#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TENM2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A	rs187245740	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:167420177G>A	ENST00000518659.1	+	5	1215	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000519204.1_Silent_p.A271A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTTGCTGGCGTATTTCATAG	0.537													G|||	3	0.000599042	0.0	0.0	5008	,	,		18729	0.003		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(811-813)gcG>gcA		teneurin transmembrane protein 2							35.0	36.0	36.0					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	57451							g.chr5:167420177G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>A	5.37:g.167420177G>A						TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000518659.1_Silent_p.A392A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000520394.1_Silent_p.A201A	p.A271A							4	931	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.813G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	47	0	0	0	0.184627	0	4	47				
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22.0	27.0	25.0					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		3	62	0	0	0	0.115264	0	3	62				
SZT2	23334	broad.mit.edu	37	1	43912679	43912679	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:43912679G>A	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3042					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGATGCACGTGCACTCGTTCA	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8953-8955)gtG>gtA		seizure threshold 2 homolog (mouse)							138.0	99.0	112.0					1																	43912679		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43912679G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8955G>A	1.37:g.43912679G>A						SZT2_ENST00000372442.1_Silent_p.V2143V	p.V2985V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	8955	+			3042					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8955G>A	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	43	0	0	0	0.217242	0	3	43				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	106	0	0	0	0.217242	0	4	106				
ZNF773	374928	broad.mit.edu	37	19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(523-525)cAt>cGt		zinc finger protein 773							46.0	47.0	47.0					19																	58017987		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017987A>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.524A>G	19.37:g.58017987A>G	ENSP00000282292:p.His175Arg					ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R	p.H175R	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	664	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	175					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.524A>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	5.615	0.298142	0.10622	.	.	ENSG00000152439	ENST00000282292	T	0.15603	2.41	1.81	0.72	0.18214	.	.	.	.	.	T	0.12092	0.0294	L	0.52573	1.65	0.09310	N	1	P;B	0.39282	0.666;0.294	B;B	0.33690	0.168;0.026	T	0.25398	-1.0133	9	0.87932	D	0	.	1.7732	0.03016	0.534:0.0:0.186:0.28	.	174;175	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	R	175	ENSP00000282292:H175R	ENSP00000282292:H175R	H	+	2	0	ZNF773	62709799	0.000000	0.05858	0.003000	0.11579	0.126000	0.20510	-1.361000	0.02597	-0.003000	0.14444	0.260000	0.18958	CAT		0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		7	16	0	0	0	0.335167	0	7	16				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	71	0	0	0	0.150653	0	4	71				
PPP6R3	55291	broad.mit.edu	37	11	68305256	68305256	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:68305256C>A	ENST00000393800.2	+	3	378	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393799.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	42					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGCTCAGAACCGCAAACTTAT	0.368																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(124-126)Cgc>Agc		protein phosphatase 6, regulatory subunit 3							96.0	92.0	94.0					11																	68305256		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68305256C>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.124C>A	11.37:g.68305256C>A	ENSP00000377389:p.Arg42Ser					PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S	p.R42S			Q5H9R7	PP6R3_HUMAN			3	391	+			42					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.124C>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039389	0.93630	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.08	5.08	0.68730	.	0.048468	0.85682	D	0.000000	T	0.57592	0.2064	L	0.39085	1.19	0.80722	D	1	P;P;P;P;D;D	0.67145	0.947;0.767;0.862;0.784;0.973;0.996	P;P;P;B;P;D	0.63192	0.84;0.544;0.82;0.406;0.619;0.912	T	0.52917	-0.8511	9	.	.	.	.	18.6681	0.91499	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	S	42	ENSP00000377388:R42S;ENSP00000377389:R42S;ENSP00000433551:R42S;ENSP00000431415:R42S;ENSP00000265637:R42S;ENSP00000433058:R42S;ENSP00000377390:R42S;ENSP00000265636:R42S;ENSP00000437329:R42S;ENSP00000433565:R42S;ENSP00000432837:R42S	.	R	+	1	0	PPP6R3	68061832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.710000	0.84655	2.654000	0.90174	0.563000	0.77884	CGC		0.368	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		3	58	1	0	0.115264	0.115264	0.122145	3	58				
SEPHS2	22928	broad.mit.edu	37	16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	341					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1021-1023)Att>Gtt		selenophosphate synthetase 2							84.0	78.0	80.0					16																	30456028		1900	4127	6027	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456028T>C	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1021A>G	16.37:g.30456028T>C	ENSP00000418669:p.Ile341Val					SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V|SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V	p.I341V			Q99611	SPS2_HUMAN			1	1474	-			341					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1021A>G		.	.	.	.	.	.	.	.	.	.	T	15.15	2.748105	0.49257	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.16897	2.31;2.31;2.31	4.75	3.64	0.41730	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.64567	1.98	0.80722	D	1	D;P	0.65815	0.995;0.805	D;P	0.70935	0.971;0.608	T	0.03315	-1.1049	10	0.52906	T	0.07	-16.332	10.0363	0.42131	0.0:0.0:0.1699:0.8301	.	341;284	Q99611;F5H8F9	SPS2_HUMAN;.	V	341;284;292;341	ENSP00000418669:I341V;ENSP00000443601:I284V;ENSP00000426234:I341V	ENSP00000390233:I292V	I	-	1	0	SEPHS2	30363529	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.792000	0.85828	0.944000	0.37579	-0.316000	0.08728	ATT		0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	64	0	0	0	0.150653	0	4	64				
ITGAL	3683	broad.mit.edu	37	16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGGAGGACAACTCAGCCACTA	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2731-2733)aaC>aaG		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						199.0	171.0	181.0					16																	30522404		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522404C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2733C>G	16.37:g.30522404C>G	ENSP00000349252:p.Asn911Lys					ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	p.N911K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			24	2913	+			911					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2733C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914074	0.33815	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.54866	0.55;0.55;0.55	5.0	0.192	0.15134	Integrin alpha-2 (1);	0.000000	0.56097	D	0.000033	T	0.65943	0.2740	M	0.76574	2.34	0.41032	D	0.985161	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.999;1.0;0.978	T	0.64931	-0.6291	10	0.66056	D	0.02	.	7.8746	0.29586	0.0:0.5844:0.0:0.4156	.	145;827;911	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	K	911;827;145	ENSP00000349252:N911K;ENSP00000350886:N827K;ENSP00000409377:N145K	ENSP00000349252:N911K	N	+	3	2	ITGAL	30429905	0.061000	0.20836	0.362000	0.25862	0.292000	0.27327	0.079000	0.14782	0.169000	0.19679	0.555000	0.69702	AAC		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			18	163	0	0	0	0.608945	0	18	163				
CCNB1	891	broad.mit.edu	37	5	68470883	68470883	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(883-885)ttT>ttC		cyclin B1							134.0	138.0	137.0					5																	68470883		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470883T>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.885T>C	5.37:g.68470883T>C							p.F295F	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1138	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	295					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.885T>C	CCDS3997.1																																																																																				0.438	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		6	127	0	0	0	0.335167	0	6	127				
SH3GL1	6455	broad.mit.edu	37	19	4366548	4366548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:4366548G>A	ENST00000269886.3	-	3	315	c.137C>T	c.(136-138)gCg>gTg	p.A46V	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V|SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	46	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCTGTCACCGCCTTGCTGGT	0.642			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(136-138)gCg>gTg		SH3-domain GRB2-like 1							56.0	47.0	50.0					19																	4366548		2203	4299	6502	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4366548G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.137C>T	19.37:g.4366548G>A	ENSP00000269886:p.Ala46Val					SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V	p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	3	315	-			46			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.137C>T	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229541	0.79688	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.30182	1.54;1.54	4.35	4.35	0.52113	BAR (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.48877	1.53	0.80722	D	1	P;D;D	0.76494	0.631;0.999;0.999	B;P;P	0.56960	0.27;0.81;0.81	T	0.11591	-1.0581	10	0.19590	T	0.45	-6.1248	15.4235	0.75031	0.0:0.0:1.0:0.0	.	46;46;46	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	V	46	ENSP00000269886:A46V;ENSP00000404568:A46V	ENSP00000269886:A46V	A	-	2	0	SH3GL1	4317548	1.000000	0.71417	0.956000	0.39512	0.952000	0.60782	7.960000	0.87893	1.972000	0.57404	0.561000	0.74099	GCG		0.642	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		3	26	0	0	0	0.115264	0	3	26				
PCDHB10	56126	broad.mit.edu	37	5	140572701	140572701	+	Silent	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(574-576)ccA>ccG									120.0	139.0	132.0					5																	140572701		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572701A>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.576A>G	5.37:g.140572701A>G							p.P192P	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	760	+			192			Cadherin 2.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.576A>G	CCDS4252.1																																																																																				0.502	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		79	174	0	0	0	0.870114	0	79	174				
RYR2	6262	broad.mit.edu	37	1	237796915	237796915	+	Missense_Mutation	SNP	G	G	A	rs375935636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:237796915G>A	ENST00000366574.2	+	43	6910	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H	RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2198	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTGCCGTTTTCTCTGT	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6592-6594)cGt>cAt		ryanodine receptor 2 (cardiac)		G	HIS/ARG	0,3744		0,0,1872	240.0	232.0	235.0		6593	4.9	1.0	1		235	1,8195		0,1,4097	no	missense	RYR2	NM_001035.2	29	0,1,5969	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	2198/4968	237796915	1,11939	1872	4098	5970	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796915G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6593G>A	1.37:g.237796915G>A	ENSP00000355533:p.Arg2198His					RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	p.R2198H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6910	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2198			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6593G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140913	0.94560	0.0	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96396	-4.0;-4.0;-4.0	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000007	D	0.97682	0.9240	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98648	1.0678	10	0.87932	D	0	-9.6234	18.4443	0.90678	0.0:0.0:1.0:0.0	.	2198	Q92736	RYR2_HUMAN	H	2198;2196;2182	ENSP00000355533:R2198H;ENSP00000353174:R2196H;ENSP00000443798:R2182H	ENSP00000353174:R2196H	R	+	2	0	RYR2	235863538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.417000	0.82017	0.563000	0.77884	CGT		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		49	130	0	0	0	0.870114	0	49	130				
PPWD1	23398	broad.mit.edu	37	5	64872761	64872761	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:64872761G>A	ENST00000261308.5	+	6	1097	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q|PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	342					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GAATTTGGCCGACGAATGGCT	0.368																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1024-1026)cGa>cAa		peptidylprolyl isomerase domain and WD repeat containing 1							145.0	149.0	148.0					5																	64872761		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64872761G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1025G>A	5.37:g.64872761G>A	ENSP00000261308:p.Arg342Gln					PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q	p.R342Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	6	1097	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	342					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.1025G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369225	0.95900	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.66460	-0.21;0.02;1.69	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87649	0.2527	10	0.66056	D	0.02	.	19.1275	0.93391	0.0:0.0:1.0:0.0	.	312;342	F5H7P7;Q96BP3	.;PPWD1_HUMAN	Q	342;312;186	ENSP00000261308:R342Q;ENSP00000442371:R312Q;ENSP00000444496:R186Q	ENSP00000261308:R342Q	R	+	2	0	PPWD1	64908517	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.532000	0.85374	0.557000	0.71058	CGA		0.368	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		16	127	0	0	0	0.592651	0	16	127				
C2orf71	388939	broad.mit.edu	37	2	29295352	29295352	+	Silent	SNP	C	C	T	rs201520631		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:29295352C>T	ENST00000331664.5	-	1	1775	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	592					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.T592T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGGACCTCGTCTGCCTCT	0.632																																						ENST00000331664.5																			1	Substitution - coding silent(1)	p.T592T(1)	endometrium(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1774-1776)acG>acA		chromosome 2 open reading frame 71							36.0	39.0	38.0					2																	29295352		2069	4224	6293	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295352C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1776G>A	2.37:g.29295352C>T							p.T592T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1775	-			592						Silent	SNP	ENST00000331664.5	37	c.1776G>A	CCDS42669.1																																																																																				0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		9	61	0	0	0	0.361761	0	9	61				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			6	47	1	0	0.000274275	0.307466	0.000314089	6	47				
ADCY9	115	broad.mit.edu	37	16	4042212	4042212	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:4042212C>T	ENST00000294016.3	-	5	2680	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACCTCAGCGGAAGGAGAG	0.537																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2140-2142)ccG>ccA		adenylate cyclase 9							103.0	92.0	96.0					16																	4042212		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042212C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2142G>A	16.37:g.4042212C>T						ADCY9_ENST00000571889.1_5'UTR	p.P714P	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			5	2680	-			714					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.2142G>A	CCDS32382.1																																																																																				0.537	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	91	0	0	0	0.184627	0	4	91				
GIMAP1	170575	broad.mit.edu	37	7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	100	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(298-300)gAg>gCg		GTPase, IMAP family member 1							51.0	46.0	48.0					7																	150417391		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417391A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.299A>C	7.37:g.150417391A>C	ENSP00000302833:p.Glu100Ala						p.E100A	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	439	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.299A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658249	0.47467	.	.	ENSG00000213203	ENST00000307194	T	0.08634	3.07	4.72	0.906	0.19314	AIG1 (1);	0.357678	0.24769	U	0.035755	T	0.18509	0.0444	M	0.88310	2.945	0.09310	N	1	P	0.38642	0.641	P	0.48488	0.579	T	0.10636	-1.0621	10	0.56958	D	0.05	.	3.07	0.06227	0.6256:0.0:0.1971:0.1773	.	100	Q8WWP7	GIMA1_HUMAN	A	100	ENSP00000302833:E100A	ENSP00000302833:E100A	E	+	2	0	GIMAP1	150048324	0.098000	0.21812	0.000000	0.03702	0.009000	0.06853	2.713000	0.47194	0.010000	0.14839	-0.290000	0.09829	GAG		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		8	70	0	0	0	0.307466	0	8	70				
CFAP43	80217	broad.mit.edu	37	10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCATCAGAATACTCCAGTACT	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4372-4374)Tat>Cat		WD repeat domain 96							86.0	83.0	84.0					10																	105900659		2203	4299	6502	SO:0001583	missense	80217							g.chr10:105900659A>G																												ENST00000357060.3:c.4372T>C	10.37:g.105900659A>G	ENSP00000349568:p.Tyr1458His					WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H|WDR96_ENST00000479392.1_5'UTR	p.Y1458H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			34	4487	-			1458						Missense_Mutation	SNP	ENST00000357060.3	37	c.4372T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682901	0.47991	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.18016	2.24;2.31	5.44	5.44	0.79542	.	0.136179	0.51477	D	0.000088	T	0.36552	0.0971	M	0.69823	2.125	0.20638	N	0.999875	P;D	0.64830	0.937;0.994	P;P	0.61132	0.71;0.884	T	0.21655	-1.0239	10	0.39692	T	0.17	.	13.7265	0.62761	1.0:0.0:0.0:0.0	.	1430;1458	G5E9L1;Q8NDM7	.;WDR96_HUMAN	H	1458;1430	ENSP00000349568:Y1458H;ENSP00000400289:Y1430H	ENSP00000349568:Y1458H	Y	-	1	0	WDR96	105890649	0.999000	0.42202	0.276000	0.24689	0.363000	0.29612	6.833000	0.75334	2.069000	0.61940	0.533000	0.62120	TAT		0.318	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	29	0	0	0	0.457914	0	12	29				
