#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GRHL3	57822	broad.mit.edu	37	1	24676595	24676595	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:24676595C>G	ENST00000350501.5	+	15	1804	c.1677C>G	c.(1675-1677)taC>taG	p.Y559*	GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000361548.4_Nonsense_Mutation_p.Y559*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	559					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.Y564*(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACAAAGTCTACAAGAAATGCA	0.498																																						ENST00000361548.4																			1	Substitution - Nonsense(1)	p.Y564*(1)	prostate(1)	breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(1675-1677)taC>taG		grainyhead-like 3 (Drosophila)							79.0	72.0	75.0					1																	24676595		2203	4300	6503	SO:0001587	stop_gained	57822				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr1:24676595C>G	AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1677C>G	1.37:g.24676595C>G	ENSP00000288955:p.Tyr559*					GRHL3_ENST00000236255.4_Nonsense_Mutation_p.Y564*|GRHL3_ENST00000356046.2_Nonsense_Mutation_p.Y513*|GRHL3_ENST00000342072.4_Nonsense_Mutation_p.Y466*|GRHL3_ENST00000350501.5_Nonsense_Mutation_p.Y559*	p.Y559*	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)	15	1907	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	559					A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Nonsense_Mutation	SNP	ENST00000350501.5	37	c.1677C>G	CCDS252.2	.	.	.	.	.	.	.	.	.	.	C	40	8.225976	0.98714	.	.	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	.	.	.	5.08	2.83	0.33086	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.8457	11.4213	0.49982	0.0:0.8231:0.0:0.1769	.	.	.	.	X	559;466;559;513;564	.	ENSP00000236255:Y564X	Y	+	3	2	GRHL3	24549182	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	1.203000	0.32284	1.141000	0.42275	0.484000	0.47621	TAC		0.498	GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180		3	51	3	51	---	---	---	---
RUNX3	864	broad.mit.edu	37	1	25229113	25229113	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:25229113G>A	ENST00000308873.6	-	5	756	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C|RUNX3_ENST00000399916.1_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	250	Pro/Ser/Thr-rich.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R264C(1)|p.R250C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GGGAAGGAGCGGTCAAACTGG	0.637																																						ENST00000399916.1																			2	Substitution - Missense(2)	p.R264C(1)|p.R250C(1)	prostate(2)	endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(790-792)Cgc>Tgc		runt-related transcription factor 3							77.0	74.0	75.0					1																	25229113		2188	4285	6473	SO:0001583	missense	864				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:25229113G>A	BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.748C>T	1.37:g.25229113G>A	ENSP00000308051:p.Arg250Cys					RUNX3_ENST00000338888.3_Missense_Mutation_p.R264C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000308873.6_Missense_Mutation_p.R250C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R157C	p.R264C	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)	6	1228	-		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)	250			Pro/Ser/Thr-rich.		B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	ENST00000308873.6	37	c.790C>T	CCDS257.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.165569	0.78339	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.97161	-4.27;-4.27;-4.27;-3.91	4.27	4.27	0.50696	.	0.231094	0.42682	D	0.000672	D	0.98150	0.9389	M	0.75777	2.31	0.48087	D	0.999582	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.76575	0.954;0.791;0.988	D	0.98521	1.0623	10	0.52906	T	0.07	-21.9039	17.3123	0.87213	0.0:0.0:1.0:0.0	.	197;264;250	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	C	264;250;264;157;197	ENSP00000382800:R264C;ENSP00000308051:R250C;ENSP00000343477:R264C;ENSP00000444872:R157C	ENSP00000308051:R250C	R	-	1	0	RUNX3	25101700	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	8.761000	0.91691	2.395000	0.81488	0.456000	0.33151	CGC		0.637	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009284.1	NM_004350		5	202	5	202	---	---	---	---
MACF1	23499	broad.mit.edu	37	1	39798824	39798824	+	Silent	SNP	A	A	G	rs371929191		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:39798824A>G	ENST00000372915.3	+	36	6666	c.6579A>G	c.(6577-6579)ggA>ggG	p.G2193G	MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Silent_p.G2188G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000289893.4_Silent_p.G628G			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2193					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGAAACTGGAGGATCTCACA	0.358																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(6562-6564)ggA>ggG		microtubule-actin crosslinking factor 1		A	,	0,4406		0,0,2203	46.0	50.0	49.0		,1884	3.6	0.0	1		49	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	MACF1	NM_012090.4,NM_033044.3	,	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	,	,628/5939	39798824	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39798824A>G	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6579A>G	1.37:g.39798824A>G						MACF1_ENST00000289893.4_Silent_p.G628G|MACF1_ENST00000567887.1_Silent_p.G2225G|MACF1_ENST00000372915.3_Silent_p.G2193G|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron	p.G2188G			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		37	7341	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2193					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.6564A>G																																																																																					0.358	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		3	154	3	154	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201061108	201061108	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:201061108C>A	ENST00000362061.3	-	4	759	c.533G>T	c.(532-534)gGg>gTg	p.G178V	CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	178					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.G178V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACTAGGCACCCCCGACACCAG	0.612																																						ENST00000362061.3																			1	Substitution - Missense(1)	p.G178V(1)	prostate(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(532-534)gGg>gTg		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						60.0	59.0	59.0					1																	201061108		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201061108C>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.533G>T	1.37:g.201061108C>A	ENSP00000355192:p.Gly178Val					CACNA1S_ENST00000367338.3_Missense_Mutation_p.G178V	p.G178V	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			4	759	-			178					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.533G>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.170325	0.78452	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98264	-4.83;-4.83	4.48	4.48	0.54585	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98482	0.9494	L	0.56199	1.76	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.99895	1.1144	10	0.87932	D	0	.	17.5103	0.87758	0.0:1.0:0.0:0.0	.	178	Q13698	CAC1S_HUMAN	V	178	ENSP00000355192:G178V;ENSP00000356307:G178V	ENSP00000355192:G178V	G	-	2	0	CACNA1S	199327731	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	7.256000	0.78350	2.198000	0.70561	0.655000	0.94253	GGG		0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		3	69	3	69	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203681221	203681221	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr1:203681221T>C	ENST00000357681.5	+	13	3288	c.2165T>C	c.(2164-2166)tTa>tCa	p.L722S	ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	722					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCCTGTGCTTAGAAGGCAAA	0.547																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(2164-2166)tTa>tCa		ATPase, Ca++ transporting, plasma membrane 4							105.0	99.0	101.0					1																	203681221		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203681221T>C	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2165T>C	1.37:g.203681221T>C	ENSP00000350310:p.Leu722Ser					ATP2B4_ENST00000367219.3_Missense_Mutation_p.L710S|ATP2B4_ENST00000341360.2_Missense_Mutation_p.L722S|ATP2B4_ENST00000367218.3_Missense_Mutation_p.L722S|ATP2B4_ENST00000391954.2_Missense_Mutation_p.L722S	p.L722S	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		13	3288	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		722					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2165T>C	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.870173	0.91587	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42;-4.42	5.58	5.58	0.84498	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.000000	0.41294	D	0.000903	D	0.98820	0.9602	M	0.93375	3.41	0.80722	D	1	D;D;D	0.89917	1.0;0.984;0.999	D;P;D	0.91635	0.999;0.858;0.997	D	0.99741	1.1015	10	0.87932	D	0	-13.6998	15.4121	0.74933	0.0:0.0:0.0:1.0	.	722;722;722	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	S	722;722;710;722;722	ENSP00000350310:L722S;ENSP00000356187:L722S;ENSP00000356188:L710S;ENSP00000375816:L722S;ENSP00000340930:L722S	ENSP00000340930:L722S	L	+	2	0	ATP2B4	201947844	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.940000	0.87693	2.113000	0.64589	0.528000	0.53228	TTA		0.547	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		3	168	3	168	---	---	---	---
