#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_ACHILLES_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
VWA1	64856	broad.mit.edu	37	1	1372746	1372746	+	Silent	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:1372746C>A	ENST00000476993.1	+	2	591	c.513C>A	c.(511-513)ggC>ggA	p.G171G	RP4-758J18.10_ENST00000417917.1_lincRNA|VWA1_ENST00000338660.5_Missense_Mutation_p.P40T|VWA1_ENST00000404702.3_5'UTR	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	171	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614)		p.G171G(1)		NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCAGCACCGGCCGAGGCAACT	0.632																																							uc001afs.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(511-513)GGC>GGA		von Willebrand factor A domain containing 1							37.0	38.0	38.0					1																	1372746		2200	4292	6492	SO:0001819	synonymous_variant	64856					basement membrane		g.chr1:1372746C>A	BC059409	CCDS27.1, CCDS28.1, CCDS28.2	1p36.33	2013-02-11			ENSG00000179403	ENSG00000179403		"""Fibronectin type III domain containing"""	30910	protein-coding gene	gene with protein product		611901				14527666, 12062410	Standard	NM_022834		Approved	FLJ22215, VWA-1, WARP	uc001afs.3	Q6PCB0	OTTHUMG00000002975	ENST00000476993.1:c.513C>A	1.37:g.1372746C>A						VWA1_uc001afr.2_5'UTR	p.G171G	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	2	733	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	171			VWFA.		A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5	Silent	SNP	ENST00000476993.1	37	c.513C>A	CCDS27.1	.	.	.	.	.	.	.	.	.	.	.	1.617	-0.522625	0.04141	.	.	ENSG00000179403	ENST00000338660	.	.	.	4.68	-2.16	0.07080	.	.	.	.	.	T	0.54498	0.1862	.	.	.	0.42732	D	0.993718	.	.	.	.	.	.	T	0.56517	-0.7966	5	0.87932	D	0	-21.5223	3.0041	0.06023	0.1065:0.4514:0.1047:0.3374	.	.	.	.	T	40	.	ENSP00000423404:P40T	P	+	1	0	VWA1	1362609	0.002000	0.14202	0.091000	0.20842	0.237000	0.25408	-1.648000	0.01995	-0.352000	0.08237	-0.225000	0.12378	CCG		0.632	VWA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008291.1	NM_022834		15	5	1	0	3.45872e-05	0.028581	3.84302e-05	15	5				
C1orf94	84970	broad.mit.edu	37	1	34666416	34666416	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:34666416C>A	ENST00000488417.1	+	3	1173	c.1053C>A	c.(1051-1053)agC>agA	p.S351R	C1orf94_ENST00000373374.3_Missense_Mutation_p.S161R	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	351								p.S161R(1)|p.S351R(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GTCAAGGGAGCCTCTTTCTCA	0.592																																							uc001bxs.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(481-483)AGC>AGA		hypothetical protein LOC84970 isoform b							72.0	69.0	70.0					1																	34666416		2203	4300	6503	SO:0001583	missense	84970						protein binding	g.chr1:34666416C>A	AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1053C>A	1.37:g.34666416C>A	ENSP00000435634:p.Ser351Arg					C1orf94_uc001bxt.2_Missense_Mutation_p.S351R	p.S161R	NM_032884	NP_116273	Q6P1W5	CA094_HUMAN			3	882	+		Myeloproliferative disorder(586;0.0393)	161					B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.483C>A	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573765	0.45902	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.33654	1.4;1.4	5.61	3.74	0.42951	.	0.643671	0.15291	N	0.270142	T	0.35219	0.0924	L	0.55481	1.735	0.29759	N	0.835678	P	0.43701	0.815	B	0.43251	0.413	T	0.36359	-0.9751	10	0.66056	D	0.02	-18.8238	7.407	0.26995	0.0:0.8101:0.0:0.1899	.	351	Q6P1W5	CA094_HUMAN	R	161;351	ENSP00000362472:S161R;ENSP00000435634:S351R	ENSP00000362472:S161R	S	+	3	2	C1orf94	34439003	0.994000	0.37717	0.999000	0.59377	0.269000	0.26545	1.601000	0.36773	1.369000	0.46134	0.655000	0.94253	AGC		0.592	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2	NM_032884		36	7	1	0	2.47316e-13	0.015359	3.40059e-13	36	7				
TMEM53	79639	broad.mit.edu	37	1	45120854	45120854	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:45120854G>A	ENST00000372237.3	-	3	374	c.211C>T	c.(211-213)Ccg>Tcg	p.P71S	TMEM53_ENST00000372235.3_Intron|TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Missense_Mutation_p.P71S	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	71						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.P71S(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					ATGTGCCACGGGGCTGTGTAT	0.552											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc001cmc.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(211-213)CCG>TCG		transmembrane protein 53							46.0	50.0	49.0					1																	45120854		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120854G>A		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.211C>T	1.37:g.45120854G>A	ENSP00000361311:p.Pro71Ser		OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	929	TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_5'UTR|TMEM53_uc009vxh.1_Intron|TMEM53_uc010ola.1_Intron	p.P71S	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			3	247	-	Acute lymphoblastic leukemia(166;0.155)		71					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.211C>T	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232495	0.79688	.	.	ENSG00000126106	ENST00000372242;ENST00000372237	.	.	.	5.84	5.84	0.93424	.	0.049694	0.85682	D	0.000000	T	0.77205	0.4096	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	T	0.72918	-0.4146	9	0.20519	T	0.43	.	15.6064	0.76676	0.0:0.1369:0.8631:0.0	.	71	Q6P2H8	TMM53_HUMAN	S	71	.	ENSP00000361311:P71S	P	-	1	0	TMEM53	44893441	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.527000	0.73803	2.769000	0.95229	0.563000	0.77884	CCG		0.552	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1	NM_024587		12	29	0	0	0	0.024245	0	12	29				
INADL	10207	broad.mit.edu	37	1	62235060	62235060	+	Missense_Mutation	SNP	G	G	T	rs560787067		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:62235060G>T	ENST00000371158.2	+	5	604	c.490G>T	c.(490-492)Gtg>Ttg	p.V164L	INADL_ENST00000316485.6_Missense_Mutation_p.V164L	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	164	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.V164L(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TGATATCTTCGTGAAGGATGT	0.398																																							uc001dab.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(490-492)GTG>TTG		InaD-like							149.0	153.0	152.0					1																	62235060		2203	4300	6503	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62235060G>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.490G>T	1.37:g.62235060G>T	ENSP00000360200:p.Val164Leu					INADL_uc009waf.1_Missense_Mutation_p.V164L|INADL_uc001daa.2_Missense_Mutation_p.V164L|INADL_uc001dad.3_5'Flank	p.V164L	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			5	604	+			164			PDZ 1.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.490G>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168968	0.57584	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.58358	0.34;0.34	5.5	5.5	0.81552	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000017	T	0.71962	0.3402	M	0.87758	2.905	0.80722	D	1	P;P;P	0.50943	0.94;0.876;0.899	P;P;P	0.58970	0.849;0.767;0.804	T	0.76743	-0.2847	10	0.72032	D	0.01	.	12.6942	0.56994	0.0756:0.0:0.9244:0.0	.	164;164;164	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	L	164	ENSP00000360200:V164L;ENSP00000326199:V164L	ENSP00000255202:V164L	V	+	1	0	INADL	62007648	1.000000	0.71417	0.998000	0.56505	0.309000	0.27889	5.536000	0.67180	2.565000	0.86533	0.591000	0.81541	GTG		0.398	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		63	87	1	0	1.38705e-31	0.01441	2.4609e-31	63	87				
SF3B4	10262	broad.mit.edu	37	1	149898433	149898433	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:149898433C>G	ENST00000271628.8	-	3	1125	c.541G>C	c.(541-543)Gac>Cac	p.D181H	MTMR11_ENST00000492824.1_5'Flank	NM_005850.4	NP_005841.1	Q15427	SF3B4_HUMAN	splicing factor 3b, subunit 4, 49kDa	181					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D181H(1)		endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CCCTTGGAGTCCTTCTTGAAG	0.522																																							uc001etj.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(541-543)GAC>CAC		splicing factor 3b, subunit 4							87.0	84.0	85.0					1																	149898433		2203	4300	6503	SO:0001583	missense	10262					nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr1:149898433C>G	L35013	CCDS72900.1	1q21.2	2013-02-12	2002-08-29		ENSG00000143368	ENSG00000143368		"""RNA binding motif (RRM) containing"""	10771	protein-coding gene	gene with protein product		605593	"""splicing factor 3b, subunit 4, 49kD"""			7958871	Standard	NM_005850		Approved	SAP49, SF3b49, Hsh49	uc001etk.2	Q15427	OTTHUMG00000012208	ENST00000271628.8:c.541G>C	1.37:g.149898433C>G	ENSP00000271628:p.Asp181His					SF3B4_uc001eti.1_5'Flank|SF3B4_uc001etk.1_Missense_Mutation_p.D181H|SF3B4_uc009wll.1_Missense_Mutation_p.D181H	p.D181H	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		3	592	-	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		181					Q5SZ63	Missense_Mutation	SNP	ENST00000271628.8	37	c.541G>C	CCDS941.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.444758	0.83993	.	.	ENSG00000143368	ENST00000271628;ENST00000457312	T;T	0.07114	3.22;3.22	4.42	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.22244	0.0536	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.971	T	0.01725	-1.1287	10	0.87932	D	0	.	16.5422	0.84395	0.0:1.0:0.0:0.0	.	181;181	Q53FG6;Q15427	.;SF3B4_HUMAN	H	181;138	ENSP00000271628:D181H;ENSP00000391114:D138H	ENSP00000271628:D181H	D	-	1	0	SF3B4	148165057	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.367000	0.79558	2.446000	0.82766	0.643000	0.83706	GAC		0.522	SF3B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033753.1	NM_005850		34	43	0	0	0	0.017118	0	34	43				
IL6R	3570	broad.mit.edu	37	1	154401899	154401899	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:154401899A>T	ENST00000368485.3	+	2	750	c.313A>T	c.(313-315)Act>Tct	p.T105S	IL6R_ENST00000344086.4_Missense_Mutation_p.T105S	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	105	Ig-like C2-type.				acute-phase response (GO:0006953)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|endocrine pancreas development (GO:0031018)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatic immune response (GO:0002384)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of interleukin-8 production (GO:0032717)|neutrophil mediated immunity (GO:0002446)|positive regulation of activation of Janus kinase activity (GO:0010536)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|response to cytokine (GO:0034097)	apical plasma membrane (GO:0016324)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)|plasma membrane (GO:0005886)	ciliary neurotrophic factor binding (GO:0070119)|cytokine receptor activity (GO:0004896)|enzyme binding (GO:0019899)|interleukin-6 binding (GO:0019981)|protein homodimerization activity (GO:0042803)	p.T105S(1)	IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)		Tocilizumab(DB06273)	CCCAGCTGGGACTGTGCACTT	0.587																																							uc001fez.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(1)	4						c.(313-315)ACT>TCT		interleukin 6 receptor isoform 1 precursor							42.0	47.0	45.0					1																	154401899		2203	4300	6503	SO:0001583	missense	3570				acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity	g.chr1:154401899A>T	X12830	CCDS1067.1, CCDS1068.1, CCDS72927.1	1q21	2013-01-11			ENSG00000160712	ENSG00000160712		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6019	protein-coding gene	gene with protein product		147880					Standard	NM_000565		Approved	CD126	uc001fez.2	P08887	OTTHUMG00000036073	ENST00000368485.3:c.313A>T	1.37:g.154401899A>T	ENSP00000357470:p.Thr105Ser					IL6R_uc001ffa.1_Missense_Mutation_p.T105S	p.T105S	NM_000565	NP_000556	P08887	IL6RA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	750	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		105			Extracellular (Potential).|Ig-like C2-type.		A8KAE8|B2R6V4|Q16202|Q53EQ7|Q5FWG2|Q5VZ23	Missense_Mutation	SNP	ENST00000368485.3	37	c.313A>T	CCDS1067.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373978	0.24857	.	.	ENSG00000160712	ENST00000368485;ENST00000344086;ENST00000512471	T;T;T	0.19105	2.42;2.17;2.37	5.05	1.3	0.21679	Immunoglobulin-like fold (1);	1.455340	0.04164	N	0.323639	T	0.03520	0.0101	N	0.25426	0.745	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.09377	0.004;0.002	T	0.32052	-0.9921	10	0.11182	T	0.66	-9.3676	3.8508	0.08954	0.5036:0.0:0.0949:0.4016	.	105;105	P08887-2;P08887	.;IL6RA_HUMAN	S	105	ENSP00000357470:T105S;ENSP00000340589:T105S;ENSP00000423184:T105S	ENSP00000340589:T105S	T	+	1	0	IL6R	152668523	0.000000	0.05858	0.000000	0.03702	0.158000	0.22134	0.050000	0.14120	0.039000	0.15632	-0.527000	0.04329	ACT		0.587	IL6R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087911.1	NM_000565		38	16	0	0	0	0.007835	0	38	16				
VHLL	391104	broad.mit.edu	37	1	156268923	156268923	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:156268923C>A	ENST00000339922.3	-	1	505	c.58G>T	c.(58-60)Gca>Tca	p.A20S		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	20								p.A20S(1)		endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					TCTGGGCCTGCCTCCTGGGTG	0.637																																							uc001fok.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(58-60)GCA>TCA		von Hippel-Lindau tumor suppressor-like							46.0	50.0	48.0					1																	156268923		2203	4300	6503	SO:0001583	missense	391104				protein ubiquitination	nucleus		g.chr1:156268923C>A			1q22	2013-09-24			ENSG00000189030	ENSG00000189030			30666	protein-coding gene	gene with protein product			"""VHL pseudogene"""	VHLP		14757845	Standard	NM_001004319		Approved	VLP	uc001fok.3	Q6RSH7	OTTHUMG00000024058	ENST00000339922.3:c.58G>T	1.37:g.156268923C>A	ENSP00000464258:p.Ala20Ser						p.A20S	NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN			1	506	-	Hepatocellular(266;0.158)		20					A1L4M4	Missense_Mutation	SNP	ENST00000339922.3	37	c.58G>T																																																																																					0.637	VHLL-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000060590.3	NM_001004319		27	78	1	0	2.2171e-23	0.009535	3.75202e-23	27	78				
TNN	63923	broad.mit.edu	37	1	175048765	175048765	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:175048765G>T	ENST00000239462.4	+	3	819	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	236	EGF-like 3.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)		p.D236Y(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTGTCCCGGCGACTGCAGCGG	0.667																																							uc001gkl.1		NA																	1	Substitution - Missense(1)		lung(1)	large_intestine(5)|ovary(3)|central_nervous_system(1)	9						c.(706-708)GAC>TAC		tenascin N precursor							20.0	15.0	17.0					1																	175048765		2185	4281	6466	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175048765G>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.706G>T	1.37:g.175048765G>T	ENSP00000239462:p.Asp236Tyr					TNN_uc010pmx.1_Missense_Mutation_p.D236Y	p.D236Y	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	3	819	+		Breast(1374;0.000962)	236			EGF-like 3.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.706G>T	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.838207	0.71373	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.03386	3.95	4.7	4.7	0.59300	EGF, extracellular (1);	0.102279	0.64402	D	0.000003	T	0.17831	0.0428	M	0.83312	2.635	0.41648	D	0.989119	D;D	0.89917	1.0;1.0	D;D	0.81914	0.987;0.995	T	0.00167	-1.1964	10	0.66056	D	0.02	.	11.1979	0.48724	0.0866:0.0:0.9134:0.0	.	236;236	B3KXB6;Q9UQP3	.;TENN_HUMAN	Y	236	ENSP00000239462:D236Y	ENSP00000239462:D236Y	D	+	1	0	TNN	173315388	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	2.583000	0.46094	2.321000	0.78463	0.491000	0.48974	GAC		0.667	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		13	6	1	0	4.3838e-07	0.016723	5.18514e-07	13	6				
RYR2	6262	broad.mit.edu	37	1	237777543	237777543	+	Silent	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:237777543G>T	ENST00000366574.2	+	37	5432	c.5115G>T	c.(5113-5115)ctG>ctT	p.L1705L	RYR2_ENST00000360064.6_Silent_p.L1703L|RYR2_ENST00000542537.1_Silent_p.L1689L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1705	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)	p.L1703L(1)		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)			ACTATGACCTGCTGATTGACA	0.537																																							uc001hyl.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(5113-5115)CTG>CTT		cardiac muscle ryanodine receptor							63.0	63.0	63.0					1																	237777543		2168	4272	6440	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.chr1:237777543G>T	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.5115G>T	1.37:g.237777543G>T							p.L1705L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5235	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1705			Cytoplasmic (By similarity).|4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Silent	SNP	ENST00000366574.2	37	c.5115G>T	CCDS55691.1																																																																																				0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		60	24	1	0	3.07184e-27	0.01441	5.36353e-27	60	24				
ABCC2	1244	broad.mit.edu	37	10	101560182	101560182	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:101560182G>A	ENST00000370449.4	+	9	1184	c.1071G>A	c.(1069-1071)ttG>ttA	p.L357L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	357	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)	p.L357L(1)		NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	ACACATATTTGTGGATTGGAT	0.453																																							uc001kqf.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1069-1071)TTG>TTA		ATP-binding cassette, sub-family C (CFTR/MRP),	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)						386.0	361.0	369.0					10																	101560182		2203	4300	6503	SO:0001819	synonymous_variant	1244					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr10:101560182G>A	U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1071G>A	10.37:g.101560182G>A							p.L357L	NM_000392	NP_000383	Q92887	MRP2_HUMAN		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	9	1210	+		Colorectal(252;0.234)	357			ABC transmembrane type-1 1.|Extracellular (By similarity).		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Silent	SNP	ENST00000370449.4	37	c.1071G>A	CCDS7484.1																																																																																				0.453	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049825.1	NM_000392		161	221	0	0	0	0.01441	0	161	221				
GRK5	2869	broad.mit.edu	37	10	121196346	121196346	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:121196346G>A	ENST00000392870.2	+	9	1251	c.922G>A	c.(922-924)Gtc>Atc	p.V308I	GRK5_ENST00000369108.3_Missense_Mutation_p.V203I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)	p.V308I(2)		endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TGAGAACACCGTCTACCGGTG	0.607																																							uc001led.2		NA																	2	Substitution - Missense(2)		lung(1)|endometrium(1)	lung(2)|stomach(1)	3						c.(922-924)GTC>ATC		G protein-coupled receptor kinase 5							64.0	54.0	58.0					10																	121196346		2203	4300	6503	SO:0001583	missense	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121196346G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.922G>A	10.37:g.121196346G>A	ENSP00000376609:p.Val308Ile					GRK5_uc009xzh.2_Missense_Mutation_p.V203I|GRK5_uc010qta.1_Missense_Mutation_p.V203I	p.V308I	NM_005308	NP_005299	P34947	GRK5_HUMAN		all cancers(201;0.0227)	9	1155	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	308			Protein kinase.		D3DRD0|Q5T059	Missense_Mutation	SNP	ENST00000392870.2	37	c.922G>A	CCDS7612.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.992533	0.54041	.	.	ENSG00000198873	ENST00000392870;ENST00000369108	T;T	0.22336	1.96;1.96	5.43	4.53	0.55603	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.111882	0.37809	N	0.001929	T	0.12689	0.0308	N	0.10916	0.065	0.58432	D	0.999995	B;B	0.15141	0.012;0.012	B;B	0.12156	0.004;0.007	T	0.06215	-1.0839	10	0.34782	T	0.22	-1.3268	14.1904	0.65635	0.0721:0.0:0.9279:0.0	.	308;308	B2R7K0;P34947	.;GRK5_HUMAN	I	308;203	ENSP00000376609:V308I;ENSP00000358104:V203I	ENSP00000358104:V203I	V	+	1	0	GRK5	121186336	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	6.600000	0.74132	1.295000	0.44724	0.563000	0.77884	GTC		0.607	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		10	9	0	0	0	0.006214	0	10	9				