ACKR2	1238	broad.mit.edu	37	3	42906720	42906720	+	Silent	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	ACKR2_ENST00000273145.2_Silent_p.P242P|ACKR2_ENST00000442925.1_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	242					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCTGAGGCCCGCAGGCCAGG	0.537																																						ENST00000422265.1																			0											c.(724-726)ccC>ccA		atypical chemokine receptor 2							112.0	113.0	113.0					3																	42906720		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906720C>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.726C>A	3.37:g.42906720C>A						ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron|ACKR2_ENST00000273145.2_Silent_p.P242P	p.P242P	NM_001296.4	NP_001287.2					3	901	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.726C>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		4	167	1	0	0.184627	0.184627	0.192773	4	167				
RBFOX1	54715	broad.mit.edu	37	16	7703830	7703830	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:7703830G>A	ENST00000550418.1	+	12	1759	c.771G>A	c.(769-771)ccG>ccA	p.P257P	RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000355637.4_Silent_p.P277P|RBFOX1_ENST00000340209.4_Silent_p.P262P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000547372.1_Silent_p.P300P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000436368.2_Silent_p.P277P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGGCTTCCCGTATCCAGCAG	0.701																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(784-786)ccG>ccA		RNA binding protein, fox-1 homolog (C. elegans) 1							14.0	18.0	17.0					16																	7703830		1823	3800	5623	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703830G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.771G>A	16.37:g.7703830G>A						RBFOX1_ENST00000547372.1_Silent_p.P300P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000550418.1_Silent_p.P257P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000436368.2_Silent_p.P277P|RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000355637.4_Silent_p.P277P	p.P262P			Q9NWB1	RFOX1_HUMAN			9	1083	+			257					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.786G>A	CCDS55983.1																																																																																				0.701	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		4	47	0	0	0	0.217242	0	4	47				
CRYBG3	131544	broad.mit.edu	37	3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2638							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2068-2070)tGc>tCc		beta-gamma crystallin domain containing 3							88.0	84.0	85.0					3																	97618049		1817	4086	5903	SO:0001583	missense	131544							g.chr3:97618049G>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2069G>C	3.37:g.97618049G>C	ENSP00000182096:p.Cys690Ser						p.C690S	NM_153605.3	NP_705833.3					11	2133	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2069G>C		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588472	0.13812	.	.	ENSG00000080200	ENST00000182096	T	0.73152	-0.72	5.86	5.86	0.93980	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.108692	0.41712	D	0.000825	T	0.54549	0.1865	N	0.13327	0.33	0.80722	D	1	B	0.21071	0.051	B	0.23852	0.049	T	0.52771	-0.8531	10	0.06757	T	0.87	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	690	Q68DQ2	CRBG3_HUMAN	S	690	ENSP00000182096:C690S	ENSP00000182096:C690S	C	+	2	0	CRYBG3	99100739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.774000	0.95407	0.585000	0.79938	TGC		0.358	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		25	50	0	0	0	0.717897	0	25	50				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	157	0	0	0	0.150653	0	3	157				
TMEM139	135932	broad.mit.edu	37	7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577																																						ENST00000359333.3																			0				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7						c.(337-339)cCc>cTc		transmembrane protein 139							73.0	78.0	76.0					7																	142983609		2203	4300	6503	SO:0001583	missense	135932					integral to membrane		g.chr7:142983609C>T	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.338C>T	7.37:g.142983609C>T	ENSP00000352284:p.Pro113Leu					TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000471161.1_3'UTR|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA|AC073342.12_ENST00000427392.1_RNA	p.P113L	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN			3	851	+	Melanoma(164;0.059)		113					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	c.338C>T	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584833	0.65992	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	5.1	0.69264	.	0.304164	0.29034	N	0.013348	T	0.66416	0.2787	L	0.46157	1.445	0.48452	D	0.99965	D	0.57257	0.979	P	0.59487	0.858	T	0.68689	-0.5342	9	0.72032	D	0.01	-4.26	14.4444	0.67340	0.0:1.0:0.0:0.0	.	113	Q8IV31	TM139_HUMAN	L	113	.	ENSP00000352284:P113L	P	+	2	0	TMEM139	142693731	0.729000	0.28090	0.978000	0.43139	0.533000	0.34776	3.769000	0.55303	2.567000	0.86603	0.558000	0.71614	CCC		0.577	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		50	100	0	0	0	0.870114	0	50	100				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053124	85053124	+	RNA	SNP	G	G	T	rs192508624	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr15:85053124G>T	ENST00000414190.2	-	0	328					NR_003246.2																						TAAATGTTTTGTTTTTTTTTT	0.353																																						ENST00000414190.2																			0																																																			0							g.chr15:85053124G>T																													15.37:g.85053124G>T								NR_003246.2						0	328	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.353	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			4	11	1	0	5.9392e-07	0.217242	6.91284e-07	4	11				
KRT78	196374	broad.mit.edu	37	12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:53238345T>G	ENST00000304620.4	-	5	982	c.919A>C	c.(919-921)Aag>Cag	p.K307Q	KRT78_ENST00000359499.4_Missense_Mutation_p.K197Q	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(589-591)Aag>Cag		keratin 78							114.0	90.0	98.0					12																	53238345		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238345T>G	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.919A>C	12.37:g.53238345T>G	ENSP00000306261:p.Lys307Gln					KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q	p.K197Q			Q8N1N4	K2C78_HUMAN			5	600	-			307			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.589A>C	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052793	0.55218	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.90732	-2.72;-2.72	5.07	3.91	0.45181	Filament (1);	.	.	.	.	D	0.92506	0.7620	M	0.78637	2.42	0.31897	N	0.616503	P	0.48834	0.916	P	0.51974	0.686	D	0.91999	0.5609	9	0.66056	D	0.02	.	10.0599	0.42268	0.0:0.0:0.1693:0.8307	.	307	Q8N1N4	K2C78_HUMAN	Q	197;307;78	ENSP00000352479:K197Q;ENSP00000306261:K307Q	ENSP00000306261:K307Q	K	-	1	0	KRT78	51524612	0.994000	0.37717	0.997000	0.53966	0.107000	0.19398	2.292000	0.43549	0.857000	0.35407	0.460000	0.39030	AAG		0.617	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		35	111	0	0	0	0.853193	0	35	111				
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:27806651T>G	ENST00000396980.3	+	1	212	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.F71C	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(211-213)tTc>tGc		histone cluster 1, H2bn							160.0	148.0	152.0					6																	27806651		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806651T>G	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.212T>G	6.37:g.27806651T>G	ENSP00000380177:p.Phe71Cys					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C	p.F71C			Q99877	H2B1N_HUMAN			1	273	+			71					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.212T>G	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293229	0.60086	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.70282	-0.47;-0.47	4.71	3.57	0.40892	Histone-fold (2);Histone core (1);	0.000000	0.32204	U	0.006433	D	0.86847	0.6031	H	0.98818	4.34	0.32050	N	0.597031	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86101	0.1556	10	0.87932	D	0	.	9.5472	0.39288	0.0:0.0854:0.0:0.9146	.	71;71	Q99877;B2R4S9	H2B1N_HUMAN;.	C	71	ENSP00000446031:F71C;ENSP00000380177:F71C	ENSP00000380177:F71C	F	+	2	0	HIST1H2BN	27914630	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.514000	0.81750	2.052000	0.61016	0.529000	0.55759	TTC		0.607	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		81	168	0	0	0	0.870114	0	81	168				
PCDH15	65217	broad.mit.edu	37	10	55587260	55587260	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587260G>C	ENST00000320301.6	-	32	4654	c.4260C>G	c.(4258-4260)ccC>ccG	p.P1420P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Silent_p.P1427P|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTAGCCGCGGGTAATGCGG	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)ccC>ccG		protocadherin-related 15							82.0	86.0	84.0					10																	55587260		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587260G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4260C>G	10.37:g.55587260G>C		HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000320301.6_Silent_p.P1420P|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	p.P1427P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4675	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4281C>G	CCDS7248.1																																																																																				0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		27	87	0	0	0	0.760397	0	27	87				
GIT2	9815	broad.mit.edu	37	12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr12:110383093G>T	ENST00000355312.3	-	16	1702	c.1703C>A	c.(1702-1704)tCc>tAc	p.S568Y	GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S518Y	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	568					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1552-1554)tCc>tAc		G protein-coupled receptor kinase interacting ArfGAP 2							63.0	58.0	60.0					12																	110383093		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110383093G>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1703C>A	12.37:g.110383093G>T	ENSP00000347464:p.Ser568Tyr					GIT2_ENST00000457474.2_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000356259.4_Intron	p.S518Y			Q14161	GIT2_HUMAN			15	1717	-			568					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1553C>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801988	0.31869	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000338373;ENST00000551209	T;T;T;T	0.74315	-0.74;-0.8;-0.64;-0.83	5.82	4.91	0.64330	.	0.100313	0.64402	D	0.000001	T	0.69052	0.3068	L	0.34521	1.04	0.80722	D	1	B	0.33477	0.413	B	0.38296	0.27	T	0.69628	-0.5094	10	0.51188	T	0.08	.	15.8711	0.79119	0.0:0.1357:0.8643:0.0	.	568	Q14161	GIT2_HUMAN	Y	568;518;470;517	ENSP00000347464:S568Y;ENSP00000353312:S518Y;ENSP00000340342:S470Y;ENSP00000448832:S517Y	ENSP00000340342:S470Y	S	-	2	0	GIT2	108867476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.412000	0.59787	1.421000	0.47157	0.655000	0.94253	TCC		0.547	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		14	25	1	0	4.7546e-09	0.500413	5.62628e-09	14	25				
CCDC88A	55704	broad.mit.edu	37	2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(745-747)Ctg>Gtg		coiled-coil domain containing 88A							131.0	114.0	120.0					2																	55582770		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55582770G>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.745C>G	2.37:g.55582770G>C	ENSP00000410608:p.Leu249Val					CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			8	1586	-			249					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.745C>G		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709257	0.68615	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.05	2.22	0.28083	.	0.000000	0.38058	U	0.001822	T	0.79936	0.4532	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.999	D;D;D	0.87578	0.951;0.997;0.998	T	0.78127	-0.2325	10	0.51188	T	0.08	-5.5733	9.1172	0.36764	0.3656:0.0:0.6344:0.0	.	249;249;249	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	249	ENSP00000338728:L249V;ENSP00000263630:L249V;ENSP00000410608:L249V;ENSP00000404431:L249V	ENSP00000263630:L249V	L	-	1	2	CCDC88A	55436274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.530000	0.45641	0.656000	0.30886	0.591000	0.81541	CTG		0.463	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		34	53	0	0	0	0.847076	0	34	53				
SEMA4C	54910	broad.mit.edu	37	2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	285	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(853-855)Tgc>Cgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							57.0	60.0	59.0					2																	97530551		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97530551A>G	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.853T>C	2.37:g.97530551A>G	ENSP00000306844:p.Cys285Arg						p.C285R	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			9	985	-			285			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.853T>C	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865120	0.71949	.	.	ENSG00000168758	ENST00000305476	D	0.95482	-3.72	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	.	15.433	0.75116	1.0:0.0:0.0:0.0	.	285	Q9C0C4	SEM4C_HUMAN	R	285	ENSP00000306844:C285R	ENSP00000306844:C285R	C	-	1	0	SEMA4C	96894278	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	7.407000	0.80029	2.288000	0.76882	0.533000	0.62120	TGC		0.632	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		4	61	0	0	0	0.150653	0	4	61				
CDHR2	54825	broad.mit.edu	37	5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1035	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3103-3105)aCc>aAc		cadherin-related family member 2							109.0	103.0	105.0					5																	176016426		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016426C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3104C>A	5.37:g.176016426C>A	ENSP00000424565:p.Thr1035Asn					CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			23	3378	+			1035			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3104C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	0.312	-0.967429	0.02232	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	4.99	-4.75	0.03239	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21590	0.0520	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.14656	T	0.56	2.2306	3.8667	0.09019	0.2994:0.4592:0.1306:0.1107	.	1035	Q9BYE9	CDHR2_HUMAN	N	1035	ENSP00000424565:T1035N;ENSP00000261944:T1035N;ENSP00000421078:T1035N	ENSP00000261944:T1035N	T	+	2	0	CDHR2	175949032	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.113000	0.10774	-1.200000	0.02662	-0.408000	0.06270	ACC		0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	111	1	0	0.00116845	0.217242	0.00129624	6	111				
IPO13	9670	broad.mit.edu	37	1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	198					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCGGTGGAATGTGGGGCTGT	0.622																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(592-594)Tgt>Ggt		importin 13							15.0	17.0	16.0					1																	44415596		2203	4297	6500	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415596T>G	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.592T>G	1.37:g.44415596T>G	ENSP00000361418:p.Cys198Gly						p.C198G	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1254	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	198					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.592T>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232759	0.22626	.	.	ENSG00000117408	ENST00000372343	T	0.41065	1.01	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.043845	0.85682	D	0.000000	T	0.30541	0.0768	N	0.19112	0.55	0.80722	D	1	B	0.24483	0.104	B	0.25759	0.063	T	0.07673	-1.0760	10	0.25751	T	0.34	-4.7048	15.5348	0.75993	0.0:0.0:0.0:1.0	.	198	O94829	IPO13_HUMAN	G	198	ENSP00000361418:C198G	ENSP00000361418:C198G	C	+	1	0	IPO13	44188183	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.015000	0.70791	2.088000	0.63022	0.402000	0.26972	TGT		0.622	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		3	16	0	0	0	0.150653	0	3	16				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	85	0	0	0	0.115264	0	3	85				
FRYL	285527	broad.mit.edu	37	4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:48551612C>T	ENST00000503238.1	-	36	4661	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*			O94915	FRYL_HUMAN	FRY-like	1554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4660-4662)tgG>tgA		FRY-like							122.0	118.0	119.0					4																	48551612		1955	4138	6093	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48551612C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4662G>A	4.37:g.48551612C>T	ENSP00000426064:p.Trp1554*					FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*	p.W1554*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			39	5266	-			1554					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.4662G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.037719|15.037719	0.99820|0.99820	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72269|.	0.3439|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67074|.	-0.5762|.	4|.	.|0.29301	.|T	.|0.29	.|.	19.5353|19.5353	0.95251|0.95251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	425|1554	.|.	.|ENSP00000351113:W1554X	A|W	-|-	1|3	0|0	FRYL|FRYL	48246369|48246369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.461000|7.461000	0.80834|0.80834	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|TGG		0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			28	53	0	0	0	0.750413	0	28	53				