TRIM43	129868	broad.mit.edu	37	2	96260870	96260870	+	Missense_Mutation	SNP	G	G	A	rs201221399		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:96260870G>A	ENST00000272395.2	+	3	620	c.484G>A	c.(484-486)Gga>Aga	p.G162R		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	162						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.G162R(2)		breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						ATATGAGGAGGGAAGAACAGC	0.398																																						ENST00000272395.2																			2	Substitution - Missense(2)	p.G162R(2)	lung(2)	breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						c.(484-486)Gga>Aga		tripartite motif containing 43							71.0	67.0	68.0					2																	96260870		2203	4300	6503	SO:0001583	missense	129868					intracellular	zinc ion binding	g.chr2:96260870G>A	BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.484G>A	2.37:g.96260870G>A	ENSP00000272395:p.Gly162Arg						p.G162R	NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN			3	620	+			162					Q53TJ7	Missense_Mutation	SNP	ENST00000272395.2	37	c.484G>A	CCDS2015.1	.	.	.	.	.	.	.	.	.	.	.	0.011	-1.704919	0.00719	.	.	ENSG00000144015	ENST00000272395	T	0.04603	3.59	0.911	-1.82	0.07857	.	.	.	.	.	T	0.01730	0.0055	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40421	-0.9564	9	0.08381	T	0.77	5.3819	2.9369	0.05817	0.51:0.0:0.285:0.205	.	162	Q96BQ3	TRI43_HUMAN	R	162	ENSP00000272395:G162R	ENSP00000272395:G162R	G	+	1	0	TRIM43	95624597	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.758000	0.01810	-2.941000	0.00297	-2.114000	0.00352	GGA		0.398	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252784.1	NM_138800		4	76	4	76	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179659235	179659235	+	Missense_Mutation	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:179659235A>T	ENST00000591111.1	-	8	1513	c.1289T>A	c.(1288-1290)gTt>gAt	p.V430D	TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000589042.1_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D			Q8WZ42	TITIN_HUMAN	titin	0	Ala-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V430D(7)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGGCAGCAACAACAGTCGC	0.458																																						ENST00000589042.1																			7	Substitution - Missense(7)	p.V430D(7)	prostate(7)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(1288-1290)gTt>gAt		titin							144.0	131.0	135.0					2																	179659235		2203	4300	6503	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179659235A>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.1289T>A	2.37:g.179659235A>T	ENSP00000465570:p.Val430Asp					TTN_ENST00000591111.1_Missense_Mutation_p.V430D|TTN_ENST00000359218.5_Missense_Mutation_p.V430D|TTN_ENST00000460472.2_Missense_Mutation_p.V430D|TTN_ENST00000342175.6_Missense_Mutation_p.V430D|TTN_ENST00000342992.6_Missense_Mutation_p.V430D|TTN_ENST00000360870.5_Missense_Mutation_p.V430D	p.V430D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		8	1513	-			430			Ala-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.1289T>A		.	.	.	.	.	.	.	.	.	.	A	15.09	2.729697	0.48833	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870;ENST00000436599	T;T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55;-0.55	5.87	5.87	0.94306	Titin Z (1);Ribonuclease H-like (1);	.	.	.	.	T	0.76615	0.4012	L	0.27053	0.805	0.48901	D	0.999724	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.79797	-0.1652	9	0.87932	D	0	.	15.9548	0.79880	1.0:0.0:0.0:0.0	.	430;430;430;430;430	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	D	430;430;430;430;430;430;26	ENSP00000343764:V430D;ENSP00000434586:V430D;ENSP00000340554:V430D;ENSP00000352154:V430D;ENSP00000354117:V430D;ENSP00000405517:V26D	ENSP00000340554:V430D	V	-	2	0	TTN	179367480	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.175000	0.77632	2.244000	0.73946	0.533000	0.62120	GTT		0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		9	151	9	151	---	---	---	---
PPARG	5468	broad.mit.edu	37	3	12475528	12475528	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr3:12475528A>G	ENST00000287820.6	+	7	1523	c.1402A>G	c.(1402-1404)Aca>Gca	p.T468A	PPARG_ENST00000397026.2_Missense_Mutation_p.T446A|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR	NM_015869.4	NP_056953.2	P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	468	Ligand-binding.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|brown fat cell differentiation (GO:0050873)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|cellular response to lithium ion (GO:0071285)|epithelial cell differentiation (GO:0030855)|fatty acid oxidation (GO:0019395)|G-protein coupled receptor signaling pathway (GO:0007186)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|innate immune response (GO:0045087)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|lipoprotein transport (GO:0042953)|long-chain fatty acid transport (GO:0015909)|low-density lipoprotein particle receptor biosynthetic process (GO:0045713)|monocyte differentiation (GO:0030224)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of cell growth (GO:0030308)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ regeneration (GO:0031100)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|placenta development (GO:0001890)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood pressure (GO:0008217)|regulation of cholesterol transporter activity (GO:0060694)|regulation of transcription involved in cell fate commitment (GO:0060850)|response to caffeine (GO:0031000)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to lipid (GO:0033993)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|response to retinoic acid (GO:0032526)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|arachidonic acid binding (GO:0050544)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|prostaglandin receptor activity (GO:0004955)|retinoid X receptor binding (GO:0046965)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.T468A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Balsalazide(DB01014)|Bezafibrate(DB01393)|Glipizide(DB01067)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Mesalazine(DB00244)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rosiglitazone(DB00412)|Sulfasalazine(DB00795)|Telmisartan(DB00966)	CCAGAAAATGACAGACCTCAG	0.522			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""																															ENST00000397026.2				Dom	yes		3	3p25	5468	T	"""peroxisome proliferative activated receptor, gamma"""	yes	"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""	E	PAX8		follicular thyroid	PAX8/PPARG(117)	1	Substitution - Missense(1)	p.T468A(1)	prostate(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20						c.(1336-1338)Aca>Gca		peroxisome proliferator-activated receptor gamma	Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)						89.0	79.0	83.0					3																	12475528		2203	4300	6503	SO:0001583	missense	5468				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr3:12475528A>G	X90563	CCDS2609.1, CCDS2610.2	3p25	2013-01-16	2006-10-17		ENSG00000132170	ENSG00000132170		"""Nuclear hormone receptors"""	9236	protein-coding gene	gene with protein product		601487	"""peroxisome proliferative activated receptor, gamma"""			7862171, 9750197	Standard	NM_005037		Approved	PPARG1, PPARG2, NR1C3, PPARgamma	uc003bwx.3	P37231	OTTHUMG00000129764	ENST00000287820.6:c.1402A>G	3.37:g.12475528A>G	ENSP00000287820:p.Thr468Ala					PPARG_ENST00000309576.6_Missense_Mutation_p.T440A|PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397010.2_Missense_Mutation_p.T440A|PPARG_ENST00000287820.6_Missense_Mutation_p.T468A|PPARG_ENST00000397015.2_Missense_Mutation_p.T440A|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000397012.2_Missense_Mutation_p.T440A	p.T446A			P37231	PPARG_HUMAN			9	1719	+			468			Ligand-binding.		A8K3G6|B5BUA1|O00684|O00710|O14515|Q0QJH8|Q15178|Q15179|Q15180|Q15832|Q86U60|Q96J12	Missense_Mutation	SNP	ENST00000287820.6	37	c.1336A>G	CCDS2609.1	.	.	.	.	.	.	.	.	.	.	A	9.919	1.211687	0.22289	.	.	ENSG00000132170	ENST00000397010;ENST00000309576;ENST00000397015;ENST00000397012;ENST00000397026;ENST00000287820	T;T;T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46;-0.46;-0.46	5.61	5.61	0.85477	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.54175	0.1842	N	0.11892	0.195	0.80722	D	1	P	0.39903	0.694	P	0.45558	0.485	T	0.52328	-0.8590	10	0.11485	T	0.65	.	15.8526	0.78943	1.0:0.0:0.0:0.0	.	468	P37231	PPARG_HUMAN	A	440;440;440;440;446;468	ENSP00000380205:T440A;ENSP00000312472:T440A;ENSP00000380210:T440A;ENSP00000380207:T440A;ENSP00000380221:T446A;ENSP00000287820:T468A	ENSP00000287820:T468A	T	+	1	0	PPARG	12450528	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.634000	0.54302	2.147000	0.66899	0.529000	0.55759	ACA		0.522	PPARG-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251979.2	NM_005037		3	101	3	101	---	---	---	---