MKI67	4288	broad.mit.edu	37	10	129903806	129903806	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:129903806T>C	ENST00000368654.3	-	13	6673	c.6298A>G	c.(6298-6300)Aaa>Gaa	p.K2100E	MKI67_ENST00000368653.3_Missense_Mutation_p.K1740E	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2100	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)	p.K2100E(1)		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)				CAGGCTATTTTGGTAGTTTTG	0.483																																							uc001lke.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6298-6300)AAA>GAA		antigen identified by monoclonal antibody Ki-67							318.0	311.0	313.0					10																	129903806		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903806T>C	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.6298A>G	10.37:g.129903806T>C	ENSP00000357643:p.Lys2100Glu					MKI67_uc001lkf.2_Missense_Mutation_p.K1740E|MKI67_uc009yav.1_Missense_Mutation_p.K1675E|MKI67_uc009yaw.1_Missense_Mutation_p.K1250E	p.K2100E	NM_002417	NP_002408	P46013	KI67_HUMAN			13	6493	-		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)	2100			16 X 122 AA approximate repeats.|10.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.6298A>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.758715	0.31137	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03413	3.94;3.94	4.43	-4.07	0.03975	.	1.841180	0.02901	N	0.135441	T	0.04952	0.0133	M	0.67397	2.05	0.09310	N	1	B;B;B	0.22211	0.053;0.053;0.066	B;B;B	0.24394	0.031;0.031;0.053	T	0.46386	-0.9195	10	0.09338	T	0.73	.	6.5671	0.22519	0.0:0.4686:0.1575:0.3739	.	2099;1740;2100	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	E	2100;1740;2099	ENSP00000357643:K2100E;ENSP00000357642:K1740E	ENSP00000357642:K1740E	K	-	1	0	MKI67	129793796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.466000	0.02355	-0.917000	0.03813	0.533000	0.62120	AAA		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		161	224	0	0	0	0.01441	0	161	224				
MKI67	4288	broad.mit.edu	37	10	129905293	129905293	+	Nonsense_Mutation	SNP	G	G	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr10:129905293G>C	ENST00000368654.3	-	13	5186	c.4811C>G	c.(4810-4812)tCa>tGa	p.S1604*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.S1244*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1604	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)	p.S1604*(1)		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)				GTTAGTCATTGATTCCTCAGT	0.498																																							uc001lke.2		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4810-4812)TCA>TGA		antigen identified by monoclonal antibody Ki-67							191.0	185.0	187.0					10																	129905293		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905293G>C	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.4811C>G	10.37:g.129905293G>C	ENSP00000357643:p.Ser1604*					MKI67_uc001lkf.2_Nonsense_Mutation_p.S1244*|MKI67_uc009yav.1_Nonsense_Mutation_p.S1179*|MKI67_uc009yaw.1_Nonsense_Mutation_p.S754*	p.S1604*	NM_002417	NP_002408	P46013	KI67_HUMAN			13	5006	-		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)	1604			16 X 122 AA approximate repeats.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.4811C>G	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	44	11.155093	0.99523	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.07	1.15	0.20763	.	0.620287	0.14126	N	0.339730	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	6.0458	0.19760	0.1046:0.0:0.7094:0.186	.	.	.	.	X	1604;1244;1603	.	ENSP00000357642:S1244X	S	-	2	0	MKI67	129795283	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.780000	0.26760	0.336000	0.23639	0.563000	0.77884	TCA		0.498	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		79	119	0	0	0	0.01441	0	79	119				
ARHGAP32	9743	broad.mit.edu	37	11	128838914	128838914	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr11:128838914G>A	ENST00000310343.9	-	22	6151	c.6152C>T	c.(6151-6153)cCt>cTt	p.P2051L	ARHGAP32_ENST00000527272.1_Missense_Mutation_p.P1702L|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.P1702L|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2051	Interaction with FYN.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)	p.P2051L(1)|p.P1702L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGAAAGCCAGGGGGCACATA	0.577																																							uc009zcp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(3)|ovary(2)	5						c.(6151-6153)CCT>CTT		Rho GTPase-activating protein isoform 1							45.0	39.0	41.0					11																	128838914		2201	4296	6497	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128838914G>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.6152C>T	11.37:g.128838914G>A	ENSP00000310561:p.Pro2051Leu					ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Missense_Mutation_p.P1010L|ARHGAP32_uc001qez.2_Missense_Mutation_p.P1702L	p.P2051L	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			22	6152	-			2051			Interaction with FYN.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.6152C>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284885	0.23392	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	T;T;T	0.13538	2.61;2.58;2.58	5.56	4.65	0.58169	.	0.761269	0.12574	N	0.457015	T	0.12689	0.0308	L	0.38175	1.15	0.40567	D	0.98126	B	0.06786	0.001	B	0.08055	0.003	T	0.04386	-1.0955	10	0.87932	D	0	.	9.3923	0.38381	0.0722:0.0:0.785:0.1427	.	2051	A7KAX9	RHG32_HUMAN	L	2051;1702;1702	ENSP00000310561:P2051L;ENSP00000376425:P1702L;ENSP00000432862:P1702L	ENSP00000310561:P2051L	P	-	2	0	ARHGAP32	128344124	1.000000	0.71417	0.063000	0.19743	0.199000	0.23934	7.420000	0.80191	1.365000	0.46057	0.650000	0.86243	CCT		0.577	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715		6	4	0	0	0	0.001984	0	6	4				
KCNA5	3741	broad.mit.edu	37	12	5154154	5154155	+	Nonsense_Mutation	DNP	CT	CT	TA			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	CT	CT	-	-	CT	CT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:5154154_5154155CT>TA	ENST00000252321.3	+	1	1070_1071	c.841_842CT>TA	c.(841-843)CTg>TAg	p.L281*		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	281					atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)	p.L281M(1)|p.L281*(1)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TGAACGTGAGCTGCTCCGCCAC	0.693																																							uc001qni.2		NA																	2	Substitution - Missense(1)|Substitution - Nonsense(1)		lung(2)	ovary(2)|breast(2)	4						c.(841-843)CTG>TAG		potassium voltage-gated channel, shaker-related																																				SO:0001587	stop_gained	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5154154_5154155CT>TA	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		Exception_encountered	12.37:g.5154154_5154155delinsTA	ENSP00000252321:p.Leu281*						p.L281*	NM_002234	NP_002225	P22460	KCNA5_HUMAN			1	1070_1071	+			281					Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Nonsense_Mutation	DNP	ENST00000252321.3	37	c.841_842CT>TA	CCDS8536.1																																																																																				0.693	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		17	44	0	0	0	0.004672	0	17	44				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	uc001rgp.1	G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			pancreatic|colorectal|lung|thyroid|AML|others		5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1)	21052	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)GGT>TGT		c-K-ras2 protein isoform a precursor							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Cardiofaciocutaneous_syndrome|Noonan_syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA	p.G12C	NM_033360	NP_203524	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	215	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).	GTP.		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		15	14	1	0	0.00400662	0.028581	0.00419742	15	14				
IPO8	10526	broad.mit.edu	37	12	30814173	30814173	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:30814173T>A	ENST00000256079.4	-	16	2121	c.1783A>T	c.(1783-1785)Agt>Tgt	p.S595C	IPO8_ENST00000544829.1_Missense_Mutation_p.S390C	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	595					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.S595C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TATTCATCACTTTGAAGAACT	0.328																																							uc001rjd.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(1783-1785)AGT>TGT		importin 8							110.0	105.0	106.0					12																	30814173		2201	4300	6501	SO:0001583	missense	10526				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	g.chr12:30814173T>A	U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.1783A>T	12.37:g.30814173T>A	ENSP00000256079:p.Ser595Cys					IPO8_uc001rje.1_Missense_Mutation_p.S84C|IPO8_uc010sjt.1_Missense_Mutation_p.S390C	p.S595C	NM_006390	NP_006381	O15397	IPO8_HUMAN			16	1953	-	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		595					B7Z7M3	Missense_Mutation	SNP	ENST00000256079.4	37	c.1783A>T	CCDS8719.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.343334	0.82022	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.69306	-0.39;-0.39	4.42	4.42	0.53409	Armadillo-like helical (1);Armadillo-type fold (1);	0.042986	0.85682	D	0.000000	T	0.79759	0.4501	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.74348	0.981;0.983;0.928	T	0.82643	-0.0356	10	0.87932	D	0	-11.8667	13.9505	0.64113	0.0:0.0:0.0:1.0	.	390;71;595	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	C	595;71;390	ENSP00000256079:S595C;ENSP00000444520:S390C	ENSP00000256079:S595C	S	-	1	0	IPO8	30705440	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.424000	0.80242	1.748000	0.51833	0.402000	0.26972	AGT		0.328	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402700.2	NM_006390		28	28	0	0	0	0.027356	0	28	28				
CEP83	51134	broad.mit.edu	37	12	94772782	94772782	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr12:94772782T>C	ENST00000397809.5	-	7	1135	c.586A>G	c.(586-588)Aac>Gac	p.N196D	CCDC41_ENST00000339839.5_Missense_Mutation_p.N196D|CCDC41_ENST00000397807.2_Missense_Mutation_p.N163D|CCDC41_ENST00000549352.1_5'UTR|CCDC41_ENST00000547575.1_Missense_Mutation_p.N196D	NM_016122.2	NP_057206.2	Q9Y592	CEP83_HUMAN		188					cilium assembly (GO:0042384)|protein localization to centrosome (GO:0071539)|vesicle docking (GO:0048278)	centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|Golgi apparatus (GO:0005794)		p.N196D(1)		breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						AGCAGCTGGTTACGTAGTTCT	0.328																																							uc001tdd.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(586-588)AAC>GAC		NY-REN-58 antigen							92.0	84.0	86.0					12																	94772782		1830	4085	5915	SO:0001583	missense	51134							g.chr12:94772782T>C																												ENST00000397809.5:c.586A>G	12.37:g.94772782T>C	ENSP00000380911:p.Asn196Asp					CCDC41_uc001tde.2_Missense_Mutation_p.N196D|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.N196D	p.N196D	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN			7	1172	-			188			Potential.		A4FVB1|Q08AP1	Missense_Mutation	SNP	ENST00000397809.5	37	c.586A>G	CCDS41820.1	.	.	.	.	.	.	.	.	.	.	T	1.034	-0.680867	0.03353	.	.	ENSG00000173588	ENST00000339839;ENST00000397809;ENST00000397807;ENST00000547575	T;T;T;T	0.62941	0.93;0.93;0.92;-0.01	5.59	4.43	0.53597	.	.	.	.	.	T	0.48187	0.1486	L	0.41710	1.295	0.20975	N	0.999818	B;B;B	0.11235	0.004;0.002;0.001	B;B;B	0.15484	0.013;0.004;0.009	T	0.35051	-0.9804	9	0.12430	T	0.62	0.0097	7.3357	0.26609	0.0:0.0723:0.1463:0.7814	.	196;163;188	F8VYN8;Q9Y592-2;Q9Y592	.;.;CCD41_HUMAN	D	196;196;163;196	ENSP00000344655:N196D;ENSP00000380911:N196D;ENSP00000380909:N163D;ENSP00000448913:N196D	ENSP00000344655:N196D	N	-	1	0	CCDC41	93296913	1.000000	0.71417	0.015000	0.15790	0.163000	0.22366	1.391000	0.34475	0.934000	0.37316	-0.438000	0.05819	AAC		0.328	CCDC41-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408147.3			55	28	0	0	0	0.01441	0	55	28				
SOHLH2	54937	broad.mit.edu	37	13	36788621	36788621	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr13:36788621C>T	ENST00000379881.3	-	1	131	c.43G>A	c.(43-45)Ggc>Agc	p.G15S	SOHLH2_ENST00000317764.6_Missense_Mutation_p.G15S|SOHLH2_ENST00000554962.1_Intron|CCDC169-SOHLH2_ENST00000511166.1_Intron	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	15					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G15S(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CTTACCTGGCCCGAGATCTGG	0.672																																							uc001uvj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(43-45)GGC>AGC		spermatogenesis and oogenesis specific basic							46.0	42.0	43.0					13																	36788621		2203	4300	6503	SO:0001583	missense	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36788621C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.43G>A	13.37:g.36788621C>T	ENSP00000369210:p.Gly15Ser					SOHLH2_uc010tei.1_Intron	p.G15S	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	1	132	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	15					B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.43G>A	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.187840	0.78789	.	.	ENSG00000120669	ENST00000379881;ENST00000317764	T;T	0.43294	1.55;0.95	3.22	3.22	0.36961	.	0.605990	0.13718	N	0.367585	T	0.20536	0.0494	N	0.19112	0.55	0.37246	D	0.906359	P	0.37781	0.608	B	0.24541	0.054	T	0.11891	-1.0569	10	0.14656	T	0.56	.	10.0665	0.42306	0.0:1.0:0.0:0.0	.	15	Q9NX45	SOLH2_HUMAN	S	15	ENSP00000369210:G15S;ENSP00000326838:G15S	ENSP00000326838:G15S	G	-	1	0	SOHLH2	35686621	0.003000	0.15002	0.098000	0.21074	0.789000	0.44602	0.607000	0.24209	1.785000	0.52413	0.561000	0.74099	GGC		0.672	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		4	6	0	0	0	0.009096	0	4	6				
TFDP1	7027	broad.mit.edu	37	13	114290924	114290925	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr13:114290924_114290925GG>TT	ENST00000375370.5	+	10	1127_1128	c.915_916GG>TT	c.(913-918)atGGct>atTTct	p.305_306MA>IS	TFDP1_ENST00000538138.1_Missense_Mutation_p.210_211MA>IS|TFDP1_ENST00000544902.1_Missense_Mutation_p.210_211MA>IS	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	305	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.M305_A306>IS(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GGATGGGCATGGCTTGCGGGCT	0.505										TSP Lung(29;0.18)																													uc001vtw.2		NA																	1	Complex - compound substitution(1)		lung(1)	lung(4)|ovary(2)|skin(1)	7						c.(913-918)ATGGCT>ATTTCT		transcription factor Dp-1																																				SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290924_114290925GG>TT	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	Exception_encountered	13.37:g.114290924_114290925delinsTT	ENSP00000364519:p.M305_A306delinsIS	TSP Lung(29;0.18)				TFDP1_uc010tkd.1_Missense_Mutation_p.210_211MA>IS|TFDP1_uc010tke.1_Missense_Mutation_p.210_211MA>IS|TFDP1_uc001vty.3_Missense_Mutation_p.305_306MA>IS|TFDP1_uc001vtx.2_Missense_Mutation_p.185_186MA>IS	p.305_306MA>IS	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1127_1128	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	305_306			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	DNP	ENST00000375370.5	37	c.915_916GG>TT	CCDS9538.1																																																																																				0.505	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		27	43	0	0	0	0.004672	0	27	43				
OR4M2	390538	broad.mit.edu	37	15	22368728	22368728	+	Silent	SNP	A	A	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:22368728A>G	ENST00000332663.2	+	1	251	c.153A>G	c.(151-153)ctA>ctG	p.L51L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	51						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L51L(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CCATCAGTCTAGACCCTCATC	0.418																																							uc010tzu.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(151-153)CTA>CTG		olfactory receptor, family 4, subfamily M,							511.0	442.0	466.0					15																	22368728		2203	4300	6503	SO:0001819	synonymous_variant	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368728A>G	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.153A>G	15.37:g.22368728A>G						LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	p.L51L	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	153	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	51			Cytoplasmic (Potential).		B9EH16|Q6IEY2	Silent	SNP	ENST00000332663.2	37	c.153A>G	CCDS32172.1																																																																																				0.418	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			97	814	0	0	0	0.01441	0	97	814				
EIF2AK4	440275	broad.mit.edu	37	15	40284993	40284993	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:40284993A>T	ENST00000263791.5	+	18	2753	c.2710A>T	c.(2710-2712)Act>Tct	p.T904S	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.T876S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	904	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)	p.T904S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GATGGTTGGCACTGCTCTCTA	0.418																																							uc001zkm.1		NA																	1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|skin(1)	4						c.(2710-2712)ACT>TCT		eukaryotic translation initiation factor 2 alpha							124.0	115.0	118.0					15																	40284993		1907	4125	6032	SO:0001583	missense	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40284993A>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.2710A>T	15.37:g.40284993A>T	ENSP00000263791:p.Thr904Ser					EIF2AK4_uc010bbj.1_Missense_Mutation_p.T605S|EIF2AK4_uc001zkn.1_Missense_Mutation_p.T4S	p.T904S	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	18	2760	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	904			Protein kinase 2.		C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	37	c.2710A>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	34	5.317345	0.95682	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.39406	1.08;1.08	6.07	6.07	0.98685	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65788	-0.6083	10	0.87932	D	0	-20.6703	16.6406	0.85098	1.0:0.0:0.0:0.0	.	904	Q9P2K8	E2AK4_HUMAN	S	904;876	ENSP00000263791:T904S;ENSP00000372174:T876S	ENSP00000263791:T904S	T	+	1	0	EIF2AK4	38072285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.050000	0.93843	2.326000	0.78906	0.533000	0.62120	ACT		0.418	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1			37	50	0	0	0	0.00874	0	37	50				