KIF20A	10112	broad.mit.edu	37	5	137520549	137520549	+	Silent	SNP	G	G	A	rs114549959		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23024	0.0		0.0	False		,,,				2504	0.0					ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1735-1737)caG>caA		kinesin family member 20A							126.0	127.0	127.0					5																	137520549		2203	4300	6503	SO:0001819	synonymous_variant	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520549G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1737G>A	5.37:g.137520549G>A						KIF20A_ENST00000508792.1_Silent_p.Q561Q	p.Q579Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	1963	+			579					B4DL79|D3DQB6	Silent	SNP	ENST00000394894.3	37	c.1737G>A	CCDS4199.1																																																																																				0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	88	0	0	0	0.812448	0	33	88				
WDR24	84219	broad.mit.edu	37	16	734790	734790	+	Missense_Mutation	SNP	G	G	C	rs375205983		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr16:734790G>C	ENST00000248142.6	-	13	2706	c.2707C>G	c.(2707-2709)Ctg>Gtg	p.L903V	JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.L773V|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	903										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCCTTCCAGCCACTTCATG	0.677																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(2317-2319)Ctg>Gtg		WD repeat domain 24							18.0	15.0	16.0					16																	734790		2166	4265	6431	SO:0001583	missense	84219							g.chr16:734790G>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2707C>G	16.37:g.734790G>C	ENSP00000248142:p.Leu903Val					WDR24_ENST00000248142.6_Missense_Mutation_p.L903V	p.L773V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			9	3076	-		Hepatocellular(780;0.0218)	903					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.2317C>G		.	.	.	.	.	.	.	.	.	.	g	8.938	0.965087	0.18583	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77229	-1.08;0.32	4.77	1.58	0.23477	.	0.000000	0.64402	D	0.000001	T	0.72993	0.3530	M	0.77486	2.375	0.49213	D	0.999763	P	0.45957	0.869	B	0.39068	0.289	T	0.70200	-0.4937	10	0.54805	T	0.06	-22.8641	8.1088	0.30903	0.3701:0.0:0.6299:0.0	.	773	Q96S15-2	.	V	903;773	ENSP00000248142:L903V;ENSP00000293883:L773V	ENSP00000248142:L903V	L	-	1	2	WDR24	674791	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.970000	0.49240	0.184000	0.20083	-0.435000	0.05868	CTG		0.677	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		3	9	0	0	0	0.115264	0	3	9				
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:43355879G>A	ENST00000372868.2	+	5	1027	c.684G>A	c.(682-684)caG>caA	p.Q228Q	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|WISP2_ENST00000372865.4_Missense_Mutation_p.S146N|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	228	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672																																						ENST00000372865.4																			0				skin(1)	1						c.(436-438)aGc>aAc		WNT1 inducible signaling pathway protein 2							31.0	33.0	32.0					20																	43355879		2203	4300	6503	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355879G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.684G>A	20.37:g.43355879G>A						RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372868.2_Silent_p.Q228Q|WISP2_ENST00000190983.4_Silent_p.Q228Q	p.S146N			O76076	WISP2_HUMAN			3	945	+		Myeloproliferative disorder(115;0.0122)	142			VWFC.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.437G>A	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175015	0.38413	.	.	ENSG00000064205	ENST00000372865	T	0.67523	-0.27	4.05	0.67	0.17923	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.52726	-0.8537	8	0.87932	D	0	-45.6268	8.428	0.32739	0.3721:0.0:0.6279:0.0	.	146	Q6PEG3	.	N	146	ENSP00000361956:S146N	ENSP00000361956:S146N	S	+	2	0	WISP2	42789293	0.972000	0.33761	0.915000	0.36163	0.643000	0.38383	1.614000	0.36911	0.348000	0.23949	0.561000	0.74099	AGC		0.672	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		16	27	0	0	0	0.557998	0	16	27				
PDGFRL	5157	broad.mit.edu	37	8	17447026	17447026	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	35					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(103-105)gaG>gaA		platelet-derived growth factor receptor-like							143.0	145.0	144.0					8																	17447026		2203	4300	6503	SO:0001819	synonymous_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447026G>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.105G>A	8.37:g.17447026G>A						PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	550	+			35					A8K085|Q6FH04	Silent	SNP	ENST00000541323.1	37	c.105G>A	CCDS6003.1																																																																																				0.433	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		16	161	0	0	0	0.520397	0	16	161				
PRDM14	63978	broad.mit.edu	37	8	70978696	70978696	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)ggA>ggG		PR domain containing 14							114.0	115.0	114.0					8																	70978696		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978696T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.957A>G	8.37:g.70978696T>C							p.G319G	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1158	-	Breast(64;0.193)		319			SET.		Q86UX9	Silent	SNP	ENST00000276594.2	37	c.957A>G	CCDS6206.1																																																																																				0.403	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			3	181	0	0	0	0.115264	0	3	181				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	81	0	0	0	0.115264	0	3	81				
PCDH15	65217	broad.mit.edu	37	10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:55587261G>T	ENST00000320301.6	-	32	4653	c.4259C>A	c.(4258-4260)cCc>cAc	p.P1420H	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)cCc>cAc		protocadherin-related 15							83.0	87.0	85.0					10																	55587261		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587261G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4259C>A	10.37:g.55587261G>T	ENSP00000322604:p.Pro1420His	HNSCC(58;0.16)				PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	p.P1427H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4674	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4280C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898039	0.72639	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;D	0.81821	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;-1.54	5.5	5.5	0.81552	.	.	.	.	.	D	0.85186	0.5639	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.999;0.998;0.999;0.998;0.998;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79784	0.95;0.95;0.95;0.95;0.993;0.95;0.95;0.94;0.935;0.935;0.959;0.968;0.95	D	0.86486	0.1794	9	0.87932	D	0	.	17.5349	0.87827	0.0:0.0:1.0:0.0	.	1395;1420;1420;1425;1349;1380;1417;1420;1427;1427;1420;1422;1420	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1427;1422;1420;1420;1031;1427;1380;1420;1395;1420;1417;1425;1349	ENSP00000363076:P1427H;ENSP00000410304:P1422H;ENSP00000378826:P1420H;ENSP00000386693:P1031H;ENSP00000378832:P1427H;ENSP00000378820:P1380H;ENSP00000354950:P1420H;ENSP00000378821:P1395H;ENSP00000322604:P1420H;ENSP00000378818:P1417H;ENSP00000412628:P1349H	ENSP00000322604:P1420H	P	-	2	0	PCDH15	55257267	1.000000	0.71417	0.071000	0.20095	0.417000	0.31264	8.670000	0.91168	2.739000	0.93911	0.491000	0.48974	CCC		0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	85	1	0	6.00712e-18	0.760397	7.22891e-18	28	85				
ZNF217	7764	broad.mit.edu	37	20	52198352	52198352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	338					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1012-1014)aaG>aaA		zinc finger protein 217							125.0	127.0	126.0					20																	52198352		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198352C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1014G>A	20.37:g.52198352C>T						ZNF217_ENST00000302342.3_Silent_p.K338K	p.K338K			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1439	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		338					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1014G>A	CCDS13443.1																																																																																				0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		14	112	0	0	0	0.539581	0	14	112				
CSMD3	114788	broad.mit.edu	37	8	113249577	113249577	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10469T>C	c.(10468-10470)gTt>gCt	p.V3490A	CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e67-1		CUB and Sushi multiple domains 3							95.0	90.0	92.0					8																	113249577		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113249577A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10469-1T>C	8.37:g.113249577A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice	p.V3490_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			67	10713	-			3490					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10468_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614423	0.28712	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34472	1.68;1.67;1.74;1.36;1.73	4.77	4.77	0.60923	.	0.088428	0.45126	D	0.000386	T	0.57710	0.2072	M	0.71206	2.165	0.49051	D	0.999746	D;D;B	0.67145	0.996;0.995;0.175	D;D;B	0.72625	0.941;0.978;0.084	T	0.59172	-0.7504	10	0.44086	T	0.13	.	14.4524	0.67394	1.0:0.0:0.0:0.0	.	3321;3490;3450	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3450;3490;2760;3321;3420	ENSP00000345799:V3450A;ENSP00000297405:V3490A;ENSP00000341558:V2760A;ENSP00000412263:V3321A;ENSP00000343124:V3420A	ENSP00000297405:V3490A	V	-	2	0	CSMD3	113318753	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	9.109000	0.94291	1.996000	0.58369	0.383000	0.25322	GTT		0.284	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	5	43	0	0	0	0.217242	0	5	43				
ACCS	84680	broad.mit.edu	37	11	44100335	44100335	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			2	Unknown(2)	p.?(2)	lung(2)	breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.e9+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							58.0	48.0	51.0					11																	44100335		2203	4300	6503	SO:0001630	splice_region_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44100335G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.833+1G>T	11.37:g.44100335G>T								NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			9	1267	+								B4E219|Q8WUL4|Q96LX5	Splice_Site	SNP	ENST00000263776.8	37		CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431736	0.83776	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.679	0.88237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCS	44056911	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.594000	0.90836	2.695000	0.91970	0.655000	0.94253	.		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	Intron	11	27	1	0	0.00136819	0.411799	0.00149449	11	27				
ZNF761	388561	broad.mit.edu	37	19	53958879	53958879	+	RNA	SNP	A	A	G	rs543658141		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr19:53958879A>G	ENST00000454407.1	+	0	1571							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCATAGACTTCAT	0.428													N|||	1	0.000199681	0.0	0.0	5008	,	,		23718	0.0		0.0	False		,,,				2504	0.001					ENST00000454407.1																			0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761							165.0	164.0	164.0					19																	53958879		2203	4300	6503			388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53958879A>G	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958879A>G										Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	1571	+								Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.428	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		NM_001008401		5	254	0	0	0	0.217242	0	5	254				
TOPORS	10210	broad.mit.edu	37	9	32543932	32543932	+	Silent	SNP	A	A	C	rs546261326		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	197	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(589-591)ggT>ggG		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							121.0	107.0	112.0					9																	32543932		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543932A>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.591T>G	9.37:g.32543932A>C						TOPORS_ENST00000379858.1_Silent_p.G132G	p.G197G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	707	-			197			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.591T>G	CCDS6527.1																																																																																				0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	58	0	0	0	0.335167	0	7	58				
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	rs199759636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GACGGCGGGCCGGGCACTGCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14464	0.0		0.0	False		,,,				2504	0.001					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(151-153)cCg>cTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						134.0	131.0	132.0					4																	111397722		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397722C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.152C>T	4.37:g.111397722C>T	ENSP00000265162:p.Pro51Leu						p.P51L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	494	+		Hepatocellular(203;0.217)	51					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.152C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990802	0.18966	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	4.8	-1.22	0.09494	.	1.690290	0.03521	N	0.221057	T	0.01353	0.0044	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.50197	-0.8856	10	0.20046	T	0.44	.	13.9422	0.64062	0.4785:0.5215:0.0:0.0	.	51	Q07075	AMPE_HUMAN	L	51	ENSP00000265162:P51L	ENSP00000265162:P51L	P	+	2	0	ENPEP	111617171	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-0.457000	0.07033	0.313000	0.20887	CCG		0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			4	149	0	0	0	0.150653	0	4	149				
ZC3H12D	340152	broad.mit.edu	37	6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149773804G>T	ENST00000409806.3	-	5	1053	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	245					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(733-735)ttC>ttA		zinc finger CCCH-type containing 12D							35.0	41.0	39.0					6																	149773804		1914	4116	6030	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773804G>T			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.735C>A	6.37:g.149773804G>T	ENSP00000386616:p.Phe245Leu					ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L	p.F245L			A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	982	-		Ovarian(120;0.0907)	245					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.735C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.249753|4.249753	0.80024|0.80024	.|.	.|.	ENSG00000178199|ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614|ENST00000458251	T;T;T;T|.	0.44482|.	0.92;1.2;0.92;1.27|.	4.6|4.6	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47210|0.47210	0.1433|0.1433	L|L	0.61036|0.61036	1.89|1.89	0.39714|0.39714	D|D	0.971373|0.971373	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.97|.	T|T	0.46830|0.46830	-0.9163|-0.9163	10|5	0.87932|.	D|.	0|.	-20.3148|-20.3148	7.5599|7.5599	0.27845|0.27845	0.3585:0.0:0.6415:0.0|0.3585:0.0:0.6415:0.0	.|.	245;245|.	A2A288;B7WNU7|.	ZC12D_HUMAN;.|.	L|T	245|87	ENSP00000374592:F245L;ENSP00000408686:F245L;ENSP00000386616:F245L;ENSP00000440813:F245L|.	ENSP00000374592:F245L|.	F|P	-|-	3|1	2|0	ZC3H12D|ZC3H12D	149815497|149815497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.344000|1.344000	0.33941|0.33941	1.095000|1.095000	0.41419|0.41419	0.561000|0.561000	0.74099|0.74099	TTC|CCT		0.612	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		4	15	1	0	0.0293803	0.248553	0.0316061	4	15				
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041					ENST00000306687.1																			2	Substitution - Missense(2)	p.T267M(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(799-801)aCg>aTg		olfactory receptor, family 2, subfamily M, member 4		T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403030C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met						p.T267M	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	800	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		267					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.800C>T	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		12	93	0	0	0	0.435327	0	12	93				
UST	10090	broad.mit.edu	37	6	149262511	149262511	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:149262511G>A	ENST00000367463.4	+	3	491	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGAAGCACGGATTTAATTT	0.433																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(388-390)Gga>Aga		uronyl-2-sulfotransferase							195.0	179.0	184.0					6																	149262511		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149262511G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.388G>A	6.37:g.149262511G>A	ENSP00000356433:p.Gly130Arg						p.G130R	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	3	491	+		Ovarian(120;0.0907)	130					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.388G>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669523	0.67814	.	.	ENSG00000111962	ENST00000367463	T	0.47177	0.85	5.85	5.85	0.93711	.	0.109140	0.64402	D	0.000004	T	0.38746	0.1052	L	0.45285	1.41	0.54753	D	0.999988	P	0.39831	0.69	B	0.43889	0.435	T	0.09707	-1.0662	10	0.32370	T	0.25	-17.9166	20.1588	0.98128	0.0:0.0:1.0:0.0	.	130	Q9Y2C2	UST_HUMAN	R	130	ENSP00000356433:G130R	ENSP00000356433:G130R	G	+	1	0	UST	149304204	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.789000	0.62446	2.770000	0.95276	0.563000	0.77884	GGA		0.433	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		56	136	0	0	0	0.870114	0	56	136				
PLCD3	113026	broad.mit.edu	37	17	43209630	43209630	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:43209630C>T	ENST00000322765.5	-	1	261	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	ACBD4_ENST00000591859.1_5'Flank|PLCD3_ENST00000540511.1_5'UTR|ACBD4_ENST00000431281.1_5'Flank	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	50					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TTCTTCAGCGCCCGCAGCCCG	0.741																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(148-150)Gcg>Acg		phospholipase C, delta 3	Phosphatidylserine(DB00144)						4.0	5.0	5.0					17																	43209630		1756	3941	5697	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43209630C>T	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.148G>A	17.37:g.43209630C>T	ENSP00000313731:p.Ala50Thr					PLCD3_ENST00000540511.1_5'UTR	p.A50T	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			1	261	-			50					Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753774	0.49362	.	.	ENSG00000161714	ENST00000322765	T	0.19105	2.17	3.95	3.95	0.45737	.	2.000530	0.02902	U	0.135485	T	0.15003	0.0362	.	.	.	0.32758	N	0.505499	B	0.27498	0.18	B	0.24155	0.051	T	0.12708	-1.0537	9	0.14252	T	0.57	.	11.5011	0.50437	0.0:1.0:0.0:0.0	.	50	Q8N3E9	PLCD3_HUMAN	T	50	ENSP00000313731:A50T	ENSP00000313731:A50T	A	-	1	0	PLCD3	40565156	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	2.269000	0.43346	1.746000	0.51805	0.442000	0.29010	GCG		0.741	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	14	0	0	0	0.184627	0	3	14				
