	D	0.934247	D;B;P;P	0.55172	0.97;0.411;0.883;0.953	P;B;B;P	0.46275	0.464;0.248;0.269;0.51	T	0.74740	-0.3563	10	0.28530	T	0.3	.	19.3986	0.94619	0.0:1.0:0.0:0.0	.	683;665;684;684	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Q	684;684;684;683;676;665;684	ENSP00000385780:R684Q;ENSP00000382260:R684Q;ENSP00000258767:R684Q;ENSP00000384909:R683Q;ENSP00000385031:R676Q;ENSP00000388451:R665Q;ENSP00000386066:R684Q	ENSP00000258767:R684Q	R	-	2	0	DGKB	14344739	1.000000	0.71417	0.924000	0.36721	0.835000	0.47333	4.733000	0.62036	2.570000	0.86706	0.650000	0.86243	CGA		0.393	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		4	89	0	0	0	0	4	89				
RAPGEF5	9771	broad.mit.edu	37	7	22202079	22202079	+	Missense_Mutation	SNP	G	G	T	rs267601458		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:22202079G>T	ENST00000401957.2	-	3	702	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	RAPGEF5_ENST00000344041.6_Missense_Mutation_p.S302Y			Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	152	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				nervous system development (GO:0007399)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)	GTP-dependent protein binding (GO:0030742)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						AATCCACTGGGAAACAAGATG	0.368																																						uc003svg.2		NA																	0				ovary(1)	1						c.(904-906)TCC>TAC		Rap guanine nucleotide exchange factor (GEF) 5							95.0	92.0	93.0					7																	22202079		1841	4090	5931	SO:0001583	missense	9771				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	g.chr7:22202079G>T	D87467	CCDS55093.1	7p15.3	2004-03-01			ENSG00000136237	ENSG00000136237			16862	protein-coding gene	gene with protein product	"""M-Ras-regulated GEF"""	609527				9039502, 10486569	Standard	NM_012294		Approved	KIAA0277, GFR, MR-GEF	uc003svg.3	Q92565	OTTHUMG00000152525	ENST00000401957.2:c.455C>A	7.37:g.22202079G>T	ENSP00000384044:p.Ser152Tyr					RAPGEF5_uc011jyl.1_5'UTR	p.S302Y	NM_012294	NP_036426	Q92565	RPGF5_HUMAN			13	1218	-			152			N-terminal Ras-GEF.		A4D140|Q8IXU5	Missense_Mutation	SNP	ENST00000401957.2	37	c.905C>A		.	.	.	.	.	.	.	.	.	.	G	18.81	3.703945	0.68501	.	.	ENSG00000136237	ENST00000344041;ENST00000425852;ENST00000258735;ENST00000401957;ENST00000458533	T;T;T	0.51574	0.7;0.7;1.52	5.47	5.47	0.80525	.	0.116921	0.64402	D	0.000010	T	0.65637	0.2710	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.61173	-0.7116	10	0.34782	T	0.22	.	19.323	0.94250	0.0:0.0:1.0:0.0	.	302	A8MQ07	.	Y	302;152;152;152;40	ENSP00000343656:S302Y;ENSP00000384044:S152Y;ENSP00000415664:S40Y	ENSP00000258735:S152Y	S	-	2	0	RAPGEF5	22168604	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.568000	0.90741	2.547000	0.85894	0.643000	0.83706	TCC		0.368	RAPGEF5-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000326590.2	NM_012294		4	63	1	0	2.56e-06	2.85e-06	4	63				
TYW1B	441250	broad.mit.edu	37	7	72159743	72159743	+	RNA	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:72159743G>A	ENST00000435769.2	-	0	1563				TYW1B_ENST00000343721.5_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GTGGGCGGTCGATTTTCTTCA	0.388																																						uc011kej.1		NA																	0					0						c.(1438-1440)ATC>ATT		tRNA-yW synthesizing protein 1 homolog B isoform							71.0	69.0	70.0					7																	72159743		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72159743G>A	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72159743G>A						TYW1B_uc011keh.1_Silent_p.I318I|TYW1B_uc011kei.1_Silent_p.I106I	p.I480I	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN			14	1599	-			480					A6NG09|B4DFY2|Q3KQX2	Silent	SNP	ENST00000435769.2	37	c.1440C>T																																																																																					0.388	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		8	68	0	0	0	0	8	68				
PEX1	5189	broad.mit.edu	37	7	92138667	92138667	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:92138667G>A	ENST00000248633.4	-	9	1741	c.1646C>T	c.(1645-1647)cCt>cTt	p.P549L	PEX1_ENST00000428214.1_Missense_Mutation_p.P549L|PEX1_ENST00000541751.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.P227L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	549					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CTTTAAAAAAGGAAGAATAAA	0.333																																						uc003uly.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1645-1647)CCT>CTT		peroxin1							68.0	69.0	69.0					7																	92138667		2203	4298	6501	SO:0001583	missense	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92138667G>A	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1646C>T	7.37:g.92138667G>A	ENSP00000248633:p.Pro549Leu					PEX1_uc011khr.1_Missense_Mutation_p.P341L|PEX1_uc010ley.2_Missense_Mutation_p.P549L|PEX1_uc011khs.1_Missense_Mutation_p.P227L|PEX1_uc011kht.1_Intron	p.P549L	NM_000466	NP_000457	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		9	1742	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	549					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	ENST00000248633.4	37	c.1646C>T	CCDS5627.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230876	0.58777	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214;ENST00000545192	D;D;D	0.95171	-3.45;-3.52;-3.63	5.95	5.95	0.96441	.	0.207799	0.51477	D	0.000095	D	0.90954	0.7156	L	0.39633	1.23	0.80722	D	1	B;B;P	0.42409	0.019;0.451;0.779	B;B;B	0.35182	0.038;0.197;0.197	D	0.91010	0.4849	10	0.46703	T	0.11	-18.6936	17.2886	0.87149	0.0:0.0:1.0:0.0	.	227;341;549	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	L	227;549;549;549	ENSP00000410438:P227L;ENSP00000248633:P549L;ENSP00000394413:P549L	ENSP00000248633:P549L	P	-	2	0	PEX1	91976603	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.464000	0.53057	2.826000	0.97356	0.491000	0.48974	CCT		0.333	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		9	45	0	0	0	0	9	45				