ADAM10	102	broad.mit.edu	37	15	58889786	58889786	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:58889786C>A	ENST00000260408.3	-	16	2650	c.2207G>T	c.(2206-2208)cGg>cTg	p.R736L	snoU13_ENST00000458913.1_RNA|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.R435L	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	736					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|collagen catabolic process (GO:0030574)|constitutive protein ectodomain proteolysis (GO:0051089)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|negative regulation of cell adhesion (GO:0007162)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell chemotaxis (GO:0010820)|protein phosphorylation (GO:0006468)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi-associated vesicle (GO:0005798)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|tetraspanin-enriched microdomain (GO:0097197)	endopeptidase activity (GO:0004175)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)	p.R736L(1)		breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CTCTCGGGGCCGCTGACGCTG	0.478																																							uc002afd.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(2206-2208)CGG>CTG		ADAM metallopeptidase domain 10 precursor							111.0	104.0	106.0					15																	58889786		2192	4292	6484	SO:0001583	missense	102				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding	g.chr15:58889786C>A	AF009615	CCDS10167.1	15q2	2006-09-25	2005-08-18		ENSG00000137845	ENSG00000137845		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	188	protein-coding gene	gene with protein product		602192	"""a disintegrin and metalloproteinase domain 10"""			9344679, 9441766	Standard	XM_005254117		Approved	kuz, MADM, HsT18717, CD156c	uc002afd.1	O14672	OTTHUMG00000132633	ENST00000260408.3:c.2207G>T	15.37:g.58889786C>A	ENSP00000260408:p.Arg736Leu					ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.R435L|ADAM10_uc002afe.1_Intron	p.R736L	NM_001110	NP_001101	O14672	ADA10_HUMAN		GBM - Glioblastoma multiforme(80;0.202)	16	2651	-			736			Cytoplasmic (Potential).		B4DU28|Q10742|Q92650	Missense_Mutation	SNP	ENST00000260408.3	37	c.2207G>T	CCDS10167.1	.	.	.	.	.	.	.	.	.	.	C	18.10	3.548816	0.65311	.	.	ENSG00000137845	ENST00000260408;ENST00000396136;ENST00000396140	T;T	0.26373	1.74;3.05	5.21	4.28	0.50868	.	0.051945	0.85682	D	0.000000	T	0.26882	0.0658	L	0.56769	1.78	0.80722	D	1	B;B	0.20261	0.043;0.012	B;B	0.15052	0.012;0.012	T	0.05241	-1.0897	10	0.22706	T	0.39	-9.752	15.8655	0.79060	0.0:0.8641:0.1359:0.0	.	435;736	B4DU28;O14672	.;ADA10_HUMAN	L	736;555;435	ENSP00000260408:R736L;ENSP00000379444:R435L	ENSP00000260408:R736L	R	-	2	0	ADAM10	56677078	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.361000	0.52306	1.408000	0.46895	0.557000	0.71058	CGG		0.478	ADAM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255880.2	NM_001110		21	35	1	0	3.28513e-13	0.021523	4.46128e-13	21	35				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																							uc010umm.1		NA																	2	Substitution - Missense(2)		endometrium(2)		NA						c.(532-534)TCG>TTG		SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																																						0							g.chr15:76074431C>T																													15.37:g.76074431C>T						uc002bba.1_5'Flank	p.S178L							8	610	+									Missense_Mutation	SNP	ENST00000395215.3	37	c.533C>T		.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	26	0	0	0	0.021553	0	3	26				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																							uc002cdi.2		NA																	10	Substitution - Missense(10)		kidney(7)|prostate(2)|endometrium(1)		0						c.(523-525)GGC>AGC		RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;																																						374666							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A						WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	p.G175S	NR_003659						9	1943	+									Missense_Mutation	SNP	ENST00000557932.1	37	c.523G>A		.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	11	0	0	0	0.009096	0	3	11				
ADCY9	115	broad.mit.edu	37	16	4057495	4057495	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr16:4057495G>A	ENST00000294016.3	-	3	2296	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	586					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.A586A(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGAAAGCAAGGCCTCTGCAC	0.527																																							uc002cvx.2		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1756-1758)GCC>GCT		adenylate cyclase 9							117.0	101.0	107.0					16																	4057495		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4057495G>A	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.1758C>T	16.37:g.4057495G>A							p.A586A	NM_001116	NP_001107	O60503	ADCY9_HUMAN			3	2297	-			586			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.1758C>T	CCDS32382.1																																																																																				0.527	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			32	41	0	0	0	0.010818	0	32	41				
ZNF276	92822	broad.mit.edu	37	16	89795695	89795695	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr16:89795695G>T	ENST00000443381.2	+	6	1235	c.1138G>T	c.(1138-1140)Gac>Tac	p.D380Y	ZNF276_ENST00000568064.1_Missense_Mutation_p.D288Y|ZNF276_ENST00000446326.2_Missense_Mutation_p.D166Y|ZNF276_ENST00000289816.5_Missense_Mutation_p.D305Y	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.D305Y(1)|p.D380Y(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CCAGTCTTCGGACGAGTCCTT	0.547																																							uc002fos.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(1138-1140)GAC>TAC		zinc finger protein 276 isoform a							90.0	92.0	91.0					16																	89795695		2198	4300	6498	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89795695G>T	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.1138G>T	16.37:g.89795695G>T	ENSP00000415836:p.Asp380Tyr					ZNF276_uc010ciq.2_Missense_Mutation_p.D166Y|ZNF276_uc002fop.2_Missense_Mutation_p.D288Y|ZNF276_uc002foq.3_Missense_Mutation_p.D305Y|ZNF276_uc010cir.2_RNA|ZNF276_uc002for.3_Missense_Mutation_p.D166Y|ZNF276_uc010cis.2_Missense_Mutation_p.D139Y|ZNF276_uc002fot.3_RNA|ZNF276_uc010vpm.1_Missense_Mutation_p.D218Y|ZNF276_uc010cit.1_Missense_Mutation_p.D139Y	p.D380Y	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	6	1235	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	380					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.1138G>T	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.129463	0.56721	.	.	ENSG00000158805	ENST00000446326;ENST00000289816;ENST00000443381	T;T;T	0.07800	3.28;3.16;3.2	5.12	5.12	0.69794	.	0.053908	0.64402	D	0.000001	T	0.21062	0.0507	L	0.32530	0.975	0.58432	D	0.999991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.998;0.997;0.999	T	0.00847	-1.1542	10	0.87932	D	0	-22.1973	17.9025	0.88909	0.0:0.0:1.0:0.0	.	218;380;166;305	B4DIT3;Q8N554;A8K186;Q8N554-2	.;ZN276_HUMAN;.;.	Y	166;305;380	ENSP00000415999:D166Y;ENSP00000289816:D305Y;ENSP00000415836:D380Y	ENSP00000289816:D305Y	D	+	1	0	ZNF276	88323196	1.000000	0.71417	0.138000	0.22173	0.419000	0.31324	6.702000	0.74628	2.550000	0.86006	0.561000	0.74099	GAC		0.547	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		37	40	1	0	5.04308e-16	0.025465	7.49647e-16	37	40				
SREBF1	6720	broad.mit.edu	37	17	17720399	17720399	+	Missense_Mutation	SNP	T	T	C	rs377727800		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr17:17720399T>C	ENST00000261646.5	-	9	1842	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	SREBF1_ENST00000355815.4_Missense_Mutation_p.N583S|SREBF1_ENST00000338854.5_Missense_Mutation_p.N553S|SREBF1_ENST00000395757.1_Missense_Mutation_p.N299S|SREBF1_ENST00000583732.1_5'Flank	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	553					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)	p.N583S(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CAACAGCCCATTGAGCAGCCA	0.627																																							uc002gru.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1657-1659)AAT>AGT		sterol regulatory element binding transcription		T	SER/ASN,SER/ASN	0,4406		0,0,2203	40.0	54.0	49.0		1748,1658	4.2	0.0	17		49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SREBF1	NM_001005291.2,NM_004176.4	46,46	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging	583/1178,553/1148	17720399	1,13005	2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17720399T>C	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.1658A>G	17.37:g.17720399T>C	ENSP00000261646:p.Asn553Ser					SREBF1_uc002grp.1_Missense_Mutation_p.N172S|SREBF1_uc002grq.1_Missense_Mutation_p.N72S|SREBF1_uc002grr.1_Missense_Mutation_p.N299S|SREBF1_uc002grs.1_Missense_Mutation_p.N529S|SREBF1_uc002grt.1_Missense_Mutation_p.N583S	p.N553S	NM_004176	NP_004167	P36956	SRBP1_HUMAN			9	1852	-			553			Helical; (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.1658A>G	CCDS11189.1	.	.	.	.	.	.	.	.	.	.	T	19.78	3.891651	0.72524	0.0	1.16E-4	ENSG00000072310	ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161	T;T;T;T	0.64438	-0.1;-0.0;-0.02;0.53	5.32	4.22	0.49857	.	0.108522	0.64402	D	0.000012	T	0.75273	0.3827	M	0.69185	2.1	0.80722	D	1	D;D;D	0.89917	0.998;1.0;0.966	D;D;P	0.87578	0.99;0.998;0.77	T	0.75263	-0.3379	10	0.54805	T	0.06	-8.786	11.4162	0.49954	0.0:0.0:0.1518:0.8482	.	553;583;172	P36956;P36956-4;A8MTU8	SRBP1_HUMAN;.;.	S	553;583;553;299;172;390;479	ENSP00000345822:N553S;ENSP00000348069:N583S;ENSP00000261646:N553S;ENSP00000379106:N299S	ENSP00000261646:N553S	N	-	2	0	SREBF1	17661124	1.000000	0.71417	0.044000	0.18714	0.978000	0.69477	5.017000	0.64047	0.841000	0.35020	0.459000	0.35465	AAT		0.627	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		37	37	0	0	0	0.010771	0	37	37				
CBX2	84733	broad.mit.edu	37	17	77758474	77758474	+	Missense_Mutation	SNP	G	G	T	rs187278438		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr17:77758474G>T	ENST00000310942.4	+	5	1336	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	411					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.S411I(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			ACAAGCAAAAGTGAGAAGCTG	0.662																																							uc002jxc.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1231-1233)AGT>ATT		chromobox homolog 2 isoform 1							17.0	20.0	19.0					17																	77758474		2200	4299	6499	SO:0001583	missense	84733				cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding	g.chr17:77758474G>T	BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.1232G>T	17.37:g.77758474G>T	ENSP00000308750:p.Ser411Ile						p.S411I	NM_005189	NP_005180	Q14781	CBX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1274	+			411					Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	c.1232G>T	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	G	10.11	1.260500	0.23051	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.17	4.2	0.49525	.	28.856500	0.00166	N	0.000000	T	0.34919	0.0914	N	0.19112	0.55	0.18873	N	0.999982	B	0.11235	0.004	B	0.06405	0.002	T	0.24476	-1.0159	9	0.56958	D	0.05	-0.4418	9.9151	0.41430	0.1534:0.0:0.8466:0.0	.	411	Q14781	CBX2_HUMAN	I	411	.	ENSP00000308750:S411I	S	+	2	0	CBX2	75373069	0.086000	0.21541	0.113000	0.21522	0.724000	0.41520	1.435000	0.34969	1.413000	0.46997	0.650000	0.86243	AGT		0.662	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647		6	18	1	0	3.59834e-05	0.021553	3.95817e-05	6	18				
L3MBTL4	91133	broad.mit.edu	37	18	6241361	6241361	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:6241361C>G	ENST00000284898.6	-	8	748	c.548G>C	c.(547-549)aGt>aCt	p.S183T	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.S183T|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.S183T|L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.S183T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	183					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.S183T(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				ACTTACAGGACTTCTGTTTCT	0.289																																					Esophageal Squamous(41;748 902 17366 28959 43175)	Esophageal Squamous(41;748 902 17366 28959 43175)	uc002kmz.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|pancreas(1)	3						c.(547-549)AGT>ACT		l(3)mbt-like 4							86.0	101.0	96.0					18																	6241361		2202	4298	6500	SO:0001583	missense	91133				chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:6241361C>G	BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.548G>C	18.37:g.6241361C>G	ENSP00000284898:p.Ser183Thr					L3MBTL4_uc010dkt.2_Missense_Mutation_p.S183T|L3MBTL4_uc002kmy.3_Missense_Mutation_p.S21T	p.S183T	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN			8	708	-		Colorectal(10;0.0249)	183			MBT 2.		A8MTL8|Q8IXS3	Missense_Mutation	SNP	ENST00000284898.6	37	c.548G>C	CCDS11839.2	.	.	.	.	.	.	.	.	.	.	C	7.467	0.645830	0.14451	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000400104	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.92	-0.235	0.13071	.	1.022380	0.07796	N	0.955723	T	0.31918	0.0812	L	0.50333	1.59	0.58432	D	0.999995	B;B	0.11235	0.002;0.004	B;B	0.12156	0.001;0.007	T	0.19063	-1.0317	10	0.18276	T	0.48	.	4.565	0.12180	0.1439:0.4357:0.0:0.4204	.	183;183	Q8NA19;F8W9S8	LMBL4_HUMAN;.	T	183	ENSP00000382976:S183T;ENSP00000318543:S183T;ENSP00000284898:S183T;ENSP00000382975:S183T	ENSP00000284898:S183T	S	-	2	0	L3MBTL4	6231361	0.232000	0.23762	0.983000	0.44433	0.610000	0.37248	0.008000	0.13197	-0.090000	0.12462	-0.396000	0.06452	AGT		0.289	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254448.2	NM_173464		73	128	0	0	0	0.01441	0	73	128				
DSG3	1830	broad.mit.edu	37	18	29054174	29054174	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:29054174C>A	ENST00000257189.4	+	15	2275	c.2192C>A	c.(2191-2193)tCt>tAt	p.S731Y		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	731					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S731Y(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCACTGAATCTGGAGGTGCT	0.517																																							uc002kws.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|lung(1)|central_nervous_system(1)	9						c.(2191-2193)TCT>TAT		desmoglein 3 preproprotein							96.0	82.0	87.0					18																	29054174		2203	4300	6503	SO:0001583	missense	1830				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	g.chr18:29054174C>A	M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.2192C>A	18.37:g.29054174C>A	ENSP00000257189:p.Ser731Tyr					DSG3_uc002kwt.2_Missense_Mutation_p.S13Y	p.S731Y	NM_001944	NP_001935	P32926	DSG3_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		15	2301	+			731			Cytoplasmic (Potential).		A8K2V2	Missense_Mutation	SNP	ENST00000257189.4	37	c.2192C>A	CCDS11898.1	.	.	.	.	.	.	.	.	.	.	C	9.927	1.213867	0.22289	.	.	ENSG00000134757	ENST00000257189	T	0.54675	0.56	5.31	5.31	0.75309	.	0.358768	0.20583	N	0.089485	T	0.50888	0.1642	L	0.56769	1.78	0.09310	N	1	P	0.50819	0.939	P	0.49421	0.61	T	0.50013	-0.8877	10	0.02654	T	1	.	11.6271	0.51151	0.2238:0.7762:0.0:0.0	.	731	P32926	DSG3_HUMAN	Y	731	ENSP00000257189:S731Y	ENSP00000257189:S731Y	S	+	2	0	DSG3	27308172	0.552000	0.26505	0.067000	0.19924	0.002000	0.02628	2.254000	0.43214	2.743000	0.94032	0.650000	0.86243	TCT		0.517	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254949.1	NM_001944		20	37	1	0	5.45024e-15	0.01892	7.99369e-15	20	37				
B4GALT6	9331	broad.mit.edu	37	18	29206995	29206995	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:29206995C>A	ENST00000306851.5	-	7	1162	c.866G>T	c.(865-867)gGa>gTa	p.G289V	B4GALT6_ENST00000383131.3_Missense_Mutation_p.G250V|B4GALT6_ENST00000237019.7_Missense_Mutation_p.G250V	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	289					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.G289V(1)|p.G289E(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TCCTCCCCATCCCCAGAAGGC	0.338																																							uc002kwz.3		NA																	2	Substitution - Missense(2)		lung(2)		0						c.(865-867)GGA>GTA		beta-1,4-galactosyltransferase 6							83.0	81.0	82.0					18																	29206995		2203	4300	6503	SO:0001583	missense	9331				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	g.chr18:29206995C>A	AF038664	CCDS11900.1	18q11	2013-02-19			ENSG00000118276	ENSG00000118276		"""Beta 4-glycosyltransferases"""	929	protein-coding gene	gene with protein product	"""UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase"""	604017				9597550, 12180132	Standard	NM_004775		Approved	beta4GalT-VI	uc002kwz.4	Q9UBX8	OTTHUMG00000131980	ENST00000306851.5:c.866G>T	18.37:g.29206995C>A	ENSP00000306459:p.Gly289Val					B4GALT6_uc010dma.2_Missense_Mutation_p.G250V|B4GALT6_uc010dmb.2_Missense_Mutation_p.G250V|B4GALT6_uc002kwy.3_5'Flank	p.G289V	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00791)		7	1163	-			289			Lumenal (Potential).		O60514|Q6NT09	Missense_Mutation	SNP	ENST00000306851.5	37	c.866G>T	CCDS11900.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878635	0.91740	.	.	ENSG00000118276	ENST00000306851;ENST00000237019;ENST00000383131	D;D;D	0.88277	-2.36;-2.36;-2.36	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	H	0.96518	3.835	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.97409	1.0001	10	0.87932	D	0	-8.8663	19.9238	0.97097	0.0:1.0:0.0:0.0	.	250;250;289	Q6NT09;G3XA83;Q9UBX8	.;.;B4GT6_HUMAN	V	289;250;250	ENSP00000306459:G289V;ENSP00000237019:G250V;ENSP00000372613:G250V	ENSP00000237019:G250V	G	-	2	0	B4GALT6	27460993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.712000	0.92718	0.650000	0.86243	GGA		0.338	B4GALT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254942.2	NM_004775		43	56	1	0	1.06522e-23	0.013114	1.83085e-23	43	56				
PQLC1	80148	broad.mit.edu	37	18	77679237	77679237	+	Silent	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr18:77679237C>A	ENST00000397778.2	-	5	737	c.555G>T	c.(553-555)ctG>ctT	p.L185L	PQLC1_ENST00000590381.1_Intron|PQLC1_ENST00000409073.1_Silent_p.L102L|PQLC1_ENST00000357575.4_Silent_p.L167L	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	185	PQ-loop 2.					integral component of membrane (GO:0016021)		p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		GGGGCACACCCAGCATGGCTT	0.652																																							uc002lnl.2		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(553-555)CTG>CTT		PQ loop repeat containing 1 isoform 1							79.0	70.0	73.0					18																	77679237		2203	4300	6503	SO:0001819	synonymous_variant	80148					integral to membrane		g.chr18:77679237C>A	AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.555G>T	18.37:g.77679237C>A						PQLC1_uc010dre.2_Silent_p.L102L|PQLC1_uc002lnk.2_Silent_p.L167L|PQLC1_uc010xfm.1_Intron	p.L185L	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)	5	727	-		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)	185			PQ-loop 2.|Helical; (Potential).		B7Z7D9|G5E989|Q9H6D0	Silent	SNP	ENST00000397778.2	37	c.555G>T	CCDS12020.1																																																																																				0.652	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256434.1	NM_025078		13	23	1	0	5.50884e-06	0.013537	6.24713e-06	13	23				
STK11	6794	broad.mit.edu	37	19	1220448	1220448	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:1220448A>T	ENST00000326873.7	+	4	1714	c.541A>T	c.(541-543)Aac>Tac	p.N181Y		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	181	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		N -> E (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions).		activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.Y156fs*87(4)|p.?(4)|p.N181Y(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGCCGGGGAACCTGCTGCT	0.662		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																													uc002lrl.1		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	D|Mis|N|F|S	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		jejunal harmartoma|ovarian|testicular|pancreatic	NSCLC|pancreatic		29	Whole gene deletion(20)|Unknown(4)|Deletion - Frameshift(4)|Substitution - Missense(1)	p.0?(19)|p.Y156fs*87(4)|p.?(4)	cervix(15)|lung(10)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1)	266	GRCh37	CM991155|CP044543	STK11	M|X		c.(541-543)AAC>TAC		serine/threonine protein kinase 11							44.0	52.0	49.0					19																	1220448		2087	4233	6320	SO:0001583	missense	6794	Peutz-Jeghers_syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1220448A>T	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.541A>T	19.37:g.1220448A>T	ENSP00000324856:p.Asn181Tyr	TSP Lung(3;<1E-08)					p.N181Y	NM_000455	NP_000446	Q15831	STK11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	4	1656	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)	181		N -> E (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39; requires 2 nucleotide substitutions).	Protein kinase.		B2RBX7|E7EW76	Missense_Mutation	SNP	ENST00000326873.7	37	c.541A>T	CCDS45896.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.363544	0.61513	.	.	ENSG00000118046	ENST00000326873;ENST00000405031	D	0.92048	-2.96	5.6	4.59	0.56863	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	D	0.97914	0.9314	H	0.99697	4.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97690	1.0178	10	0.87932	D	0	-76.3308	12.2181	0.54418	0.8575:0.1425:0.0:0.0	.	181	Q15831	STK11_HUMAN	Y	181	ENSP00000324856:N181Y	ENSP00000324856:N181Y	N	+	1	0	STK11	1171448	1.000000	0.71417	0.967000	0.41034	0.213000	0.24496	9.209000	0.95087	0.945000	0.37605	0.459000	0.35465	AAC		0.662	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455		6	1	0	0	0	0.021553	0	6	1				