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143				TPTE2P6_ENST00000440905.1_RNA																							CATCTCTGTACGATGATGTGA	0.358																																						ENST00000453498.1																			0																																																			0							g.chr13:25168471C>T																													13.37:g.25168471C>T														0	1143	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.358	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	46	0	0	0	0.248553	0	4	46				
SPATA16	83893	broad.mit.edu	37	3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(76-78)aAc>aGc		spermatogenesis associated 16							234.0	217.0	222.0					3																	172835445		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835445T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.77A>G	3.37:g.172835445T>C	ENSP00000341765:p.Asn26Ser						p.N26S	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	260	-	Ovarian(172;0.00319)|Breast(254;0.197)		26					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.77A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215686	0.58452	.	.	ENSG00000144962	ENST00000351008	T	0.16897	2.31	5.02	5.02	0.67125	.	0.113678	0.40222	N	0.001157	T	0.13243	0.0321	L	0.27053	0.805	0.30859	N	0.733733	B	0.28636	0.218	B	0.25291	0.059	T	0.06752	-1.0809	10	0.59425	D	0.04	-8.3627	13.1337	0.59397	0.0:0.0:0.0:1.0	.	26	Q9BXB7	SPT16_HUMAN	S	26	ENSP00000341765:N26S	ENSP00000341765:N26S	N	-	2	0	SPATA16	174318139	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	3.042000	0.49815	2.096000	0.63516	0.528000	0.53228	AAC		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	198	0	0	0	0.278610	0	7	198				
DNAH5	1767	broad.mit.edu	37	5	13735947	13735947	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3850					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11548-11550)ttA>ttG		dynein, axonemal, heavy chain 5							126.0	118.0	120.0					5																	13735947		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735947T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11550A>G	5.37:g.13735947T>C							p.L3850L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			67	11654	-	Lung NSC(4;0.00476)		3850					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11550A>G	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	142	0	0	0	0.307466	0	6	142				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			0							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	93	0	0	0	0.278610	0	5	93				
CENPE	1062	broad.mit.edu	37	4	104041395	104041395	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2413	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7237-7239)gtG>gtA		centromere protein E, 312kDa							184.0	154.0	164.0					4																	104041395		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041395C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7239G>A	4.37:g.104041395C>T						CENPE_ENST00000380026.3_Silent_p.V2292V	p.V2413V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7328	-			2413			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.7239G>A	CCDS34042.1																																																																																				0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	18	0	0	0	0.184627	0	5	18				
BCR	613	broad.mit.edu	37	22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGAGCATCTACGTCGGGGGC	0.657			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(847-849)tAc>tGc		breakpoint cluster region							21.0	25.0	24.0					22																	23523995		2202	4297	6499	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523995A>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.848A>G	22.37:g.23523995A>G	ENSP00000303507:p.Tyr283Cys					BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			1	1599	+			283			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.848A>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759921	0.69763	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.61158	1.05;0.97;0.13	4.67	3.55	0.40652	.	0.232289	0.36703	N	0.002452	T	0.66723	0.2818	L	0.52573	1.65	0.47659	D	0.999482	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.924	T	0.68534	-0.5383	10	0.87932	D	0	.	8.4853	0.33067	0.8273:0.0:0.0:0.1727	.	283;283	P11274-2;P11274	.;BCR_HUMAN	C	283	ENSP00000303507:Y283C;ENSP00000352535:Y283C;ENSP00000381524:Y283C	ENSP00000290956:Y283C	Y	+	2	0	BCR	21853995	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	5.126000	0.64721	1.876000	0.54355	0.455000	0.32223	TAC		0.657	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		8	36	0	0	0	0.361761	0	8	36				
ATP6V0B	533	broad.mit.edu	37	1	44442867	44442867	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:44442867G>C	ENST00000472174.2	+	7	963	c.570G>C	c.(568-570)ggG>ggC	p.G190G	B4GALT2_ENST00000356836.6_5'Flank|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000532642.1_Silent_p.G190G|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000236067.4_Silent_p.G143G	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	190					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(568-570)ggG>ggC		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							83.0	87.0	86.0					1																	44442867		2203	4300	6503	SO:0001819	synonymous_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442867G>C	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.570G>C	1.37:g.44442867G>C						ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000236067.4_Silent_p.G143G	p.G190G			Q99437	VATO_HUMAN			7	667	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	190					D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	c.570G>C	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057577	0.19907	.	.	ENSG00000117410	ENST00000440531	.	.	.	5.1	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57136	-0.7863	6	0.87932	D	0	-7.1888	4.056	0.09816	0.0763:0.1333:0.3821:0.4083	.	.	.	.	A	32	.	ENSP00000408413:G32A	G	+	2	0	ATP6V0B	44215454	0.057000	0.20700	1.000000	0.80357	0.999000	0.98932	-0.623000	0.05546	0.470000	0.27294	0.655000	0.94253	GGG		0.557	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		26	82	0	0	0	0.740014	0	26	82				
UGT2B7	7364	broad.mit.edu	37	4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	366					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTAGGTCATCCAAAGACCAG	0.418																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B7							87.0	89.0	88.0					4																	69973826		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973826C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1096C>A	4.37:g.69973826C>A	ENSP00000304811:p.Pro366Thr					UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	p.P366T	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			5	1142	+			366					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1096C>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720781	0.30503	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.68479	-0.33;-0.33	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000001	T	0.80854	0.4703	H	0.96048	3.76	0.80722	D	1	P	0.45986	0.87	P	0.50049	0.629	D	0.86013	0.1502	9	.	.	.	.	11.1821	0.48633	0.0:1.0:0.0:0.0	.	366	P16662	UD2B7_HUMAN	T	117;366	ENSP00000426206:P117T;ENSP00000304811:P366T	.	P	+	1	0	UGT2B7	70008415	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.053000	0.57427	1.516000	0.48900	0.491000	0.48974	CCA		0.418	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		23	82	1	0	3.73988e-18	0.706142	4.57813e-18	23	82				
TENM2	57451	broad.mit.edu	37	5	167420177	167420177	+	Silent	SNP	G	G	A	rs187245740	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:167420177G>A	ENST00000518659.1	+	5	1215	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000545108.1_Silent_p.A392A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000519204.1_Silent_p.A271A	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	392					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										TTTTGCTGGCGTATTTCATAG	0.537													G|||	3	0.000599042	0.0	0.0	5008	,	,		18729	0.003		0.0	False		,,,				2504	0.0					ENST00000519204.1																			0											c.(811-813)gcG>gcA		teneurin transmembrane protein 2							35.0	36.0	36.0					5																	167420177		1922	4134	6056	SO:0001819	synonymous_variant	57451							g.chr5:167420177G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.1176G>A	5.37:g.167420177G>A						TENM2_ENST00000518659.1_Silent_p.A392A|TENM2_ENST00000403607.2_Silent_p.A225A|TENM2_ENST00000520394.1_Silent_p.A201A|TENM2_ENST00000545108.1_Silent_p.A392A	p.A271A							4	931	+								Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.813G>A																																																																																					0.537	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	47	0	0	0	0.184627	0	4	47				
SZT2	23334	broad.mit.edu	37	1	43912679	43912679	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:43912679G>A	ENST00000562955.1	+	65	8955	c.8955G>A	c.(8953-8955)gtG>gtA	p.V2985V	SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Silent_p.V2143V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	3042					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						TGATGCACGTGCACTCGTTCA	0.597																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8953-8955)gtG>gtA		seizure threshold 2 homolog (mouse)							138.0	99.0	112.0					1																	43912679		2203	4300	6503	SO:0001819	synonymous_variant	23334					peroxisome		g.chr1:43912679G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8955G>A	1.37:g.43912679G>A						SZT2_ENST00000372442.1_Silent_p.V2143V	p.V2985V	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			65	8955	+			3042					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Silent	SNP	ENST00000562955.1	37	c.8955G>A	CCDS30694.2																																																																																				0.597	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	43	0	0	0	0.217242	0	3	43				
ZNF773	374928	broad.mit.edu	37	19	58017987	58017987	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr19:58017987A>G	ENST00000282292.4	+	4	664	c.524A>G	c.(523-525)cAt>cGt	p.H175R	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAGAAGTCACATAGGAGCTCC	0.468																																						ENST00000282292.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(523-525)cAt>cGt		zinc finger protein 773							46.0	47.0	47.0					19																	58017987		2203	4300	6503	SO:0001583	missense	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017987A>G	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.524A>G	19.37:g.58017987A>G	ENSP00000282292:p.His175Arg					ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.H174R|ZNF773_ENST00000599847.1_Intron	p.H175R	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	664	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	175					Q96DL8	Missense_Mutation	SNP	ENST00000282292.4	37	c.524A>G	CCDS33134.1	.	.	.	.	.	.	.	.	.	.	A	5.615	0.298142	0.10622	.	.	ENSG00000152439	ENST00000282292	T	0.15603	2.41	1.81	0.72	0.18214	.	.	.	.	.	T	0.12092	0.0294	L	0.52573	1.65	0.09310	N	1	P;B	0.39282	0.666;0.294	B;B	0.33690	0.168;0.026	T	0.25398	-1.0133	9	0.87932	D	0	.	1.7732	0.03016	0.534:0.0:0.186:0.28	.	174;175	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	R	175	ENSP00000282292:H175R	ENSP00000282292:H175R	H	+	2	0	ZNF773	62709799	0.000000	0.05858	0.003000	0.11579	0.126000	0.20510	-1.361000	0.02597	-0.003000	0.14444	0.260000	0.18958	CAT		0.468	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	NM_198542		7	16	0	0	0	0.335167	0	7	16				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		3	28	0	0	0	0.115264	0	3	28				
ANKRD36BP2	645784	broad.mit.edu	37	2	89104958	89104958	+	RNA	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:89104958A>G	ENST00000393525.3	+	0	4898									ankyrin repeat domain 36B pseudogene 2																		AATTCAAATCATTGATTTCTG	0.289																																						ENST00000393525.3																			0																																																			0							g.chr2:89104958A>G			2q11.2	2010-09-30			ENSG00000230006	ENSG00000230006			33607	pseudogene	pseudogene							Standard	NR_015424		Approved		uc010fhg.4		OTTHUMG00000151690		2.37:g.89104958A>G														0	4898	+									RNA	SNP	ENST00000393525.3	37																																																																																						0.289	ANKRD36BP2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000323523.1			3	5	0	0	0	0.150653	0	3	5				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	71	0	0	0	0.150653	0	4	71				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3520	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccgccaccgccgc	0.706																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10558-10560)ggC>ggT		zinc finger homeobox 3							10.0	14.0	12.0					16																	72821615		1455	3158	4613	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821615G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10560C>T	16.37:g.72821615G>A						ZFHX3_ENST00000397992.5_Silent_p.G2606G|AC004943.1_ENST00000584072.1_RNA	p.G3520G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11232	-		Ovarian(137;0.13)	3520			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10560C>T	CCDS10908.1																																																																																				0.706	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	26	0	0	0	0.150653	0	3	26				
PPP6R3	55291	broad.mit.edu	37	11	68305256	68305256	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:68305256C>A	ENST00000393800.2	+	3	378	c.124C>A	c.(124-126)Cgc>Agc	p.R42S	PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393799.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S	NM_001164161.1|NM_001164162.1|NM_001164163.1	NP_001157633.1|NP_001157634.1|NP_001157635.1	Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	42					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGCTCAGAACCGCAAACTTAT	0.368																																						ENST00000393799.2																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						c.(124-126)Cgc>Agc		protein phosphatase 6, regulatory subunit 3							96.0	92.0	94.0					11																	68305256		2200	4294	6494	SO:0001583	missense	55291				regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding	g.chr11:68305256C>A	AF264779	CCDS8182.1, CCDS53671.1, CCDS53672.1, CCDS53673.1, CCDS53674.1, CCDS53675.1	11q13	2012-04-17	2010-06-28	2010-06-28	ENSG00000110075	ENSG00000110075		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	1173	protein-coding gene	gene with protein product	"""sporulation-induced transcript 4-associated protein"""	610879	"""chromosome 11 open reading frame 23"", ""SAPS domain family, member 3"""	C11orf23, SAPS3		11401438, 16769727	Standard	NM_018312		Approved	SAPLa, DKFZp781E2374, DKFZp781O2362, DKFZp781E17107, SAP190, SAPL, PP6R3, FLJ11058, FLJ43065, KIAA1558, MGC125711, MGC125712	uc001onv.3	Q5H9R7		ENST00000393800.2:c.124C>A	11.37:g.68305256C>A	ENSP00000377389:p.Arg42Ser					PPP6R3_ENST00000534534.1_Intron|PPP6R3_ENST00000529710.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524904.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000524845.1_Missense_Mutation_p.R42S|PPP6R3_ENST00000265637.4_Missense_Mutation_p.R42S|PPP6R3_ENST00000393800.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000265636.5_Missense_Mutation_p.R42S|PPP6R3_ENST00000527403.2_Missense_Mutation_p.R42S|PPP6R3_ENST00000393801.3_Missense_Mutation_p.R42S	p.R42S			Q5H9R7	PP6R3_HUMAN			3	391	+			42					Q3B7I1|Q3I4Y0|Q3KR35|Q68CR3|Q7L4R8|Q8N3B2|Q96MB2|Q9H2K5|Q9H2K6|Q9HCL4|Q9NUY3	Missense_Mutation	SNP	ENST00000393800.2	37	c.124C>A	CCDS53672.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039389	0.93630	.	.	ENSG00000110075	ENST00000393799;ENST00000393800;ENST00000529344;ENST00000524845;ENST00000265637;ENST00000524904;ENST00000393801;ENST00000265636;ENST00000529710;ENST00000527403;ENST00000531244	T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.08	5.08	0.68730	.	0.048468	0.85682	D	0.000000	T	0.57592	0.2064	L	0.39085	1.19	0.80722	D	1	P;P;P;P;D;D	0.67145	0.947;0.767;0.862;0.784;0.973;0.996	P;P;P;B;P;D	0.63192	0.84;0.544;0.82;0.406;0.619;0.912	T	0.52917	-0.8511	9	.	.	.	.	18.6681	0.91499	0.0:1.0:0.0:0.0	.	42;42;42;42;42;42	Q5H9R7-3;Q5H9R7-6;Q5H9R7-2;Q5H9R7;Q5H9R7-5;Q5H9R7-4	.;.;.;PP6R3_HUMAN;.;.	S	42	ENSP00000377388:R42S;ENSP00000377389:R42S;ENSP00000433551:R42S;ENSP00000431415:R42S;ENSP00000265637:R42S;ENSP00000433058:R42S;ENSP00000377390:R42S;ENSP00000265636:R42S;ENSP00000437329:R42S;ENSP00000433565:R42S;ENSP00000432837:R42S	.	R	+	1	0	PPP6R3	68061832	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.710000	0.84655	2.654000	0.90174	0.563000	0.77884	CGC		0.368	PPP6R3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395275.1	NM_018312		3	58	1	0	0.115264	0.115264	0.121758	3	58				
SEPHS2	22928	broad.mit.edu	37	16	30456028	30456028	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:30456028T>C	ENST00000478753.2	-	1	1474	c.1021A>G	c.(1021-1023)Att>Gtt	p.I341V	SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	341					selenocysteine biosynthetic process (GO:0016260)		ATP binding (GO:0005524)|selenide, water dikinase activity (GO:0004756)			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AGATTATGAATAACAAAGGAC	0.473																																					Esophageal Squamous(81;1142 1261 11202 24614 35697)	ENST00000478753.2																			0				breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						c.(1021-1023)Att>Gtt		selenophosphate synthetase 2							84.0	78.0	80.0					16																	30456028		1900	4127	6027	SO:0001583	missense	22928				selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity	g.chr16:30456028T>C	BC002381		16p11.2	2013-02-15			ENSG00000179918	ENSG00000179918			19686	protein-coding gene	gene with protein product		606218				10608886	Standard	NM_012248		Approved	SPS2, SPS2b	uc021tgl.1	Q99611	OTTHUMG00000176988	ENST00000478753.2:c.1021A>G	16.37:g.30456028T>C	ENSP00000418669:p.Ile341Val					SEPHS2_ENST00000500504.2_Missense_Mutation_p.I341V|SEPHS2_ENST00000542752.1_Missense_Mutation_p.I284V	p.I341V			Q99611	SPS2_HUMAN			1	1474	-			341					Q9BUQ2	Missense_Mutation	SNP	ENST00000478753.2	37	c.1021A>G		.	.	.	.	.	.	.	.	.	.	T	15.15	2.748105	0.49257	.	.	ENSG00000179918	ENST00000478753;ENST00000542752;ENST00000418751;ENST00000500504	T;T;T	0.16897	2.31;2.31;2.31	4.75	3.64	0.41730	AIR synthase-related protein, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.34658	0.0905	M	0.64567	1.98	0.80722	D	1	D;P	0.65815	0.995;0.805	D;P	0.70935	0.971;0.608	T	0.03315	-1.1049	10	0.52906	T	0.07	-16.332	10.0363	0.42131	0.0:0.0:0.1699:0.8301	.	341;284	Q99611;F5H8F9	SPS2_HUMAN;.	V	341;284;292;341	ENSP00000418669:I341V;ENSP00000443601:I284V;ENSP00000426234:I341V	ENSP00000390233:I292V	I	-	1	0	SEPHS2	30363529	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	7.792000	0.85828	0.944000	0.37579	-0.316000	0.08728	ATT		0.473	SEPHS2-001	KNOWN	basic|seleno	protein_coding	protein_coding	OTTHUMT00000109640.11	NM_012248		4	64	0	0	0	0.150653	0	4	64				