MUC17	140453	broad.mit.edu	37	7	100684155	100684155	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:100684155G>A	ENST00000306151.4	+	3	9522	c.9458G>A	c.(9457-9459)aGc>aAc	p.S3153N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3153	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGGTACCAGCATGCCAACC	0.478																																						uc003uxp.1		NA																	0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9457-9459)AGC>AAC		mucin 17 precursor							296.0	302.0	300.0					7																	100684155		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684155G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9458G>A	7.37:g.100684155G>A	ENSP00000302716:p.Ser3153Asn					MUC17_uc010lho.1_RNA	p.S3153N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9511	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3153			Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|51.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9458G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	4.655	0.121851	0.08931	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	0.905	-0.109	0.13584	.	.	.	.	.	T	0.02494	0.0076	N	0.14661	0.345	0.09310	N	1	P	0.48350	0.909	P	0.57776	0.827	T	0.45011	-0.9290	9	0.16896	T	0.51	.	2.6441	0.04979	0.0:0.4592:0.314:0.2268	.	3153	Q685J3	MUC17_HUMAN	N	3153	ENSP00000302716:S3153N	ENSP00000302716:S3153N	S	+	2	0	MUC17	100470875	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.598000	0.05706	-0.033000	0.13736	-1.721000	0.00707	AGC		0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		108	208	0	0	0	0	108	208				
KCND2	3751	broad.mit.edu	37	7	120385968	120385968	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:120385968C>G	ENST00000331113.4	+	5	2567	c.1602C>G	c.(1600-1602)caC>caG	p.H534Q	RP4-797C5.2_ENST00000450480.1_RNA	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	534					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CACGACGACACAAAAAAACTT	0.448																																						uc003vjj.1		NA																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1600-1602)CAC>CAG		potassium voltage-gated channel, Shal-related							148.0	122.0	131.0					7																	120385968		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120385968C>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1602C>G	7.37:g.120385968C>G	ENSP00000333496:p.His534Gln						p.H534Q	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			5	2567	+	all_neural(327;0.117)		534			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1602C>G	CCDS5776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.17|10.17	1.276800|1.276800	0.23307|0.23307	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000331113|ENST00000425288	D|.	0.81908|.	-1.55|.	6.06|6.06	4.26|4.26	0.50523|0.50523	Potassium channel, voltage dependent, Kv4, C-terminal (1);|.	0.054061|.	0.64402|.	D|.	0.000001|.	T|T	0.46541|0.46541	0.1398|0.1398	L|L	0.36672|0.36672	1.1|1.1	0.33920|0.33920	D|D	0.640773|0.640773	B|.	0.23650|.	0.089|.	B|.	0.22753|.	0.041|.	T|T	0.56625|0.56625	-0.7948|-0.7948	9|5	.|.	.|.	.|.	.|.	8.1423|8.1423	0.31091|0.31091	0.0:0.681:0.0:0.319|0.0:0.681:0.0:0.319	.|.	534|.	Q9NZV8|.	KCND2_HUMAN|.	Q|R	534|120	ENSP00000333496:H534Q|.	.|.	H|T	+|+	3|2	2|0	KCND2|KCND2	120173204|120173204	0.981000|0.981000	0.34729|0.34729	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	0.201000|0.201000	0.17276|0.17276	1.582000|1.582000	0.49881|0.49881	0.655000|0.655000	0.94253|0.94253	CAC|ACA		0.448	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		7	55	0	0	0	0	7	55				
RP1L1	94137	broad.mit.edu	37	8	10469745	10469745	+	Silent	SNP	C	C	T	rs370097226		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:10469745C>T	ENST00000382483.3	-	4	2086	c.1863G>A	c.(1861-1863)tcG>tcA	p.S621S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	621					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGCTCCTTCCGAGTCCCAGG	0.647																																						uc003wtc.2		NA																	0				ovary(4)|breast(3)|central_nervous_system(1)	8						c.(1861-1863)TCG>TCA		retinitis pigmentosa 1-like 1		C		1,4059		0,1,2029	38.0	44.0	42.0		1863	-3.3	0.0	8		42	0,8376		0,0,4188	no	coding-synonymous	RP1L1	NM_178857.5		0,1,6217	TT,TC,CC		0.0,0.0246,0.0080		621/2401	10469745	1,12435	2030	4188	6218	SO:0001819	synonymous_variant	94137				intracellular signal transduction			g.chr8:10469745C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1863G>A	8.37:g.10469745C>T							p.S621S	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	2092	-			621					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	c.1863G>A	CCDS43708.1																																																																																				0.647	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			5	64	0	0	0	0	5	64				
ADAM7	8756	broad.mit.edu	37	8	24324479	24324479	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:24324479C>G	ENST00000175238.6	+	6	640	c.557C>G	c.(556-558)tCt>tGt	p.S186C	ADAM7_ENST00000380789.1_Missense_Mutation_p.S186C|ADAM7_ENST00000441335.2_Missense_Mutation_p.S186C|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATAATGAATCTGAAGAAGAC	0.348																																						uc003xeb.2		NA																	0				skin(3)|ovary(1)|kidney(1)	5						c.(556-558)TCT>TGT		a disintegrin and metalloproteinase domain 7							74.0	81.0	79.0					8																	24324479		2203	4300	6503	SO:0001583	missense	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324479C>G	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.557C>G	8.37:g.24324479C>G	ENSP00000175238:p.Ser186Cys					ADAM7_uc003xea.1_Missense_Mutation_p.S186C	p.S186C	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	670	+		Prostate(55;0.0181)	186			Extracellular (Potential).		A8K8X7|O75959|Q6PEJ6	Missense_Mutation	SNP	ENST00000175238.6	37	c.557C>G	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174993	0.38413	.	.	ENSG00000069206	ENST00000441335;ENST00000175238;ENST00000380789	T;T;T	0.32272	2.26;1.47;1.46	5.07	-0.463	0.12164	.	1.322810	0.05210	N	0.506507	T	0.26048	0.0635	N	0.19112	0.55	0.09310	N	1	D;D	0.63880	0.993;0.983	P;P	0.49999	0.628;0.533	T	0.17258	-1.0375	10	0.56958	D	0.05	.	4.7574	0.13092	0.517:0.3026:0.0:0.1804	.	186;186	Q9H2U9;Q6PEJ6	ADAM7_HUMAN;.	C	186	ENSP00000393073:S186C;ENSP00000175238:S186C;ENSP00000370166:S186C	ENSP00000175238:S186C	S	+	2	0	ADAM7	24380369	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.144000	0.16135	-0.193000	0.10415	-0.309000	0.09137	TCT		0.348	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		12	84	0	0	0	0	12	84				