ATG12	9140	broad.mit.edu	37	5	115177236	115177236	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr5:115177236G>A	ENST00000509910.1	-	1	319	c.14C>T	c.(13-15)cCg>cTg	p.P5L	ATG12_ENST00000274459.4_Missense_Mutation_p.P52L|AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000509598.1_5'Flank|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L			O94817	ATG12_HUMAN	autophagy related 12	5					autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804)	Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045)	Atg8 ligase activity (GO:0019776)	p.P52L(1)		endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		CACAGACTGCGGCTCCTCCGC	0.607																																						ENST00000509910.1																			1	Substitution - Missense(1)	p.P52L(1)	prostate(1)	endometrium(2)|kidney(1)|lung(1)|prostate(1)	5						c.(13-15)cCg>cTg		autophagy related 12							76.0	85.0	82.0					5																	115177236		2202	4300	6502	SO:0001583	missense	9140				autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding	g.chr5:115177236G>A	AB017507	CCDS4122.1, CCDS4122.2, CCDS64222.1	5q21-q22	2014-02-12	2012-06-06	2005-09-11	ENSG00000145782	ENSG00000145782			588	protein-coding gene	gene with protein product	"""APG12 autophagy 12-like"""	609608	"""Apg12 (autophagy 12, S. cerevisiae)-like"", ""APG12 autophagy 12-like (S. cerevisiae)"", ""ATG12 autophagy related 12 homolog (S. cerevisiae)"""	APG12L		9852036	Standard	NM_004707		Approved	APG12	uc003krh.3	O94817	OTTHUMG00000128889	ENST00000509910.1:c.14C>T	5.37:g.115177236G>A	ENSP00000425107:p.Pro5Leu					AP3S1_ENST00000316788.7_5'UTR|ATG12_ENST00000500945.2_Missense_Mutation_p.P5L|ATG12_ENST00000274459.4_Missense_Mutation_p.P52L	p.P5L			O94817	ATG12_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)	1	319	-		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	5					Q6PJV2	Missense_Mutation	SNP	ENST00000509910.1	37	c.14C>T	CCDS4122.2	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109715	0.56398	.	.	ENSG00000145782	ENST00000274459;ENST00000509910;ENST00000500945	.	.	.	4.87	2.96	0.34315	.	0.956568	0.08681	N	0.909454	T	0.33644	0.0870	L	0.51422	1.61	0.23661	N	0.99718	D;P	0.58268	0.982;0.553	B;B	0.41723	0.365;0.054	T	0.22138	-1.0225	9	0.87932	D	0	-2.7118	8.8274	0.35063	0.0:0.1546:0.6621:0.1832	.	5;52	O94817;C1IDX9	ATG12_HUMAN;.	L	52;5;5	.	ENSP00000274459:P52L	P	-	2	0	ATG12	115205135	0.000000	0.05858	0.002000	0.10522	0.028000	0.11728	0.361000	0.20267	1.006000	0.39211	-0.274000	0.10170	CCG		0.607	ATG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250851.3	NM_004707		81	92	81	92	---	---	---	---
SUN1	23353	broad.mit.edu	37	7	888226	888226	+	Missense_Mutation	SNP	A	A	G	rs373167190		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:888226A>G	ENST00000456758.2	+	9	1004	c.1004A>G	c.(1003-1005)tAt>tGt	p.Y335C	SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_Missense_Mutation_p.Y25C|SUN1_ENST00000389574.3_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane (GO:0090286)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)	acrosomal membrane (GO:0002080)|integral component of nuclear inner membrane (GO:0005639)|nuclear envelope (GO:0005635)|SUN-KASH complex (GO:0034993)				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCGAAAGCTATAAGTCAAAA	0.328																																						ENST00000456758.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1003-1005)tAt>tGt		Sad1 and UNC84 domain containing 1		A	,,	1,1751		0,1,875	101.0	113.0	110.0		,,	-5.8	0.0	7		110	0,3982		0,0,1991	no	intron,intron,intron	SUN1	NM_001130965.2,NM_001171944.1,NM_025154.5	,,	0,1,2866	GG,GA,AA		0.0,0.0571,0.0174	,,	,,	888226	1,5733	876	1991	2867	SO:0001583	missense	23353				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding	g.chr7:888226A>G	AF202724	CCDS43533.1, CCDS47525.1, CCDS55078.1, CCDS55079.1, CCDS55080.1	7p22.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164828	ENSG00000164828			18587	protein-coding gene	gene with protein product	"""Sad1 unc-84 domain protein 1"""	607723	"""unc-84 homolog A (C. elegans)"""	UNC84A		11593002	Standard	NM_001130965		Approved	KIAA0810, FLJ12407	uc021zym.1	O94901	OTTHUMG00000151426	ENST00000456758.2:c.1004A>G	7.37:g.888226A>G	ENSP00000388743:p.Tyr335Cys					SUN1_ENST00000452783.2_Intron|SUN1_ENST00000401592.1_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron|SUN1_ENST00000413514.2_Missense_Mutation_p.Y25C|SUN1_ENST00000389574.3_Intron	p.Y335C			O94901	SUN1_HUMAN			9	1004	+			0					A5PL20|B3KMV7|B4DZF7|B7WNY4|B7WP53|E9PDU4|E9PF23|F8WD13|Q96CZ7|Q9HA14|Q9UH98	Missense_Mutation	SNP	ENST00000456758.2	37	c.1004A>G		.	.	.	.	.	.	.	.	.	.	A	9.500	1.102856	0.20632	5.71E-4	0.0	ENSG00000164828	ENST00000456758;ENST00000429178;ENST00000413514	T;T;T	0.25579	2.21;1.84;1.79	5.47	-5.76	0.02376	.	.	.	.	.	T	0.13157	0.0319	.	.	.	0.19300	N	0.999974	B;B	0.06786	0.0;0.001	B;B	0.12156	0.007;0.004	T	0.24941	-1.0146	8	0.48119	T	0.1	.	1.4318	0.02335	0.3496:0.103:0.1374:0.4099	.	25;277	E7EP45;O94901-3	.;.	C	335;108;25	ENSP00000388743:Y335C;ENSP00000409909:Y108C;ENSP00000389313:Y25C	ENSP00000389313:Y25C	Y	+	2	0	SUN1	854752	0.009000	0.17119	0.029000	0.17559	0.071000	0.16799	-1.917000	0.01575	-1.998000	0.00968	-1.426000	0.01102	TAT		0.328	SUN1-204	KNOWN	basic	protein_coding	protein_coding		NM_025154		65	154	65	154	---	---	---	---
DLX5	1749	broad.mit.edu	37	7	96653697	96653697	+	Missense_Mutation	SNP	A	A	T	rs149635296	byFrequency	TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr7:96653697A>T	ENST00000222598.4	-	1	712	c.239T>A	c.(238-240)gTg>gAg	p.V80E	DLX5_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	80					anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell proliferation (GO:0008283)|cellular response to BMP stimulus (GO:0071773)|embryonic limb morphogenesis (GO:0030326)|endochondral ossification (GO:0001958)|epithelial cell differentiation (GO:0030855)|face morphogenesis (GO:0060325)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|olfactory pit development (GO:0060166)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation (GO:0050679)|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)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)	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)|transcription regulatory region DNA binding (GO:0044212)	p.V80E(1)		central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GGAGCCGTTCACGCCGTGATA	0.612																																						ENST00000222598.4																			1	Substitution - Missense(1)	p.V80E(1)	prostate(1)	central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20						c.(238-240)gTg>gAg		distal-less homeobox 5							56.0	56.0	56.0					7																	96653697		2203	4300	6503	SO:0001583	missense	1749				cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr7:96653697A>T		CCDS5647.1	7q21.3	2011-06-20	2005-12-22		ENSG00000105880	ENSG00000105880		"""Homeoboxes / ANTP class : NKL subclass"""	2918	protein-coding gene	gene with protein product		600028	"""distal-less homeo box 5"""			7907794	Standard	XM_005250185		Approved		uc003uon.3	P56178	OTTHUMG00000154200	ENST00000222598.4:c.239T>A	7.37:g.96653697A>T	ENSP00000222598:p.Val80Glu					DLX5_ENST00000486603.2_Missense_Mutation_p.V80E|DLX5_ENST00000493764.1_5'UTR	p.V80E	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN			1	712	-	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		80					B7Z4P3|Q9UPL1	Missense_Mutation	SNP	ENST00000222598.4	37	c.239T>A	CCDS5647.1	.	.	.	.	.	.	.	.	.	.	A	18.61	3.661742	0.67700	.	.	ENSG00000105880	ENST00000222598	D	0.89681	-2.55	4.97	3.8	0.43715	.	0.121727	0.56097	D	0.000039	D	0.88858	0.6551	M	0.69823	2.125	0.50632	D	0.999888	P;B	0.35208	0.49;0.185	B;B	0.42319	0.383;0.266	D	0.84875	0.0827	10	0.25751	T	0.34	-10.2441	11.9679	0.53047	0.8548:0.1452:0.0:0.0	.	80;80	B7Z4P3;P56178	.;DLX5_HUMAN	E	80	ENSP00000222598:V80E	ENSP00000222598:V80E	V	-	2	0	DLX5	96491633	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.261000	0.78400	0.895000	0.36342	0.459000	0.35465	GTG		0.612	DLX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334371.2			22	58	22	58	---	---	---	---
RGS20	8601	broad.mit.edu	37	8	54791832	54791832	+	Silent	SNP	A	A	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:54791832A>T	ENST00000297313.3	+	2	272	c.180A>T	c.(178-180)gcA>gcT	p.A60A	RP11-1070A24.2_ENST00000606037.1_RNA|RGS20_ENST00000276500.4_5'Flank|RGS20_ENST00000522225.1_5'Flank|RGS20_ENST00000344277.6_Intron	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	60					positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.A60A(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			TCCCGCCTGCACAGCTCCCAG	0.597																																						ENST00000297313.3																			1	Substitution - coding silent(1)	p.A60A(1)	prostate(1)	breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(178-180)gcA>gcT		regulator of G-protein signaling 20							93.0	116.0	108.0					8																	54791832		2203	4300	6503	SO:0001819	synonymous_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54791832A>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.180A>T	8.37:g.54791832A>T						RGS20_ENST00000344277.6_Intron	p.A60A	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		2	272	+			60					Q96BG9	Silent	SNP	ENST00000297313.3	37	c.180A>T	CCDS6155.1																																																																																				0.597	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			88	166	88	166	---	---	---	---