ITGAL	3683	broad.mit.edu	37	16	30522404	30522404	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:30522404C>G	ENST00000356798.6	+	24	2913	c.2733C>G	c.(2731-2733)aaC>aaG	p.N911K	ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K|ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	911					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	TGGAGGACAACTCAGCCACTA	0.567																																					NSCLC(110;1462 1641 3311 33990 49495)	ENST00000356798.6																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76						c.(2731-2733)aaC>aaG		integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	Efalizumab(DB00095)						199.0	171.0	181.0					16																	30522404		2197	4300	6497	SO:0001583	missense	0				blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity	g.chr16:30522404C>G		CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.2733C>G	16.37:g.30522404C>G	ENSP00000349252:p.Asn911Lys					ITGAL_ENST00000358164.5_Missense_Mutation_p.N827K|ITGAL_ENST00000433423.2_Missense_Mutation_p.N145K	p.N911K	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN			24	2913	+			911					O43746|Q45H73|Q96HB1|Q9UBC8	Missense_Mutation	SNP	ENST00000356798.6	37	c.2733C>G	CCDS32433.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.914074	0.33815	.	.	ENSG00000005844	ENST00000356798;ENST00000358164;ENST00000433423	T;T;T	0.54866	0.55;0.55;0.55	5.0	0.192	0.15134	Integrin alpha-2 (1);	0.000000	0.56097	D	0.000033	T	0.65943	0.2740	M	0.76574	2.34	0.41032	D	0.985161	D;D;D	0.89917	1.0;1.0;0.996	D;D;D	0.97110	0.999;1.0;0.978	T	0.64931	-0.6291	10	0.66056	D	0.02	.	7.8746	0.29586	0.0:0.5844:0.0:0.4156	.	145;827;911	B4E021;Q96HB1;P20701	.;.;ITAL_HUMAN	K	911;827;145	ENSP00000349252:N911K;ENSP00000350886:N827K;ENSP00000409377:N145K	ENSP00000349252:N911K	N	+	3	2	ITGAL	30429905	0.061000	0.20836	0.362000	0.25862	0.292000	0.27327	0.079000	0.14782	0.169000	0.19679	0.555000	0.69702	AAC		0.567	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434508.2			18	163	0	0	0	0.608945	0	18	163				
CCNB1	891	broad.mit.edu	37	5	68470883	68470883	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:68470883T>C	ENST00000256442.5	+	6	1138	c.885T>C	c.(883-885)ttT>ttC	p.F295F	snoU13_ENST00000459230.1_RNA	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	295					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to iron(III) ion (GO:0071283)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic spindle checkpoint (GO:0071174)|mitotic spindle stabilization (GO:0043148)|negative regulation of gene expression (GO:0010629)|negative regulation of protein phosphorylation (GO:0001933)|oocyte maturation (GO:0001556)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of chromosome condensation (GO:0060623)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|response to DDT (GO:0046680)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|spermatogenesis (GO:0007283)|tissue regeneration (GO:0042246)|ventricular cardiac muscle cell development (GO:0055015)	centrosome (GO:0005813)|condensed nuclear chromosome outer kinetochore (GO:0000942)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase activity (GO:0016301)|patched binding (GO:0005113)|protein kinase binding (GO:0019901)			large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		CTTTAAACTTTGGTCTGGGTC	0.438																																						ENST00000256442.5																			0				large_intestine(2)|lung(5)|skin(1)	8						c.(883-885)ttT>ttC		cyclin B1							134.0	138.0	137.0					5																	68470883		2203	4300	6503	SO:0001819	synonymous_variant	891				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole		g.chr5:68470883T>C	U22364	CCDS3997.1	5q12	2008-07-18			ENSG00000134057	ENSG00000134057			1579	protein-coding gene	gene with protein product	"""G2/mitotic-specific cyclin B1"""	123836		CCNB		1386342	Standard	NM_031966		Approved		uc003jvm.3	P14635	OTTHUMG00000097817	ENST00000256442.5:c.885T>C	5.37:g.68470883T>C							p.F295F	NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)	6	1138	+		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)	295					A8K066|Q5TZP9	Silent	SNP	ENST00000256442.5	37	c.885T>C	CCDS3997.1																																																																																				0.438	CCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215084.1	NM_031966		6	127	0	0	0	0.335167	0	6	127				
SH3GL1	6455	broad.mit.edu	37	19	4366548	4366548	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr19:4366548G>A	ENST00000269886.3	-	3	315	c.137C>T	c.(136-138)gCg>gTg	p.A46V	AC007292.6_ENST00000594444.1_RNA|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V|SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	46	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				central nervous system development (GO:0007417)|endocytosis (GO:0006897)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|endosome (GO:0005768)|membrane (GO:0016020)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		TTCTGTCACCGCCTTGCTGGT	0.642			T	MLL	AL																																NSCLC(94;1152 2133 30346 33362)	ENST00000269886.3				Dom	yes		19	19p13.3	6455	T	SH3-domain GRB2-like 1 (EEN)			L	MLL		AL		0				NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26						c.(136-138)gCg>gTg		SH3-domain GRB2-like 1							56.0	47.0	50.0					19																	4366548		2203	4299	6502	SO:0001583	missense	6455				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding	g.chr19:4366548G>A		CCDS32874.1, CCDS56076.1, CCDS59335.1	19p13.3	2008-07-22							10830	protein-coding gene	gene with protein product	"""extra 11-19 leukemia fusion"", ""fusion partner of MLL"", ""SH3-containing Grb-2-like 1 protein"", ""SH3-containing protein EEN"", ""SH3 domain GRB2-like 1"""	601768				9169142	Standard	NM_003025		Approved	SH3P8, SH3D2B, CNSA1, EEN, MGC111371	uc002maj.3	Q99961		ENST00000269886.3:c.137C>T	19.37:g.4366548G>A	ENSP00000269886:p.Ala46Val					SH3GL1_ENST00000598564.1_Missense_Mutation_p.A46V|SH3GL1_ENST00000417295.2_Missense_Mutation_p.A46V	p.A46V	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)	3	315	-			46			BAR.		B4DRA1|E7EVZ4|M0QZV5|Q99668	Missense_Mutation	SNP	ENST00000269886.3	37	c.137C>T	CCDS32874.1	.	.	.	.	.	.	.	.	.	.	.	22.0	4.229541	0.79688	.	.	ENSG00000141985	ENST00000269886;ENST00000417295	T;T	0.30182	1.54;1.54	4.35	4.35	0.52113	BAR (3);	0.000000	0.85682	D	0.000000	T	0.40546	0.1121	L	0.48877	1.53	0.80722	D	1	P;D;D	0.76494	0.631;0.999;0.999	B;P;P	0.56960	0.27;0.81;0.81	T	0.11591	-1.0581	10	0.19590	T	0.45	-6.1248	15.4235	0.75031	0.0:0.0:1.0:0.0	.	46;46;46	E7EVZ4;Q6FGM0;Q99961	.;.;SH3G1_HUMAN	V	46	ENSP00000269886:A46V;ENSP00000404568:A46V	ENSP00000269886:A46V	A	-	2	0	SH3GL1	4317548	1.000000	0.71417	0.956000	0.39512	0.952000	0.60782	7.960000	0.87893	1.972000	0.57404	0.561000	0.74099	GCG		0.642	SH3GL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458302.1	NM_003025		3	26	0	0	0	0.115264	0	3	26				
PCDHB10	56126	broad.mit.edu	37	5	140572701	140572701	+	Silent	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:140572701A>G	ENST00000239446.4	+	1	760	c.576A>G	c.(574-576)ccA>ccG	p.P192P		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	192	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGATATATCCAGAGCTAGTGT	0.502																																						ENST00000239446.4																			0				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76						c.(574-576)ccA>ccG									120.0	139.0	132.0					5																	140572701		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140572701A>G	AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.576A>G	5.37:g.140572701A>G							p.P192P	NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	760	+			192			Cadherin 2.		Q96T99	Silent	SNP	ENST00000239446.4	37	c.576A>G	CCDS4252.1																																																																																				0.502	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930		79	174	0	0	0	0.870114	0	79	174				
RYR2	6262	broad.mit.edu	37	1	237796915	237796915	+	Missense_Mutation	SNP	G	G	A	rs375935636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:237796915G>A	ENST00000366574.2	+	43	6910	c.6593G>A	c.(6592-6594)cGt>cAt	p.R2198H	RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2198	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTGCCGTTTTCTCTGT	0.388																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6592-6594)cGt>cAt		ryanodine receptor 2 (cardiac)		G	HIS/ARG	0,3744		0,0,1872	240.0	232.0	235.0		6593	4.9	1.0	1		235	1,8195		0,1,4097	no	missense	RYR2	NM_001035.2	29	0,1,5969	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	2198/4968	237796915	1,11939	1872	4098	5970	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237796915G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6593G>A	1.37:g.237796915G>A	ENSP00000355533:p.Arg2198His					RYR2_ENST00000360064.6_Missense_Mutation_p.R2196H|RYR2_ENST00000542537.1_Missense_Mutation_p.R2182H	p.R2198H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		43	6910	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2198			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6593G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	32	5.140913	0.94560	0.0	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.96396	-4.0;-4.0;-4.0	4.9	4.9	0.64082	Intracellular calcium-release channel (1);	0.000000	0.64402	D	0.000007	D	0.97682	0.9240	M	0.64567	1.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98648	1.0678	10	0.87932	D	0	-9.6234	18.4443	0.90678	0.0:0.0:1.0:0.0	.	2198	Q92736	RYR2_HUMAN	H	2198;2196;2182	ENSP00000355533:R2198H;ENSP00000353174:R2196H;ENSP00000443798:R2182H	ENSP00000353174:R2196H	R	+	2	0	RYR2	235863538	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.754000	0.98908	2.417000	0.82017	0.563000	0.77884	CGT		0.388	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		49	130	0	0	0	0.870114	0	49	130				
PPWD1	23398	broad.mit.edu	37	5	64872761	64872761	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:64872761G>A	ENST00000261308.5	+	6	1097	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q|PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	342					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GAATTTGGCCGACGAATGGCT	0.368																																						ENST00000261308.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1024-1026)cGa>cAa		peptidylprolyl isomerase domain and WD repeat containing 1							145.0	149.0	148.0					5																	64872761		2203	4300	6503	SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64872761G>A	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.1025G>A	5.37:g.64872761G>A	ENSP00000261308:p.Arg342Gln					PPWD1_ENST00000538977.1_Missense_Mutation_p.R186Q|PPWD1_ENST00000535264.1_Missense_Mutation_p.R312Q	p.R342Q	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	6	1097	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	342					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	c.1025G>A	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	G	34	5.369225	0.95900	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977	T;T;T	0.66460	-0.21;0.02;1.69	5.38	5.38	0.77491	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.85327	0.5671	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.87649	0.2527	10	0.66056	D	0.02	.	19.1275	0.93391	0.0:0.0:1.0:0.0	.	312;342	F5H7P7;Q96BP3	.;PPWD1_HUMAN	Q	342;312;186	ENSP00000261308:R342Q;ENSP00000442371:R312Q;ENSP00000444496:R186Q	ENSP00000261308:R342Q	R	+	2	0	PPWD1	64908517	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.869000	0.99810	2.532000	0.85374	0.557000	0.71058	CGA		0.368	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		16	127	0	0	0	0.592651	0	16	127				
BCR	613	broad.mit.edu	37	22	23523995	23523995	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr22:23523995A>G	ENST00000305877.8	+	1	1599	c.848A>G	c.(847-849)tAc>tGc	p.Y283C	BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	283	Binding to ABL SH2-domain.|Kinase.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CAGAGCATCTACGTCGGGGGC	0.657			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																	ENST00000305877.8				Dom	yes		22	22q11.21	613	T	breakpoint cluster region			L	"""ABL1,  FGFR1, JAK2 """		"""CML, ALL, AML"""	BCR/JAK2(6)	0				central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						c.(847-849)tAc>tGc		breakpoint cluster region							21.0	25.0	24.0					22																	23523995		2202	4297	6499	SO:0001583	missense	613				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr22:23523995A>G		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.848A>G	22.37:g.23523995A>G	ENSP00000303507:p.Tyr283Cys					BCR_ENST00000359540.3_Missense_Mutation_p.Y283C|BCR_ENST00000398512.5_Missense_Mutation_p.Y283C	p.Y283C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN			1	1599	+			283			Binding to ABL SH2-domain.|Kinase.		P78501|Q12842|Q4LE80|Q6NZI3	Missense_Mutation	SNP	ENST00000305877.8	37	c.848A>G	CCDS13806.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759921	0.69763	.	.	ENSG00000186716	ENST00000305877;ENST00000359540;ENST00000398512;ENST00000290956;ENST00000292697;ENST00000420248	T;T;T	0.61158	1.05;0.97;0.13	4.67	3.55	0.40652	.	0.232289	0.36703	N	0.002452	T	0.66723	0.2818	L	0.52573	1.65	0.47659	D	0.999482	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.924	T	0.68534	-0.5383	10	0.87932	D	0	.	8.4853	0.33067	0.8273:0.0:0.0:0.1727	.	283;283	P11274-2;P11274	.;BCR_HUMAN	C	283	ENSP00000303507:Y283C;ENSP00000352535:Y283C;ENSP00000381524:Y283C	ENSP00000290956:Y283C	Y	+	2	0	BCR	21853995	1.000000	0.71417	0.992000	0.48379	0.786000	0.44442	5.126000	0.64721	1.876000	0.54355	0.455000	0.32223	TAC		0.657	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327		8	36	0	0	0	0.361761	0	8	36				
C2orf71	388939	broad.mit.edu	37	2	29295352	29295352	+	Silent	SNP	C	C	T	rs201520631		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:29295352C>T	ENST00000331664.5	-	1	1775	c.1776G>A	c.(1774-1776)acG>acA	p.T592T		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	592					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.T592T(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						ACTGGGACCTCGTCTGCCTCT	0.632																																						ENST00000331664.5																			1	Substitution - coding silent(1)	p.T592T(1)	endometrium(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1774-1776)acG>acA		chromosome 2 open reading frame 71							36.0	39.0	38.0					2																	29295352		2069	4224	6293	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295352C>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1776G>A	2.37:g.29295352C>T							p.T592T	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1775	-			592						Silent	SNP	ENST00000331664.5	37	c.1776G>A	CCDS42669.1																																																																																				0.632	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		9	61	0	0	0	0.361761	0	9	61				
ADCY9	115	broad.mit.edu	37	16	4042212	4042212	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:4042212C>T	ENST00000294016.3	-	5	2680	c.2142G>A	c.(2140-2142)ccG>ccA	p.P714P	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAACCTCAGCGGAAGGAGAG	0.537																																						ENST00000294016.3																			0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2140-2142)ccG>ccA		adenylate cyclase 9							103.0	92.0	96.0					16																	4042212		2197	4300	6497	SO:0001819	synonymous_variant	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042212C>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2142G>A	16.37:g.4042212C>T						ADCY9_ENST00000571889.1_5'UTR	p.P714P	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN			5	2680	-			714					A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	c.2142G>A	CCDS32382.1																																																																																				0.537	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1			4	91	0	0	0	0.184627	0	4	91				
GIMAP1	170575	broad.mit.edu	37	7	150417391	150417391	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr7:150417391A>C	ENST00000307194.5	+	3	439	c.299A>C	c.(298-300)gAg>gCg	p.E100A		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	100	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCTGTGAGGAGAGAGGTCAC	0.647																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(298-300)gAg>gCg		GTPase, IMAP family member 1							51.0	46.0	48.0					7																	150417391		2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417391A>C	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.299A>C	7.37:g.150417391A>C	ENSP00000302833:p.Glu100Ala						p.E100A	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	439	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.299A>C	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	A	14.85	2.658249	0.47467	.	.	ENSG00000213203	ENST00000307194	T	0.08634	3.07	4.72	0.906	0.19314	AIG1 (1);	0.357678	0.24769	U	0.035755	T	0.18509	0.0444	M	0.88310	2.945	0.09310	N	1	P	0.38642	0.641	P	0.48488	0.579	T	0.10636	-1.0621	10	0.56958	D	0.05	.	3.07	0.06227	0.6256:0.0:0.1971:0.1773	.	100	Q8WWP7	GIMA1_HUMAN	A	100	ENSP00000302833:E100A	ENSP00000302833:E100A	E	+	2	0	GIMAP1	150048324	0.098000	0.21812	0.000000	0.03702	0.009000	0.06853	2.713000	0.47194	0.010000	0.14839	-0.290000	0.09829	GAG		0.647	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		8	70	0	0	0	0.307466	0	8	70				