HDGFRP2	84717	broad.mit.edu	37	19	4493990	4493990	+	Missense_Mutation	SNP	C	C	T	rs200731789		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:4493990C>T	ENST00000301284.4	+	8	914	c.850C>T	c.(850-852)Ctc>Ttc	p.L284F	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.L284F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		284					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.L284F(1)									GGAGAAGCCTCTCCCGAAGCC	0.701																																							uc002mao.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(850-852)CTC>TTC		hepatoma-derived growth factor-related protein 2			PHE/LEU,PHE/LEU	0,3804		0,0,1902	16.0	21.0	20.0		850,850	3.1	0.4	19		20	5,8231		0,5,4113	yes	missense,missense	HDGFRP2	NM_032631.2,NM_001001520.1	22,22	0,5,6015	TT,TC,CC		0.0607,0.0,0.0415	benign,benign	284/676,284/677	4493990	5,12035	1902	4118	6020	SO:0001583	missense	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4493990C>T																												ENST00000301284.4:c.850C>T	19.37:g.4493990C>T	ENSP00000301284:p.Leu284Phe					HDGFRP2_uc002map.2_Missense_Mutation_p.L284F|HDGFRP2_uc010dtz.1_RNA	p.L284F	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN			8	943	+			284					I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.850C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	c	10.06	1.247297	0.22880	0.0	6.07E-4	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.43294	0.95	4.2	3.12	0.35913	.	0.204902	0.41194	U	0.000921	T	0.22820	0.0551	N	0.08118	0	0.20307	N	0.999918	B;B	0.15141	0.012;0.012	B;B	0.06405	0.002;0.002	T	0.21280	-1.0250	10	0.56958	D	0.05	.	10.821	0.46604	0.0:0.8069:0.1931:0.0	.	284;284	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	F	284;270	ENSP00000301284:L284F	ENSP00000301284:L284F	L	+	1	0	AC011498.1	4444990	0.887000	0.30362	0.434000	0.26772	0.251000	0.25915	2.814000	0.48010	0.924000	0.37069	0.443000	0.29094	CTC		0.701	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			5	1	0	0	0	0.014758	0	5	1				
MUC16	94025	broad.mit.edu	37	19	9075084	9075084	+	Missense_Mutation	SNP	G	G	T	rs377011943		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:9075084G>T	ENST00000397910.4	-	3	12565	c.12362C>A	c.(12361-12363)aCt>aAt	p.T4121N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4123	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T4121N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCAGTGGAGTCCCTGTCCA	0.502																																							uc002mkp.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(12361-12363)ACT>AAT		mucin 16							112.0	108.0	110.0					19																	9075084		2093	4209	6302	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9075084G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.12362C>A	19.37:g.9075084G>T	ENSP00000381008:p.Thr4121Asn						p.T4121N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	12566	-			4123			Thr-rich.|Extracellular (Potential).|Ser-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.12362C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	7.378	0.628228	0.14257	.	.	ENSG00000181143	ENST00000397910	T	0.28069	1.63	2.09	-1.67	0.08238	.	.	.	.	.	T	0.30386	0.0763	L	0.50333	1.59	.	.	.	P	0.44344	0.833	P	0.50270	0.636	T	0.33954	-0.9848	8	0.87932	D	0	.	0.8899	0.01252	0.1567:0.2328:0.3734:0.2372	.	4121	B5ME49	.	N	4121	ENSP00000381008:T4121N	ENSP00000381008:T4121N	T	-	2	0	MUC16	8936084	0.000000	0.05858	0.000000	0.03702	0.465000	0.32709	-0.912000	0.04046	-0.311000	0.08754	0.313000	0.20887	ACT		0.502	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		34	12	1	0	5.91797e-21	0.012213	9.57318e-21	34	12				
OR7E24	26648	broad.mit.edu	37	19	9362240	9362240	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:9362240C>A	ENST00000456448.1	+	1	635	c.521C>A	c.(520-522)tCc>tAc	p.S174Y		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	174						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S174Y(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						CTTTTGGACTCCCAGTTGCAC	0.438																																							uc002mlb.1		NA																	1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(520-522)TCC>TAC		olfactory receptor, family 7, subfamily E,							108.0	120.0	116.0					19																	9362240		2105	4232	6337	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362240C>A	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.521C>A	19.37:g.9362240C>A	ENSP00000387523:p.Ser174Tyr						p.S174Y	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	521	+			174			Helical; Name=4; (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.521C>A	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	c	11.76	1.734654	0.30774	.	.	ENSG00000237521	ENST00000456448	T	0.45668	0.89	2.21	2.21	0.28008	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.68054	0.2959	M	0.89534	3.04	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.57476	-0.7805	9	0.87932	D	0	.	11.2896	0.49241	0.0:1.0:0.0:0.0	.	174	Q6IFN5	O7E24_HUMAN	Y	174	ENSP00000387523:S174Y	ENSP00000387523:S174Y	S	+	2	0	OR7E24	9223240	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.839000	0.27586	1.241000	0.43820	0.436000	0.28706	TCC		0.438	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			14	8	1	0	0.00185496	0.016723	0.00196197	14	8				
PSG11	5680	broad.mit.edu	37	19	43519460	43519460	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:43519460C>A	ENST00000401740.1	-	4	875	c.772G>T	c.(772-774)Gac>Tac	p.D258Y	PSG11_ENST00000595312.1_5'Flank|PSG11_ENST00000403486.1_Missense_Mutation_p.D136Y|PSG11_ENST00000320078.7_Missense_Mutation_p.D258Y|PSG11_ENST00000306322.7_Missense_Mutation_p.D136Y			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 11	256	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)		p.D258Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CAGGACAAGTCGAGGTTCTCT	0.448																																							uc002ovm.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(772-774)GAC>TAC		pregnancy specific beta-1-glycoprotein 11							133.0	143.0	139.0					19																	43519460		2200	4298	6498	SO:0001583	missense	5680				female pregnancy	extracellular region		g.chr19:43519460C>A	U25988	CCDS12614.2, CCDS12615.2	19q13.2	2013-01-29			ENSG00000243130	ENSG00000243130		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9516	protein-coding gene	gene with protein product	"""pregnancy specific beta-1-glycoprotein 13"""	176401		PSG13, PSG14		7794280	Standard	NM_001113410		Approved	MGC22484	uc002ovm.1	Q9UQ72	OTTHUMG00000151546	ENST00000401740.1:c.772G>T	19.37:g.43519460C>A	ENSP00000384995:p.Asp258Tyr					PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG11_uc002ovn.1_Missense_Mutation_p.D264Y|PSG11_uc002ovo.1_Missense_Mutation_p.D136Y|PSG11_uc002ovp.1_Missense_Mutation_p.D136Y	p.D258Y	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN			4	879	-		Prostate(69;0.00682)	258			Ig-like C2-type 2.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	ENST00000401740.1	37	c.772G>T	CCDS12614.2	.	.	.	.	.	.	.	.	.	.	c	0.051	-1.249697	0.01469	.	.	ENSG00000243130	ENST00000320078;ENST00000403486;ENST00000306322;ENST00000401740	T;T;T;T	0.12039	2.72;2.72;2.72;2.72	1.13	-2.25	0.06888	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04770	0.0129	N	0.03304	-0.355	0.09310	N	1	B;B	0.11235	0.004;0.003	B;B	0.18871	0.013;0.023	T	0.34179	-0.9839	9	0.41790	T	0.15	.	2.2582	0.04060	0.0:0.247:0.3096:0.4434	.	136;258	Q9UQ72-2;Q9UQ72	.;PSG11_HUMAN	Y	258;136;136;258	ENSP00000319140:D258Y;ENSP00000385427:D136Y;ENSP00000304913:D136Y;ENSP00000384995:D258Y	ENSP00000304913:D136Y	D	-	1	0	PSG11	48211300	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.587000	0.05780	-1.694000	0.01425	-1.271000	0.01417	GAC		0.448	PSG11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323079.1	NM_002785		125	86	1	0	3.42828e-54	0.01441	6.5019e-54	125	86				
CRX	1406	broad.mit.edu	37	19	48339553	48339553	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:48339553G>T	ENST00000221996.7	+	3	360	c.154G>T	c.(154-156)Gag>Tag	p.E52*	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Nonsense_Mutation_p.E52*	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	52					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|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)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E52*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		GAGCCAACTGGAGGAGCTGGA	0.627																																					Pancreas(57;461 1196 22201 40716 47188)	Pancreas(57;461 1196 22201 40716 47188)	uc002phq.3		NA																	1	Substitution - Nonsense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(154-156)GAG>TAG		cone-rod homeobox protein							85.0	90.0	88.0					19																	48339553		2203	4300	6503	SO:0001587	stop_gained	1406				organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48339553G>T	AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.154G>T	19.37:g.48339553G>T	ENSP00000221996:p.Glu52*					CRX_uc010elm.1_RNA	p.E52*	NM_000554	NP_000545	O43186	CRX_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)	3	358	+		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	52			Homeobox.		Q0QD45	Nonsense_Mutation	SNP	ENST00000221996.7	37	c.154G>T	CCDS12706.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051268	0.75960	.	.	ENSG00000105392	ENST00000221996;ENST00000539067	.	.	.	3.67	3.67	0.42095	.	0.058526	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-20.1887	12.8982	0.58111	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000221996:E52X	E	+	1	0	CRX	53031365	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	4.056000	0.57448	1.883000	0.54544	0.205000	0.17691	GAG		0.627	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409812.4	NM_000554		26	9	1	0	3.01185e-09	0.021523	3.72251e-09	26	9				
ZNF350	59348	broad.mit.edu	37	19	52468837	52468837	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr19:52468837T>C	ENST00000243644.4	-	5	1096	c.869A>G	c.(868-870)tAt>tGt	p.Y290C	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'Flank	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	290					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y290C(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ACTGCATATATAGGGTTTCTC	0.398																																							uc002pyd.2		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(868-870)TAT>TGT		zinc finger protein 350							116.0	111.0	113.0					19																	52468837		2203	4300	6503	SO:0001583	missense	59348				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding	g.chr19:52468837T>C	AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.869A>G	19.37:g.52468837T>C	ENSP00000243644:p.Tyr290Cys					uc002pyb.2_Intron|uc002pyc.2_Intron	p.Y290C	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)	5	1097	-		all_neural(266;0.0505)	290			C2H2-type 4.		Q96G73|Q9HAQ4	Missense_Mutation	SNP	ENST00000243644.4	37	c.869A>G	CCDS12845.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.940394	0.34283	.	.	ENSG00000256683	ENST00000243644	T	0.25414	1.8	3.41	1.19	0.21007	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.512665	0.14722	N	0.302263	T	0.46852	0.1414	M	0.78223	2.4	0.09310	N	1	D	0.89917	1.0	D	0.72982	0.979	T	0.28038	-1.0056	10	0.87932	D	0	.	8.2032	0.31436	0.6533:0.0:0.0:0.3467	.	290	Q9GZX5	ZN350_HUMAN	C	290	ENSP00000243644:Y290C	ENSP00000243644:Y290C	Y	-	2	0	ZNF350	57160649	0.000000	0.05858	0.002000	0.10522	0.882000	0.50991	-0.366000	0.07563	-0.017000	0.14103	0.482000	0.46254	TAT		0.398	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1	NM_021632		3	95	0	0	0	0.004672	0	3	95				
PXDN	7837	broad.mit.edu	37	2	1652105	1652105	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:1652105C>T	ENST00000252804.4	-	17	3497	c.3447G>A	c.(3445-3447)acG>acA	p.T1149T		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1149					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.T1149T(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCAGAGCCACCGTGTGTGCCA	0.652																																							uc002qxa.2		NA																	1	Substitution - coding silent(1)		lung(1)	pancreas(6)|ovary(2)	8						c.(3445-3447)ACG>ACA		peroxidasin precursor							56.0	67.0	64.0					2																	1652105		2066	4226	6292	SO:0001819	synonymous_variant	7837				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	g.chr2:1652105C>T	AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.3447G>A	2.37:g.1652105C>T							p.T1149T	NM_012293	NP_036425	Q92626	PXDN_HUMAN		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)	17	3511	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)	1149					A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	c.3447G>A	CCDS46221.1																																																																																				0.652	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		32	53	0	0	0	0.013726	0	32	53				
APOB	338	broad.mit.edu	37	2	21234296	21234296	+	Missense_Mutation	SNP	C	C	A	rs372389077		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:21234296C>A	ENST00000233242.1	-	26	5571	c.5444G>T	c.(5443-5445)cGg>cTg	p.R1815L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1815					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.R1815L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTTCTAGCCGTAGTTTCCC	0.413																																							uc002red.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(5443-5445)CGG>CTG		apolipoprotein B precursor	Atorvastatin(DB01076)						132.0	137.0	135.0					2																	21234296		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21234296C>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.5444G>T	2.37:g.21234296C>A	ENSP00000233242:p.Arg1815Leu						p.R1815L	NM_000384	NP_000375	P04114	APOB_HUMAN			26	5572	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1815					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.5444G>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.901574	0.33535	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00760	5.73	6.05	4.25	0.50352	.	0.255680	0.27673	N	0.018327	T	0.00784	0.0026	L	0.46157	1.445	0.54753	D	0.999989	B	0.30824	0.296	B	0.20955	0.032	T	0.65759	-0.6090	10	0.40728	T	0.16	.	5.0177	0.14345	0.1494:0.5773:0.0:0.2733	.	1815	P04114	APOB_HUMAN	L	1815	ENSP00000233242:R1815L	ENSP00000233242:R1815L	R	-	2	0	APOB	21087801	0.000000	0.05858	1.000000	0.80357	0.977000	0.68977	0.034000	0.13776	1.575000	0.49775	0.650000	0.86243	CGG		0.413	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			83	125	1	0	5.71386e-39	0.01441	1.04754e-38	83	125				
PLB1	151056	broad.mit.edu	37	2	28748151	28748151	+	Silent	SNP	G	G	A	rs534234691		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:28748151G>A	ENST00000327757.5	+	5	305	c.261G>A	c.(259-261)acG>acA	p.T87T	PLB1_ENST00000422425.2_Silent_p.T87T	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	87	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.T87T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCCAGGGACGGGCGATCTGG	0.507																																							uc002rmb.1		NA																	2	Substitution - coding silent(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(259-261)ACG>ACA		phospholipase B1 precursor							47.0	45.0	45.0					2																	28748151		2203	4300	6503	SO:0001819	synonymous_variant	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28748151G>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.261G>A	2.37:g.28748151G>A						PLB1_uc010ezj.1_Silent_p.T87T	p.T87T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			5	261	+	Acute lymphoblastic leukemia(172;0.155)		87			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Silent	SNP	ENST00000327757.5	37	c.261G>A	CCDS33168.1	.	.	.	.	.	.	.	.	.	.	G	3.276	-0.148130	0.06627	.	.	ENSG00000163803	ENST00000404858	.	.	.	4.45	-8.75	0.00834	.	.	.	.	.	T	0.16981	0.0408	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.15723	-1.0427	4	.	.	.	1.8203	3.875	0.09053	0.5155:0.2407:0.1485:0.0952	.	.	.	.	Q	86	.	.	R	+	2	0	PLB1	28601655	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.311000	0.02723	-2.196000	0.00751	-0.137000	0.14449	CGG		0.507	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			12	16	0	0	0	0.020292	0	12	16				
TTC21B	79809	broad.mit.edu	37	2	166747433	166747433	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:166747433G>A	ENST00000243344.7	-	23	3153	c.3016C>T	c.(3016-3018)Cca>Tca	p.P1006S	TTC21B_ENST00000536175.1_5'Flank	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1006					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)		p.P1006S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						AAAAATCTTGGGACATCCTCG	0.348																																							uc002udk.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)|breast(1)	5						c.(3016-3018)CCA>TCA		tetratricopeptide repeat domain 21B							63.0	67.0	66.0					2																	166747433		2203	4300	6503	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166747433G>A	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3016C>T	2.37:g.166747433G>A	ENSP00000243344:p.Pro1006Ser					TTC21B_uc002udj.1_RNA	p.P1006S	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN			23	3149	-			1006					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3016C>T	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449802	0.84101	.	.	ENSG00000123607	ENST00000243344	T	0.52057	0.68	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.49167	0.1541	M	0.64997	1.995	0.80722	D	1	B	0.30870	0.298	B	0.30316	0.114	T	0.43212	-0.9405	10	0.32370	T	0.25	-18.4322	19.5442	0.95284	0.0:0.0:1.0:0.0	.	1006	Q7Z4L5	TT21B_HUMAN	S	1006	ENSP00000243344:P1006S	ENSP00000243344:P1006S	P	-	1	0	TTC21B	166455679	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.674000	0.74487	2.606000	0.88127	0.544000	0.68410	CCA		0.348	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		25	36	0	0	0	0.01892	0	25	36				
AQP12B	653437	broad.mit.edu	37	2	241621974	241621975	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:241621974_241621975GG>TT	ENST00000407834.3	-	1	342_343	c.280_281CC>AA	c.(280-282)CCc>AAc	p.P94N		NM_001102467.1	NP_001095937.1	A6NM10	AQ12B_HUMAN	aquaporin 12B	82						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.P94N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		GGACACGGTGGGGTTGGCCGAG	0.698																																							uc010fzj.2		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(280-282)CCC>AAC		aquaporin 12B																																				SO:0001583	missense	653437					integral to membrane	transporter activity	g.chr2:241621974_241621975GG>TT	BC041460	CCDS46560.1	2q37.3	2007-12-14	2005-05-26	2005-05-26	ENSG00000185176	ENSG00000185176		"""Ion channels / Aquaporins"""	6096	protein-coding gene	gene with protein product			"""insulin synthesis associated 3"""	INSSA3			Standard	NM_001102467		Approved		uc010fzj.3	A6NM10	OTTHUMG00000152263	ENST00000407834.3:c.280_281delinsTT	2.37:g.241621974_241621975delinsTT	ENSP00000384894:p.Pro94Asn					AQP12B_uc002vzt.2_Intron	p.P94N	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)	1	343_344	-		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	82					A4QPB9	Missense_Mutation	DNP	ENST00000407834.3	37	c.280_281CC>AA	CCDS46560.1																																																																																				0.698	AQP12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325625.1			23	26	0	0	0	0.004672	0	23	26				
SNED1	25992	broad.mit.edu	37	2	242009519	242009519	+	Silent	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:242009519G>A	ENST00000310397.8	+	24	3492	c.3492G>A	c.(3490-3492)ctG>ctA	p.L1164L	SNED1_ENST00000342631.6_Silent_p.L1164L|MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000405547.3_Silent_p.L1164L|SNED1_ENST00000401884.1_Silent_p.L1164L	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1164	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.L1164L(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGCGCGACCTGCTGCCGGGAC	0.632																																							uc002wah.1		NA																	1	Substitution - coding silent(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(3490-3492)CTG>CTA		6720455I24Rik homolog precursor							24.0	30.0	28.0					2																	242009519		2103	4218	6321	SO:0001819	synonymous_variant	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242009519G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3492G>A	2.37:g.242009519G>A						SNED1_uc002wai.1_Silent_p.L399L|SNED1_uc002waj.1_Silent_p.L251L|SNED1_uc002wak.2_Silent_p.L251L|SNED1_uc002wal.2_5'Flank	p.L1164L	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	24	3492	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1164			Fibronectin type-III 3.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	ENST00000310397.8	37	c.3492G>A	CCDS46562.1																																																																																				0.632	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		11	11	0	0	0	0.010729	0	11	11				