SULF1	23213	broad.mit.edu	37	8	70498706	70498706	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:70498706A>G	ENST00000260128.4	+	7	1244	c.527A>G	c.(526-528)aAt>aGt	p.N176S	SULF1_ENST00000458141.2_Missense_Mutation_p.N176S|SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	176					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.N176S(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTTTGTCGCAATGGCATCAAA	0.388																																						ENST00000260128.4																			1	Substitution - Missense(1)	p.N176S(1)	prostate(1)	breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(526-528)aAt>aGt		sulfatase 1							119.0	125.0	123.0					8																	70498706		2203	4300	6503	SO:0001583	missense	23213				apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr8:70498706A>G	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.527A>G	8.37:g.70498706A>G	ENSP00000260128:p.Asn176Ser					SULF1_ENST00000402687.4_Missense_Mutation_p.N176S|SULF1_ENST00000419716.3_Missense_Mutation_p.N176S|SULF1_ENST00000458141.2_Missense_Mutation_p.N176S	p.N176S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)		7	1244	+	Breast(64;0.0654)		176					Q86YV8|Q8NCA2|Q9UPS5	Missense_Mutation	SNP	ENST00000260128.4	37	c.527A>G	CCDS6204.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.853020	0.91355	.	.	ENSG00000137573	ENST00000458141;ENST00000260128;ENST00000402687;ENST00000419716	D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95	5.86	5.86	0.93980	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98667	0.9553	M	0.88181	2.935	0.80722	D	1	B	0.25441	0.126	B	0.42422	0.387	D	0.98773	1.0729	10	0.87932	D	0	.	16.2513	0.82489	1.0:0.0:0.0:0.0	.	176	Q8IWU6	SULF1_HUMAN	S	176	ENSP00000403040:N176S;ENSP00000260128:N176S;ENSP00000385704:N176S;ENSP00000390315:N176S	ENSP00000260128:N176S	N	+	2	0	SULF1	70661260	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.310000	0.96267	2.239000	0.73571	0.528000	0.53228	AAT		0.388	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170		16	293	16	293	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94746488	94746488	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:94746488C>G	ENST00000399300.2	-	3	2364	c.2151G>C	c.(2149-2151)caG>caC	p.Q717H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	717							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q717H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTGGGGTGACTGCCTGAAGT	0.627																																						ENST00000399300.2																			1	Substitution - Missense(1)	p.Q717H(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(2149-2151)caG>caC		RNA binding motif protein 12B							98.0	104.0	102.0					8																	94746488		1886	4099	5985	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94746488C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2151G>C	8.37:g.94746488C>G	ENSP00000382239:p.Gln717His					RBM12B_ENST00000517700.1_Intron|RBM12B_ENST00000520961.1_Intron	p.Q717H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2364	-	Breast(36;4.14e-07)		717					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.2151G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244827	0.39697	.	.	ENSG00000183808	ENST00000399300	T	0.07114	3.22	4.66	-7.02	0.01589	.	.	.	.	.	T	0.02888	0.0086	N	0.08118	0	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.41858	-0.9485	9	0.33940	T	0.23	.	2.4121	0.04427	0.4779:0.2201:0.1677:0.1343	.	717	Q8IXT5	RB12B_HUMAN	H	717	ENSP00000382239:Q717H	ENSP00000382239:Q717H	Q	-	3	2	RBM12B	94815664	0.000000	0.05858	0.000000	0.03702	0.710000	0.40934	-4.908000	0.00171	-1.540000	0.01730	-0.309000	0.09137	CAG		0.627	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		145	235	145	235	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124705463	124705463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:124705463G>A	ENST00000419625.1	-	8	688	c.616C>T	c.(616-618)Cga>Tga	p.R206*	ANXA13_ENST00000262219.6_Nonsense_Mutation_p.R247*	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	206					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)	p.R247*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AAGGTGGCTCGTAACTGCTTG	0.448																																						ENST00000262219.6																			1	Substitution - Nonsense(1)	p.R247*(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(739-741)Cga>Tga		annexin A13							190.0	197.0	195.0					8																	124705463		2203	4300	6503	SO:0001587	stop_gained	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124705463G>A	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.616C>T	8.37:g.124705463G>A	ENSP00000390809:p.Arg206*					ANXA13_ENST00000419625.1_Nonsense_Mutation_p.R206*	p.R247*	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	806	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		206					Q9BQR5	Nonsense_Mutation	SNP	ENST00000419625.1	37	c.739C>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376868	0.61735	.	.	ENSG00000104537	ENST00000262219;ENST00000419625	.	.	.	5.41	2.14	0.27477	.	0.621672	0.17778	N	0.162351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.8481	0.57842	0.0:0.0:0.3504:0.6495	.	.	.	.	X	247;206	.	ENSP00000262219:R247X	R	-	1	2	ANXA13	124774644	0.875000	0.30112	0.045000	0.18777	0.261000	0.26267	2.735000	0.47377	0.764000	0.33197	-0.865000	0.03005	CGA		0.448	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		9	404	9	404	---	---	---	---
CYC1	1537	broad.mit.edu	37	8	145150822	145150822	+	Silent	SNP	G	G	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr8:145150822G>A	ENST00000318911.4	+	2	289	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	72					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.A72A(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGGGGTGCGGGGCTGGCCA	0.652											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			2	Substitution - coding silent(2)	p.A72A(2)	prostate(2)	endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(214-216)gcG>gcA		cytochrome c-1							56.0	58.0	58.0					8																	145150822		2203	4298	6501	SO:0001819	synonymous_variant	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145150822G>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.216G>A	8.37:g.145150822G>A			OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.A72A	NM_001916.3	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	289	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		72					Q5U062|Q6FHS7	Silent	SNP	ENST00000318911.4	37	c.216G>A	CCDS6415.1																																																																																				0.652	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		3	67	3	67	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5968943	5968943	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr9:5968943G>T	ENST00000399933.3	-	3	1287	c.1288C>A	c.(1288-1290)Ctt>Att	p.L430I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L430I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	430								p.L430I(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGACCCTTAAGTAGCCACACT	0.383																																						ENST00000399933.3																			1	Substitution - Missense(1)	p.L430I(1)	prostate(1)	breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(1288-1290)Ctt>Att		KIAA2026							32.0	32.0	32.0					9																	5968943		1841	4094	5935	SO:0001583	missense	158358							g.chr9:5968943G>T	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.1288C>A	9.37:g.5968943G>T	ENSP00000382815:p.Leu430Ile					KIAA2026_ENST00000381461.2_Missense_Mutation_p.L430I	p.L430I	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	3	1287	-		Acute lymphoblastic leukemia(23;0.158)	430					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	ENST00000399933.3	37	c.1288C>A		.	.	.	.	.	.	.	.	.	.	G	15.94	2.980615	0.53827	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	D;D;D	0.91464	-2.85;-2.85;-2.85	5.97	5.97	0.96955	.	0.000000	0.38548	U	0.001649	D	0.91036	0.7180	L	0.46741	1.465	0.37960	D	0.932956	P	0.52061	0.95	P	0.55260	0.772	D	0.91732	0.5397	10	0.59425	D	0.04	.	10.7297	0.46089	0.1406:0.0:0.8594:0.0	.	430	Q5HYC2	K2026_HUMAN	I	430;430;363	ENSP00000382815:L430I;ENSP00000370870:L430I;ENSP00000444993:L363I	ENSP00000370870:L430I	L	-	1	0	KIAA2026	5958943	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.454000	0.66651	2.838000	0.97847	0.591000	0.81541	CTT		0.383	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	NM_001017969		5	32	5	32	---	---	---	---