CFAP43	80217	broad.mit.edu	37	10	105900659	105900659	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr10:105900659A>G	ENST00000357060.3	-	34	4487	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H	WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	NM_025145.5	NP_079421.5														NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCATCAGAATACTCCAGTACT	0.318																																						ENST00000357060.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						c.(4372-4374)Tat>Cat		WD repeat domain 96							86.0	83.0	84.0					10																	105900659		2203	4299	6502	SO:0001583	missense	80217							g.chr10:105900659A>G																												ENST00000357060.3:c.4372T>C	10.37:g.105900659A>G	ENSP00000349568:p.Tyr1458His					WDR96_ENST00000479392.1_5'UTR|WDR96_ENST00000428666.1_Missense_Mutation_p.Y1430H	p.Y1458H	NM_025145.5	NP_079421.5	Q8NDM7	WDR96_HUMAN			34	4487	-			1458						Missense_Mutation	SNP	ENST00000357060.3	37	c.4372T>C	CCDS31281.1	.	.	.	.	.	.	.	.	.	.	A	14.93	2.682901	0.47991	.	.	ENSG00000197748	ENST00000357060;ENST00000428666	T;T	0.18016	2.24;2.31	5.44	5.44	0.79542	.	0.136179	0.51477	D	0.000088	T	0.36552	0.0971	M	0.69823	2.125	0.20638	N	0.999875	P;D	0.64830	0.937;0.994	P;P	0.61132	0.71;0.884	T	0.21655	-1.0239	10	0.39692	T	0.17	.	13.7265	0.62761	1.0:0.0:0.0:0.0	.	1430;1458	G5E9L1;Q8NDM7	.;WDR96_HUMAN	H	1458;1430	ENSP00000349568:Y1458H;ENSP00000400289:Y1430H	ENSP00000349568:Y1458H	Y	-	1	0	WDR96	105890649	0.999000	0.42202	0.276000	0.24689	0.363000	0.29612	6.833000	0.75334	2.069000	0.61940	0.533000	0.62120	TAT		0.318	WDR96-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				12	29	0	0	0	0.457914	0	12	29				
ACKR2	1238	broad.mit.edu	37	3	42906720	42906720	+	Silent	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:42906720C>A	ENST00000422265.1	+	3	901	c.726C>A	c.(724-726)ccC>ccA	p.P242P	ACKR2_ENST00000273145.2_Silent_p.P242P|ACKR2_ENST00000442925.1_Silent_p.P242P|CYP8B1_ENST00000437102.1_Intron|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	242					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										GGCTGAGGCCCGCAGGCCAGG	0.537																																						ENST00000422265.1																			0											c.(724-726)ccC>ccA		atypical chemokine receptor 2							112.0	113.0	113.0					3																	42906720		2203	4300	6503	SO:0001819	synonymous_variant	1238							g.chr3:42906720C>A	U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.726C>A	3.37:g.42906720C>A						ACKR2_ENST00000471537.1_Intron|ACKR2_ENST00000273145.2_Silent_p.P242P|ACKR2_ENST00000442925.1_Silent_p.P242P|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Intron	p.P242P	NM_001296.4	NP_001287.2					3	901	+								B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	ENST00000422265.1	37	c.726C>A	CCDS2706.1																																																																																				0.537	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256645.2	NM_001296		4	167	1	0	0.184627	0.184627	0.19232	4	167				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			7	58	0	0	0	0.335167	0	7	58				
RBFOX1	54715	broad.mit.edu	37	16	7703830	7703830	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:7703830G>A	ENST00000550418.1	+	12	1759	c.771G>A	c.(769-771)ccG>ccA	p.P257P	RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000355637.4_Silent_p.P277P|RBFOX1_ENST00000340209.4_Silent_p.P262P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000547372.1_Silent_p.P300P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000436368.2_Silent_p.P277P	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	257					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CAGGCTTCCCGTATCCAGCAG	0.701																																					Ovarian(157;934 2567 15163 39509)	ENST00000340209.4																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(784-786)ccG>ccA		RNA binding protein, fox-1 homolog (C. elegans) 1							14.0	18.0	17.0					16																	7703830		1823	3800	5623	SO:0001819	synonymous_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7703830G>A	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.771G>A	16.37:g.7703830G>A						RBFOX1_ENST00000311745.5_Silent_p.P277P|RBFOX1_ENST00000553186.1_Silent_p.P230P|RBFOX1_ENST00000535565.2_Silent_p.P214P|RBFOX1_ENST00000552089.1_Silent_p.P274P|RBFOX1_ENST00000422070.4_Silent_p.P300P|RBFOX1_ENST00000547338.1_Silent_p.P257P|RBFOX1_ENST00000436368.2_Silent_p.P277P|RBFOX1_ENST00000550418.1_Silent_p.P257P|RBFOX1_ENST00000355637.4_Silent_p.P277P|RBFOX1_ENST00000547372.1_Silent_p.P300P	p.P262P			Q9NWB1	RFOX1_HUMAN			9	1083	+			257					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Silent	SNP	ENST00000550418.1	37	c.786G>A	CCDS55983.1																																																																																				0.701	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891		4	47	0	0	0	0.217242	0	4	47				
CRYBG3	131544	broad.mit.edu	37	3	97618049	97618049	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:97618049G>C	ENST00000182096.4	+	11	2133	c.2069G>C	c.(2068-2070)tGc>tCc	p.C690S		NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2638							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAATACAAATGCTTTTTTGAC	0.358																																						ENST00000182096.4																			0				breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(2068-2070)tGc>tCc		beta-gamma crystallin domain containing 3							88.0	84.0	85.0					3																	97618049		1817	4086	5903	SO:0001583	missense	131544							g.chr3:97618049G>C			3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2069G>C	3.37:g.97618049G>C	ENSP00000182096:p.Cys690Ser						p.C690S	NM_153605.3	NP_705833.3					11	2133	+								B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Missense_Mutation	SNP	ENST00000182096.4	37	c.2069G>C		.	.	.	.	.	.	.	.	.	.	G	7.175	0.588472	0.13812	.	.	ENSG00000080200	ENST00000182096	T	0.73152	-0.72	5.86	5.86	0.93980	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.108692	0.41712	D	0.000825	T	0.54549	0.1865	N	0.13327	0.33	0.80722	D	1	B	0.21071	0.051	B	0.23852	0.049	T	0.52771	-0.8531	10	0.06757	T	0.87	.	18.9454	0.92620	0.0:0.0:1.0:0.0	.	690	Q68DQ2	CRBG3_HUMAN	S	690	ENSP00000182096:C690S	ENSP00000182096:C690S	C	+	2	0	CRYBG3	99100739	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.124000	0.57924	2.774000	0.95407	0.585000	0.79938	TGC		0.358	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353751.1	NM_153605		25	50	0	0	0	0.717897	0	25	50				
TMEM139	135932	broad.mit.edu	37	7	142983609	142983609	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr7:142983609C>T	ENST00000359333.3	+	3	851	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CASP2_ENST00000310447.5_5'Flank|TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|CASP2_ENST00000392925.2_5'Flank|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|AC073342.12_ENST00000446192.1_RNA	NM_001242775.2|NM_001282876.1|NM_001282877.1	NP_001229704.1|NP_001269805.1|NP_001269806.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	113						integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAACCACCCCCCTACAGCACT	0.577																																						ENST00000359333.3																			0				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7						c.(337-339)cCc>cTc		transmembrane protein 139							73.0	78.0	76.0					7																	142983609		2203	4300	6503	SO:0001583	missense	135932					integral to membrane		g.chr7:142983609C>T	AK075067	CCDS5878.1	7q34	2006-03-17			ENSG00000178826	ENSG00000178826			22058	protein-coding gene	gene with protein product							Standard	NM_153345		Approved	FLJ90586	uc003wck.4	Q8IV31	OTTHUMG00000152652	ENST00000359333.3:c.338C>T	7.37:g.142983609C>T	ENSP00000352284:p.Pro113Leu					TMEM139_ENST00000410004.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409541.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409102.1_Missense_Mutation_p.P113L|TMEM139_ENST00000409244.1_Missense_Mutation_p.P113L|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000427392.1_RNA|AC073342.12_ENST00000446192.1_RNA	p.P113L	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN			3	851	+	Melanoma(164;0.059)		113					B2RCL5|D3DXD4|Q6ZME2|Q8NC22|Q96AU8	Missense_Mutation	SNP	ENST00000359333.3	37	c.338C>T	CCDS5878.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.584833	0.65992	.	.	ENSG00000178826	ENST00000409102;ENST00000359333;ENST00000409244;ENST00000409541;ENST00000410004	.	.	.	5.1	5.1	0.69264	.	0.304164	0.29034	N	0.013348	T	0.66416	0.2787	L	0.46157	1.445	0.48452	D	0.99965	D	0.57257	0.979	P	0.59487	0.858	T	0.68689	-0.5342	9	0.72032	D	0.01	-4.26	14.4444	0.67340	0.0:1.0:0.0:0.0	.	113	Q8IV31	TM139_HUMAN	L	113	.	ENSP00000352284:P113L	P	+	2	0	TMEM139	142693731	0.729000	0.28090	0.978000	0.43139	0.533000	0.34776	3.769000	0.55303	2.567000	0.86603	0.558000	0.71614	CCC		0.577	TMEM139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327145.1	NM_153345		50	100	0	0	0	0.870114	0	50	100				
CROCCP2	84809	broad.mit.edu	37	1	16956688	16956688	+	lincRNA	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:16956688A>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGGCCTCCAGAGCCCACCTAC	0.652																																						ENST00000412962.1																			0																																																			0							g.chr1:16956688A>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956688A>G														0	294	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.652	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	23	0	0	0	0.150653	0	4	23				
THAP11	57215	broad.mit.edu	37	16	67876808	67876808	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:67876808G>A	ENST00000303596.1	+	1	596	c.351G>A	c.(349-351)caG>caA	p.Q117Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	117	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		agcagcaacagcagcagcagc	0.667																																						ENST00000303596.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8						c.(349-351)caG>caA		THAP domain containing 11							22.0	27.0	25.0					16																	67876808		1916	3809	5725	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876808G>A	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.351G>A	16.37:g.67876808G>A						CENPT_ENST00000562787.1_Intron	p.Q117Q	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	596	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	117			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.351G>A	CCDS10847.1																																																																																				0.667	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1	NM_020457		3	62	0	0	0	0.115264	0	3	62				
KRT78	196374	broad.mit.edu	37	12	53238345	53238345	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr12:53238345T>G	ENST00000304620.4	-	5	982	c.919A>C	c.(919-921)Aag>Cag	p.K307Q	KRT78_ENST00000359499.4_Missense_Mutation_p.K197Q	NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	307	Coil 2.|Rod.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCACCACCTTGGTCTGGTAC	0.617																																						ENST00000359499.4																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						c.(589-591)Aag>Cag		keratin 78							114.0	90.0	98.0					12																	53238345		2203	4300	6503	SO:0001583	missense	196374					keratin filament	protein binding|structural molecule activity	g.chr12:53238345T>G	AK096419	CCDS8840.1, CCDS73473.1	12q13.13	2013-06-25			ENSG00000170423	ENSG00000170423		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28926	protein-coding gene	gene with protein product		611159				16831889	Standard	XM_005268695		Approved	K5B	uc001sbc.1	Q8N1N4	OTTHUMG00000169880	ENST00000304620.4:c.919A>C	12.37:g.53238345T>G	ENSP00000306261:p.Lys307Gln					KRT78_ENST00000304620.4_Missense_Mutation_p.K307Q	p.K197Q			Q8N1N4	K2C78_HUMAN			5	600	-			307			Coil 1B.|Rod.		A8K4D6|Q5HYM7|Q7RTT2	Missense_Mutation	SNP	ENST00000304620.4	37	c.589A>C	CCDS8840.1	.	.	.	.	.	.	.	.	.	.	T	16.19	3.052793	0.55218	.	.	ENSG00000170423	ENST00000359499;ENST00000304620;ENST00000539860	D;D	0.90732	-2.72;-2.72	5.07	3.91	0.45181	Filament (1);	.	.	.	.	D	0.92506	0.7620	M	0.78637	2.42	0.31897	N	0.616503	P	0.48834	0.916	P	0.51974	0.686	D	0.91999	0.5609	9	0.66056	D	0.02	.	10.0599	0.42268	0.0:0.0:0.1693:0.8307	.	307	Q8N1N4	K2C78_HUMAN	Q	197;307;78	ENSP00000352479:K197Q;ENSP00000306261:K307Q	ENSP00000306261:K307Q	K	-	1	0	KRT78	51524612	0.994000	0.37717	0.997000	0.53966	0.107000	0.19398	2.292000	0.43549	0.857000	0.35407	0.460000	0.39030	AAG		0.617	KRT78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406380.1	NM_173352		35	111	0	0	0	0.853193	0	35	111				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	36	0	0	0	0.184627	0	3	36				
HIST1H2BN	8341	broad.mit.edu	37	6	27806651	27806651	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr6:27806651T>G	ENST00000396980.3	+	1	212	c.212T>G	c.(211-213)tTc>tGc	p.F71C	HIST1H2AK_ENST00000330180.2_5'Flank|HIST1H2BN_ENST00000606613.1_Missense_Mutation_p.F71C	NM_003520.3	NP_003511.1	Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	71					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AATGACATCTTCGAGCGCATC	0.607																																						ENST00000606613.1																			0				central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						c.(211-213)tTc>tGc		histone cluster 1, H2bn							160.0	148.0	152.0					6																	27806651		2203	4300	6503	SO:0001583	missense	8341				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27806651T>G	Z83336	CCDS4633.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000233822	ENSG00000233822		"""Histones / Replication-dependent"""	4749	protein-coding gene	gene with protein product		602801	"""H2B histone family, member D"", ""histone 1, H2bn"""	H2BFD		9439656, 12408966	Standard	NM_003520		Approved	H2B/d	uc003njv.3	Q99877	OTTHUMG00000016397	ENST00000396980.3:c.212T>G	6.37:g.27806651T>G	ENSP00000380177:p.Phe71Cys					HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.F71C	p.F71C			Q99877	H2B1N_HUMAN			1	273	+			71					B2R5L4|Q494S8|Q96FB7	Missense_Mutation	SNP	ENST00000396980.3	37	c.212T>G	CCDS4633.1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293229	0.60086	.	.	ENSG00000233822	ENST00000449538;ENST00000396980	T;T	0.70282	-0.47;-0.47	4.71	3.57	0.40892	Histone-fold (2);Histone core (1);	0.000000	0.32204	U	0.006433	D	0.86847	0.6031	H	0.98818	4.34	0.32050	N	0.597031	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.86101	0.1556	10	0.87932	D	0	.	9.5472	0.39288	0.0:0.0854:0.0:0.9146	.	71;71	Q99877;B2R4S9	H2B1N_HUMAN;.	C	71	ENSP00000446031:F71C;ENSP00000380177:F71C	ENSP00000380177:F71C	F	+	2	0	HIST1H2BN	27914630	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.514000	0.81750	2.052000	0.61016	0.529000	0.55759	TTC		0.607	HIST1H2BN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043840.2	NM_003520		81	168	0	0	0	0.870114	0	81	168				
PCDH15	65217	broad.mit.edu	37	10	55587260	55587260	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr10:55587260G>C	ENST00000320301.6	-	32	4654	c.4260C>G	c.(4258-4260)ccC>ccG	p.P1420P	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Silent_p.P1427P|PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTTAGCCGCGGGTAATGCGG	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)ccC>ccG		protocadherin-related 15							82.0	86.0	84.0					10																	55587260		2203	4300	6503	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587260G>C	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4260C>G	10.37:g.55587260G>C		HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Silent_p.P1349P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Silent_p.P1422P|PCDH15_ENST00000395433.1_Silent_p.P1395P|PCDH15_ENST00000395432.2_Silent_p.P1380P|PCDH15_ENST00000395430.1_Silent_p.P1417P|PCDH15_ENST00000395438.1_Silent_p.P1420P|PCDH15_ENST00000320301.6_Silent_p.P1420P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Silent_p.P1031P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Silent_p.P1420P|PCDH15_ENST00000395445.1_Silent_p.P1427P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	p.P1427P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4675	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4281C>G	CCDS7248.1																																																																																				0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		27	87	0	0	0	0.760397	0	27	87				
GIT2	9815	broad.mit.edu	37	12	110383093	110383093	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr12:110383093G>T	ENST00000355312.3	-	16	1702	c.1703C>A	c.(1702-1704)tCc>tAc	p.S568Y	GIT2_ENST00000553118.1_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000356259.4_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000457474.2_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.S518Y	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	568					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						CCTCGACCAGGAAAGTGTGGA	0.547																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1552-1554)tCc>tAc		G protein-coupled receptor kinase interacting ArfGAP 2							63.0	58.0	60.0					12																	110383093		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110383093G>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1703C>A	12.37:g.110383093G>T	ENSP00000347464:p.Ser568Tyr					GIT2_ENST00000355312.3_Missense_Mutation_p.S568Y|GIT2_ENST00000457474.2_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000551209.1_Missense_Mutation_p.S517Y|GIT2_ENST00000354574.4_Intron|GIT2_ENST00000361006.5_Intron|GIT2_ENST00000338373.5_Missense_Mutation_p.S470Y|GIT2_ENST00000343646.5_Intron|GIT2_ENST00000356259.4_Intron	p.S518Y			Q14161	GIT2_HUMAN			15	1717	-			568					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1553C>A	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801988	0.31869	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000338373;ENST00000551209	T;T;T;T	0.74315	-0.74;-0.8;-0.64;-0.83	5.82	4.91	0.64330	.	0.100313	0.64402	D	0.000001	T	0.69052	0.3068	L	0.34521	1.04	0.80722	D	1	B	0.33477	0.413	B	0.38296	0.27	T	0.69628	-0.5094	10	0.51188	T	0.08	.	15.8711	0.79119	0.0:0.1357:0.8643:0.0	.	568	Q14161	GIT2_HUMAN	Y	568;518;470;517	ENSP00000347464:S568Y;ENSP00000353312:S518Y;ENSP00000340342:S470Y;ENSP00000448832:S517Y	ENSP00000340342:S470Y	S	-	2	0	GIT2	108867476	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.412000	0.59787	1.421000	0.47157	0.655000	0.94253	TCC		0.547	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		14	25	1	0	4.7546e-09	0.500413	5.66024e-09	14	25				