STAR	6770	broad.mit.edu	37	8	38003513	38003513	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:38003513G>A	ENST00000276449.4	-	5	1064	c.618C>T	c.(616-618)ttC>ttT	p.F206F	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	206	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCATGTTCCCGAAGTCTGTGG	0.617																																						uc003xkv.1		NA																	0				ovary(1)	1						c.(562-564)TTC>TTT		steroidogenic acute regulatory protein isoform							62.0	63.0	63.0					8																	38003513		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38003513G>A	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.618C>T	8.37:g.38003513G>A						STAR_uc010lwc.1_Silent_p.F168F	p.F188F	NM_001007243	NP_001007244	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	6	828	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	206			START.		Q16396	Silent	SNP	ENST00000276449.4	37	c.564C>T	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	2.939	-0.219364	0.06061	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.99	-5.76	0.02376	.	.	.	.	.	T	0.44095	0.1277	.	.	.	0.25441	N	0.988091	.	.	.	.	.	.	T	0.43523	-0.9386	4	.	.	.	-20.4319	17.2792	0.87123	0.7568:0.0:0.2432:0.0	.	.	.	.	L	185	.	.	S	-	2	0	STAR	38122670	0.332000	0.24722	0.016000	0.15963	0.454000	0.32378	-0.146000	0.10250	-1.074000	0.03132	-0.140000	0.14226	TCG		0.617	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		6	128	0	0	0	0	6	128				
ADAM2	2515	broad.mit.edu	37	8	39626980	39626980	+	Missense_Mutation	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:39626980G>C	ENST00000265708.4	-	12	1246	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	ADAM2_ENST00000521880.1_Missense_Mutation_p.F381L|ADAM2_ENST00000347580.4_Missense_Mutation_p.F362L|ADAM2_ENST00000379853.2_Missense_Mutation_p.F255L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	381					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTTGCTGTTTGAAAAAAGGAT	0.443																																						uc003xnj.2		NA																	0				ovary(1)|lung(1)	2						c.(1141-1143)TTC>TTG		ADAM metallopeptidase domain 2 proprotein							157.0	141.0	146.0					8																	39626980		2203	4300	6503	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39626980G>C	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.1143C>G	8.37:g.39626980G>C	ENSP00000265708:p.Phe381Leu					ADAM2_uc003xnk.2_Missense_Mutation_p.F362L|ADAM2_uc011lck.1_Missense_Mutation_p.F381L|ADAM2_uc003xnl.2_Missense_Mutation_p.F255L	p.F381L	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	12	1218	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	381			Extracellular (Potential).		P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.1143C>G	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	11.72	1.721482	0.30503	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.01947	5.13;4.54;5.38;5.34	5.11	2.07	0.26955	Metallopeptidase, catalytic domain (1);	.	.	.	.	T	0.01800	0.0057	N	0.17631	0.505	0.09310	N	1	B;B;B;B	0.14438	0.01;0.009;0.008;0.005	B;B;B;B	0.23018	0.019;0.011;0.043;0.019	T	0.49214	-0.8963	8	.	.	.	.	7.2813	0.26312	0.3303:0.0:0.6697:0.0	.	381;255;362;381	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	L	362;255;381;381	ENSP00000343854:F362L;ENSP00000369182:F255L;ENSP00000265708:F381L;ENSP00000429352:F381L	.	F	-	3	2	ADAM2	39746137	0.994000	0.37717	0.066000	0.19879	0.006000	0.05464	1.063000	0.30567	0.551000	0.29008	0.650000	0.86243	TTC		0.443	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		3	52	0	0	0	0	3	52				
HOOK3	84376	broad.mit.edu	37	8	42821703	42821703	+	Silent	SNP	G	G	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:42821703G>C	ENST00000307602.4	+	10	1067	c.867G>C	c.(865-867)ctG>ctC	p.L289L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	289					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			ATGATGAACTGACCACTTTGG	0.448			T	RET	papillary thyroid																																	uc003xpr.2		NA		Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				ovary(1)|breast(1)	2						c.(865-867)CTG>CTC		golgi-associated microtubule-binding protein							173.0	160.0	164.0					8																	42821703		2203	4300	6503	SO:0001819	synonymous_variant	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42821703G>C	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.867G>C	8.37:g.42821703G>C						HOOK3_uc010lxq.1_Silent_p.L289L	p.L289L	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		10	1109	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	289			Potential.		D3DSY8|Q8NBH0|Q9BY13	Silent	SNP	ENST00000307602.4	37	c.867G>C	CCDS6139.1																																																																																				0.448	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410		4	89	0	0	0	0	4	89				
PRKDC	5591	broad.mit.edu	37	8	48801649	48801649	+	Silent	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:48801649C>A	ENST00000314191.2	-	34	4259	c.4203G>T	c.(4201-4203)ctG>ctT	p.L1401L	PRKDC_ENST00000338368.3_Silent_p.L1401L|AC103686.1_ENST00000390136.2_RNA|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1402					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GAGCTTTCATCAGATTCACAC	0.483								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NA																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(4204-4206)CTG>CTT	NHEJ	protein kinase, DNA-activated, catalytic							103.0	102.0	102.0					8																	48801649		1951	4139	6090	SO:0001819	synonymous_variant	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48801649C>A		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4203G>T	8.37:g.48801649C>A						PRKDC_uc003xqj.2_Silent_p.L1402L|PRKDC_uc011ldh.1_Intron	p.L1402L	NM_006904	NP_008835	P78527	PRKDC_HUMAN			34	4263	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	1402					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	ENST00000314191.2	37	c.4206G>T																																																																																					0.483	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001081640		6	60	1	0	0.00116845	0.00122806	6	60				
MCM4	4173	broad.mit.edu	37	8	48882491	48882491	+	Silent	SNP	A	A	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:48882491A>C	ENST00000262105.2	+	10	1517	c.1308A>C	c.(1306-1308)gcA>gcC	p.A436A	MCM4_ENST00000523944.1_Silent_p.A436A|MCM4_ENST00000518680.1_3'UTR	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	436					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ATGAAGAAGCAGAACAGAAAC	0.423																																						uc003xqk.1		NA																	0				ovary(2)|skin(2)	4						c.(1306-1308)GCA>GCC		minichromosome maintenance complex component 4							153.0	148.0	150.0					8																	48882491		2203	4300	6503	SO:0001819	synonymous_variant	4173				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	g.chr8:48882491A>C		CCDS6143.1	8q12-q13	2008-02-05	2007-04-04		ENSG00000104738	ENSG00000104738			6947	protein-coding gene	gene with protein product		602638	"""MCM4 minichromosome maintenance deficient 4 (S. cerevisiae)"""	CDC21		7601140	Standard	NM_005914		Approved	CDC54, hCdc21, P1-Cdc21, MGC33310	uc003xql.2	P33991	OTTHUMG00000164205	ENST00000262105.2:c.1308A>C	8.37:g.48882491A>C						MCM4_uc003xql.1_Silent_p.A436A|MCM4_uc011ldi.1_Silent_p.A423A	p.A436A	NM_182746	NP_877423	P33991	MCM4_HUMAN			11	1403	+		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)	436					Q8NEH1|Q99658	Silent	SNP	ENST00000262105.2	37	c.1308A>C	CCDS6143.1																																																																																				0.423	MCM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377791.1	NM_005914		29	115	0	0	0	0	29	115				