OR52E4	390081	broad.mit.edu	37	11	5905957	5905957	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:5905957C>T	ENST00000316987.2	+	1	457	c.435C>T	c.(433-435)atC>atT	p.I145I		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	145						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I145I(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATCAGTATCCTAGCTTCTG	0.453																																						ENST00000316987.2																			1	Substitution - coding silent(1)	p.I145I(1)	prostate(1)	autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30						c.(433-435)atC>atT		olfactory receptor, family 52, subfamily E, member 4							143.0	126.0	131.0					11																	5905957		2201	4296	6497	SO:0001819	synonymous_variant	390081				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5905957C>T	AB065817	CCDS31401.1	11p15.4	2012-08-09			ENSG00000180974	ENSG00000180974		"""GPCR / Class A : Olfactory receptors"""	15213	protein-coding gene	gene with protein product							Standard	NM_001005165		Approved		uc010qzs.2	Q8NGH9	OTTHUMG00000168804	ENST00000316987.2:c.435C>T	11.37:g.5905957C>T							p.I145I	NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	457	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	145					Q6IFG0	Silent	SNP	ENST00000316987.2	37	c.435C>T	CCDS31401.1																																																																																				0.453	OR52E4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401146.1	NM_001005165		6	256	6	256	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99690380	99690380	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:99690380A>C	ENST00000524871.1	+	4	451	c.161A>C	c.(160-162)tAc>tCc	p.Y54S	CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	54					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.Y54S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGACCACGATACAGCAGCCCT	0.428																																						ENST00000524871.1																			1	Substitution - Missense(1)	p.Y54S(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(160-162)tAc>tCc		contactin 5							113.0	114.0	114.0					11																	99690380		1917	4142	6059	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690380A>C	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.161A>C	11.37:g.99690380A>C	ENSP00000435637:p.Tyr54Ser					CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.Y54S|CNTN5_ENST00000279463.3_Missense_Mutation_p.Y54S|CNTN5_ENST00000528682.1_Missense_Mutation_p.Y54S	p.Y54S	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	451	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	54					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.161A>C	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	6.409	0.443667	0.12164	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.56776	0.44;0.51;0.51;0.51	5.06	-6.3	0.02007	.	0.669254	0.13978	N	0.349692	T	0.24736	0.0600	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.08166	-1.0735	10	0.30078	T	0.28	.	2.4256	0.04459	0.2753:0.2734:0.0658:0.3856	.	54;54	E9PKE8;O94779	.;CNTN5_HUMAN	S	54	ENSP00000433575:Y54S;ENSP00000436185:Y54S;ENSP00000435637:Y54S;ENSP00000279463:Y54S	ENSP00000279463:Y54S	Y	+	2	0	CNTN5	99195590	0.833000	0.29383	0.096000	0.21009	0.283000	0.27025	0.204000	0.17335	-0.837000	0.04223	-0.344000	0.07964	TAC		0.428	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		5	188	5	188	---	---	---	---
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Nonsense_Mutation	SNP	G	G	T	rs267602669		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr11:101946634G>T	ENST00000434758.2	+	5	494	c.466G>T	c.(466-468)Gaa>Taa	p.E156*	C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343																																						ENST00000434758.2																			1	Substitution - Nonsense(1)	p.E118*(1)	prostate(1)	breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(466-468)Gaa>Taa		chromosome 11 open reading frame 70							114.0	113.0	113.0					11																	101946634		2203	4299	6502	SO:0001587	stop_gained	85016							g.chr11:101946634G>T	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.466G>T	11.37:g.101946634G>T	ENSP00000414390:p.Glu156*					C11orf70_ENST00000526781.1_Nonsense_Mutation_p.E156*|C11orf70_ENST00000534360.1_Nonstop_Mutation_p.*100L	p.E156*	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	5	494	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	156					E9PJU1	Nonsense_Mutation	SNP	ENST00000434758.2	37	c.466G>T	CCDS8313.2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	20.9|20.9|20.9	4.060982|4.060982|4.060982	0.76074|0.76074|0.76074	.|.|.	.|.|.	ENSG00000137691|ENSG00000137691|ENSG00000137691	ENST00000434758;ENST00000526781;ENST00000423732|ENST00000529204|ENST00000534360	.|.|.	.|.|.	.|.|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|.|.	0.190145|.|.	0.53938|.|.	D|.|.	0.000046|.|.	.|T|.	.|0.57198|.	.|0.2037|.	.|.|.	.|.|.	.|.|.	0.09310|0.09310|0.09310	N|N|N	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|.	.|0.50874|.	.|-0.8776|.	.|4|.	0.38643|.|.	T|.|.	0.18|.|.	-24.3639|-24.3639|-24.3639	19.8575|19.8575|19.8575	0.96767|0.96767|0.96767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|I|L	156;156;118|47|100	.|.|.	ENSP00000392150:E118X|.|.	E|M|X	+|+|+	1|3|2	0|0|2	C11orf70|C11orf70|C11orf70	101451844|101451844|101451844	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.936000|0.936000|0.936000	0.57629|0.57629|0.57629	4.456000|4.456000|4.456000	0.60081|0.60081|0.60081	2.767000|2.767000|2.767000	0.95098|0.95098|0.95098	0.563000|0.563000|0.563000	0.77884|0.77884|0.77884	GAA|ATG|TGA		0.343	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		17	191	17	191	---	---	---	---
HELB	92797	broad.mit.edu	37	12	66725033	66725033	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:66725033T>C	ENST00000247815.4	+	12	2829	c.2770T>C	c.(2770-2772)Tat>Cat	p.Y924H		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	924					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.Y924H(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CTGCCGAGTGTATGTGATTGC	0.532																																						ENST00000247815.4																			1	Substitution - Missense(1)	p.Y924H(1)	prostate(1)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(2770-2772)Tat>Cat		helicase (DNA) B							46.0	50.0	48.0					12																	66725033		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66725033T>C	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.2770T>C	12.37:g.66725033T>C	ENSP00000247815:p.Tyr924His						p.Y924H	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	12	2829	+			924					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.2770T>C	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.223926	0.79576	.	.	ENSG00000127311	ENST00000247815	T	0.12984	2.63	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000002	T	0.38321	0.1036	M	0.77313	2.365	0.41321	D	0.987179	D	0.89917	1.0	D	0.91635	0.999	T	0.21280	-1.0250	9	.	.	.	-16.5279	13.9382	0.64039	0.0:0.0:0.0:1.0	.	924	Q8NG08	HELB_HUMAN	H	924	ENSP00000247815:Y924H	.	Y	+	1	0	HELB	65011300	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	5.789000	0.69029	2.028000	0.59812	0.459000	0.35465	TAT		0.532	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			43	99	43	99	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78562611	78562611	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:78562611A>G	ENST00000397909.2	+	24	5119	c.4946A>G	c.(4945-4947)cAg>cGg	p.Q1649R	NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R|NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1649						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCGGCTATTCAGGGAGCACTG	0.373										HNSCC(70;0.22)																												ENST00000397909.2																			0				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						c.(4945-4947)cAg>cGg		neuron navigator 3							77.0	79.0	78.0					12																	78562611		1828	4069	5897	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78562611A>G	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4946A>G	12.37:g.78562611A>G	ENSP00000381007:p.Gln1649Arg	HNSCC(70;0.22)				NAV3_ENST00000228327.6_Missense_Mutation_p.Q1649R|NAV3_ENST00000266692.7_Missense_Mutation_p.Q1472R|NAV3_ENST00000536525.2_Missense_Mutation_p.Q1649R	p.Q1649R			Q8IVL0	NAV3_HUMAN			24	5119	+			1649					Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.4946A>G		.	.	.	.	.	.	.	.	.	.	A	23.8	4.462850	0.84425	.	.	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18	5.41	5.41	0.78517	.	0.000000	0.38005	U	0.001858	D	0.91482	0.7311	L	0.61218	1.895	0.80722	D	1	B;B;P;P	0.41848	0.417;0.11;0.736;0.763	B;B;B;B	0.36608	0.142;0.082;0.223;0.229	D	0.92059	0.5655	10	0.54805	T	0.06	-13.8589	15.7378	0.77859	1.0:0.0:0.0:0.0	.	1649;1472;1649;1649	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	R	1649;1649;1649;1472;270;278	ENSP00000446132:Q1649R;ENSP00000381007:Q1649R;ENSP00000228327:Q1649R;ENSP00000266692:Q1472R;ENSP00000448303:Q278R	ENSP00000228327:Q1649R	Q	+	2	0	NAV3	77086742	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.526000	0.81920	2.185000	0.69588	0.528000	0.53228	CAG		0.373	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		3	226	3	226	---	---	---	---