TTLL9	164395	broad.mit.edu	37	20	30510852	30510852	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:30510852A>G	ENST00000375938.4	+	8	913	c.660A>G	c.(658-660)atA>atG	p.I220M	TTLL9_ENST00000375922.4_Missense_Mutation_p.I147M|TTLL9_ENST00000375921.2_Missense_Mutation_p.I147M|TTLL9_ENST00000375934.4_Missense_Mutation_p.I202M|TTLL9_ENST00000310998.4_Missense_Mutation_p.I170M|TTLL9_ENST00000535842.1_Missense_Mutation_p.I220M			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	220	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)	ligase activity (GO:0016874)	p.I220M(1)|p.I165M(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTTACCTGATAGGAGGTGAGA	0.483																																							uc010gdx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(658-660)ATA>ATG		tubulin tyrosine ligase-like family, member 9							131.0	132.0	132.0					20																	30510852		2049	4203	6252	SO:0001583	missense	164395				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity	g.chr20:30510852A>G	AL031658	CCDS42863.1	20q11	2013-02-14	2005-07-28	2005-07-28		ENSG00000131044		"""Tubulin tyrosine ligase-like family"""	16118	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 125"""	C20orf125		15890843	Standard	NM_001008409		Approved	dJ310O13.1	uc010gdx.1	Q3SXZ7		ENST00000375938.4:c.660A>G	20.37:g.30510852A>G	ENSP00000365105:p.Ile220Met					TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Missense_Mutation_p.I107M|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA	p.I220M	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)		8	913	+			220			TTL.		A6NH06|A6NIS5|B3KSG8|Q3SXZ8|Q5JYS3|Q5JYS4	Missense_Mutation	SNP	ENST00000375938.4	37	c.660A>G	CCDS42863.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.361330	0.61403	.	.	ENSG00000131044	ENST00000375938;ENST00000535842;ENST00000310998;ENST00000375921;ENST00000375935;ENST00000375934;ENST00000375922	T;T;T;T;T;T	0.08807	3.05;3.05;3.05;3.05;3.05;3.05	4.35	0.515	0.17013	.	0.050619	0.85682	D	0.000000	T	0.24084	0.0583	M	0.86420	2.815	0.45118	D	0.998132	P;D	0.63880	0.813;0.993	P;D	0.64877	0.714;0.93	T	0.00891	-1.1525	10	0.87932	D	0	.	5.1433	0.14971	0.4343:0.2765:0.0:0.2892	.	220;107	Q3SXZ7;B1ANK8	TTLL9_HUMAN;.	M	220;220;170;147;165;202;147	ENSP00000365105:I220M;ENSP00000442515:I220M;ENSP00000308980:I170M;ENSP00000365086:I147M;ENSP00000365100:I202M;ENSP00000365088:I147M	ENSP00000308980:I170M	I	+	3	3	TTLL9	29974513	0.635000	0.27199	0.998000	0.56505	0.964000	0.63967	-0.361000	0.07612	-0.094000	0.12374	0.459000	0.35465	ATA		0.483	TTLL9-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001008409		38	37	0	0	0	0.025465	0	38	37				
SLC13A3	64849	broad.mit.edu	37	20	45221081	45221081	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:45221081C>A	ENST00000279027.4	-	6	900	c.882G>T	c.(880-882)tgG>tgT	p.W294C	SLC13A3_ENST00000290317.5_Missense_Mutation_p.W247C|SLC13A3_ENST00000396360.1_Missense_Mutation_p.W247C|SLC13A3_ENST00000495082.1_Missense_Mutation_p.W247C|SLC13A3_ENST00000372121.1_Missense_Mutation_p.W244C|SLC13A3_ENST00000472148.1_Missense_Mutation_p.W247C|SLC13A3_ENST00000413164.2_Missense_Mutation_p.W244C|SLC13A3_ENST00000435032.1_5'UTR	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	294					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.W294C(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGATCCAGAGCCAGCCTGCCA	0.512																																							uc002xsf.1		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(880-882)TGG>TGT		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						144.0	113.0	124.0					20																	45221081		2203	4300	6503	SO:0001583	missense	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45221081C>A	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.882G>T	20.37:g.45221081C>A	ENSP00000279027:p.Trp294Cys					SLC13A3_uc010ghn.1_Missense_Mutation_p.W263C|SLC13A3_uc010zxw.1_Missense_Mutation_p.W244C|SLC13A3_uc002xsg.1_Missense_Mutation_p.W247C|SLC13A3_uc010gho.1_Missense_Mutation_p.W247C|SLC13A3_uc010zxx.1_Missense_Mutation_p.W196C	p.W294C	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			6	920	-		Myeloproliferative disorder(115;0.0122)	294			Helical; (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	ENST00000279027.4	37	c.882G>T	CCDS13400.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.0|25.0	4.590570|4.590570	0.86851|0.86851	.|.	.|.	ENSG00000158296|ENSG00000158296	ENST00000450298|ENST00000290317;ENST00000396360;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082;ENST00000468915;ENST00000420568;ENST00000372121	.|T;T;T;T;T;T;T;T;T	.|0.15487	.|4.06;4.06;4.06;4.06;3.27;4.06;4.06;2.44;2.42	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.56031|0.56031	0.1958|0.1958	M|M	0.93720|0.93720	3.45|3.45	0.80722|0.80722	D|D	1|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;1.0;1.0	T|T	0.67356|0.67356	-0.5691|-0.5691	5|10	.|0.87932	.|D	.|0	-11.09|-11.09	19.8165|19.8165	0.96571|0.96571	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|244;247;247;294	.|B4DIR8;Q8WWT9-3;F6WI18;Q8WWT9	.|.;.;.;S13A3_HUMAN	S|C	124|247;247;294;247;244;247;247;207;244	.|ENSP00000290317:W247C;ENSP00000379648:W247C;ENSP00000279027:W294C;ENSP00000420177:W247C;ENSP00000415852:W244C;ENSP00000419621:W247C;ENSP00000417784:W247C;ENSP00000395095:W207C;ENSP00000361193:W244C	.|ENSP00000279027:W294C	A|W	-|-	1|3	0|0	SLC13A3|SLC13A3	44654488|44654488	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.304000|7.304000	0.78882|0.78882	2.683000|2.683000	0.91414|0.91414	0.655000|0.655000	0.94253|0.94253	GCT|TGG		0.512	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			14	21	1	0	0.000219431	0.020292	0.000234344	14	21				
MC3R	4159	broad.mit.edu	37	20	54824041	54824041	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:54824041C>A	ENST00000243911.2	+	1	254	c.142C>A	c.(142-144)Ctg>Atg	p.L48M		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	48					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.L85M(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TTTCCTGTCTCTGGGCATCGT	0.572																																							uc002xxb.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)	4						c.(142-144)CTG>ATG		melanocortin 3 receptor							105.0	92.0	96.0					20																	54824041		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824041C>A		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.142C>A	20.37:g.54824041C>A	ENSP00000243911:p.Leu48Met						p.L48M	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	254	+			85			Helical; Name=1; (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.142C>A	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	C	14.72	2.619333	0.46736	.	.	ENSG00000124089	ENST00000243911	T	0.02890	4.12	5.01	4.06	0.47325	.	0.000000	0.51477	D	0.000093	T	0.05044	0.0135	N	0.08118	0	0.41724	D	0.989529	D	0.76494	0.999	D	0.85130	0.997	T	0.53858	-0.8379	10	0.87932	D	0	.	10.4443	0.44483	0.0:0.8491:0.0:0.1509	.	85	P41968	MC3R_HUMAN	M	48	ENSP00000243911:L48M	ENSP00000243911:L48M	L	+	1	2	MC3R	54257448	0.484000	0.25964	0.926000	0.36857	0.440000	0.31957	1.123000	0.31308	2.317000	0.78254	0.650000	0.86243	CTG		0.572	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			40	45	1	0	4.67007e-22	0.00874	7.66727e-22	40	45				
EEF1A2	1917	broad.mit.edu	37	20	62126186	62126186	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr20:62126186C>A	ENST00000298049.7	-	3	663	c.593G>T	c.(592-594)gGt>gTt	p.G198V	EEF1A2_ENST00000217182.3_Missense_Mutation_p.G198V			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	198	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.G198V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CATGTTGTCACCGTGCCAGCC	0.667																																							uc002yfd.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GGT>GTT		eukaryotic translation elongation factor 1 alpha							37.0	31.0	33.0					20																	62126186		2194	4298	6492	SO:0001583	missense	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62126186C>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.593G>T	20.37:g.62126186C>A	ENSP00000298049:p.Gly198Val					EEF1A2_uc002yfe.1_Missense_Mutation_p.G198V|EEF1A2_uc010gkg.1_Missense_Mutation_p.G198V	p.G198V	NM_001958	NP_001949	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		3	694	-	all_cancers(38;9.45e-12)		198					B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	c.593G>T	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392101	0.62066	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.57436	0.4;0.4	3.89	3.89	0.44902	Protein synthesis factor, GTP-binding (1);	0.122893	0.53938	D	0.000054	T	0.80974	0.4727	H	0.96518	3.835	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.985	D	0.88291	0.2943	10	0.87932	D	0	-6.2006	16.2184	0.82243	0.0:1.0:0.0:0.0	.	174;198	Q59GP5;Q05639	.;EF1A2_HUMAN	V	198	ENSP00000298049:G198V;ENSP00000217182:G198V	ENSP00000217182:G198V	G	-	2	0	EEF1A2	61596630	1.000000	0.71417	0.479000	0.27329	0.239000	0.25481	7.663000	0.83820	1.885000	0.54596	0.484000	0.47621	GGT		0.667	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		17	16	1	0	4.96729e-08	0.008871	6.00442e-08	17	16				
ADARB1	104	broad.mit.edu	37	21	46624492	46624492	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr21:46624492G>T	ENST00000360697.3	+	8	1723	c.1708G>T	c.(1708-1710)Gga>Tga	p.G570*	ADARB1_ENST00000348831.4_Nonsense_Mutation_p.G530*|ADARB1_ENST00000539173.1_Nonsense_Mutation_p.G570*|ADARB1_ENST00000389863.4_Nonsense_Mutation_p.G570*|ADARB1_ENST00000437626.1_3'UTR			P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	570	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|positive regulation of viral genome replication (GO:0045070)|regulation of cell cycle (GO:0051726)|RNA processing (GO:0006396)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA adenosine deaminase activity (GO:0003726)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.G570*(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		GGGCATCCAGGGATCCCTGCT	0.592																																							uc002zgy.2		NA																	2	Substitution - Nonsense(2)		lung(2)	skin(1)	1						c.(1708-1710)GGA>TGA		RNA-specific adenosine deaminase B1 isoform 2							130.0	116.0	121.0					21																	46624492		2203	4300	6503	SO:0001587	stop_gained	104				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	g.chr21:46624492G>T	U76420	CCDS33589.1, CCDS33590.1, CCDS42970.1	21q22.3	2012-03-22	2010-06-24		ENSG00000197381	ENSG00000197381	3.5.-.-		226	protein-coding gene	gene with protein product	"""RED1 homolog (rat)"""	601218	"""adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)"""			9143496, 14759252	Standard	NR_027672		Approved	ADAR2, DRADA2, ADAR2g, DRABA2, RED1, hRED1, ADAR2a-L1, ADAR2a-L2, ADAR2a-L3, ADAR2a, ADAR2b, ADAR2c, ADAR2d	uc002zgy.2	P78563	OTTHUMG00000090295	ENST00000360697.3:c.1708G>T	21.37:g.46624492G>T	ENSP00000353920:p.Gly570*					ADARB1_uc002zgr.2_Nonsense_Mutation_p.G570*|ADARB1_uc002zgs.2_RNA|ADARB1_uc002zgw.2_Nonsense_Mutation_p.G530*|ADARB1_uc002zgv.2_RNA|ADARB1_uc002zgt.2_Nonsense_Mutation_p.G530*|ADARB1_uc010gpx.2_RNA|ADARB1_uc002zgq.2_RNA|ADARB1_uc002zgu.2_RNA	p.G570*	NM_015833	NP_056648	P78563	RED1_HUMAN		Colorectal(79;0.115)	10	2143	+			570			A to I editase.		A6NFK8|A6NJ84|C3TTQ1|C3TTQ2|C9JUP4|G5E9B4|O00395|O00465|O00691|O00692|P78555|Q4AE79|Q6P0M9|Q8NFD1	Nonsense_Mutation	SNP	ENST00000360697.3	37	c.1708G>T	CCDS33589.1	.	.	.	.	.	.	.	.	.	.	G	43	10.287780	0.99376	.	.	ENSG00000197381	ENST00000539173;ENST00000539917;ENST00000389863;ENST00000348831;ENST00000360697	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-33.816	15.673	0.77292	0.0:0.0:1.0:0.0	.	.	.	.	X	570;570;570;530;570	.	ENSP00000015877:G530X	G	+	1	0	ADARB1	45448920	1.000000	0.71417	0.995000	0.50966	0.935000	0.57460	9.349000	0.97066	2.365000	0.80145	0.650000	0.86243	GGA		0.592	ADARB1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206648.2	NM_015833		32	19	1	0	8.88839e-20	0.010818	1.39675e-19	32	19				
OXTR	5021	broad.mit.edu	37	3	8809379	8809379	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:8809379C>T	ENST00000316793.3	-	3	1119	c.495G>A	c.(493-495)ctG>ctA	p.L165L	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	165					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)	p.L165L(1)		NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	CGCTGGCCACCAGGCAGCCGA	0.711																																							uc003brc.2		NA																	1	Substitution - coding silent(1)		lung(1)		0						c.(493-495)CTG>CTA		oxytocin receptor	Carbetocin(DB01282)						16.0	20.0	19.0					3																	8809379		2195	4291	6486	SO:0001819	synonymous_variant	5021				female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity	g.chr3:8809379C>T		CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.495G>A	3.37:g.8809379C>T							p.L165L	NM_000916	NP_000907	P30559	OXYR_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.15)	3	1117	-			165			Helical; Name=4; (Potential).		Q15071	Silent	SNP	ENST00000316793.3	37	c.495G>A	CCDS2570.1																																																																																				0.711	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207061.2			7	1	0	0	0	0.008291	0	7	1				
MTMR14	64419	broad.mit.edu	37	3	9704014	9704014	+	Silent	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:9704014G>T	ENST00000296003.4	+	3	494	c.372G>T	c.(370-372)cgG>cgT	p.R124R	MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000351233.5_Silent_p.R124R|MTMR14_ENST00000353332.5_Silent_p.R124R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	124					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)	p.R124R(1)		breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					AGATGGCCCGGTGCAGAGGAC	0.532																																							uc003brz.2		NA																	1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(370-372)CGG>CGT		jumpy isoform 2							110.0	111.0	110.0					3																	9704014		2011	4190	6201	SO:0001819	synonymous_variant	64419					perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity	g.chr3:9704014G>T	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.372G>T	3.37:g.9704014G>T						MTMR14_uc003bsa.2_Silent_p.R124R|MTMR14_uc003bsb.2_Silent_p.R124R|MTMR14_uc011ath.1_Intron|MTMR14_uc010hcl.2_Intron	p.R124R	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN			3	496	+	Medulloblastoma(99;0.227)		124					Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Silent	SNP	ENST00000296003.4	37	c.372G>T	CCDS43043.1																																																																																				0.532	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485		18	6	1	0	2.35188e-11	0.006122	2.97364e-11	18	6				
EPHA3	2042	broad.mit.edu	37	3	89448468	89448468	+	Splice_Site	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr3:89448468C>A	ENST00000336596.2	+	7	1657	c.1432C>A	c.(1432-1434)Cag>Aag	p.Q478K	EPHA3_ENST00000494014.1_Splice_Site_p.Q478K|EPHA3_ENST00000452448.2_Splice_Site_p.Q478K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	478	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.Q478K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GACCTCAAAGCAGGAACAAGA	0.343										TSP Lung(6;0.00050)																													uc003dqy.2		NA																	2	Substitution - Missense(2)		lung(2)	lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1)	33						c.(1432-1434)CAG>AAG		ephrin receptor EphA3 isoform a precursor							65.0	67.0	66.0					3																	89448468		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89448468C>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1432-1C>A	3.37:g.89448468C>A		TSP Lung(6;0.00050)				EPHA3_uc003dqx.1_Missense_Mutation_p.Q478K|EPHA3_uc010hon.1_RNA	p.Q478K	NM_005233	NP_005224	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	7	1657	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	478			Extracellular (Potential).|Fibronectin type-III 2.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1432C>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	C	15.50	2.851396	0.51270	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.56941	0.43;0.43;0.43	5.5	5.5	0.81552	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.057482	0.64402	D	0.000001	T	0.35770	0.0943	N	0.05510	-0.035	0.58432	D	0.999997	B;B	0.31125	0.309;0.108	B;B	0.31946	0.138;0.089	T	0.18493	-1.0335	9	.	.	.	.	19.3919	0.94585	0.0:1.0:0.0:0.0	.	478;478	P29320;P29320-2	EPHA3_HUMAN;.	K	478	ENSP00000337451:Q478K;ENSP00000399926:Q478K;ENSP00000419190:Q478K	.	Q	+	1	0	EPHA3	89531158	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.036000	0.64164	2.575000	0.86900	0.563000	0.77884	CAG		0.343	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Missense_Mutation	25	10	1	0	6.38683e-12	0.008361	8.36371e-12	25	10				
SPATA18	132671	broad.mit.edu	37	4	52943040	52943040	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:52943040G>A	ENST00000295213.4	+	7	1228	c.854G>A	c.(853-855)aGa>aAa	p.R285K	SPATA18_ENST00000419395.2_Missense_Mutation_p.R253K	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	285	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)		p.R285K(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCAGGAGACCGTCCCCA	0.667																																							uc003gzl.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(2)	4						c.(853-855)AGA>AAA		spermatogenesis associated 18 homolog							59.0	49.0	52.0					4																	52943040		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52943040G>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.854G>A	4.37:g.52943040G>A	ENSP00000295213:p.Arg285Lys					SPATA18_uc010igl.1_RNA|SPATA18_uc011bzq.1_Missense_Mutation_p.R253K|SPATA18_uc003gzk.1_Missense_Mutation_p.R285K	p.R285K	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1132	+			285			Ser-rich.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.854G>A	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	G	9.621	1.133915	0.21123	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.26518	1.73;4.14	4.09	-3.4	0.04853	.	0.381171	0.34777	N	0.003693	T	0.15565	0.0375	N	0.14661	0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.06534	-1.0821	10	0.51188	T	0.08	-1.2528	19.2252	0.93815	0.0:0.6943:0.3057:0.0	.	253;285;285	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	K	285;253	ENSP00000295213:R285K;ENSP00000415309:R253K	ENSP00000295213:R285K	R	+	2	0	SPATA18	52637797	0.677000	0.27577	0.001000	0.08648	0.002000	0.02628	0.704000	0.25661	-0.943000	0.03691	-0.502000	0.04539	AGA		0.667	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		14	22	0	0	0	0.020292	0	14	22				
UGT2B4	7363	broad.mit.edu	37	4	70361157	70361157	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:70361157C>A	ENST00000305107.6	-	1	469	c.423G>T	c.(421-423)caG>caT	p.Q141H	UGT2B4_ENST00000512583.1_Missense_Mutation_p.Q141H|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	141					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.Q141H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ATCTTGACTCCTGTAGTTTCT	0.368																																							uc003hek.3		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(421-423)CAG>CAT		UDP glucuronosyltransferase 2B4 precursor							38.0	39.0	39.0					4																	70361157		2154	4286	6440	SO:0001583	missense	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361157C>A	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.423G>T	4.37:g.70361157C>A	ENSP00000305221:p.Gln141His					UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Missense_Mutation_p.Q141H	p.Q141H	NM_021139	NP_066962	P06133	UD2B4_HUMAN			1	470	-			141					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Missense_Mutation	SNP	ENST00000305107.6	37	c.423G>T	CCDS43234.1	.	.	.	.	.	.	.	.	.	.	C	8.322	0.824620	0.16678	.	.	ENSG00000156096	ENST00000512583;ENST00000305107	T;T	0.62232	0.04;0.04	2.4	-2.32	0.06745	.	0.382696	0.23351	U	0.049134	T	0.69869	0.3159	M	0.72118	2.19	0.09310	N	0.999995	B;P	0.50272	0.099;0.933	B;D	0.64877	0.069;0.93	T	0.63116	-0.6709	10	0.59425	D	0.04	.	7.6576	0.28383	0.0:0.5935:0.0:0.4065	.	141;141	G5E9X8;P06133	.;UD2B4_HUMAN	H	141	ENSP00000421290:Q141H;ENSP00000305221:Q141H	ENSP00000305221:Q141H	Q	-	3	2	UGT2B4	70395746	0.000000	0.05858	0.007000	0.13788	0.031000	0.12232	-2.050000	0.01404	-0.605000	0.05753	-0.706000	0.03657	CAG		0.368	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		7	15	1	0	5.18039e-06	0.00308	5.93587e-06	7	15				