RP1	6101	broad.mit.edu	37	8	55541982	55541982	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:55541982T>C	ENST00000220676.1	+	4	5688	c.5540T>C	c.(5539-5541)aTa>aCa	p.I1847T		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1847					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAGGAAAGAATAGCAAATCAT	0.408																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1		NA																	0				skin(7)|ovary(4)|pancreas(1)	12						c.(5539-5541)ATA>ACA		retinitis pigmentosa RP1 protein							106.0	101.0	102.0					8																	55541982		2203	4300	6503	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55541982T>C	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.5540T>C	8.37:g.55541982T>C	ENSP00000220676:p.Ile1847Thr					RP1_uc011ldy.1_Intron	p.I1847T	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	5688	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	1847						Missense_Mutation	SNP	ENST00000220676.1	37	c.5540T>C	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	T	0.821	-0.748494	0.03065	.	.	ENSG00000104237	ENST00000220676	T	0.48201	0.82	6.03	2.45	0.29901	.	0.713794	0.12589	N	0.455762	T	0.30166	0.0756	L	0.35414	1.06	0.09310	N	1	B	0.22346	0.068	B	0.13407	0.009	T	0.18209	-1.0344	10	0.13470	T	0.59	.	5.9887	0.19448	0.1369:0.151:0.0:0.7122	.	1847	P56715	RP1_HUMAN	T	1847	ENSP00000220676:I1847T	ENSP00000220676:I1847T	I	+	2	0	RP1	55704535	0.000000	0.05858	0.040000	0.18447	0.509000	0.34042	0.073000	0.14640	1.080000	0.41073	0.533000	0.62120	ATA		0.408	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		18	43	0	0	0	0	18	43				
MATN2	4147	broad.mit.edu	37	8	99006720	99006720	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:99006720G>T	ENST00000520016.1	+	6	1218	c.1094G>T	c.(1093-1095)tGt>tTt	p.C365F	MATN2_ENST00000524308.1_Intron|MATN2_ENST00000254898.5_Missense_Mutation_p.C365F|MATN2_ENST00000522025.2_Missense_Mutation_p.C81F|MATN2_ENST00000521689.1_Missense_Mutation_p.C365F			O00339	MATN2_HUMAN	matrilin 2	365	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			ATAGACTACTGTGCCTCATCT	0.423																																						uc003yic.2		NA																	0				ovary(2)	2						c.(1093-1095)TGT>TTT		matrilin 2 isoform a precursor							200.0	195.0	197.0					8																	99006720		1933	4146	6079	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:99006720G>T	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.1094G>T	8.37:g.99006720G>T	ENSP00000430487:p.Cys365Phe					MATN2_uc003yib.1_Missense_Mutation_p.C365F|MATN2_uc010mbh.1_Intron|MATN2_uc003yid.2_Missense_Mutation_p.C365F|MATN2_uc003yie.1_Missense_Mutation_p.C365F|MATN2_uc010mbi.1_Missense_Mutation_p.C198F	p.C365F	NM_002380	NP_002371	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		7	1325	+	Breast(36;1.43e-06)		365			EGF-like 4.		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.1094G>T	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	19.86	3.905440	0.72868	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000522025;ENST00000520016;ENST00000519585;ENST00000522270	D;D;D;D;D;D	0.99966	-10.09;-10.09;-10.09;-10.09;-10.09;-10.09	5.73	5.73	0.89815	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000013	D	0.99984	0.9995	H	0.99182	4.46	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	D	0.99764	1.1022	10	0.87932	D	0	-14.0189	16.8302	0.85942	0.0:0.0:1.0:0.0	.	365;365;365;365	E9PF03;O00339-2;O00339;Q8N2G3	.;.;MATN2_HUMAN;.	F	365;365;81;365;81;62	ENSP00000429977:C365F;ENSP00000254898:C365F;ENSP00000429010:C81F;ENSP00000430487:C365F;ENSP00000429042:C81F;ENSP00000429825:C62F	ENSP00000254898:C365F	C	+	2	0	MATN2	99075896	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.931000	0.87625	2.708000	0.92522	0.467000	0.42956	TGT		0.423	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			45	157	1	0	1.02e-35	1.2e-35	45	157				
COL14A1	7373	broad.mit.edu	37	8	121216036	121216036	+	Silent	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:121216036G>A	ENST00000297848.3	+	9	1236	c.966G>A	c.(964-966)ctG>ctA	p.L322L	COL14A1_ENST00000309791.4_Silent_p.L322L|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Silent_p.L322L|COL14A1_ENST00000247781.3_Silent_p.L227L	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATTCGATCTGATGCACACAG	0.483																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(964-966)CTG>CTA		collagen, type XIV, alpha 1 precursor							130.0	111.0	118.0					8																	121216036		2203	4300	6503	SO:0001819	synonymous_variant	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121216036G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.966G>A	8.37:g.121216036G>A						COL14A1_uc003yoy.2_5'UTR|COL14A1_uc010mde.1_5'UTR	p.L322L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		9	1231	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		322			VWFA 1.			Silent	SNP	ENST00000297848.3	37	c.966G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	7.799	0.713260	0.15306	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.21	2.26	0.28386	.	.	.	.	.	T	0.54581	0.1867	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.47275	-0.9130	4	.	.	.	.	6.5958	0.22672	0.076:0.4847:0.3219:0.1173	.	.	.	.	N	79	.	.	D	+	1	0	COL14A1	121285217	0.997000	0.39634	1.000000	0.80357	0.790000	0.44656	0.410000	0.21098	0.709000	0.31976	-0.175000	0.13238	GAT		0.483	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		4	42	0	0	0	0	4	42				