ACSS3	79611	broad.mit.edu	37	12	81647350	81647350	+	Silent	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr12:81647350T>C	ENST00000548058.1	+	15	2806	c.1896T>C	c.(1894-1896)gcT>gcC	p.A632A	ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	632						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						CTGTGGCTGCTTTTCGAAATG	0.433																																						ENST00000548058.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						c.(1894-1896)gcT>gcC		acyl-CoA synthetase short-chain family member 3							99.0	100.0	99.0					12																	81647350		2203	4300	6503	SO:0001819	synonymous_variant	79611					mitochondrion	acetate-CoA ligase activity|ATP binding	g.chr12:81647350T>C		CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.1896T>C	12.37:g.81647350T>C						ACSS3_ENST00000261206.3_Silent_p.A631A|ACSS3_ENST00000548324.1_Silent_p.A314A	p.A632A			Q9H6R3	ACSS3_HUMAN			15	2806	+			632					Q8NC66	Silent	SNP	ENST00000548058.1	37	c.1896T>C	CCDS9022.1																																																																																				0.433	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560		6	207	6	207	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102474613	102474613	+	Silent	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr14:102474613C>A	ENST00000360184.4	+	29	6080	c.5916C>A	c.(5914-5916)tcC>tcA	p.S1972S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1972	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.S1972S(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGGCTGTGTCCCAGCAGGTGC	0.537																																						ENST00000360184.4																			1	Substitution - coding silent(1)	p.S1972S(1)	prostate(1)	NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(5914-5916)tcC>tcA		dynein, cytoplasmic 1, heavy chain 1							66.0	60.0	62.0					14																	102474613		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102474613C>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5916C>A	14.37:g.102474613C>A							p.S1972S	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			29	6080	+			1972			AAA 1 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.5916C>A	CCDS9966.1																																																																																				0.537	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		38	51	38	51	---	---	---	---
TIMM22	29928	broad.mit.edu	37	17	900589	900589	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:900589C>A	ENST00000327158.4	+	1	233	c.207C>A	c.(205-207)tgC>tgA	p.C69*		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	69					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)	p.C69*(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		TGGAAAGCTGCGCTTTCAAGG	0.662																																						ENST00000327158.4																			1	Substitution - Nonsense(1)	p.C69*(1)	prostate(1)	breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(205-207)tgC>tgA		translocase of inner mitochondrial membrane 22 homolog (yeast)							57.0	54.0	55.0					17																	900589		2201	4298	6499	SO:0001587	stop_gained	29928				transmembrane transport	integral to membrane|mitochondrial inner membrane	protein transporter activity	g.chr17:900589C>A	AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.207C>A	17.37:g.900589C>A	ENSP00000320236:p.Cys69*						p.C69*	NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	233	+								Q9NWI8	Nonsense_Mutation	SNP	ENST00000327158.4	37	c.207C>A	CCDS32521.1	.	.	.	.	.	.	.	.	.	.	C	37	6.338194	0.97485	.	.	ENSG00000177370	ENST00000327158	.	.	.	5.61	2.58	0.30949	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.8231	9.0432	0.36329	0.0:0.7142:0.0:0.2858	.	.	.	.	X	69	.	ENSP00000320236:C69X	C	+	3	2	TIMM22	847339	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	0.997000	0.29731	0.308000	0.22923	-0.355000	0.07637	TGC		0.662	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450107.2	NM_013337		3	47	3	47	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5418327	5418327	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:5418327A>G	ENST00000572272.1	-	17	4168	c.4169T>C	c.(4168-4170)aTa>aCa	p.I1390T	NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|RNU7-31P_ENST00000517262.1_RNA|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T|NLRP1_ENST00000345221.3_Missense_Mutation_p.I1346T			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1390	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.I1390T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CACTCGGGCTATCAGCTGCTC	0.582																																						ENST00000345221.3																			1	Substitution - Missense(1)	p.I1390T(1)	prostate(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4036-4038)aTa>aCa		NLR family, pyrin domain containing 1							63.0	67.0	66.0					17																	5418327		2109	4233	6342	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5418327A>G	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4169T>C	17.37:g.5418327A>G	ENSP00000460475:p.Ile1390Thr					NLRP1_ENST00000262467.5_Intron|NLRP1_ENST00000577119.1_Missense_Mutation_p.I1316T|NLRP1_ENST00000572272.1_Missense_Mutation_p.I1390T|NLRP1_ENST00000269280.4_Missense_Mutation_p.I1346T|NLRP1_ENST00000354411.3_Missense_Mutation_p.I1360T	p.I1346T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			16	4591	-		Colorectal(1115;3.48e-05)	1390					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4037T>C	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	A	8.722	0.914490	0.17907	.	.	ENSG00000091592	ENST00000269280;ENST00000354411;ENST00000345221	T;T	0.25250	1.81;1.81	5.07	4.0	0.46444	DEATH-like (2);Caspase Recruitment (2);	0.503974	0.14778	N	0.298930	T	0.27098	0.0664	M	0.64404	1.975	0.09310	N	1	B;B;B;B	0.31625	0.332;0.163;0.196;0.332	B;B;B;B	0.30943	0.075;0.075;0.122;0.075	T	0.20773	-1.0265	10	0.87932	D	0	.	9.1808	0.37141	0.9124:0.0:0.0876:0.0	.	1316;1360;1390;1346	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2	.;.;NALP1_HUMAN;.	T	1390;1360;1346	ENSP00000346390:I1360T;ENSP00000324366:I1346T	ENSP00000269280:I1390T	I	-	2	0	NLRP1	5359051	0.420000	0.25457	0.010000	0.14722	0.190000	0.23558	3.245000	0.51407	0.902000	0.36520	0.529000	0.55759	ATA		0.582	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		3	93	3	93	---	---	---	---
RAB34	83871	broad.mit.edu	37	17	27042839	27042839	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:27042839C>T	ENST00000395245.3	-	4	919	c.293G>A	c.(292-294)gGc>gAc	p.G98D	RAB34_ENST00000395242.2_Missense_Mutation_p.G99D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	98					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					GAAGGGAATGCCCAGCACCTC	0.517																																					Pancreas(175;216 2049 29940 32498 41589)	ENST00000395245.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14						c.(292-294)gGc>gAc		RAB34, member RAS oncogene family							202.0	195.0	197.0					17																	27042839		2203	4300	6503	SO:0001583	missense	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27042839C>T	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.293G>A	17.37:g.27042839C>T	ENSP00000378666:p.Gly98Asp					RAB34_ENST00000447716.1_Missense_Mutation_p.G155D|RAB34_ENST00000415040.2_Missense_Mutation_p.G76D|RAB34_ENST00000450529.1_Missense_Mutation_p.G98D|RAB34_ENST00000301043.6_Missense_Mutation_p.G98D|RAB34_ENST00000453384.3_Missense_Mutation_p.G156D|RAB34_ENST00000436730.3_Missense_Mutation_p.G98D|RAB34_ENST00000395243.3_Missense_Mutation_p.G98D|RAB34_ENST00000395242.2_Missense_Mutation_p.G99D	p.G98D	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN			4	919	-	Lung NSC(42;0.00431)		98					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	ENST00000395245.3	37	c.293G>A	CCDS11240.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.59|14.59	2.582074|2.582074	0.46006|0.46006	.|.	.|.	ENSG00000109113|ENSG00000109113	ENST00000419712|ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.|D;D;D;D;D;D;D;D;D	.|0.82526	.|-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.68|5.68	5.68|5.68	0.88126|0.88126	.|Small GTP-binding protein domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86372|0.86372	0.5917|0.5917	L|L	0.28054|0.28054	0.825|0.825	.|.	.|.	.|.	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.991;1.0;0.965;0.993;1.0	.|D;D;P;D;D;D;D	.|0.97110	.|1.0;1.0;0.86;1.0;0.919;0.914;1.0	D|D	0.87745|0.87745	0.2588|0.2588	4|9	.|0.72032	.|D	.|0.01	-18.566|-18.566	17.2803|17.2803	0.87126|0.87126	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;76;98;121;121;99;98	.|E7ES60;E9PEJ9;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.|.;.;.;.;.;.;RAB34_HUMAN	T|D	119|156;155;98;98;76;121;99;98;121;99;98;98	.|ENSP00000413156:G156D;ENSP00000410403:G155D;ENSP00000301043:G98D;ENSP00000378664:G98D;ENSP00000410279:G76D;ENSP00000378663:G99D;ENSP00000378666:G98D;ENSP00000398706:G98D;ENSP00000226259:G98D	.|ENSP00000301043:G98D	A|G	-|-	1|2	0|0	RAB34|RAB34	24066966|24066966	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.842000|0.842000	0.47809|0.47809	5.703000|5.703000	0.68340|0.68340	2.685000|2.685000	0.91497|0.91497	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.517	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		4	315	4	315	---	---	---	---