FRAS1	80144	broad.mit.edu	37	4	79428721	79428721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:79428721C>T	ENST00000264895.6	+	62	9903	c.9463C>T	c.(9463-9465)Cag>Tag	p.Q3155*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3151					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.Q3156*(1)|p.Q3155*(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AATTCTAGACCAGGAGGCAGC	0.512																																							uc003hlb.2		NA																	2	Substitution - Nonsense(2)		lung(2)	large_intestine(5)	5						c.(9463-9465)CAG>TAG		Fraser syndrome 1							85.0	86.0	86.0					4																	79428721		2128	4252	6380	SO:0001587	stop_gained	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79428721C>T	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.9463C>T	4.37:g.79428721C>T	ENSP00000264895:p.Gln3155*					FRAS1_uc003hlc.1_Nonsense_Mutation_p.Q157*	p.Q3155*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN			62	9903	+			3150			Extracellular (Potential).		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	ENST00000264895.6	37	c.9463C>T	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	43|43	10.301117|10.301117	0.99379|0.99379	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000512123|ENST00000264895	.|.	.|.	.|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	.|0.145268	.|0.48286	.|D	.|0.000184	T|.	0.68183|.	0.2973|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.61763|.	-0.6996|.	4|.	.|0.20519	.|T	.|0.43	.|.	18.88|18.88	0.92352|0.92352	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	1383|3155	.|.	.|ENSP00000264895:Q3155X	P|Q	+|+	2|1	0|0	FRAS1|FRAS1	79647745|79647745	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.948000|0.948000	0.59901|0.59901	7.648000|7.648000	0.83479|0.83479	2.552000|2.552000	0.86080|0.86080	0.591000|0.591000	0.81541|0.81541	CCA|CAG		0.512	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				16	29	0	0	0	0.00499	0	16	29				
ANK2	287	broad.mit.edu	37	4	114095577	114095577	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:114095577C>A	ENST00000357077.4	+	2	143	c.90C>A	c.(88-90)gaC>gaA	p.D30E	ANK2_ENST00000506722.1_Missense_Mutation_p.D9E|ANK2_ENST00000264366.6_Missense_Mutation_p.D30E|ANK2_ENST00000394537.3_Missense_Mutation_p.D30E	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	30					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D30E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CGCAGTCTGACAGCAATGCAA	0.403																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(88-90)GAC>GAA		ankyrin 2 isoform 1							60.0	54.0	56.0					4																	114095577		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114095577C>A	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.90C>A	4.37:g.114095577C>A	ENSP00000349588:p.Asp30Glu					ANK2_uc003ibd.3_Missense_Mutation_p.D9E|ANK2_uc003ibf.3_Missense_Mutation_p.D30E|ANK2_uc003ibc.2_Missense_Mutation_p.D6E|ANK2_uc011cgb.1_Missense_Mutation_p.D45E	p.D30E	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	2	190	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	30			ANK 1.		Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.90C>A	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999998	0.74818	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000508613;ENST00000511380;ENST00000343056	T;T;T;T;T;T;T;T;T	0.68624	1.88;-0.02;-0.27;-0.21;-0.27;-0.3;-0.32;-0.34;-0.34	5.54	3.81	0.43845	Ankyrin repeat-containing domain (2);	0.000000	0.53938	D	0.000052	T	0.74114	0.3674	L	0.46157	1.445	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.99	D;D;D;D;D	0.91635	0.996;0.999;0.998;0.995;0.98	T	0.73720	-0.3894	10	0.46703	T	0.11	.	11.1003	0.48170	0.0:0.8497:0.0:0.1503	.	30;30;30;9;9	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	E	9;9;9;45;30;30;30;45;47;9	ENSP00000423799:D9E;ENSP00000421011:D9E;ENSP00000421067:D9E;ENSP00000424722:D45E;ENSP00000378044:D30E;ENSP00000349588:D30E;ENSP00000264366:D30E;ENSP00000422900:D45E;ENSP00000425775:D47E	ENSP00000264366:D30E	D	+	3	2	ANK2	114315026	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	2.566000	0.45948	1.334000	0.45468	0.655000	0.94253	GAC		0.403	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	12	1	0	3.86212e-05	0.008291	4.20627e-05	11	12				
ANK2	287	broad.mit.edu	37	4	114238920	114238920	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:114238920G>T	ENST00000357077.4	+	25	2804	c.2751G>T	c.(2749-2751)agG>agT	p.R917S	ANK2_ENST00000506722.1_Missense_Mutation_p.R896S|ANK2_ENST00000509550.1_Missense_Mutation_p.R126S|ANK2_ENST00000264366.6_Missense_Mutation_p.R917S|ANK2_ENST00000394537.3_Missense_Mutation_p.R917S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	917					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.R917S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCTACCTGAGGGACAGTGCCG	0.498																																							uc003ibe.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1)	14						c.(2749-2751)AGG>AGT		ankyrin 2 isoform 1							179.0	144.0	156.0					4																	114238920		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding|protein binding	g.chr4:114238920G>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.2751G>T	4.37:g.114238920G>T	ENSP00000349588:p.Arg917Ser					ANK2_uc003ibd.3_Missense_Mutation_p.R896S|ANK2_uc003ibf.3_Missense_Mutation_p.R917S|ANK2_uc011cgc.1_Missense_Mutation_p.R126S|ANK2_uc003ibg.3_5'Flank|ANK2_uc003ibc.2_Missense_Mutation_p.R893S|ANK2_uc011cgb.1_Missense_Mutation_p.R932S	p.R917S	NM_001148	NP_001139	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	25	2851	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	917					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.2751G>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502787	0.44558	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056;ENST00000509550	T;T;T;T;T;T;T;T	0.76316	-0.15;-0.05;-0.26;-0.13;-0.22;-0.25;-0.35;-1.01	6.06	3.32	0.38043	.	0.088619	0.48767	D	0.000177	T	0.75708	0.3886	L	0.49126	1.545	0.80722	D	1	B;P;B;D;B;B	0.58620	0.094;0.539;0.0;0.983;0.163;0.053	B;B;B;P;B;B	0.50860	0.034;0.135;0.002;0.652;0.075;0.043	T	0.73858	-0.3850	10	0.35671	T	0.21	.	9.7888	0.40692	0.1048:0.2241:0.6712:0.0	.	126;917;917;917;896;896	E9PCH6;Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	.;ANK2_HUMAN;.;.;.;.	S	896;863;896;932;917;917;917;896;126	ENSP00000423799:R896S;ENSP00000421011:R863S;ENSP00000421067:R896S;ENSP00000424722:R932S;ENSP00000378044:R917S;ENSP00000349588:R917S;ENSP00000264366:R917S;ENSP00000426944:R126S	ENSP00000264366:R917S	R	+	3	2	ANK2	114458369	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.896000	0.28377	1.513000	0.48852	0.650000	0.86243	AGG		0.498	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		11	24	1	0	3.07112e-06	0.010729	3.55603e-06	11	24				
SPATA5	166378	broad.mit.edu	37	4	123855380	123855380	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr4:123855380A>T	ENST00000274008.4	+	5	703	c.634A>T	c.(634-636)Act>Tct	p.T212S	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	212					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.T212S(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TGACTCTGACACTGATGCCCA	0.483																																							uc003iez.3		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(634-636)ACT>TCT		spermatogenesis associated 5							102.0	94.0	97.0					4																	123855380		2203	4300	6503	SO:0001583	missense	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:123855380A>T	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.634A>T	4.37:g.123855380A>T	ENSP00000274008:p.Thr212Ser					SPATA5_uc003iey.2_Missense_Mutation_p.T211S	p.T212S	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			5	707	+			212					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	ENST00000274008.4	37	c.634A>T	CCDS3730.1	.	.	.	.	.	.	.	.	.	.	A	0.782	-0.761841	0.02996	.	.	ENSG00000145375	ENST00000274008	D	0.94000	-3.33	4.83	-2.74	0.05932	.	0.898125	0.09859	N	0.746526	D	0.84977	0.5592	L	0.34521	1.04	0.09310	N	1	B;B	0.18610	0.013;0.029	B;B	0.13407	0.006;0.009	T	0.69899	-0.5020	10	0.12103	T	0.63	-25.0896	6.482	0.22067	0.4753:0.252:0.2727:0.0	.	212;212	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	S	212	ENSP00000274008:T212S	ENSP00000274008:T212S	T	+	1	0	SPATA5	124074830	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.225000	0.17757	-0.165000	0.10908	-0.256000	0.11100	ACT		0.483	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		32	48	0	0	0	0.017118	0	32	48				
TRIO	7204	broad.mit.edu	37	5	14359507	14359507	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:14359507C>T	ENST00000344204.4	+	13	2282	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	TRIO_ENST00000509967.2_Missense_Mutation_p.S704F|TRIO_ENST00000537187.1_Missense_Mutation_p.S753F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	753					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S753F(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACAACAGCTCCATCAACCAC	0.547																																							uc003jff.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1)	18						c.(2257-2259)TCC>TTC		triple functional domain (PTPRF interacting)							91.0	87.0	88.0					5																	14359507		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14359507C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2258C>T	5.37:g.14359507C>T	ENSP00000339299:p.Ser753Phe					TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.S704F|TRIO_uc003jfh.1_Missense_Mutation_p.S402F	p.S753F	NM_007118	NP_009049	O75962	TRIO_HUMAN			13	2264	+	Lung NSC(4;0.000742)		753					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.2258C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180312	0.78677	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.53206	0.92;0.92;0.63	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.68952	0.3057	M	0.68317	2.08	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.995	D;D;D	0.91635	0.999;0.964;0.986	T	0.71941	-0.4440	10	0.87932	D	0	.	18.9902	0.92788	0.0:1.0:0.0:0.0	.	704;753;753	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	F	753;753;704;440	ENSP00000339299:S753F;ENSP00000446348:S753F;ENSP00000445592:S704F	ENSP00000339299:S753F	S	+	2	0	TRIO	14412507	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.489000	0.83994	0.650000	0.86243	TCC		0.547	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		30	31	0	0	0	0.012213	0	30	31				
CWC27	10283	broad.mit.edu	37	5	64267586	64267586	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:64267586T>A	ENST00000381070.3	+	12	1316	c.1099T>A	c.(1099-1101)Tat>Aat	p.Y367N	CWC27_ENST00000545000.1_3'UTR	NM_005869.2	NP_005860.2	Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	367					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)	p.Y367N(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AAAGCAAAAGTATGAAGCTTT	0.373																																							uc003jtn.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(1099-1101)TAT>AAT		serologically defined colon cancer antigen 10							61.0	65.0	64.0					5																	64267586		2203	4300	6503	SO:0001583	missense	10283				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64267586T>A	AF039692	CCDS3982.2, CCDS75252.1	5q12.3	2010-01-26	2010-01-26	2010-01-26	ENSG00000153015	ENSG00000153015			10664	protein-coding gene	gene with protein product			"""serologically defined colon cancer antigen 10"""	SDCCAG10		9610721, 19941820	Standard	XM_005248399		Approved	NY-CO-10	uc003jtn.1	Q6UX04	OTTHUMG00000074069	ENST00000381070.3:c.1099T>A	5.37:g.64267586T>A	ENSP00000370460:p.Tyr367Asn					CWC27_uc010iwt.1_Missense_Mutation_p.Y367N	p.Y367N	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN			12	1318	+			367			Potential.		O60529|O60530|Q96EM3	Missense_Mutation	SNP	ENST00000381070.3	37	c.1099T>A	CCDS3982.2	.	.	.	.	.	.	.	.	.	.	T	22.7	4.321060	0.81580	.	.	ENSG00000153015	ENST00000381070;ENST00000538793	T	0.25912	1.77	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.54631	0.1870	M	0.84082	2.675	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.927	T	0.55685	-0.8102	10	0.39692	T	0.17	.	16.5285	0.84344	0.0:0.0:0.0:1.0	.	367;367	Q6UX04-2;Q6UX04	.;CWC27_HUMAN	N	367	ENSP00000370460:Y367N	ENSP00000370460:Y367N	Y	+	1	0	CWC27	64303342	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.723000	0.68492	2.307000	0.77673	0.528000	0.53228	TAT		0.373	CWC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157247.4	NM_005869		19	29	0	0	0	0.014323	0	19	29				
Unknown	0	broad.mit.edu	37	5	79596032	79596032	+	IGR	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:79596032T>A								SERINC5 (44134 upstream) : SNORA31 (6021 downstream)																							GGTGAAGCTGTAGCCACACTG	0.547																																							uc010jai.2		NA																	0					0						c.(124-126)TAC>TTC		Homo sapiens cytoplasmic beta-actin pseudogene, mRNA (cDNA clone IMAGE:30378151).																																				SO:0001628	intergenic_variant	644936							g.chr5:79596032T>A																													5.37:g.79596032T>A							p.Y42F	NR_004845						1	266	-									Missense_Mutation	SNP		37	c.125A>T																																																																																				0	0.547									4	12	0	0	0	0.009096	0	4	12				
GPR98	84059	broad.mit.edu	37	5	90020785	90020785	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:90020785G>T	ENST00000405460.2	+	46	9981	c.9885G>T	c.(9883-9885)caG>caT	p.Q3295H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3295					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.Q3295H(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACCGATGGCAGGGGATTTTTA	0.284																																							uc003kju.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(11)|central_nervous_system(3)|pancreas(2)	16						c.(9883-9885)CAG>CAT		G protein-coupled receptor 98 precursor							57.0	50.0	52.0					5																	90020785		1787	4057	5844	SO:0001583	missense	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90020785G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.9885G>T	5.37:g.90020785G>T	ENSP00000384582:p.Gln3295His					GPR98_uc003kjt.2_Missense_Mutation_p.Q1001H|GPR98_uc003kjv.2_Missense_Mutation_p.Q895H	p.Q3295H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	46	9981	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	3295			Extracellular (Potential).		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	c.9885G>T	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.55|16.55	3.155752|3.155752	0.57259|0.57259	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619|ENST00000509621	T|.	0.30182|.	1.54|.	5.51|5.51	2.99|2.99	0.34606|0.34606	.|.	0.117629|.	0.64402|.	D|.	0.000010|.	T|T	0.61937|0.61937	0.2387|0.2387	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D|.	0.67145|.	0.996;0.996|.	P;P|.	0.59703|.	0.846;0.862|.	T|T	0.56511|0.56511	-0.7967|-0.7967	10|5	0.87932|.	D|.	0|.	.|.	8.2243|8.2243	0.31560|0.31560	0.7033:0.0:0.2967:0.0|0.7033:0.0:0.2967:0.0	.|.	3295;3295|.	E7ETI5;Q8WXG9|.	.;GPR98_HUMAN|.	H|M	3295|861	ENSP00000384582:Q3295H|.	ENSP00000296619:Q3295H|.	Q|R	+|+	3|2	2|0	GPR98|GPR98	90056541|90056541	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.985000|1.985000	0.40668|0.40668	0.385000|0.385000	0.24970|0.24970	-0.455000|-0.455000	0.05494|0.05494	CAG|AGG		0.284	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		15	24	1	0	7.93312e-07	0.020292	9.28344e-07	15	24				
PCDHGA3	56112	broad.mit.edu	37	5	140723683	140723683	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:140723683C>A	ENST00000253812.6	+	1	83	c.83C>A	c.(82-84)tCc>tAc	p.S28Y	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	28					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S28Y(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAACAGGATCCGGTCAGATC	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003ljm.1		NA																	1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(82-84)TCC>TAC		protocadherin gamma subfamily A, 3 isoform 1							118.0	131.0	127.0					5																	140723683		2095	4251	6346	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140723683C>A	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.83C>A	5.37:g.140723683C>A	ENSP00000253812:p.Ser28Tyr		OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_5'UTR|PCDHGA3_uc011dap.1_Missense_Mutation_p.S28Y	p.S28Y	NM_018916	NP_061739	Q9Y5H0	PCDG3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	83	+			28					Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.83C>A	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	6.474	0.455713	0.12283	.	.	ENSG00000254245	ENST00000253812	T	0.50277	0.75	5.54	-0.759	0.11045	Cadherin (2);	0.567920	0.12947	U	0.426118	T	0.46870	0.1415	M	0.76328	2.33	0.09310	N	1	P;B	0.35551	0.509;0.375	P;B	0.45428	0.48;0.287	T	0.43523	-0.9386	10	0.11794	T	0.64	.	4.0713	0.09884	0.1023:0.2634:0.4344:0.2	.	28;28	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Y	28	ENSP00000253812:S28Y	ENSP00000253812:S28Y	S	+	2	0	PCDHGA3	140703867	0.000000	0.05858	0.000000	0.03702	0.606000	0.37113	-0.892000	0.04131	-0.388000	0.07797	0.655000	0.94253	TCC		0.587	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916		84	110	1	0	1.92282e-43	0.01441	3.58492e-43	84	110				
DRD1	1812	broad.mit.edu	37	5	174869091	174869091	+	Silent	SNP	G	G	T	rs532843195		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr5:174869091G>T	ENST00000393752.2	-	2	2004	c.1012C>A	c.(1012-1014)Cgg>Agg	p.R338R		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	338					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult walking behavior (GO:0007628)|astrocyte development (GO:0014002)|behavioral fear response (GO:0001662)|behavioral response to cocaine (GO:0048148)|cellular response to catecholamine stimulus (GO:0071870)|cerebral cortex GABAergic interneuron migration (GO:0021853)|conditioned taste aversion (GO:0001661)|dentate gyrus development (GO:0021542)|dopamine metabolic process (GO:0042417)|dopamine transport (GO:0015872)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose import (GO:0046323)|grooming behavior (GO:0007625)|habituation (GO:0046959)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|maternal behavior (GO:0042711)|mating behavior (GO:0007617)|memory (GO:0007613)|neuronal action potential (GO:0019228)|operant conditioning (GO:0035106)|peristalsis (GO:0030432)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of potassium ion transport (GO:0043268)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|prepulse inhibition (GO:0060134)|protein import into nucleus (GO:0006606)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|sensitization (GO:0046960)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|transmission of nerve impulse (GO:0019226)|vasodilation (GO:0042311)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acepromazine(DB01614)|Acetophenazine(DB01063)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Dopamine(DB00988)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Methylergometrine(DB00353)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Phenylpropanolamine(DB00397)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Ziprasidone(DB00246)	AATGCCTTCCGAAAATCAGCA	0.458																																							uc003mcz.2		NA																	0				ovary(2)|skin(1)	3						c.(1012-1014)CGG>AGG		dopamine receptor D1	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)						91.0	90.0	91.0					5																	174869091		2203	4300	6503	SO:0001819	synonymous_variant	1812				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding	g.chr5:174869091G>T	X55760	CCDS4393.1	5q34-q35	2012-08-08			ENSG00000184845	ENSG00000184845		"""GPCR / Class A : Dopamine receptors"""	3020	protein-coding gene	gene with protein product		126449					Standard	NM_000794		Approved		uc003mcz.3	P21728	OTTHUMG00000130557	ENST00000393752.2:c.1012C>A	5.37:g.174869091G>T							p.R338R	NM_000794	NP_000785	P21728	DRD1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		2	1957	-	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	338			Cytoplasmic (Potential).		B2RA44|Q4QRJ0	Silent	SNP	ENST00000393752.2	37	c.1012C>A	CCDS4393.1																																																																																				0.458	DRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252982.2	NM_000794		36	66	1	0	3.03874e-20	0.015359	4.84437e-20	36	66				