ZNF623	9831	broad.mit.edu	37	8	144732947	144732947	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:144732947A>T	ENST00000501748.2	+	1	994	c.905A>T	c.(904-906)cAt>cTt	p.H302L	ZNF623_ENST00000526926.1_Missense_Mutation_p.H262L|ZNF623_ENST00000458270.2_Missense_Mutation_p.H262L	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	302					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(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCATTCCGTCATCGCTCAGAC	0.453																																						uc003yzd.2		NA																	0					0						c.(904-906)CAT>CTT		zinc finger protein 623 isoform 1							101.0	93.0	96.0					8																	144732947		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732947A>T	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.905A>T	8.37:g.144732947A>T	ENSP00000445979:p.His302Leu					ZNF623_uc011lkp.1_Missense_Mutation_p.H262L|ZNF623_uc003yzc.2_Missense_Mutation_p.H262L	p.H302L	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	994	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		302			C2H2-type 7.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.905A>T	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	A	12.72	2.023007	0.35701	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.06218	3.33;3.33;3.33	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02688	0.0081	N	0.05619	-0.0049999999999999	0.09310	N	1	P	0.42827	0.791	B	0.34824	0.19	T	0.37776	-0.9691	9	0.18710	T	0.47	-9.1735	6.5048	0.22188	0.8916:0.0:0.1084:0.0	.	302	O75123	ZN623_HUMAN	L	262;262;262;302;302	ENSP00000435232:H262L;ENSP00000411139:H262L;ENSP00000445979:H302L	ENSP00000330358:H262L	H	+	2	0	ZNF623	144804090	0.000000	0.05858	0.454000	0.27019	0.724000	0.41520	0.365000	0.20348	1.911000	0.55334	0.533000	0.62120	CAT		0.453	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		13	47	0	0	0	0	13	47				
CPSF1	29894	broad.mit.edu	37	8	145621932	145621932	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr8:145621932C>A	ENST00000349769.3	-	25	2801	c.2707G>T	c.(2707-2709)Gag>Tag	p.E903*	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	903					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGCTTCTTCTCACGGAAGTTG	0.642																																					NSCLC(133;1088 1848 27708 34777 35269)	uc003zcj.2		NA																	0				skin(1)	1						c.(2707-2709)GAG>TAG		cleavage and polyadenylation specific factor 1,							75.0	91.0	85.0					8																	145621932		2203	4300	6503	SO:0001587	stop_gained	29894				mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	g.chr8:145621932C>A	U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2707G>T	8.37:g.145621932C>A	ENSP00000339353:p.Glu903*						p.E903*	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		25	2782	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		903			Nuclear localization signal (Potential).		Q96AF0	Nonsense_Mutation	SNP	ENST00000349769.3	37	c.2707G>T	CCDS34966.1	.	.	.	.	.	.	.	.	.	.	c	43	9.832438	0.99275	.	.	ENSG00000071894	ENST00000349769	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-7.2126	14.4114	0.67117	0.0:1.0:0.0:0.0	.	.	.	.	X	903	.	ENSP00000339353:E903X	E	-	1	0	CPSF1	145592740	1.000000	0.71417	0.997000	0.53966	0.863000	0.49368	6.747000	0.74872	2.555000	0.86185	0.479000	0.44913	GAG		0.642	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2	NM_013291		33	99	1	0	8.16e-20	9.55e-20	33	99				
ELAVL2	1993	broad.mit.edu	37	9	23731115	23731115	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:23731115A>T	ENST00000397312.2	-	3	512	c.238T>A	c.(238-240)Ttg>Atg	p.L80M	ELAVL2_ENST00000380117.1_Missense_Mutation_p.L80M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.L109M|ELAVL2_ENST00000544538.1_Missense_Mutation_p.L80M|ELAVL2_ENST00000223951.6_Missense_Mutation_p.L80M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	80	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CCATATCCCAAGCTCTGCCCT	0.383																																						uc003zpu.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(238-240)TTG>ATG		ELAV (embryonic lethal, abnormal vision,							111.0	93.0	99.0					9																	23731115		2203	4299	6502	SO:0001583	missense	1993				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	g.chr9:23731115A>T	BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.238T>A	9.37:g.23731115A>T	ENSP00000380479:p.Leu80Met					ELAVL2_uc003zps.2_Missense_Mutation_p.L80M|ELAVL2_uc003zpt.2_Missense_Mutation_p.L80M|ELAVL2_uc003zpv.2_Missense_Mutation_p.L80M|ELAVL2_uc003zpw.2_Missense_Mutation_p.L80M	p.L80M	NM_004432	NP_004423	Q12926	ELAV2_HUMAN		GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)	3	513	-			80			RRM 1.		D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	c.238T>A	CCDS6515.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.016036	0.75161	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598;ENST00000440102	T;T;T;T;T	0.74842	3.3;-0.88;-0.88;-0.88;3.3	5.87	5.87	0.94306	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.79759	0.4501	L	0.31157	0.91	0.80722	D	1	B;P	0.40066	0.398;0.701	P;P	0.59825	0.713;0.864	T	0.81258	-0.1014	10	0.72032	D	0.01	.	16.2377	0.82389	1.0:0.0:0.0:0.0	.	80;80	Q12926;Q12926-2	ELAV2_HUMAN;.	M	80;80;80;80;80;108;80	ENSP00000223951:L80M;ENSP00000380479:L80M;ENSP00000440998:L80M;ENSP00000369460:L80M;ENSP00000412602:L80M	ENSP00000223951:L80M	L	-	1	2	ELAVL2	23721115	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.783000	0.47766	2.371000	0.80710	0.533000	0.62120	TTG		0.383	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		8	18	0	0	0	0	8	18				
FRMPD1	22844	broad.mit.edu	37	9	37735705	37735705	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:37735705G>A	ENST00000539465.1	+	13	1968	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	FRMPD1_ENST00000536622.1_Missense_Mutation_p.V281I|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.V459I|FRMPD1_ENST00000541302.1_Missense_Mutation_p.V328I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	459	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGTGAGCGTCGTCAAAGTGTA	0.453																																						uc004aag.1		NA																	0				ovary(4)|central_nervous_system(2)|skin(2)|breast(1)	9						c.(1375-1377)GTC>ATC		FERM and PDZ domain containing 1							98.0	96.0	97.0					9																	37735705		2203	4300	6503	SO:0001583	missense	22844					cytoskeleton|cytosol|plasma membrane		g.chr9:37735705G>A	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1375G>A	9.37:g.37735705G>A	ENSP00000444411:p.Val459Ile					FRMPD1_uc004aah.1_Missense_Mutation_p.V459I|FRMPD1_uc011lqm.1_Missense_Mutation_p.V281I|FRMPD1_uc011lqn.1_Missense_Mutation_p.V328I	p.V459I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN		GBM - Glioblastoma multiforme(29;0.00655)	13	1419	+			459			FERM.		B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	c.1375G>A	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	19.94	3.919296	0.73098	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.8	5.8	0.92144	FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.17280	0.0415	L	0.48877	1.53	0.80722	D	1	P;D	0.53745	0.926;0.962	B;B	0.42882	0.163;0.401	T	0.00386	-1.1772	10	0.52906	T	0.07	-25.1919	17.5478	0.87867	0.0:0.0:1.0:0.0	.	328;459	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	I	459;459;281;328	ENSP00000366995:V459I;ENSP00000444411:V459I;ENSP00000437762:V281I;ENSP00000444804:V328I	ENSP00000366995:V459I	V	+	1	0	FRMPD1	37725705	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.251000	0.72441	2.757000	0.94681	0.655000	0.94253	GTC		0.453	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907		7	29	0	0	0	0	7	29				