CCDC88A	55704	broad.mit.edu	37	2	55582770	55582770	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:55582770G>C	ENST00000436346.1	-	8	1586	c.745C>G	c.(745-747)Ctg>Gtg	p.L249V	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	249					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCCACCGACAGATGTTGTCGA	0.463																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(745-747)Ctg>Gtg		coiled-coil domain containing 88A							131.0	114.0	120.0					2																	55582770		2203	4300	6503	SO:0001583	missense	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55582770G>C	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.745C>G	2.37:g.55582770G>C	ENSP00000410608:p.Leu249Val					CCDC88A_ENST00000413716.2_Missense_Mutation_p.L249V|CCDC88A_ENST00000263630.8_Missense_Mutation_p.L249V|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L249V	p.L249V	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			8	1586	-			249					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	ENST00000436346.1	37	c.745C>G		.	.	.	.	.	.	.	.	.	.	G	18.84	3.709257	0.68615	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.05	2.22	0.28083	.	0.000000	0.38058	U	0.001822	T	0.79936	0.4532	M	0.71581	2.175	0.80722	D	1	D;D;D	0.76494	0.988;0.999;0.999	D;D;D	0.87578	0.951;0.997;0.998	T	0.78127	-0.2325	10	0.51188	T	0.08	-5.5733	9.1172	0.36764	0.3656:0.0:0.6344:0.0	.	249;249;249	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	V	249	ENSP00000338728:L249V;ENSP00000263630:L249V;ENSP00000410608:L249V;ENSP00000404431:L249V	ENSP00000263630:L249V	L	-	1	2	CCDC88A	55436274	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.530000	0.45641	0.656000	0.30886	0.591000	0.81541	CTG		0.463	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		34	53	0	0	0	0.847076	0	34	53				
SEMA4C	54910	broad.mit.edu	37	2	97530551	97530551	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:97530551A>G	ENST00000305476.5	-	9	985	c.853T>C	c.(853-855)Tgc>Cgc	p.C285R		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	285	Dominant negative effect on myogenic differentiation. {ECO:0000250}.|Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GGGGCAGAGCATGCCAGCCGC	0.632																																						ENST00000305476.5																			0				NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						c.(853-855)Tgc>Cgc		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C							57.0	60.0	59.0					2																	97530551		2203	4300	6503	SO:0001583	missense	54910				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity	g.chr2:97530551A>G	AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.853T>C	2.37:g.97530551A>G	ENSP00000306844:p.Cys285Arg						p.C285R	NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN			9	985	-			285			Dominant negative effect on myogenic differentiation (By similarity).|Sema.		Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	ENST00000305476.5	37	c.853T>C	CCDS2029.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865120	0.71949	.	.	ENSG00000168758	ENST00000305476	D	0.95482	-3.72	5.97	5.97	0.96955	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99529	1.0960	10	0.87932	D	0	.	15.433	0.75116	1.0:0.0:0.0:0.0	.	285	Q9C0C4	SEM4C_HUMAN	R	285	ENSP00000306844:C285R	ENSP00000306844:C285R	C	-	1	0	SEMA4C	96894278	1.000000	0.71417	0.999000	0.59377	0.572000	0.35998	7.407000	0.80029	2.288000	0.76882	0.533000	0.62120	TGC		0.632	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252957.1	NM_017789		4	61	0	0	0	0.150653	0	4	61				
CDHR2	54825	broad.mit.edu	37	5	176016426	176016426	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:176016426C>A	ENST00000510636.1	+	23	3378	c.3104C>A	c.(3103-3105)aCc>aAc	p.T1035N	CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N|CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1035	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CTGGAAGCCACCACCACCCTG	0.652																																						ENST00000510636.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						c.(3103-3105)aCc>aAc		cadherin-related family member 2							109.0	103.0	105.0					5																	176016426		2203	4300	6503	SO:0001583	missense	54825				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding	g.chr5:176016426C>A	AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.3104C>A	5.37:g.176016426C>A	ENSP00000424565:p.Thr1035Asn					CDHR2_ENST00000261944.5_Missense_Mutation_p.T1035N|CDHR2_ENST00000506348.1_Missense_Mutation_p.T1035N	p.T1035N	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN			23	3378	+			1035			Cadherin 9.		A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	c.3104C>A	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	c	0.312	-0.967429	0.02232	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.56275	0.47;0.47;0.47	4.99	-4.75	0.03239	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.21590	0.0520	N	0.04746	-0.17	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.18493	-1.0335	9	0.14656	T	0.56	2.2306	3.8667	0.09019	0.2994:0.4592:0.1306:0.1107	.	1035	Q9BYE9	CDHR2_HUMAN	N	1035	ENSP00000424565:T1035N;ENSP00000261944:T1035N;ENSP00000421078:T1035N	ENSP00000261944:T1035N	T	+	2	0	CDHR2	175949032	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.113000	0.10774	-1.200000	0.02662	-0.408000	0.06270	ACC		0.652	CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675		6	111	1	0	0.00116845	0.217242	0.00130796	6	111				
IPO13	9670	broad.mit.edu	37	1	44415596	44415596	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:44415596T>G	ENST00000372343.3	+	2	1254	c.592T>G	c.(592-594)Tgt>Ggt	p.C198G		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	198					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GGCGGTGGAATGTGGGGCTGT	0.622																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(592-594)Tgt>Ggt		importin 13							15.0	17.0	16.0					1																	44415596		2203	4297	6500	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44415596T>G	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.592T>G	1.37:g.44415596T>G	ENSP00000361418:p.Cys198Gly						p.C198G	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			2	1254	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	198					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.592T>G	CCDS503.1	.	.	.	.	.	.	.	.	.	.	T	9.998	1.232759	0.22626	.	.	ENSG00000117408	ENST00000372343	T	0.41065	1.01	5.46	5.46	0.80206	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.043845	0.85682	D	0.000000	T	0.30541	0.0768	N	0.19112	0.55	0.80722	D	1	B	0.24483	0.104	B	0.25759	0.063	T	0.07673	-1.0760	10	0.25751	T	0.34	-4.7048	15.5348	0.75993	0.0:0.0:0.0:1.0	.	198	O94829	IPO13_HUMAN	G	198	ENSP00000361418:C198G	ENSP00000361418:C198G	C	+	1	0	IPO13	44188183	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	6.015000	0.70791	2.088000	0.63022	0.402000	0.26972	TGT		0.622	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		3	16	0	0	0	0.150653	0	3	16				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				RP11-156P1.3_ENST00000575173.1_RNA|LRRC37A17P_ENST00000570478.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			3	85	0	0	0	0.115264	0	3	85				
FRYL	285527	broad.mit.edu	37	4	48551612	48551612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:48551612C>T	ENST00000503238.1	-	36	4661	c.4662G>A	c.(4660-4662)tgG>tgA	p.W1554*	FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.W1554*			O94915	FRYL_HUMAN	FRY-like	1554					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTTCAGTCGCCAATTAGAAT	0.438																																						ENST00000358350.4																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						c.(4660-4662)tgG>tgA		FRY-like							122.0	118.0	119.0					4																	48551612		1955	4138	6093	SO:0001587	stop_gained	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48551612C>T	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4662G>A	4.37:g.48551612C>T	ENSP00000426064:p.Trp1554*					FRYL_ENST00000537810.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000503238.1_Nonsense_Mutation_p.W1554*|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000507873.2_5'UTR	p.W1554*	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN			39	5266	-			1554					O95640|Q8WTZ5|Q9NT40	Nonsense_Mutation	SNP	ENST00000503238.1	37	c.4662G>A	CCDS43227.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	49|49	15.037719|15.037719	0.99820|0.99820	.|.	.|.	ENSG00000075539|ENSG00000075539	ENST00000514617|ENST00000503238;ENST00000358350;ENST00000537810	.|.	.|.	.|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.72269|.	0.3439|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67074|.	-0.5762|.	4|.	.|0.29301	.|T	.|0.29	.|.	19.5353|19.5353	0.95251|0.95251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	T|X	425|1554	.|.	.|ENSP00000351113:W1554X	A|W	-|-	1|3	0|0	FRYL|FRYL	48246369|48246369	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.461000|7.461000	0.80834|0.80834	2.607000|2.607000	0.88179|0.88179	0.655000|0.655000	0.94253|0.94253	GCG|TGG		0.438	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2			28	53	0	0	0	0.750413	0	28	53				
KIF20A	10112	broad.mit.edu	37	5	137520549	137520549	+	Silent	SNP	G	G	A	rs114549959		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:137520549G>A	ENST00000394894.3	+	14	1963	c.1737G>A	c.(1735-1737)caG>caA	p.Q579Q	KIF20A_ENST00000508792.1_Silent_p.Q561Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	579					ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGGAACGACAGGAAAAGCTAC	0.488													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23024	0.0		0.0	False		,,,				2504	0.0					ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1735-1737)caG>caA		kinesin family member 20A							126.0	127.0	127.0					5																	137520549		2203	4300	6503	SO:0001819	synonymous_variant	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137520549G>A	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1737G>A	5.37:g.137520549G>A						KIF20A_ENST00000508792.1_Silent_p.Q561Q	p.Q579Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		14	1963	+			579					B4DL79|D3DQB6	Silent	SNP	ENST00000394894.3	37	c.1737G>A	CCDS4199.1																																																																																				0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		33	88	0	0	0	0.812448	0	33	88				
WDR24	84219	broad.mit.edu	37	16	734790	734790	+	Missense_Mutation	SNP	G	G	C	rs375205983		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:734790G>C	ENST00000248142.6	-	13	2706	c.2707C>G	c.(2707-2709)Ctg>Gtg	p.L903V	JMJD8_ENST00000454700.1_5'Flank|WDR24_ENST00000293883.4_Missense_Mutation_p.L773V|JMJD8_ENST00000293882.4_5'Flank|JMJD8_ENST00000412368.2_5'Flank|JMJD8_ENST00000562111.1_5'Flank|JMJD8_ENST00000609261.1_5'Flank|JMJD8_ENST00000562824.1_5'Flank			Q96S15	WDR24_HUMAN	WD repeat domain 24	903										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				CTGCCTTCCAGCCACTTCATG	0.677																																						ENST00000293883.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19						c.(2317-2319)Ctg>Gtg		WD repeat domain 24							18.0	15.0	16.0					16																	734790		2166	4265	6431	SO:0001583	missense	84219							g.chr16:734790G>C	AL136863	CCDS10420.1	16p13.3	2013-01-09			ENSG00000127580	ENSG00000127580		"""WD repeat domain containing"""	20852	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 21"""	C16orf21		11230166	Standard	NM_032259		Approved	DKFZp434F054, JFP7	uc002ciz.1	Q96S15	OTTHUMG00000090421	ENST00000248142.6:c.2707C>G	16.37:g.734790G>C	ENSP00000248142:p.Leu903Val					WDR24_ENST00000248142.6_Missense_Mutation_p.L903V	p.L773V	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN			9	3076	-		Hepatocellular(780;0.0218)	903					A2IDB8|D3DU59|Q96GC7|Q9H0B7	Missense_Mutation	SNP	ENST00000248142.6	37	c.2317C>G		.	.	.	.	.	.	.	.	.	.	g	8.938	0.965087	0.18583	.	.	ENSG00000127580	ENST00000248142;ENST00000293883	T;T	0.77229	-1.08;0.32	4.77	1.58	0.23477	.	0.000000	0.64402	D	0.000001	T	0.72993	0.3530	M	0.77486	2.375	0.49213	D	0.999763	P	0.45957	0.869	B	0.39068	0.289	T	0.70200	-0.4937	10	0.54805	T	0.06	-22.8641	8.1088	0.30903	0.3701:0.0:0.6299:0.0	.	773	Q96S15-2	.	V	903;773	ENSP00000248142:L903V;ENSP00000293883:L773V	ENSP00000248142:L903V	L	-	1	2	WDR24	674791	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	2.970000	0.49240	0.184000	0.20083	-0.435000	0.05868	CTG		0.677	WDR24-201	KNOWN	basic	protein_coding	protein_coding		NM_032259		3	9	0	0	0	0.115264	0	3	9				
WISP2	8839	broad.mit.edu	37	20	43355879	43355879	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:43355879G>A	ENST00000372868.2	+	5	1027	c.684G>A	c.(682-684)caG>caA	p.Q228Q	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000190983.4_Silent_p.Q228Q|WISP2_ENST00000372865.4_Missense_Mutation_p.S146N|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	228	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				TGGAGACCCAGCGCCGCCTGT	0.672																																						ENST00000372865.4																			0				skin(1)	1						c.(436-438)aGc>aAc		WNT1 inducible signaling pathway protein 2							31.0	33.0	32.0					20																	43355879		2203	4300	6503	SO:0001819	synonymous_variant	8839				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr20:43355879G>A	AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.684G>A	20.37:g.43355879G>A						RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372868.2_Silent_p.Q228Q|WISP2_ENST00000190983.4_Silent_p.Q228Q|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000471629.1_3'UTR	p.S146N			O76076	WISP2_HUMAN			3	945	+		Myeloproliferative disorder(115;0.0122)	142			VWFC.		B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	c.437G>A	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175015	0.38413	.	.	ENSG00000064205	ENST00000372865	T	0.67523	-0.27	4.05	0.67	0.17923	.	.	.	.	.	T	0.54549	0.1865	.	.	.	0.80722	D	1	B	0.12630	0.006	B	0.08055	0.003	T	0.52726	-0.8537	8	0.87932	D	0	-45.6268	8.428	0.32739	0.3721:0.0:0.6279:0.0	.	146	Q6PEG3	.	N	146	ENSP00000361956:S146N	ENSP00000361956:S146N	S	+	2	0	WISP2	42789293	0.972000	0.33761	0.915000	0.36163	0.643000	0.38383	1.614000	0.36911	0.348000	0.23949	0.561000	0.74099	AGC		0.672	WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881		16	27	0	0	0	0.557998	0	16	27				
PDGFRL	5157	broad.mit.edu	37	8	17447026	17447026	+	Silent	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:17447026G>A	ENST00000541323.1	+	3	550	c.105G>A	c.(103-105)gaG>gaA	p.E35E	PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	35					G-protein coupled receptor signaling pathway (GO:0007186)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)	extracellular region (GO:0005576)	platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AACCAGGAGAGAATAGAATCA	0.433																																						ENST00000541323.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9						c.(103-105)gaG>gaA		platelet-derived growth factor receptor-like							143.0	145.0	144.0					8																	17447026		2203	4300	6503	SO:0001819	synonymous_variant	5157					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	g.chr8:17447026G>A	D37965	CCDS6003.1	8p22-p21.3	2013-01-29			ENSG00000104213	ENSG00000104213		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8805	protein-coding gene	gene with protein product		604584					Standard	NM_006207		Approved	PRLTS	uc003wxr.3	Q15198	OTTHUMG00000130818	ENST00000541323.1:c.105G>A	8.37:g.17447026G>A						PDGFRL_ENST00000251630.6_Silent_p.E35E|PDGFRL_ENST00000398074.3_Silent_p.E35E	p.E35E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN		Colorectal(111;0.0752)	3	550	+			35					A8K085|Q6FH04	Silent	SNP	ENST00000541323.1	37	c.105G>A	CCDS6003.1																																																																																				0.433	PDGFRL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253366.3	NM_006207		16	161	0	0	0	0.520397	0	16	161				
PRDM14	63978	broad.mit.edu	37	8	70978696	70978696	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:70978696T>C	ENST00000276594.2	-	5	1158	c.957A>G	c.(955-957)ggA>ggG	p.G319G		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	319	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCCCCGTACCTCCTTTTCCAT	0.403																																					NSCLC(129;99 1813 5906 40656 46114)	ENST00000276594.2																			0				NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)ggA>ggG		PR domain containing 14							114.0	115.0	114.0					8																	70978696		2203	4300	6503	SO:0001819	synonymous_variant	63978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:70978696T>C	AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.957A>G	8.37:g.70978696T>C							p.G319G	NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)		5	1158	-	Breast(64;0.193)		319			SET.		Q86UX9	Silent	SNP	ENST00000276594.2	37	c.957A>G	CCDS6206.1																																																																																				0.403	PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1			3	181	0	0	0	0.115264	0	3	181				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	81	0	0	0	0.115264	0	3	81				
PCDH15	65217	broad.mit.edu	37	10	55587261	55587261	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr10:55587261G>T	ENST00000320301.6	-	32	4653	c.4259C>A	c.(4258-4260)cCc>cAc	p.P1420H	PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1427H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000463095.1_5'UTR	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1420					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTTAGCCGCGGGTAATGCGGC	0.547										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4279-4281)cCc>cAc		protocadherin-related 15							83.0	87.0	85.0					10																	55587261		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587261G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4259C>A	10.37:g.55587261G>T	ENSP00000322604:p.Pro1420His	HNSCC(58;0.16)				PCDH15_ENST00000437009.1_Missense_Mutation_p.P1349H|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1422H|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1395H|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1380H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1417H|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1420H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P1420H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P1031H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1420H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1427H|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395442.1_Intron	p.P1427H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4674	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1420					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4280C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898039	0.72639	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;D	0.81821	2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;2.43;-1.54	5.5	5.5	0.81552	.	.	.	.	.	D	0.85186	0.5639	L	0.32530	0.975	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.999;0.999;0.999;1.0;0.999;0.998;0.999;0.998;0.998;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.79784	0.95;0.95;0.95;0.95;0.993;0.95;0.95;0.94;0.935;0.935;0.959;0.968;0.95	D	0.86486	0.1794	9	0.87932	D	0	.	17.5349	0.87827	0.0:0.0:1.0:0.0	.	1395;1420;1420;1425;1349;1380;1417;1420;1427;1427;1420;1422;1420	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	H	1427;1422;1420;1420;1031;1427;1380;1420;1395;1420;1417;1425;1349	ENSP00000363076:P1427H;ENSP00000410304:P1422H;ENSP00000378826:P1420H;ENSP00000386693:P1031H;ENSP00000378832:P1427H;ENSP00000378820:P1380H;ENSP00000354950:P1420H;ENSP00000378821:P1395H;ENSP00000322604:P1420H;ENSP00000378818:P1417H;ENSP00000412628:P1349H	ENSP00000322604:P1420H	P	-	2	0	PCDH15	55257267	1.000000	0.71417	0.071000	0.20095	0.417000	0.31264	8.670000	0.91168	2.739000	0.93911	0.491000	0.48974	CCC		0.547	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	85	1	0	6.00712e-18	0.760397	7.26668e-18	28	85				