KRT25	147183	broad.mit.edu	37	17	38911399	38911399	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:38911399C>A	ENST00000312150.4	-	1	185	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_181534.3	NP_853512.1			keratin 25									p.G42V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GAAGCCACTTCCAATCCCTGA	0.557																																						ENST00000312150.4																			1	Substitution - Missense(1)	p.G42V(1)	prostate(1)	endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16						c.(124-126)gGa>gTa		keratin 25							61.0	59.0	60.0					17																	38911399		2203	4300	6503	SO:0001583	missense	147183					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38911399C>A	AK129503	CCDS11373.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000204897	ENSG00000204897		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30839	protein-coding gene	gene with protein product			"""keratin 25A"""	KRT25A		16831889	Standard	NM_181534		Approved		uc002hve.3	Q7Z3Z0	OTTHUMG00000133373	ENST00000312150.4:c.125G>T	17.37:g.38911399C>A	ENSP00000310573:p.Gly42Val						p.G42V	NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN			1	185	-		Breast(137;0.00526)	42			Gly-rich.|Head.			Missense_Mutation	SNP	ENST00000312150.4	37	c.125G>T	CCDS11373.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.962499	0.53400	.	.	ENSG00000204897	ENST00000394042;ENST00000312150	D	0.85629	-2.01	5.76	5.76	0.90799	.	0.000000	0.64402	D	0.000004	D	0.87744	0.6254	L	0.29908	0.895	0.58432	D	0.999995	D	0.76494	0.999	P	0.61874	0.895	D	0.87527	0.2450	10	0.48119	T	0.1	.	19.5546	0.95338	0.0:1.0:0.0:0.0	.	42	Q7Z3Z0	K1C25_HUMAN	V	42	ENSP00000310573:G42V	ENSP00000310573:G42V	G	-	2	0	KRT25	36164925	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	4.735000	0.62051	2.727000	0.93392	0.655000	0.94253	GGA		0.557	KRT25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257218.1	NM_181534		5	67	5	67	---	---	---	---
HID1	283987	broad.mit.edu	37	17	72949181	72949181	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr17:72949181C>A	ENST00000425042.2	-	16	2049	c.1972G>T	c.(1972-1974)Gag>Tag	p.E658*		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	658					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)		p.E658*(1)									TGGCTGGGCTCCTGGCCCCCA	0.672																																						ENST00000425042.2																			1	Substitution - Nonsense(1)	p.E658*(1)	prostate(1)								c.(1972-1974)Gag>Tag		HID1 domain containing							18.0	16.0	17.0					17																	72949181		2203	4299	6502	SO:0001630	splice_region_variant	283987							g.chr17:72949181C>A		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1972-1G>T	17.37:g.72949181C>A							p.E658*	NM_030630.2	NP_085133.1					16	2049	-								Q8N5L6|Q8TE83|Q9NT34	Splice_Site	SNP	ENST00000425042.2	37	c.1972G>T	CCDS32726.1	.	.	.	.	.	.	.	.	.	.	C	38	7.272381	0.98179	.	.	ENSG00000167861	ENST00000525426;ENST00000425042;ENST00000318565	.	.	.	5.09	5.09	0.68999	.	0.473749	0.22282	N	0.062105	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-27.2514	13.1243	0.59344	0.1604:0.8396:0.0:0.0	.	.	.	.	X	430;658;430	.	ENSP00000317795:E430X	E	-	1	0	C17orf28	70460776	1.000000	0.71417	0.997000	0.53966	0.740000	0.42216	3.194000	0.51005	2.372000	0.80975	0.561000	0.74099	GAG		0.672	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630	Nonsense_Mutation	3	13	3	13	---	---	---	---
ANKRD30B	374860	broad.mit.edu	37	18	14757889	14757889	+	Silent	SNP	C	C	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:14757889C>G	ENST00000358984.4	+	5	873	c.693C>G	c.(691-693)gtC>gtG	p.V231V	ANKRD30B_ENST00000447268.2_Silent_p.V231V|RNU6-1210P_ENST00000363775.1_RNA|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	231								p.V231V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATGTTGACGTCTTTGCTGAAG	0.378																																						ENST00000358984.4																			2	Substitution - coding silent(2)	p.V231V(2)	prostate(2)	breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(691-693)gtC>gtG		ankyrin repeat domain 30B							122.0	98.0	105.0					18																	14757889		692	1591	2283	SO:0001819	synonymous_variant	374860							g.chr18:14757889C>G	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.693C>G	18.37:g.14757889C>G						ANKRD30B_ENST00000447268.2_Silent_p.V231V|ANKRD30B_ENST00000579292.1_Intron	p.V231V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			5	873	+			231					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.693C>G	CCDS54182.1																																																																																				0.378	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		3	65	3	65	---	---	---	---
TTC39C	125488	broad.mit.edu	37	18	21663014	21663014	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr18:21663014T>C	ENST00000317571.3	+	6	1189	c.953T>C	c.(952-954)aTg>aCg	p.M318T	TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	318								p.M257T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						TCCCTCTTTATGTTTTTCAAG	0.398																																						ENST00000317571.3																			1	Substitution - Missense(1)	p.M257T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						c.(952-954)aTg>aCg		tetratricopeptide repeat domain 39C							104.0	106.0	105.0					18																	21663014		2203	4300	6503	SO:0001583	missense	125488						binding	g.chr18:21663014T>C	AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.953T>C	18.37:g.21663014T>C	ENSP00000323645:p.Met318Thr					TTC39C_ENST00000304621.6_Missense_Mutation_p.M257T|RP11-403A21.3_ENST00000578443.1_RNA	p.M318T	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN			6	1189	+			318					B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	ENST00000317571.3	37	c.953T>C	CCDS45839.1	.	.	.	.	.	.	.	.	.	.	T	17.63	3.438218	0.62955	.	.	ENSG00000168234	ENST00000304621;ENST00000317571	T;T	0.75589	-0.95;-0.95	5.8	5.8	0.92144	Tetratricopeptide-like helical (1);	0.034697	0.85682	D	0.000000	T	0.74504	0.3725	L	0.57536	1.79	0.80722	D	1	P	0.36282	0.546	B	0.39027	0.288	T	0.77062	-0.2727	10	0.72032	D	0.01	-18.7183	16.129	0.81412	0.0:0.0:0.0:1.0	.	318	Q8N584	TT39C_HUMAN	T	257;318	ENSP00000306598:M257T;ENSP00000323645:M318T	ENSP00000306598:M257T	M	+	2	0	TTC39C	19917012	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.915000	0.69973	2.209000	0.71365	0.455000	0.32223	ATG		0.398	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446107.1	NM_153211		71	47	71	47	---	---	---	---
LILRB5	10990	broad.mit.edu	37	19	54760066	54760066	+	Silent	SNP	G	G	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr19:54760066G>T	ENST00000316219.5	-	4	602	c.495C>A	c.(493-495)acC>acA	p.T165T	LILRB5_ENST00000449561.2_Silent_p.T165T|LILRB5_ENST00000450632.1_Silent_p.T156T|LILRB5_ENST00000345866.6_Intron	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	165	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)	p.T165T(1)|p.T156T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGAGTACAGGGTCCTGGGGA	0.557																																						ENST00000450632.1																			2	Substitution - coding silent(2)	p.T165T(1)|p.T156T(1)	prostate(2)	NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(466-468)acC>acA		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							61.0	71.0	68.0					19																	54760066		2203	4300	6503	SO:0001819	synonymous_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54760066G>T	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.495C>A	19.37:g.54760066G>T						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Silent_p.T165T|LILRB5_ENST00000449561.2_Silent_p.T165T	p.T156T			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	4	545	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		165			Ig-like C2-type 2.		Q8N760	Silent	SNP	ENST00000316219.5	37	c.468C>A	CCDS12885.1																																																																																				0.557	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			57	105	57	105	---	---	---	---
MMP24	10893	broad.mit.edu	37	20	33839802	33839802	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr20:33839802A>G	ENST00000246186.6	+	3	575	c.490A>G	c.(490-492)Agg>Ggg	p.R164G	MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	164					cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R164G(1)		NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	ACAGAAGTGGAGGCAAAAACA	0.552																																						ENST00000246186.6																			1	Substitution - Missense(1)	p.R164G(1)	prostate(1)	NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14						c.(490-492)Agg>Ggg		matrix metallopeptidase 24 (membrane-inserted)							144.0	152.0	149.0					20																	33839802		2047	4193	6240	SO:0001583	missense	10893				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr20:33839802A>G	AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.490A>G	20.37:g.33839802A>G	ENSP00000246186:p.Arg164Gly					MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EDEM2_ENST00000540582.1_Intron	p.R164G	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		3	575	+			164					B7ZBG8|Q9H440	Missense_Mutation	SNP	ENST00000246186.6	37	c.490A>G	CCDS46593.1	.	.	.	.	.	.	.	.	.	.	A	16.39	3.110402	0.56398	.	.	ENSG00000125966	ENST00000246186;ENST00000540655	T	0.21734	1.99	5.04	3.94	0.45596	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.19167	0.0460	L	0.43598	1.365	0.58432	D	0.999999	B	0.06786	0.001	B	0.15052	0.012	T	0.02837	-1.1104	10	0.51188	T	0.08	.	11.4729	0.50280	0.8493:0.1506:0.0:0.0	.	164	Q9Y5R2	MMP24_HUMAN	G	164;112	ENSP00000246186:R164G	ENSP00000246186:R164G	R	+	1	2	MMP24	33303218	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.539000	0.45718	0.924000	0.37069	0.533000	0.62120	AGG		0.552	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078851.4	NM_006690		4	121	4	121	---	---	---	---