KIAA0368	23392	broad.mit.edu	37	9	114173379	114173379	+	Missense_Mutation	SNP	G	G	A	rs371781434		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:114173379G>A	ENST00000338205.5	-	21	2477	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	KIAA0368_ENST00000259335.4_Missense_Mutation_p.T931M|RNA5SP294_ENST00000411306.1_RNA|KIAA0368_ENST00000374378.3_5'Flank			Q5VYK3	ECM29_HUMAN	KIAA0368	759					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCTTCCCACCGTGAATCCCAA	0.438																																						uc004bfe.1		NA																	0					0						c.(2791-2793)ACG>ATG		KIAA0368 protein		G	MET/THR	0,3822		0,0,1911	254.0	241.0	245.0		2792	5.3	1.0	9		245	3,8247		0,3,4122	no	missense	KIAA0368	NM_001080398.1	81	0,3,6033	AA,AG,GG		0.0364,0.0,0.0249	benign	931/2018	114173379	3,12069	1911	4125	6036	SO:0001583	missense	23392							g.chr9:114173379G>A	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.2258C>T	9.37:g.114173379G>A	ENSP00000339889:p.Thr753Met						p.T931M	NM_001080398	NP_001073867					23	2792	-								O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	37	c.2792C>T		.	.	.	.	.	.	.	.	.	.	G	13.25	2.179831	0.38511	0.0	3.64E-4	ENSG00000136813	ENST00000338205;ENST00000259335;ENST00000543827	T	0.63913	-0.07	5.3	5.3	0.74995	.	0.055795	0.64402	D	0.000001	T	0.43919	0.1269	N	0.15975	0.35	0.80722	D	1	B	0.19583	0.037	B	0.12837	0.008	T	0.34030	-0.9845	10	0.31617	T	0.26	.	12.3209	0.54983	0.0777:0.0:0.9223:0.0	.	228	B3KXF2	.	M	753;931;228	ENSP00000259335:T931M	ENSP00000259335:T931M	T	-	2	0	KIAA0368	113213200	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.354000	0.73036	2.461000	0.83175	0.561000	0.74099	ACG		0.438	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686		5	196	0	0	0	0	5	196				
AMBP	259	broad.mit.edu	37	9	116823281	116823281	+	Silent	SNP	G	G	A	rs372255857		TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr9:116823281G>A	ENST00000265132.3	-	9	1213	c.951C>T	c.(949-951)taC>taT	p.Y317Y		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	317	BPTI/Kunitz inhibitor 2. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|female pregnancy (GO:0007565)|heme catabolic process (GO:0042167)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of JNK cascade (GO:0046329)|protein catabolic process (GO:0030163)|protein-chromophore linkage (GO:0018298)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|calcium oxalate binding (GO:0046904)|heme binding (GO:0020037)|IgA binding (GO:0019862)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase inhibitor activity (GO:0004867)|small molecule binding (GO:0036094)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGCAGCCCCCGTAGGGGAAGA	0.622																																						uc004bie.3		NA																	0				skin(1)	1						c.(949-951)TAC>TAT		alpha-1-microglobulin/bikunin preproprotein	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	G		1,4405	2.1+/-5.4	0,1,2202	73.0	74.0	74.0		951	-12.0	0.0	9		74	0,8600		0,0,4300	no	coding-synonymous	AMBP	NM_001633.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		317/353	116823281	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	259				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity	g.chr9:116823281G>A	X04494	CCDS6800.1	9q32-q33	2014-01-22			ENSG00000106927	ENSG00000106927		"""Lipocalins"""	453	protein-coding gene	gene with protein product	"""growth-inhibiting protein 19"", ""uristatin"", ""complex-forming glycoprotein heterogeneous in charge"", ""bikunin"", ""inter-alpha-trypsin inhibitor light chain"", ""protein HC"", ""uronic-acid-rich protein"", ""trypstatin"""	176870		ITI, ITIL		1708673, 1385302	Standard	NM_001633		Approved	UTI, HCP, EDC1, HI30, IATIL, ITILC	uc004bie.4	P02760	OTTHUMG00000020534	ENST00000265132.3:c.951C>T	9.37:g.116823281G>A						AMBP_uc011lxk.1_3'UTR	p.Y317Y	NM_001633	NP_001624	P02760	AMBP_HUMAN			9	1214	-			317			BPTI/Kunitz inhibitor 2.		P00977|P02759|P78491|Q2TU33|Q5TBD7|Q9UC58|Q9UDI8	Silent	SNP	ENST00000265132.3	37	c.951C>T	CCDS6800.1																																																																																				0.622	AMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053758.2	NM_001633		6	105	0	0	0	0	6	105				
IL1RAPL1	11141	broad.mit.edu	37	X	29417365	29417365	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:29417365A>G	ENST00000378993.1	+	5	1316	c.643A>G	c.(643-645)Acc>Gcc	p.T215A	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.T215A	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	215	Ig-like C2-type 2.				calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGGAAATTATACCTGTGAATT	0.343																																						uc004dby.2		NA																	0				ovary(3)|lung(1)|pancreas(1)	5						c.(643-645)ACC>GCC		interleukin 1 receptor accessory protein-like 1							74.0	72.0	73.0					X																	29417365		2202	4294	6496	SO:0001583	missense	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29417365A>G	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	ENST00000378993.1:c.643A>G	X.37:g.29417365A>G	ENSP00000368278:p.Thr215Ala						p.T215A	NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN			5	1151	+			215			Ig-like C2-type 2.|Extracellular (Potential).		A0AVG4|Q9UJ53	Missense_Mutation	SNP	ENST00000378993.1	37	c.643A>G	CCDS14218.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377634	0.82682	.	.	ENSG00000169306	ENST00000378993;ENST00000302196	T;T	0.15487	2.42;2.42	5.75	5.75	0.90469	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	M	0.89353	3.025	0.46954	D	0.999265	D	0.89917	1.0	D	0.91635	0.999	T	0.57136	-0.7863	9	.	.	.	.	14.1417	0.65325	1.0:0.0:0.0:0.0	.	215	Q9NZN1	IRPL1_HUMAN	A	215	ENSP00000368278:T215A;ENSP00000305200:T215A	.	T	+	1	0	IL1RAPL1	29327286	1.000000	0.71417	0.974000	0.42286	0.962000	0.63368	8.962000	0.93254	1.938000	0.56188	0.425000	0.28330	ACC		0.343	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	NM_014271		8	28	0	0	0	0	8	28				