HIST1H4J	8363	broad.mit.edu	37	6	27792201	27792201	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:27792201G>A	ENST00000355057.1	+	1	318	c.299G>A	c.(298-300)gGt>gAt	p.G100D		NM_021968.3	NP_068803.1	P62805	H4_HUMAN	histone cluster 1, H4j	100					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.G100D(1)		lung(2)|ovary(1)|pancreas(1)	4						ACCCTCTACGGTTTCGGTGGT	0.567																																							uc003njp.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(298-300)GGT>GAT		histone cluster 1, H4j							29.0	30.0	30.0					6																	27792201		2203	4300	6503	SO:0001583	missense	8363				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:27792201G>A	J00188	CCDS4630.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197238	ENSG00000197238		"""Histones / Replication-dependent"""	4785	protein-coding gene	gene with protein product		602826	"""H4 histone family, member E"", ""histone 1, H4j"""	H4FE		6265100, 9439656, 12408966	Standard	NM_021968		Approved	H4/e, H4F2iv	uc003njp.3	P62805	OTTHUMG00000014487	ENST00000355057.1:c.299G>A	6.37:g.27792201G>A	ENSP00000347168:p.Gly100Asp					uc003njq.2_5'Flank	p.G100D	NM_021968	NP_068803	P62805	H4_HUMAN			1	299	+			100					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000355057.1	37	c.299G>A	CCDS4630.1	.	.	.	.	.	.	.	.	.	.	.	18.44	3.623512	0.66901	.	.	ENSG00000197238	ENST00000355057	.	.	.	3.93	3.93	0.45458	.	0.000000	0.64402	U	0.000001	T	0.65228	0.2671	.	.	.	0.53688	D	0.99997	.	.	.	.	.	.	T	0.69335	-0.5172	6	0.56958	D	0.05	.	13.9744	0.64262	0.0:0.0:1.0:0.0	.	.	.	.	D	100	.	ENSP00000347168:G100D	G	+	2	0	HIST1H4J	27900180	1.000000	0.71417	1.000000	0.80357	0.195000	0.23768	9.246000	0.95438	2.134000	0.65973	0.585000	0.79938	GGT		0.567	HIST1H4J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040155.1	NM_021968		6	23	0	0	0	0.016723	0	6	23				
GLTSCR1L	23506	broad.mit.edu	37	6	42797677	42797677	+	Nonsense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:42797677G>T	ENST00000314073.5	+	6	1782	c.1606G>T	c.(1606-1608)Gga>Tga	p.G536*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.G536*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	536								p.G536*(1)									AAGCATGTCAGGACCTAGTCG	0.552																																							uc003osn.1		NA																	1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1606-1608)GGA>TGA		hypothetical protein LOC23506							103.0	86.0	91.0					6																	42797677		2203	4300	6503	SO:0001587	stop_gained	23506							g.chr6:42797677G>T	AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.1606G>T	6.37:g.42797677G>T	ENSP00000313933:p.Gly536*					KIAA0240_uc003osm.1_Nonsense_Mutation_p.G536*|KIAA0240_uc011duw.1_Nonsense_Mutation_p.G536*|KIAA0240_uc003oso.1_Nonsense_Mutation_p.G536*|KIAA0240_uc003osp.1_Nonsense_Mutation_p.G536*	p.G536*	NM_015349	NP_056164	Q6AI39	K0240_HUMAN	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104)		6	1757	+	Colorectal(47;0.196)		536					A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	ENST00000314073.5	37	c.1606G>T	CCDS34451.1	.	.	.	.	.	.	.	.	.	.	G	38	6.841073	0.97877	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	.	.	.	5.92	5.03	0.67393	.	0.263184	0.32970	N	0.005433	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-12.2617	10.7166	0.46015	0.0:0.1247:0.6224:0.2529	.	.	.	.	X	536	.	ENSP00000313933:G536X	G	+	1	0	KIAA0240	42905655	0.901000	0.30685	1.000000	0.80357	0.998000	0.95712	1.740000	0.38228	2.809000	0.96659	0.655000	0.94253	GGA		0.552	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040562.3	NM_015349		39	30	1	0	6.97489e-18	0.021022	1.06561e-17	39	30				
RUNX2	860	broad.mit.edu	37	6	45480133	45480133	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:45480133G>T	ENST00000371438.1	+	6	1368	c.1010G>T	c.(1009-1011)aGg>aTg	p.R337M	RUNX2_ENST00000371432.3_Missense_Mutation_p.R323M|RUNX2_ENST00000541979.1_Missense_Mutation_p.R405M|RUNX2_ENST00000352853.5_Missense_Mutation_p.R405M|RUNX2_ENST00000576263.1_Missense_Mutation_p.R337M|RUNX2_ENST00000371436.6_Missense_Mutation_p.R337M|RUNX2_ENST00000465038.2_Missense_Mutation_p.R337M|RUNX2_ENST00000359524.5_Missense_Mutation_p.R323M	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	337	Interaction with KAT6A. {ECO:0000250}.|Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R337M(1)|p.R405M(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GATGTGCCTAGGCGCATTTCA	0.592																																							uc011dvx.1		NA																	2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1009-1011)AGG>ATG		runt-related transcription factor 2 isoform a							104.0	86.0	92.0					6																	45480133		2203	4300	6503	SO:0001583	missense	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45480133G>T	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.1010G>T	6.37:g.45480133G>T	ENSP00000360493:p.Arg337Met					RUNX2_uc011dvy.1_Missense_Mutation_p.R337M|RUNX2_uc003oxt.2_Missense_Mutation_p.R323M	p.R337M	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			7	1220	+			337			Interaction with MYST3 (By similarity).|Pro/Ser/Thr-rich.		O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	c.1010G>T	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495489	0.85069	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	6.06	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.92344	0.7571	M	0.65975	2.015	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.996	P;P;P	0.61201	0.829;0.885;0.875	D	0.92805	0.6259	10	0.54805	T	0.06	-8.0572	15.3434	0.74314	0.0665:0.0:0.9335:0.0	.	405;337;323	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	M	337;405;405;337;337;323;323	ENSP00000420707:R337M;ENSP00000319087:R405M;ENSP00000446290:R405M;ENSP00000360493:R337M;ENSP00000360491:R337M;ENSP00000352514:R323M;ENSP00000360486:R323M	ENSP00000319087:R405M	R	+	2	0	RUNX2	45588111	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.390000	0.97246	1.582000	0.49881	0.650000	0.86243	AGG		0.592	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		46	38	1	0	2.77807e-22	0.013114	4.63012e-22	46	38				
TAGAP	117289	broad.mit.edu	37	6	159456981	159456981	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr6:159456981G>T	ENST00000367066.3	-	10	2405	c.2074C>A	c.(2074-2076)Ctc>Atc	p.L692I	RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.L514I|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	692					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.L692I(1)		NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCAGCGGGAGGAGCTCAGGT	0.602																																							uc003qrz.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2074-2076)CTC>ATC		T-cell activation Rho GTPase-activating protein							65.0	60.0	62.0					6																	159456981		2203	4300	6503	SO:0001583	missense	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159456981G>T	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.2074C>A	6.37:g.159456981G>T	ENSP00000356033:p.Leu692Ile					TAGAP_uc011eft.1_Missense_Mutation_p.L629I|TAGAP_uc003qsa.2_Missense_Mutation_p.L514I	p.L692I	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	2406	-		Breast(66;0.000776)|Ovarian(120;0.0303)	692					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Missense_Mutation	SNP	ENST00000367066.3	37	c.2074C>A	CCDS5261.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.276402	0.23307	.	.	ENSG00000164691	ENST00000367066;ENST00000326965	T;T	0.17370	2.28;2.54	5.54	2.76	0.32466	.	1.659960	0.02747	N	0.117011	T	0.03695	0.0105	N	0.22421	0.69	0.19300	N	0.999972	B	0.23806	0.091	B	0.19148	0.024	T	0.29912	-0.9996	10	0.27082	T	0.32	-5.3149	4.4073	0.11416	0.2981:0.1743:0.5275:0.0	.	692	Q8N103	TAGAP_HUMAN	I	692;514	ENSP00000356033:L692I;ENSP00000322650:L514I	ENSP00000322650:L514I	L	-	1	0	TAGAP	159376969	0.003000	0.15002	0.001000	0.08648	0.007000	0.05969	1.505000	0.35736	1.341000	0.45600	0.563000	0.77884	CTC		0.602	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		36	39	1	0	1.08052e-11	0.019004	1.38206e-11	36	39				
ITGB8	3696	broad.mit.edu	37	7	20418673	20418673	+	Splice_Site	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:20418673G>T	ENST00000222573.4	+	4	1072		c.e4-1		ITGB8_ENST00000537992.1_Splice_Site|SNORD56_ENST00000363883.1_RNA	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.?(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TATTGAACTAGGAGCCGAAGC	0.328																																							uc003suu.2		NA																	2	Unknown(2)		lung(2)	skin(3)	3						c.e4-1		integrin, beta 8 precursor							60.0	69.0	66.0					7																	20418673		2138	4281	6419	SO:0001630	splice_region_variant	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20418673G>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	ENST00000222573.4:c.389-1G>T	7.37:g.20418673G>T						ITGB8_uc011jyh.1_Splice_Site|ITGB8_uc003sut.2_Splice_Site_p.G130_splice	p.G130_splice	NM_002214	NP_002205	P26012	ITB8_HUMAN			4	1094	+								A4D133|B4DHD4	Splice_Site	SNP	ENST00000222573.4	37	c.389_splice	CCDS5370.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.976286	0.74360	.	.	ENSG00000105855	ENST00000222573	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.5789	0.95458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ITGB8	20385198	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	7.543000	0.82106	2.689000	0.91719	0.650000	0.86243	.		0.328	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214	Intron	35	68	1	0	1.67305e-13	0.025465	2.32956e-13	35	68				
PDE1C	5137	broad.mit.edu	37	7	31877567	31877567	+	Silent	SNP	T	T	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:31877567T>A	ENST00000396191.1	-	10	1454	c.999A>T	c.(997-999)gtA>gtT	p.V333V	PDE1C_ENST00000396193.1_Silent_p.V393V|PDE1C_ENST00000396184.3_Silent_p.V333V|PDE1C_ENST00000321453.7_Silent_p.V333V|PDE1C_ENST00000396182.2_Silent_p.V333V	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	333	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.V333V(2)|p.V393V(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	CCATTTCAATTACCAAGGTTC	0.408																																							uc003tcm.1		NA																	3	Substitution - coding silent(3)		lung(3)	skin(3)|central_nervous_system(1)	4						c.(997-999)GTA>GTT		phosphodiesterase 1C							196.0	199.0	198.0					7																	31877567		2203	4300	6503	SO:0001819	synonymous_variant	5137				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr7:31877567T>A	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.999A>T	7.37:g.31877567T>A						PDE1C_uc003tcn.1_Silent_p.V333V|PDE1C_uc003tco.1_Silent_p.V393V|PDE1C_uc003tcr.2_Silent_p.V333V|PDE1C_uc003tcs.2_Silent_p.V333V	p.V333V	NM_005020	NP_005011	Q14123	PDE1C_HUMAN	GBM - Glioblastoma multiforme(11;0.216)		10	1468	-			333			Catalytic (By similarity).		B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	ENST00000396191.1	37	c.999A>T	CCDS55099.1																																																																																				0.408	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328458.1			100	145	0	0	0	0.01441	0	100	145				
PHKG1	5260	broad.mit.edu	37	7	56149703	56149703	+	Silent	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:56149703G>T	ENST00000297373.2	-	8	869	c.675C>A	c.(673-675)gcC>gcA	p.A225A	PHKG1_ENST00000537360.1_Silent_p.A171A|PHKG1_ENST00000452681.2_Silent_p.A257A|PHKG1_ENST00000489604.1_5'Flank	NM_001258460.1|NM_006213.4	NP_001245389.1|NP_006204.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	225	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)	ATP binding (GO:0005524)|phosphorylase kinase activity (GO:0004689)|tau-protein kinase activity (GO:0050321)	p.A225A(1)		endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCGGGGAGCCGGCCAGCAGCG	0.647																																					Melanoma(184;580 2064 5329 24177 35303)	Melanoma(184;580 2064 5329 24177 35303)	uc003trz.1		NA																	1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(673-675)GCC>GCA		phosphorylase kinase gamma subunit 1							42.0	38.0	39.0					7																	56149703		2203	4300	6503	SO:0001819	synonymous_variant	5260				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	g.chr7:56149703G>T	X80590	CCDS5525.1, CCDS59057.1	7p11.2	2009-07-10			ENSG00000164776	ENSG00000164776	2.7.11.19		8930	protein-coding gene	gene with protein product		172470		PHKG		8530014	Standard	NM_001258459		Approved		uc011kdb.2	Q16816	OTTHUMG00000023869	ENST00000297373.2:c.675C>A	7.37:g.56149703G>T						PSPH_uc003trj.2_Intron|PHKG1_uc003try.1_Silent_p.A119A|PHKG1_uc011kdb.1_Silent_p.A257A|PHKG1_uc011kdc.1_Silent_p.A216A|PHKG1_uc011kdd.1_Silent_p.A171A	p.A225A	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		8	870	-	Breast(14;0.214)		225			Protein kinase.		B7Z1D0|F5H2S1|Q75LP5	Silent	SNP	ENST00000297373.2	37	c.675C>A	CCDS5525.1																																																																																				0.647	PHKG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251587.1	NM_006213		12	16	1	0	2.80697e-09	0.010729	3.50872e-09	12	16				
ZNF733P	643955	broad.mit.edu	37	7	62758678	62758678	+	RNA	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:62758678C>A	ENST00000331425.6	-	0	199					NR_003952.1				zinc finger protein 733, pseudogene																		TCTCTAACATCACATGTCTAT	0.378																																							uc011kdj.1		NA																	0					0						c.(130-132)GTG>GTT		Homo sapiens cDNA clone IMAGE:30377995, containing frame-shift errors.																																						643955							g.chr7:62758678C>A			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62758678C>A							p.V44V	NR_003952						2	200	-									Silent	SNP	ENST00000331425.6	37	c.132G>T																																																																																					0.378	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			24	142	1	0	5.61819e-17	0.027356	8.46576e-17	24	142				
GSAP	54103	broad.mit.edu	37	7	76950085	76950085	+	Silent	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:76950085C>T	ENST00000257626.7	-	26	2124	c.2046G>A	c.(2044-2046)agG>agA	p.R682R	GSAP_ENST00000441833.2_Silent_p.R3R|GSAP_ENST00000440473.1_5'UTR	NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	682					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.R682R(1)									CTTCCAGAATCCTGGTCATGA	0.408																																							uc003ugf.2		NA																	1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(2044-2046)AGG>AGA		pigeon homolog							82.0	79.0	80.0					7																	76950085		1884	4115	5999	SO:0001819	synonymous_variant	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:76950085C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.2046G>A	7.37:g.76950085C>T						PION_uc011kgo.1_Silent_p.R3R|PION_uc003ugd.2_Silent_p.R76R	p.R682R	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			26	2125	-			682					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Silent	SNP	ENST00000257626.7	37	c.2046G>A	CCDS34672.2																																																																																				0.408	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2	NM_017439		16	32	0	0	0	0.006122	0	16	32				
ZNF789	285989	broad.mit.edu	37	7	99077308	99077308	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:99077308G>T	ENST00000331410.5	+	3	319	c.49G>T	c.(49-51)Gcg>Tcg	p.A17S	ZNF789_ENST00000493485.1_Missense_Mutation_p.A10S|ZNF789_ENST00000483089.1_Missense_Mutation_p.A10S|ZNF789_ENST00000448667.1_Missense_Mutation_p.A10S|ZNF789_ENST00000379724.3_Missense_Mutation_p.A17S	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A17S(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGAGGATGTGGCGATGTACTT	0.468																																							uc003uqq.1		NA																	1	Substitution - Missense(1)		lung(1)		0						c.(49-51)GCG>TCG		zinc finger protein 789 isoform 1							137.0	120.0	126.0					7																	99077308		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99077308G>T	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.49G>T	7.37:g.99077308G>T	ENSP00000331927:p.Ala17Ser					ZNF789_uc003uqp.2_Missense_Mutation_p.A17S|ZNF789_uc010lfw.1_5'UTR	p.A17S	NM_213603	NP_998768	Q5FWF6	ZN789_HUMAN			3	268	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		17			KRAB.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.49G>T	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054515	0.93793	.	.	ENSG00000198556	ENST00000331410;ENST00000483089;ENST00000448667;ENST00000493485;ENST00000379724	T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02	4.08	3.18	0.36537	Krueppel-associated box (4);	.	.	.	.	T	0.09113	0.0225	M	0.71581	2.175	0.22842	N	0.998666	P;P	0.41624	0.573;0.757	B;P	0.50934	0.361;0.654	T	0.17410	-1.0370	9	0.49607	T	0.09	.	4.3496	0.11150	0.1161:0.0:0.6562:0.2278	.	17;17	Q5FWF6;A6NH61	ZN789_HUMAN;.	S	17;10;10;10;17	ENSP00000331927:A17S;ENSP00000417227:A10S;ENSP00000405206:A10S;ENSP00000419500:A10S;ENSP00000369047:A17S	ENSP00000331927:A17S	A	+	1	0	ZNF789	98915244	0.998000	0.40836	0.944000	0.38274	0.990000	0.78478	3.604000	0.54081	2.219000	0.72066	0.655000	0.94253	GCG		0.468	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		27	44	1	0	1.04121e-07	0.027356	1.24493e-07	27	44				
VPS13B	157680	broad.mit.edu	37	8	100108540	100108540	+	Splice_Site	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr8:100108540G>T	ENST00000358544.2	+	4	403	c.292G>T	c.(292-294)Gat>Tat	p.D98Y	VPS13B_ENST00000355155.1_Splice_Site_p.D98Y|VPS13B_ENST00000357162.2_Splice_Site_p.D98Y|VPS13B_ENST00000441350.2_Splice_Site_p.D98Y|VPS13B_ENST00000395996.1_Splice_Site_p.D98Y|CTD-2340D6.2_ENST00000520844.1_RNA	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	98					protein transport (GO:0015031)			p.D98Y(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ATAAAAATAGGATGACCATGA	0.358																																					Colon(161;2205 2542 7338 31318)	Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(292-294)GAT>TAT		vacuolar protein sorting 13B isoform 5							56.0	59.0	58.0					8																	100108540		2203	4300	6503	SO:0001630	splice_region_variant	157680				protein transport			g.chr8:100108540G>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.292-1G>T	8.37:g.100108540G>T						VPS13B_uc003yiw.2_Missense_Mutation_p.D98Y|VPS13B_uc003yit.2_Missense_Mutation_p.D98Y|VPS13B_uc003yiu.1_Missense_Mutation_p.D98Y|VPS13B_uc003yis.2_Missense_Mutation_p.D98Y|VPS13B_uc011lgy.1_5'UTR	p.D98Y	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		4	403	+	Breast(36;3.73e-07)		98					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.292G>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608305	0.66558	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.96	5.96	0.96718	.	0.059436	0.64402	D	0.000007	T	0.67335	0.2882	N	0.00237	-1.79	0.80722	D	1	P;P;B;P;B	0.49783	0.731;0.928;0.064;0.731;0.008	B;P;B;B;B	0.60886	0.444;0.88;0.047;0.444;0.009	T	0.76737	-0.2849	9	.	.	.	.	20.4192	0.99033	0.0:0.0:1.0:0.0	.	98;98;98;98;98	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	98	ENSP00000347281:D98Y;ENSP00000349685:D98Y;ENSP00000351346:D98Y;ENSP00000379318:D98Y;ENSP00000398472:D98Y	.	D	+	1	0	VPS13B	100177716	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.695000	0.91298	2.831000	0.97527	0.650000	0.86243	GAT		0.358	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	Missense_Mutation	28	50	1	0	1.06801e-11	0.009535	1.38206e-11	28	50				