SHROOM2	357	broad.mit.edu	37	X	9912815	9912815	+	Silent	SNP	C	C	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:9912815C>T	ENST00000380913.3	+	9	4536	c.4446C>T	c.(4444-4446)ccC>ccT	p.P1482P	SHROOM2_ENST00000418909.2_Silent_p.P317P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1482	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.P1482P(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCTGCAAGCCCAGCGAGTTTG	0.647																																						ENST00000380913.3																			1	Substitution - coding silent(1)	p.P1482P(1)	prostate(1)	breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4444-4446)ccC>ccT		shroom family member 2							81.0	65.0	70.0					X																	9912815		2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9912815C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4446C>T	X.37:g.9912815C>T						SHROOM2_ENST00000418909.2_Silent_p.P317P	p.P1482P	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			9	4536	+		Hepatocellular(5;0.000888)	1482			ASD2.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.4446C>T	CCDS14135.1																																																																																				0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		3	42	3	42	---	---	---	---
ZMYM3	9203	broad.mit.edu	37	X	70471027	70471027	+	Splice_Site	SNP	C	C	A			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70471027C>A	ENST00000353904.2	-	4	966		c.e4+1		ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373998.1_Splice_Site	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3						cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					ATCCTACTTACTGCTCTCAGT	0.532																																						ENST00000373998.1																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.e4+1		zinc finger, MYM-type 3							143.0	121.0	128.0					X																	70471027		2203	4300	6503	SO:0001630	splice_region_variant	9203				multicellular organismal development	nucleus	DNA binding|zinc ion binding	g.chrX:70471027C>A	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.778+1G>T	X.37:g.70471027C>A						ZMYM3_ENST00000373978.1_Splice_Site|ZMYM3_ENST00000489332.1_Splice_Site|ZMYM3_ENST00000373981.1_Splice_Site|ZMYM3_ENST00000373982.1_Splice_Site|ZMYM3_ENST00000314425.5_Splice_Site|ZMYM3_ENST00000373988.1_Splice_Site|ZMYM3_ENST00000373984.3_Splice_Site|ZMYM3_ENST00000353904.2_Splice_Site		NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN			4	1476	-	Renal(35;0.156)							D3DVV3|O15089|Q96E26	Splice_Site	SNP	ENST00000353904.2	37		CCDS14409.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637565	0.67130	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988;ENST00000373982;ENST00000373981;ENST00000373978	.	.	.	4.6	4.6	0.57074	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7966	0.85603	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZMYM3	70387752	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.844000	0.62846	2.139000	0.66308	0.519000	0.50382	.		0.532	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	Intron	65	15	65	15	---	---	---	---
OGT	8473	broad.mit.edu	37	X	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	rs200109331		TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378																																						ENST00000373719.3																			2	Substitution - Missense(2)	p.N196K(1)|p.N186K(1)	prostate(2)	breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(586-588)aaT>aaG		O-linked N-acetylglucosamine (GlcNAc) transferase							145.0	134.0	138.0					X																	70767813		2203	4300	6503	SO:0001583	missense	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70767813T>G	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.588T>G	X.37:g.70767813T>G	ENSP00000362824:p.Asn196Lys					OGT_ENST00000373701.3_Missense_Mutation_p.N186K	p.N196K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN			5	805	+	Renal(35;0.156)		196					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	c.588T>G	CCDS14414.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	18.16|18.16	3.562560|3.562560	0.65538|0.65538	.|.	.|.	ENSG00000147162|ENSG00000147162	ENST00000455587|ENST00000373719;ENST00000373701	.|T;T	.|0.69306	.|-0.39;-0.39	5.07|5.07	5.07|5.07	0.68467|0.68467	.|Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.77054|0.77054	0.4074|0.4074	M|M	0.62723|0.62723	1.935|1.935	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.98;1.0	.|D;P;D	.|0.97110	.|0.998;0.693;1.0	T|T	0.78094|0.78094	-0.2338|-0.2338	5|10	.|0.56958	.|D	.|0.05	-5.9626|-5.9626	9.2858|9.2858	0.37755|0.37755	0.0:0.0844:0.0:0.9156|0.0:0.0844:0.0:0.9156	.|.	.|70;186;196	.|Q548W1;O15294-3;O15294	.|.;.;OGT1_HUMAN	S|K	156|196;186	.|ENSP00000362824:N196K;ENSP00000362805:N186K	.|ENSP00000362805:N186K	I|N	+|+	2|3	0|2	OGT|OGT	70684538|70684538	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.894000|2.894000	0.48640|0.48640	1.878000|1.878000	0.54408|0.54408	0.478000|0.478000	0.44815|0.44815	ATC|AAT		0.378	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		9	189	9	189	---	---	---	---
MT-ND5	4540	broad.mit.edu	37	M	12957	12957	+	Silent	SNP	T	T	C			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrM:12957T>C	ENST00000361567.2	+	1	621	c.621T>C	c.(619-621)aaT>aaC	p.N207N	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	207					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CTAAACGCTAATCCAAGCCTC	0.522																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(619-621)aaT>aaC		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:12957T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.621T>C	M.37:g.12957T>C							p.N207N			P03915	NU5M_HUMAN			1	621	+			207					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.621T>C																																																																																					0.522	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		12	1	12	1	---	---	---	---
CERS6	253782	broad.mit.edu	37	2	169417720	169417720	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chr2:169417720delT	ENST00000305747.6	+	3	882	c.295delT	c.(295-297)ttgfs	p.L99fs	CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN	ceramide synthase 6	99					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										TGAAAAGAGATTGGAAGGCCT	0.428																																						ENST00000305747.6																			0											c.(295-297)ttgfs		ceramide synthase 6							132.0	130.0	131.0					2																	169417720		2203	4300	6503	SO:0001589	frameshift_variant	253782					endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	g.chr2:169417720delT	BX393696	CCDS2228.1, CCDS58734.1	2q31	2011-07-11	2011-07-08	2011-07-08	ENSG00000172292	ENSG00000172292		"""Homeoboxes / CERS class"""	23826	protein-coding gene	gene with protein product		615336	"""LAG1 longevity assurance homolog 6 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 6"""	LASS6			Standard	NM_203463		Approved		uc002uec.2	Q6ZMG9	OTTHUMG00000132183	ENST00000305747.6:c.295delT	2.37:g.169417720delT	ENSP00000306579:p.Leu99fs					CERS6_ENST00000392687.4_Frame_Shift_Del_p.L99fs	p.L99fs	NM_203463.2	NP_982288.1	Q6ZMG9	CERS6_HUMAN			3	882	+			99					Q32M63|Q8N617	Frame_Shift_Del	DEL	ENST00000305747.6	37	c.295delT	CCDS2228.1																																																																																				0.428	CERS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255235.2	NM_203463		14	250	14	250	---	---	---	---
GPR64	10149	broad.mit.edu	37	X	19026198	19026199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5741-01A-11D-1576-08	TCGA-CH-5741-10A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1be2ab-1f84-46dc-b166-4d703d0e8ffa	3b14c841-4ca0-49a9-b938-de2ebbea8bdf	g.chrX:19026198_19026199insT	ENST00000379869.3	-	19	1628_1629	c.1465_1466insA	c.(1465-1467)attfs	p.I489fs	GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000379878.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000340581.3_Intron|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	489					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					AGGAAGAGTAATTGTGCCAATA	0.391																																						ENST00000379878.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1417-1419)attfs		G protein-coupled receptor 64																																				SO:0001589	frameshift_variant	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19026198_19026199insT	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1466dupA	X.37:g.19026200_19026200dupT	ENSP00000369198:p.Ile489fs					GPR64_ENST00000379873.2_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357991.3_Frame_Shift_Ins_p.I486fs|GPR64_ENST00000360279.4_Frame_Shift_Ins_p.I467fs|GPR64_ENST00000379869.3_Frame_Shift_Ins_p.I489fs|GPR64_ENST00000357544.3_Frame_Shift_Ins_p.I459fs|GPR64_ENST00000356606.4_Frame_Shift_Ins_p.I475fs|GPR64_ENST00000379876.1_Frame_Shift_Ins_p.I465fs|GPR64_ENST00000354791.3_Frame_Shift_Ins_p.I473fs|GPR64_ENST00000340581.3_Intron	p.I473fs	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN			18	1658_1659	-	Hepatocellular(33;0.183)		489					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Ins	INS	ENST00000379869.3	37	c.1417_1418insA	CCDS43923.1																																																																																				0.391	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			91	23	91	23	---	---	---	---