FAM47A	158724	broad.mit.edu	37	X	34148157	34148157	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:34148157C>A	ENST00000346193.3	-	1	2290	c.2239G>T	c.(2239-2241)Ggc>Tgc	p.G747C		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	747										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ATTTCATAGCCCTTGCTTAGA	0.408																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(2239-2241)GGC>TGC		hypothetical protein LOC158724							120.0	117.0	118.0					X																	34148157		2202	4297	6499	SO:0001583	missense	158724							g.chrX:34148157C>A	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.2239G>T	X.37:g.34148157C>A	ENSP00000345029:p.Gly747Cys						p.G747C	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	2272	-			747					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.2239G>T	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.224253	0.39300	.	.	ENSG00000185448	ENST00000346193	T	0.21361	2.01	1.17	1.17	0.20885	.	.	.	.	.	T	0.44519	0.1297	M	0.85041	2.73	0.09310	N	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.13415	-1.0510	9	0.87932	D	0	.	5.3637	0.16101	0.0:1.0:0.0:0.0	.	747	Q5JRC9	FA47A_HUMAN	C	747	ENSP00000345029:G747C	ENSP00000345029:G747C	G	-	1	0	FAM47A	34058078	0.576000	0.26700	0.252000	0.24328	0.425000	0.31504	0.835000	0.27531	0.880000	0.35969	0.544000	0.68410	GGC		0.408	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		14	68	1	0	4.38e-07	4.95e-07	14	68				
IL1RAPL2	26280	broad.mit.edu	37	X	105011054	105011054	+	Silent	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:105011054C>T	ENST00000372582.1	+	11	2217	c.1461C>T	c.(1459-1461)ttC>ttT	p.F487F	IL1RAPL2_ENST00000344799.4_Silent_p.F487F	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	487	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGTATTTTCGAACTGGAAA	0.388																																						uc004elz.1		NA																	0				breast(2)|ovary(1)	3						c.(1459-1461)TTC>TTT		interleukin 1 receptor accessory protein-like 2							94.0	87.0	89.0					X																	105011054		2203	4300	6503	SO:0001819	synonymous_variant	26280				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	g.chrX:105011054C>T	AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1461C>T	X.37:g.105011054C>T							p.F487F	NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN			11	2217	+			487			Cytoplasmic (Potential).|TIR.		Q2M3U3|Q9NZN0	Silent	SNP	ENST00000372582.1	37	c.1461C>T	CCDS14517.1																																																																																				0.388	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057785.1	NM_017416		10	41	0	0	0	0	10	41				
MUM1L1	139221	broad.mit.edu	37	X	105450642	105450642	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:105450642G>A	ENST00000357175.2	+	4	1866	c.1217G>A	c.(1216-1218)tGg>tAg	p.W406*	MUM1L1_ENST00000337685.2_Nonsense_Mutation_p.W406*|MUM1L1_ENST00000372552.1_Nonsense_Mutation_p.W406*	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	406	PWWP.					extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCCATTTTGGCCAGCAGTG	0.368																																						uc004emf.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(1216-1218)TGG>TAG		melanoma associated antigen (mutated) 1-like 1							37.0	32.0	34.0					X																	105450642		1835	4076	5911	SO:0001587	stop_gained	139221							g.chrX:105450642G>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1217G>A	X.37:g.105450642G>A	ENSP00000349699:p.Trp406*					MUM1L1_uc004emg.1_Nonsense_Mutation_p.W406*	p.W406*	NM_152423	NP_689636	Q5H9M0	MUML1_HUMAN			4	1866	+			406			PWWP.		D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Nonsense_Mutation	SNP	ENST00000357175.2	37	c.1217G>A	CCDS55469.1	.	.	.	.	.	.	.	.	.	.	G	41	8.800355	0.98958	.	.	ENSG00000157502	ENST00000357175;ENST00000337685;ENST00000372552	.	.	.	4.31	4.31	0.51392	.	0.000000	0.47093	D	0.000242	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3638	11.1014	0.48177	0.0:0.0:1.0:0.0	.	.	.	.	X	406	.	ENSP00000338641:W406X	W	+	2	0	MUM1L1	105337298	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	6.359000	0.73060	2.388000	0.81334	0.529000	0.55759	TGG		0.368	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		4	4	0	0	0	0	4	4				
DOCK11	139818	broad.mit.edu	37	X	117775257	117775257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:117775257C>T	ENST00000276202.7	+	39	4312	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	DOCK11_ENST00000276204.6_Nonsense_Mutation_p.Q1417*	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1417					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						ATTTTTCACTCAGTGCTTCAA	0.378																																						uc004eqp.2		NA																	0				ovary(3)	3						c.(4249-4251)CAG>TAG		dedicator of cytokinesis 11							101.0	79.0	87.0					X																	117775257		2203	4300	6503	SO:0001587	stop_gained	139818				blood coagulation	cytosol	GTP binding	g.chrX:117775257C>T	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.4249C>T	X.37:g.117775257C>T	ENSP00000276202:p.Gln1417*					DOCK11_uc004eqq.2_Nonsense_Mutation_p.Q1196*	p.Q1417*	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN			39	4312	+			1417					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Nonsense_Mutation	SNP	ENST00000276202.7	37	c.4249C>T	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	c	44	10.707555	0.99454	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-11.7848	18.7743	0.91904	0.0:1.0:0.0:0.0	.	.	.	.	X	1417	.	ENSP00000276202:Q1417X	Q	+	1	0	DOCK11	117659285	0.971000	0.33674	1.000000	0.80357	0.979000	0.70002	2.224000	0.42945	2.465000	0.83290	0.593000	0.82588	CAG		0.378	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		6	36	0	0	0	0	6	36				
ZNF75D	7626	broad.mit.edu	37	X	134421749	134421749	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chrX:134421749C>T	ENST00000370766.3	-	7	3562	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D190N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	285	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						ATAGGATGATCATTTCCAGTG	0.363																																						uc004eyp.2		NA																	0					0						c.(853-855)GAT>AAT		zinc finger protein 75							81.0	68.0	72.0					X																	134421749		2202	4299	6501	SO:0001583	missense	7626				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134421749C>T	S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.853G>A	X.37:g.134421749C>T	ENSP00000359802:p.Asp285Asn					ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.D64N|ZNF75D_uc004eyo.2_Missense_Mutation_p.D190N	p.D285N	NM_007131	NP_009062	P51815	ZN75D_HUMAN			7	3508	-			285			KRAB.		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	ENST00000370766.3	37	c.853G>A	CCDS14648.1	.	.	.	.	.	.	.	.	.	.	C	1.061	-0.672776	0.03403	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.06371	3.31;3.32	2.94	1.02	0.19986	Krueppel-associated box (2);	0.198819	0.25055	N	0.033493	T	0.04048	0.0113	L	0.46157	1.445	0.09310	N	1	P;P	0.37466	0.596;0.596	B;B	0.29862	0.108;0.108	T	0.39901	-0.9591	10	0.21014	T	0.42	.	3.3737	0.07230	0.4618:0.401:0.0:0.1373	.	285;190	P51815;A6NK62	ZN75D_HUMAN;.	N	285;190	ENSP00000359802:D285N;ENSP00000359800:D190N	ENSP00000359800:D190N	D	-	1	0	ZNF75D	134249415	0.657000	0.27393	0.109000	0.21407	0.126000	0.20510	1.476000	0.35420	0.136000	0.18733	-0.600000	0.04104	GAT		0.363	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058415.1	NM_007131		4	38	0	0	0	0	4	38				