RNF19A	25897	broad.mit.edu	37	8	101271232	101271232	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr8:101271232C>A	ENST00000519449.1	-	11	2385	c.2069G>T	c.(2068-2070)aGa>aTa	p.R690I	RNF19A_ENST00000523255.1_5'Flank|RNF19A_ENST00000341084.2_Missense_Mutation_p.R690I	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	690	Interaction with CASR.				microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CATGTCCTCTCTCGTCTCATT	0.423											OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																											uc003yjj.1		NA																	0				ovary(2)|central_nervous_system(1)|skin(1)	4						c.(2068-2070)AGA>ATA		ring finger protein 19							306.0	262.0	277.0					8																	101271232		2203	4300	6503	SO:0001583	missense	25897				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding	g.chr8:101271232C>A	AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.2069G>T	8.37:g.101271232C>A	ENSP00000428968:p.Arg690Ile		OREG0018897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1357	RNF19A_uc003yjk.1_Missense_Mutation_p.R690I	p.R690I	NM_015435	NP_056250	Q9NV58	RN19A_HUMAN	Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)		11	2386	-	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		690			Interaction with CASR.		A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Missense_Mutation	SNP	ENST00000519449.1	37	c.2069G>T	CCDS6286.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.862120	0.71949	.	.	ENSG00000034677	ENST00000519449;ENST00000341084	D;D	0.85861	-2.04;-2.04	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.85864	0.5796	L	0.54323	1.7	0.80722	D	1	P	0.50617	0.937	P	0.44990	0.466	D	0.87083	0.2167	10	0.72032	D	0.01	.	19.8612	0.96785	0.0:1.0:0.0:0.0	.	690	Q9NV58	RN19A_HUMAN	I	690	ENSP00000428968:R690I;ENSP00000342667:R690I	ENSP00000342667:R690I	R	-	2	0	RNF19A	101340408	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.294000	0.78760	2.788000	0.95919	0.585000	0.79938	AGA		0.423	RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435		74	95	1	0	1.10782e-18	0.01441	1.71634e-18	74	95				
RIMS2	9699	broad.mit.edu	37	8	104928660	104928660	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr8:104928660G>T	ENST00000436393.2	+	6	1506	c.1265G>T	c.(1264-1266)tGg>tTg	p.W422L	RIMS2_ENST00000507740.1_Missense_Mutation_p.W452L|RIMS2_ENST00000406091.3_Missense_Mutation_p.W644L|RIMS2_ENST00000262231.10_Missense_Mutation_p.W499L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	722					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.W452L(2)|p.W727L(1)|p.W644L(1)|p.W422L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTATTAGAATGGAATGGAAGA	0.353										HNSCC(12;0.0054)																													uc003yls.2		NA																	5	Substitution - Missense(5)		lung(5)	ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(1264-1266)TGG>TTG		regulating synaptic membrane exocytosis 2							99.0	90.0	92.0					8																	104928660		1848	4093	5941	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104928660G>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1265G>T	8.37:g.104928660G>T	ENSP00000390665:p.Trp422Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.W644L|RIMS2_uc003ylw.2_Missense_Mutation_p.W452L|RIMS2_uc003ylq.2_Missense_Mutation_p.W452L|RIMS2_uc003ylr.2_Missense_Mutation_p.W499L|RIMS2_uc003ylt.2_Missense_Mutation_p.W45L|RIMS2_uc003ylu.1_Missense_Mutation_p.W35L|RIMS2_uc003ylv.1_Missense_Mutation_p.W35L	p.W422L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		6	1506	+			722			PDZ.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.1265G>T		.	.	.	.	.	.	.	.	.	.	G	29.0	4.965195	0.92855	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86	5.69	5.69	0.88448	PDZ/DHR/GLGF (4);	.	.	.	.	T	0.51890	0.1701	M	0.62154	1.92	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.996;0.998	D;D;D;D;D;D	0.91635	0.999;0.998;0.999;0.996;0.987;0.983	T	0.50651	-0.8803	9	0.87932	D	0	.	19.8102	0.96543	0.0:0.0:1.0:0.0	.	722;722;422;499;452;644	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	L	644;675;644;722;35;452;499;452;452;422	ENSP00000427018:W644L;ENSP00000384892:W644L;ENSP00000425205:W452L;ENSP00000262231:W499L;ENSP00000423559:W452L;ENSP00000386228:W452L;ENSP00000390665:W422L	ENSP00000262231:W499L	W	+	2	0	RIMS2	104997836	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.682000	0.91365	0.585000	0.79938	TGG		0.353	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117		34	45	1	0	2.20474e-14	0.017118	3.19106e-14	34	45				
PTPRD	5789	broad.mit.edu	37	9	8521415	8521415	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr9:8521415C>T	ENST00000381196.4	-	17	1366	c.823G>A	c.(823-825)Gat>Aat	p.D275N	PTPRD_ENST00000356435.5_Missense_Mutation_p.D275N|PTPRD_ENST00000397611.3_Missense_Mutation_p.D272N|PTPRD_ENST00000537002.1_Missense_Mutation_p.D272N|PTPRD_ENST00000360074.4_Missense_Mutation_p.D262N|PTPRD_ENST00000358503.5_Missense_Mutation_p.D262N|PTPRD_ENST00000486161.1_Missense_Mutation_p.D275N|PTPRD_ENST00000355233.5_Missense_Mutation_p.D275N|PTPRD_ENST00000397606.3_Missense_Mutation_p.D265N|PTPRD_ENST00000397617.3_Missense_Mutation_p.D265N|PTPRD_ENST00000540109.1_Missense_Mutation_p.D275N	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	275	Ig-like C2-type 3.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.D275N(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGTGTCAGATCTTCTGCCCCC	0.448										TSP Lung(15;0.13)																													uc003zkk.2		NA																	4	Substitution - Missense(4)		lung(4)	lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1)	22						c.(823-825)GAT>AAT		protein tyrosine phosphatase, receptor type, D							185.0	164.0	171.0					9																	8521415		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8521415C>T	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.823G>A	9.37:g.8521415C>T	ENSP00000370593:p.Asp275Asn	TSP Lung(15;0.13)				PTPRD_uc003zkp.2_Missense_Mutation_p.D275N|PTPRD_uc003zkq.2_Missense_Mutation_p.D275N|PTPRD_uc003zkr.2_Missense_Mutation_p.D269N|PTPRD_uc003zks.2_Missense_Mutation_p.D265N|PTPRD_uc003zkl.2_Missense_Mutation_p.D275N|PTPRD_uc003zkm.2_Missense_Mutation_p.D262N|PTPRD_uc003zkn.2_Missense_Mutation_p.D275N|PTPRD_uc003zko.2_Missense_Mutation_p.D272N	p.D275N	NM_002839	NP_002830	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	19	1534	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	275			Extracellular (Potential).|Ig-like C2-type 3.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.823G>A	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783735	0.90282	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31;-0.31	5.81	4.91	0.64330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81931	0.4927	M	0.78456	2.415	0.80722	D	1	P;P;B;P;P;P;D;D;D	0.69078	0.949;0.52;0.018;0.693;0.9;0.844;0.994;0.997;0.995	P;P;B;P;P;P;P;D;D	0.81914	0.882;0.6;0.04;0.6;0.536;0.729;0.825;0.995;0.964	D	0.83400	0.0022	9	.	.	.	.	16.9321	0.86192	0.0:0.872:0.128:0.0	.	265;269;275;275;272;272;262;275;275	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	N	275;275;262;262;275;265;272;272;275;275;275;265	ENSP00000370593:D275N;ENSP00000348812:D275N;ENSP00000353187:D262N;ENSP00000351293:D262N;ENSP00000347373:D275N;ENSP00000380741:D265N;ENSP00000380735:D272N;ENSP00000440515:D272N;ENSP00000438164:D275N;ENSP00000417093:D275N;ENSP00000380731:D265N	.	D	-	1	0	PTPRD	8511415	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.770000	0.85390	1.449000	0.47699	-0.176000	0.13171	GAT		0.448	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			28	17	0	0	0	0.009535	0	28	17				
PTENP1	11191	broad.mit.edu	37	9	33676271	33676271	+	RNA	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr9:33676271C>T	ENST00000532280.1	-	0	1226					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		CGTCCCTTTCCAGCTTTACAG	0.398																																							uc003zth.3		NA																	0					0						c.(277-279)GGA>AGA		SubName: Full=Phosphatase and tensin homolog 2; Flags: Fragment;																																						11191							g.chr9:33676271C>T	AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676271C>T							p.G93R	NR_023917						1	1148	-									Missense_Mutation	SNP	ENST00000532280.1	37	c.277G>A																																																																																					0.398	PTENP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395145.1	NR_023917		56	27	0	0	0	0.01441	0	56	27				
MAGEC1	9947	broad.mit.edu	37	X	140995628	140995628	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chrX:140995628C>T	ENST00000285879.4	+	4	2724	c.2438C>T	c.(2437-2439)cCt>cTt	p.P813L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	813								p.P813L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCAGAGTCCTGTGAGCTCC	0.547										HNSCC(15;0.026)																													uc004fbt.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|central_nervous_system(1)|skin(1)	4						c.(2437-2439)CCT>CTT		melanoma antigen family C, 1							137.0	144.0	142.0					X																	140995628		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995628C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.2438C>T	X.37:g.140995628C>T	ENSP00000285879:p.Pro813Leu	HNSCC(15;0.026)				MAGEC1_uc010nsl.1_Intron	p.P813L	NM_005462	NP_005453	O60732	MAGC1_HUMAN			4	2724	+	Acute lymphoblastic leukemia(192;6.56e-05)		813					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.2438C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	-	12.80	2.046486	0.36085	.	.	ENSG00000155495	ENST00000285879	T	0.02015	4.5	1.52	1.52	0.23074	.	.	.	.	.	T	0.01940	0.0061	N	0.19112	0.55	0.09310	N	0.999999	B	0.17667	0.023	B	0.13407	0.009	T	0.44283	-0.9338	9	0.54805	T	0.06	.	8.8434	0.35155	0.0:1.0:0.0:0.0	.	813	O60732	MAGC1_HUMAN	L	813	ENSP00000285879:P813L	ENSP00000285879:P813L	P	+	2	0	MAGEC1	140823294	0.148000	0.22702	0.002000	0.10522	0.008000	0.06430	2.384000	0.44362	0.696000	0.31696	0.284000	0.19432	CCT		0.547	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		104	60	0	0	0	0.01441	0	104	60				
ATP6AP1	537	broad.mit.edu	37	X	153662571	153662571	+	Silent	SNP	C	C	T	rs138051216		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chrX:153662571C>T	ENST00000369762.2	+	7	763	c.702C>T	c.(700-702)gcC>gcT	p.A234A	GDI1_ENST00000447750.2_5'Flank|ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	234					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)	p.A234A(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGATGTAGCCGTGGTGGCCG	0.582													C|||	1	0.000264901	0.0	0.0	3775	,	,		14033	0.0		0.001	False		,,,				2504	0.0						uc004flf.1		NA																	1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(700-702)GCC>GCT		ATPase, H+ transporting, lysosomal accessory		C		0,3835		0,0,1632,571	90.0	79.0	83.0		702	2.5	0.0	X	dbSNP_134	83	1,6727		0,1,2427,1872	no	coding-synonymous	ATP6AP1	NM_001183.4		0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095		234/471	153662571	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	537				ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chrX:153662571C>T	D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.702C>T	X.37:g.153662571C>T						ATP6AP1_uc004flg.1_RNA|ATP6AP1_uc004flh.1_Silent_p.A194A|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.3_5'Flank	p.A234A	NM_001183	NP_001174	Q15904	VAS1_HUMAN			7	763	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		234					A6ZKI4|Q8NBT4|Q9H0C7	Silent	SNP	ENST00000369762.2	37	c.702C>T	CCDS35451.1																																																																																				0.582	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081639.4	NM_001183		3	43	0	0	0	0.004672	0	3	43				
SPATA6	54558	broad.mit.edu	37	1	48764544	48764556	+	Frame_Shift_Del	DEL	GCCACGTGGCTGC	GCCACGTGGCTGC	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	GCCACGTGGCTGC	GCCACGTGGCTGC	-	-	GCCACGTGGCTGC	GCCACGTGGCTGC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr1:48764544_48764556delGCCACGTGGCTGC	ENST00000371847.3	-	13	1460_1472	c.1296_1308delGCAGCCACGTGGC	c.(1294-1308)cagcagccacgtggcfs	p.QQPRG432fs	SPATA6_ENST00000371843.3_Frame_Shift_Del_p.QQPRG416fs|SPATA6_ENST00000396199.3_Frame_Shift_Del_p.QQPRG360fs	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	432					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						AATGGAAAGTGCCACGTGGCTGCTGACATGAGC	0.385																																							uc001crr.1		NA																	0				ovary(1)	1						c.(1294-1308)CAGCAGCCACGTGGCfs		spermatogenesis associated 6 precursor																																				SO:0001589	frameshift_variant	54558				cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		g.chr1:48764544_48764556delGCCACGTGGCTGC	AK000869	CCDS551.1, CCDS65535.1, CCDS72787.1	1p32.3	2012-03-15			ENSG00000132122	ENSG00000132122			18309	protein-coding gene	gene with protein product	"""spermatogenesis-related factor-1"""	613947					Standard	XM_005270948		Approved	SRF1, FLJ10007, SRF-1	uc001crr.2	Q9NWH7	OTTHUMG00000007794	ENST00000371847.3:c.1296_1308delGCAGCCACGTGGC	1.37:g.48764544_48764556delGCCACGTGGCTGC	ENSP00000360913:p.Gln432fs					SPATA6_uc001crs.1_Frame_Shift_Del_p.Q416fs|SPATA6_uc010omv.1_Frame_Shift_Del_p.Q418fs	p.Q432fs	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN			13	1461_1473	-			432_436					Q5T3N7|Q8WUE6	Frame_Shift_Del	DEL	ENST00000371847.3	37	c.1296_1308delGCAGCCACGTGGC	CCDS551.1																																																																																				0.385	SPATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021347.1	NM_019073		23	84	NA	NA	NA	NA	NA	23	84	---	---	---	---
MRGPRX1	259249	broad.mit.edu	37	11	18956320	18956320	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr11:18956320delG	ENST00000302797.3	-	1	236	c.12delC	c.(10-12)accfs	p.T4fs	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	4					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTGAGATGGTTGGATCCA	0.512																																							uc001mpg.2		NA																	0				pancreas(2)|central_nervous_system(1)	3						c.(10-12)ACCfs		MAS-related GPR, member X1							259.0	246.0	251.0					11																	18956320		2194	4286	6480	SO:0001589	frameshift_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956320delG		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.12delC	11.37:g.18956320delG	ENSP00000305766:p.Thr4fs						p.T4fs	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			1	230	-			4			Extracellular (Potential).		Q4V9L2|Q8TDD8|Q8TDD9	Frame_Shift_Del	DEL	ENST00000302797.3	37	c.12delC	CCDS7846.1																																																																																				0.512	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		118	191	NA	NA	NA	NA	NA	118	191	---	---	---	---
TLK1	9874	broad.mit.edu	37	2	171854326	171854337	+	Splice_Site	DEL	GTAAATACCTGT	GTAAATACCTGT	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	GTAAATACCTGT	GTAAATACCTGT	-	-	GTAAATACCTGT	GTAAATACCTGT	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr2:171854326_171854337delGTAAATACCTGT	ENST00000431350.2	-	19	2309_2316	c.1905_1912delACAGGTATTTAC	c.(1903-1914)tgacaggtattt>tgtt	p.635_638*QVF>C	TLK1_ENST00000442919.2_Splice_Site_p.587_590*QVF>C|TLK1_ENST00000521943.1_Splice_Site_p.587_590*QVF>C|TLK1_ENST00000360843.3_Splice_Site_p.656_659*QVF>C|TLK1_ENST00000434911.2_Splice_Site_p.539_542*QVF>C			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	635	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CACTCAGGAGGTAAATACCTGTAAGTTTTGTG	0.344																																							uc002ugn.2		NA																	0				central_nervous_system(1)	1						c.e19-1		tousled-like kinase 1 isoform 1																																				SO:0001630	splice_region_variant	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171854326_171854337delGTAAATACCTGT	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1905-1ACAGGTATTTAC>-	2.37:g.171854326_171854337delGTAAATACCTGT						TLK1_uc002ugo.2_Splice_Site_p.W656_splice|TLK1_uc002ugp.2_Splice_Site_p.W587_splice|TLK1_uc002ugq.2_Splice_Site|TLK1_uc010zdn.1_Splice_Site_p.W539_splice	p.W635_splice	NM_012290	NP_036422	Q9UKI8	TLK1_HUMAN			19	2377	-								B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Splice_Site	DEL	ENST00000431350.2	37	c.1905_splice	CCDS2241.1																																																																																				0.344	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290	In_Frame_Del	50	121	NA	NA	NA	NA	NA	50	121	---	---	---	---
ZBED4	9889	broad.mit.edu	37	22	50277679	50277679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr22:50277679delT	ENST00000216268.5	+	2	846	c.369delT	c.(367-369)catfs	p.H123fs		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	123						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CCTGGAAGCATTTTTTTATCT	0.512																																							uc003bix.2		NA																	0				ovary(2)	2						c.(367-369)CATfs		zinc finger, BED-type containing 4							56.0	60.0	59.0					22																	50277679		2203	4300	6503	SO:0001589	frameshift_variant	9889					cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity	g.chr22:50277679delT	AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.369delT	22.37:g.50277679delT	ENSP00000216268:p.His123fs						p.H123fs	NM_014838	NP_055653	O75132	ZBED4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)	2	839	+		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	123			BED-type 1.		B2RZH1|Q1ECU0|Q9UGG8	Frame_Shift_Del	DEL	ENST00000216268.5	37	c.369delT	CCDS33677.1																																																																																				0.512	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317408.2	NM_014838		21	15	NA	NA	NA	NA	NA	21	15	---	---	---	---
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chr7:44684936delT	ENST00000222673.5	+	3	275	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000443864.2_Frame_Shift_Del_p.I78fs|OGDH_ENST00000444676.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000449767.1_Frame_Shift_Del_p.I78fs|OGDH_ENST00000543843.1_Frame_Shift_Del_p.I18fs|OGDH_ENST00000447398.1_Frame_Shift_Del_p.I78fs	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	78					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCATGGGACATTTTTTTTCGC	0.577																																							uc003tln.2		NA																	1	Deletion - Frameshift(1)		breast(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(232-234)ATTfs		oxoglutarate dehydrogenase isoform 1 precursor	NADH(DB00157)						127.0	121.0	123.0					7																	44684936		2203	4300	6503	SO:0001589	frameshift_variant	4967				glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr7:44684936delT	D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.233delT	7.37:g.44684936delT	ENSP00000222673:p.Ile78fs					OGDH_uc003tlm.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.1_Intron|OGDH_uc003tlp.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.1_5'UTR|OGDH_uc003tlo.1_5'UTR	p.I78fs	NM_002541	NP_002532	Q02218	ODO1_HUMAN			3	342	+			78					B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Frame_Shift_Del	DEL	ENST00000222673.5	37	c.233delT	CCDS34627.1																																																																																				0.577	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			7	195	NA	NA	NA	NA	NA	7	195	---	---	---	---
CAPN6	827	broad.mit.edu	37	X	110494814	110494824	+	Frame_Shift_Del	DEL	AGGGGTTTCTC	AGGGGTTTCTC	-	rs372444797		TCGA-50-5932-01A-11D-1753-08	TCGA-50-5932-11A-01D-1753-08	AGGGGTTTCTC	AGGGGTTTCTC	-	-	AGGGGTTTCTC	AGGGGTTTCTC	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	6726c157-f688-491d-8b56-35628645df89	5c91a9d6-124c-4ffe-acf5-ce43a4c2c742	g.chrX:110494814_110494824delAGGGGTTTCTC	ENST00000324068.1	-	6	1013_1023	c.846_856delGAGAAACCCCT	c.(844-858)ctgagaaaccccttgfs	p.LRNPL282fs	CAPN6_ENST00000541758.1_Frame_Shift_Del_p.LRNPL27fs	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	282	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TGTCTTCCCAAGGGGTTTCTCAGGCGAACCA	0.488																																							uc004epc.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1)	6						c.(844-858)CTGAGAAACCCCTTGfs		calpain 6																																				SO:0001589	frameshift_variant	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494814_110494824delAGGGGTTTCTC	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.846_856delGAGAAACCCCT	X.37:g.110494814_110494824delAGGGGTTTCTC	ENSP00000317214:p.Leu282fs					CAPN6_uc011msu.1_Frame_Shift_Del_p.L27fs	p.L282fs	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN			6	1014_1024	-			282_286			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Frame_Shift_Del	DEL	ENST00000324068.1	37	c.846_856delGAGAAACCCCT	CCDS14555.1																																																																																				0.488	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			51	246	NA	NA	NA	NA	NA	51	246	---	---	---	---