GBP3	2635	broad.mit.edu	37	1	89476691	89476693	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr1:89476691_89476693delCTT	ENST00000370481.4	-	8	1476_1478	c.1256_1258delAAG	c.(1255-1260)gaagtg>gtg	p.E419del		NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	0					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		CCCGCCTTCACTTCTTCTTCTAG	0.419																																						uc001dmt.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1255-1260)GAAGTG>GTG		guanylate binding protein 3																																				SO:0001651	inframe_deletion	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89476691_89476693delCTT	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.1256_1258delAAG	1.37:g.89476697_89476699delCTT	ENSP00000359512:p.Glu419del					GBP3_uc010oss.1_In_Frame_Del_p.E340del|GBP3_uc001dmu.2_In_Frame_Del_p.E285del|GBP3_uc001dmv.2_Intron	p.E419del	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	8	1461_1463	-		Lung NSC(277;0.123)	419					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	In_Frame_Del	DEL	ENST00000370481.4	37	c.1256_1258delAAG	CCDS717.2																																																																																				0.419	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		33	223	NA	NA	NA	NA	33	223	---	---	---	---
OR4S2	219431	broad.mit.edu	37	11	55418983	55419001	+	Frame_Shift_Del	DEL	GGTACCATTGCTCTGGGGA	GGTACCATTGCTCTGGGGA	-	rs564967829|rs556286481|rs139625934	byFrequency	TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr11:55418983_55419001delGGTACCATTGCTCTGGGGA	ENST00000312422.2	+	1	604_622	c.604_622delGGTACCATTGCTCTGGGGA	c.(604-624)ggtaccattgctctggggagtfs	p.GTIALGS202fs		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	202						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T203T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCCAACAGTGGTACCATTGCTCTGGGGAGTTTTGTTAT	0.475																																						uc001nhs.1		NA																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)	skin(2)|ovary(1)	3						c.(604-624)GGTACCATTGCTCTGGGGAGTfs		olfactory receptor, family 4, subfamily S,																																				SO:0001589	frameshift_variant	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418983_55419001delGGTACCATTGCTCTGGGGA	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.604_622delGGTACCATTGCTCTGGGGA	11.37:g.55418983_55419001delGGTACCATTGCTCTGGGGA	ENSP00000310337:p.Gly202fs						p.G202fs	NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN			1	604_622	+		all_epithelial(135;0.0748)	202_208			Helical; Name=5; (Potential).		Q6IF72	Frame_Shift_Del	DEL	ENST00000312422.2	37	c.604_622delGGTACCATTGCTCTGGGGA	CCDS31505.1																																																																																				0.475	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		18	127	NA	NA	NA	NA	18	127	---	---	---	---
SMG1	23049	broad.mit.edu	37	16	18840818	18840819	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr16:18840818_18840819delTT	ENST00000446231.2	-	54	9804_9805	c.9392_9393delAA	c.(9391-9393)aaafs	p.K3131fs	SMG1_ENST00000389467.3_Frame_Shift_Del_p.K3131fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3131					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAACAGAAACTTTGCTTTCGGC	0.465																																						uc002dfm.2		NA																	0				breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1)	16						c.(9391-9393)AAAfs		PI-3-kinase-related kinase SMG-1																																				SO:0001589	frameshift_variant	23049				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr16:18840818_18840819delTT	AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9392_9393delAA	16.37:g.18840818_18840819delTT	ENSP00000402515:p.Lys3131fs					SMG1_uc010bwb.2_Frame_Shift_Del_p.K2991fs|SMG1_uc010bwa.2_Frame_Shift_Del_p.K1862fs	p.K3131fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN			54	9755_9756	-			3131					O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Frame_Shift_Del	DEL	ENST00000446231.2	37	c.9392_9393delAA	CCDS45430.1																																																																																				0.465	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092		10	49	NA	NA	NA	NA	10	49	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	883110	883110	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-6020-01A-11D-1683-08	TCGA-CN-6020-10A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	1f33c4c7-4f08-44a2-91f5-7ed2d7da68f0	6cfc6be3-b8b6-4934-aa2f-7d2e7fd53ec2	g.chr7:883110delC	ENST00000405266.1	+	5	635	c.611delC	c.(610-612)gccfs	p.A204fs	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000456758.2_Frame_Shift_Del_p.A262fs|SUN1_ENST00000401592.1_Frame_Shift_Del_p.A204fs|SUN1_ENST00000457378.2_Frame_Shift_Del_p.A225fs|SUN1_ENST00000425407.2_Frame_Shift_Del_p.A154fs|SUN1_ENST00000389574.3_Frame_Shift_Del_p.A154fs|SUN1_ENST00000403868.1_Frame_Shift_Del_p.A204fs			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	204				A -> P (in Ref. 5; AAH13613). {ECO:0000305}.	cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCCCGCGGCCCCCGGGCCC	0.557																																						uc011jvp.1		NA																	0					0						c.(610-612)GCCfs		unc-84 homolog A isoform a							91.0	108.0	102.0					7																	883110		1929	4114	6043	SO:0001589	frameshift_variant	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:883110delC	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000405266.1:c.611delC	7.37:g.883110delC	ENSP00000384116:p.Ala204fs					SUN1_uc010ksa.1_Frame_Shift_Del_p.A225fs|SUN1_uc003sje.1_Frame_Shift_Del_p.A204fs|SUN1_uc003sjf.2_Frame_Shift_Del_p.A154fs|SUN1_uc011jvq.1_Intron|SUN1_uc003sjg.2_Frame_Shift_Del_p.A15fs	p.A204fs	NM_001130965	NP_001124437	O94901	SUN1_HUMAN			6	690	+			204	A -> P (in Ref. 5; AAH13613).		Nuclear.		A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Frame_Shift_Del	DEL	ENST00000405266.1	37	c.611delC																																																																																					0.557	SUN1-001	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000322566.1	NM_025154		81	263	NA	NA	NA	NA	81	263	---	---	---	---