ZNF217	7764	broad.mit.edu	37	20	52198352	52198352	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:52198352C>T	ENST00000371471.2	-	2	1439	c.1014G>A	c.(1012-1014)aaG>aaA	p.K338K	ZNF217_ENST00000302342.3_Silent_p.K338K|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	338					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CACAACTGCCCTTATTTGTTT	0.542																																						ENST00000371471.2																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(1012-1014)aaG>aaA		zinc finger protein 217							125.0	127.0	126.0					20																	52198352		2203	4300	6503	SO:0001819	synonymous_variant	7764				negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:52198352C>T	AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1014G>A	20.37:g.52198352C>T						ZNF217_ENST00000302342.3_Silent_p.K338K	p.K338K			O75362	ZN217_HUMAN	BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)		2	1439	-	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		338					E1P5Y6|Q14DB8	Silent	SNP	ENST00000371471.2	37	c.1014G>A	CCDS13443.1																																																																																				0.542	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079757.2	NM_006526		14	112	0	0	0	0.539581	0	14	112				
CSMD3	114788	broad.mit.edu	37	8	113249577	113249577	+	Splice_Site	SNP	A	A	G			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:113249577A>G	ENST00000297405.5	-	67	10713	c.10469T>C	c.(10468-10470)gTt>gCt	p.V3490A	CSMD3_ENST00000455883.2_Splice_Site_p.V3321A|CSMD3_ENST00000343508.3_Splice_Site_p.V3450A|CSMD3_ENST00000352409.3_Splice_Site_p.V3420A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3490						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCATCAGGAACTGTGAATAG	0.284										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e67-1		CUB and Sushi multiple domains 3							95.0	90.0	92.0					8																	113249577		2203	4299	6502	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113249577A>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10469-1T>C	8.37:g.113249577A>G		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Splice_Site_p.V3321_splice|CSMD3_ENST00000352409.3_Splice_Site_p.V3420_splice|CSMD3_ENST00000343508.3_Splice_Site_p.V3450_splice	p.V3490_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			67	10713	-			3490					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.10468_splice	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614423	0.28712	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.34472	1.68;1.67;1.74;1.36;1.73	4.77	4.77	0.60923	.	0.088428	0.45126	D	0.000386	T	0.57710	0.2072	M	0.71206	2.165	0.49051	D	0.999746	D;D;B	0.67145	0.996;0.995;0.175	D;D;B	0.72625	0.941;0.978;0.084	T	0.59172	-0.7504	10	0.44086	T	0.13	.	14.4524	0.67394	1.0:0.0:0.0:0.0	.	3321;3490;3450	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	A	3450;3490;2760;3321;3420	ENSP00000345799:V3450A;ENSP00000297405:V3490A;ENSP00000341558:V2760A;ENSP00000412263:V3321A;ENSP00000343124:V3420A	ENSP00000297405:V3490A	V	-	2	0	CSMD3	113318753	1.000000	0.71417	1.000000	0.80357	0.203000	0.24098	9.109000	0.94291	1.996000	0.58369	0.383000	0.25322	GTT		0.284	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Missense_Mutation	5	43	0	0	0	0.217242	0	5	43				
ACCS	84680	broad.mit.edu	37	11	44100335	44100335	+	Splice_Site	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr11:44100335G>T	ENST00000263776.8	+	9	1267		c.e9+1			NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)						biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)	p.?(2)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTGCCAAGAGGTGAGGCACCC	0.577																																					Esophageal Squamous(158;148 1889 8077 23160 41213)	ENST00000263776.8																			2	Unknown(2)	p.?(2)	lung(2)	breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						c.e9+1		1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)							58.0	48.0	51.0					11																	44100335		2203	4300	6503	SO:0001630	splice_region_variant	84680						1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr11:44100335G>T	AY026508	CCDS7907.1	11p11	2008-03-12	2008-01-28		ENSG00000110455	ENSG00000110455			23989	protein-coding gene	gene with protein product		608405				11470512	Standard	NM_032592		Approved	PHACS, ACS	uc009yks.1	Q96QU6	OTTHUMG00000166427	ENST00000263776.8:c.833+1G>T	11.37:g.44100335G>T								NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN			9	1267	+								B4E219|Q8WUL4|Q96LX5	Splice_Site	SNP	ENST00000263776.8	37		CCDS7907.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.431736	0.83776	.	.	ENSG00000110455	ENST00000263776	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.679	0.88237	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ACCS	44056911	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.594000	0.90836	2.695000	0.91970	0.655000	0.94253	.		0.577	ACCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389721.1	NM_032592	Intron	11	27	1	0	0.00136819	0.411799	0.00150904	11	27				
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs202140854	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		CTTACATCCAGCTTGAGTAGT	0.259																																						ENST00000546471.1																			0																																																			0							g.chr16:21817457G>A			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817457G>A														0	1601	-								A8K6T4|B3KWX9|O75704	RNA	SNP	ENST00000546471.1	37																																																																																						0.259	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		3	23	0	0	0	0.150653	0	3	23				
ZFHX3	463	broad.mit.edu	37	16	72821618	72821618	+	Silent	SNP	A	A	G	rs369119448|rs112443847		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr16:72821618A>G	ENST00000268489.5	-	10	11229	c.10557T>C	c.(10555-10557)ggT>ggC	p.G3519G	RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2605G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3519	Poly-Gly.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.G3519G(3)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cgccgccgccaccgccgccgc	0.716																																						ENST00000268489.5																			3	Substitution - coding silent(3)	p.G3519G(3)	lung(2)|prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(10555-10557)ggT>ggC		zinc finger homeobox 3							9.0	13.0	11.0					16																	72821618		1463	3169	4632	SO:0001819	synonymous_variant	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72821618A>G	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10557T>C	16.37:g.72821618A>G						ZFHX3_ENST00000397992.5_Silent_p.G2605G|AC004943.1_ENST00000584072.1_RNA	p.G3519G	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	11229	-		Ovarian(137;0.13)	3519			Poly-Gly.		D3DWS8|O15101|Q13719	Silent	SNP	ENST00000268489.5	37	c.10557T>C	CCDS10908.1																																																																																				0.716	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		3	24	0	0	0	0.115264	0	3	24				
TOPORS	10210	broad.mit.edu	37	9	32543932	32543932	+	Silent	SNP	A	A	C	rs546261326		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr9:32543932A>C	ENST00000360538.2	-	3	707	c.591T>G	c.(589-591)ggT>ggG	p.G197G	TOPORS_ENST00000379858.1_Silent_p.G132G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	197	Required for DNA-binding.				cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TGTTCACAGGACCACTAGGTG	0.443																																						ENST00000360538.2																			0				large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(589-591)ggT>ggG		topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase							121.0	107.0	112.0					9																	32543932		2203	4300	6503	SO:0001819	synonymous_variant	10210				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:32543932A>C	AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.591T>G	9.37:g.32543932A>C						TOPORS_ENST00000379858.1_Silent_p.G132G	p.G197G	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)	3	707	-			197			Required for DNA-binding.		O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	c.591T>G	CCDS6527.1																																																																																				0.443	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802		7	58	0	0	0	0.335167	0	7	58				
ENPEP	2028	broad.mit.edu	37	4	111397722	111397722	+	Missense_Mutation	SNP	C	C	T	rs199759636		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:111397722C>T	ENST00000265162.5	+	1	494	c.152C>T	c.(151-153)cCg>cTg	p.P51L		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	51					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		GACGGCGGGCCGGGCACTGCG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14464	0.0		0.0	False		,,,				2504	0.001					ENST00000265162.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(151-153)cCg>cTg		glutamyl aminopeptidase (aminopeptidase A)	L-Glutamic Acid(DB00142)						134.0	131.0	132.0					4																	111397722		2203	4300	6503	SO:0001583	missense	2028				cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	g.chr4:111397722C>T	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.152C>T	4.37:g.111397722C>T	ENSP00000265162:p.Pro51Leu						p.P51L	NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	1	494	+		Hepatocellular(203;0.217)	51					Q504U2	Missense_Mutation	SNP	ENST00000265162.5	37	c.152C>T	CCDS3691.1	.	.	.	.	.	.	.	.	.	.	C	9.046	0.990802	0.18966	.	.	ENSG00000138792	ENST00000265162	T	0.01304	5.03	4.8	-1.22	0.09494	.	1.690290	0.03521	N	0.221057	T	0.01353	0.0044	N	0.12182	0.205	0.09310	N	0.999999	B	0.13145	0.007	B	0.09377	0.004	T	0.50197	-0.8856	10	0.20046	T	0.44	.	13.9422	0.64062	0.4785:0.5215:0.0:0.0	.	51	Q07075	AMPE_HUMAN	L	51	ENSP00000265162:P51L	ENSP00000265162:P51L	P	+	2	0	ENPEP	111617171	.	.	0.001000	0.08648	0.007000	0.05969	.	.	-0.457000	0.07033	0.313000	0.20887	CCG		0.647	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255747.2			4	149	0	0	0	0.150653	0	4	149				
ZC3H12D	340152	broad.mit.edu	37	6	149773804	149773804	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr6:149773804G>T	ENST00000409806.3	-	5	1053	c.735C>A	c.(733-735)ttC>ttA	p.F245L	ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000389942.5_Missense_Mutation_p.F245L			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	245					negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		TCCTGCTCAGGAAGTTGCTCA	0.612																																						ENST00000389942.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						c.(733-735)ttC>ttA		zinc finger CCCH-type containing 12D							35.0	41.0	39.0					6																	149773804		1914	4116	6030	SO:0001583	missense	340152					cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding	g.chr6:149773804G>T			6q25.1	2012-07-05	2005-06-30	2005-06-30	ENSG00000178199	ENSG00000178199		"""Zinc fingers, CCCH-type domain containing"""	21175	protein-coding gene	gene with protein product	"""MCP induced protein 4"""	611106	"""chromosome 6 open reading frame 95"""	C6orf95		18178554	Standard	NM_207360		Approved	dJ281H8.1, MCPIP4	uc010kid.3	A2A288	OTTHUMG00000015786	ENST00000409806.3:c.735C>A	6.37:g.149773804G>T	ENSP00000386616:p.Phe245Leu					ZC3H12D_ENST00000409806.3_Missense_Mutation_p.F245L|ZC3H12D_ENST00000416573.2_Missense_Mutation_p.F245L|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.F245L	p.F245L			A2A288	ZC12D_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)	5	982	-		Ovarian(120;0.0907)	245					A1L178|B2RXF4|B7WNU7|B9ZZP9|B9ZZQ0|Q6ZRW2	Missense_Mutation	SNP	ENST00000409806.3	37	c.735C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.249753|4.249753	0.80024|0.80024	.|.	.|.	ENSG00000178199|ENSG00000178199	ENST00000389942;ENST00000416573;ENST00000409806;ENST00000542614|ENST00000458251	T;T;T;T|.	0.44482|.	0.92;1.2;0.92;1.27|.	4.6|4.6	2.67|2.67	0.31697|0.31697	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47210|0.47210	0.1433|0.1433	L|L	0.61036|0.61036	1.89|1.89	0.39714|0.39714	D|D	0.971373|0.971373	D;D|.	0.69078|.	0.997;0.997|.	D;D|.	0.75020|.	0.985;0.97|.	T|T	0.46830|0.46830	-0.9163|-0.9163	10|5	0.87932|.	D|.	0|.	-20.3148|-20.3148	7.5599|7.5599	0.27845|0.27845	0.3585:0.0:0.6415:0.0|0.3585:0.0:0.6415:0.0	.|.	245;245|.	A2A288;B7WNU7|.	ZC12D_HUMAN;.|.	L|T	245|87	ENSP00000374592:F245L;ENSP00000408686:F245L;ENSP00000386616:F245L;ENSP00000440813:F245L|.	ENSP00000374592:F245L|.	F|P	-|-	3|1	2|0	ZC3H12D|ZC3H12D	149815497|149815497	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	1.344000|1.344000	0.33941|0.33941	1.095000|1.095000	0.41419|0.41419	0.561000|0.561000	0.74099|0.74099	TTC|CCT		0.612	ZC3H12D-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000286400.2	NM_207360		4	15	1	0	0.0293803	0.248553	0.0314789	4	15				
OR2M4	26245	broad.mit.edu	37	1	248403030	248403030	+	Missense_Mutation	SNP	C	C	T	rs144697226	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:248403030C>T	ENST00000306687.1	+	1	800	c.800C>T	c.(799-801)aCg>aTg	p.T267M		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	267					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T267M(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTAAACATACGCCAGACCAG	0.517													t|||	11	0.00219649	0.0045	0.0014	5008	,	,		18038	0.0		0.0	False		,,,				2504	0.0041					ENST00000306687.1																			2	Substitution - Missense(2)	p.T267M(2)	large_intestine(1)|endometrium(1)	NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50						c.(799-801)aCg>aTg		olfactory receptor, family 2, subfamily M, member 4		T	MET/THR	29,4377	823.6+/-416.5	0,29,2174	131.0	113.0	119.0		800	1.4	0.0	1	dbSNP_134	119	1,8599	819.2+/-406.8	0,1,4299	yes	missense	OR2M4	NM_017504.1	81	0,30,6473	TT,TC,CC		0.0116,0.6582,0.2307	probably-damaging	267/312	248403030	30,12976	2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248403030C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.800C>T	1.37:g.248403030C>T	ENSP00000306688:p.Thr267Met						p.T267M	NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	800	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		267					Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.800C>T	CCDS31108.1	3	0.0013736263736263737	2	0.0040650406504065045	1	0.0027624309392265192	0	0.0	0	0.0	t	7.287	0.610196	0.14066	0.006582	1.16E-4	ENSG00000171180	ENST00000306687	T	0.00130	8.69	3.34	1.42	0.22433	GPCR, rhodopsin-like superfamily (1);	2.248960	0.02593	N	0.100179	T	0.00210	0.0006	L	0.45228	1.405	0.09310	N	1	D	0.71674	0.998	D	0.65140	0.932	T	0.50742	-0.8792	10	0.72032	D	0.01	.	3.4528	0.07505	0.298:0.4908:0.0:0.2112	.	267	Q96R27	OR2M4_HUMAN	M	267	ENSP00000306688:T267M	ENSP00000306688:T267M	T	+	2	0	OR2M4	246469653	0.000000	0.05858	0.002000	0.10522	0.027000	0.11550	-0.096000	0.11059	0.238000	0.21222	-1.215000	0.01618	ACG		0.517	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		12	93	0	0	0	0.435327	0	12	93				
UST	10090	broad.mit.edu	37	6	149262511	149262511	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr6:149262511G>A	ENST00000367463.4	+	3	491	c.388G>A	c.(388-390)Gga>Aga	p.G130R		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	130					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		GGAGAAGCACGGATTTAATTT	0.433																																						ENST00000367463.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12						c.(388-390)Gga>Aga		uronyl-2-sulfotransferase							195.0	179.0	184.0					6																	149262511		2203	4300	6503	SO:0001583	missense	10090				protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity	g.chr6:149262511G>A	AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.388G>A	6.37:g.149262511G>A	ENSP00000356433:p.Gly130Arg						p.G130R	NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)	3	491	+		Ovarian(120;0.0907)	130					B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	c.388G>A	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669523	0.67814	.	.	ENSG00000111962	ENST00000367463	T	0.47177	0.85	5.85	5.85	0.93711	.	0.109140	0.64402	D	0.000004	T	0.38746	0.1052	L	0.45285	1.41	0.54753	D	0.999988	P	0.39831	0.69	B	0.43889	0.435	T	0.09707	-1.0662	10	0.32370	T	0.25	-17.9166	20.1588	0.98128	0.0:0.0:1.0:0.0	.	130	Q9Y2C2	UST_HUMAN	R	130	ENSP00000356433:G130R	ENSP00000356433:G130R	G	+	1	0	UST	149304204	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	4.789000	0.62446	2.770000	0.95276	0.563000	0.77884	GGA		0.433	UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715		56	136	0	0	0	0.870114	0	56	136				
PLCD3	113026	broad.mit.edu	37	17	43209630	43209630	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:43209630C>T	ENST00000322765.5	-	1	261	c.148G>A	c.(148-150)Gcg>Acg	p.A50T	ACBD4_ENST00000591859.1_5'Flank|PLCD3_ENST00000540511.1_5'UTR|ACBD4_ENST00000431281.1_5'Flank	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	50					angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						TTCTTCAGCGCCCGCAGCCCG	0.741																																						ENST00000322765.5																			0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(148-150)Gcg>Acg		phospholipase C, delta 3	Phosphatidylserine(DB00144)						4.0	5.0	5.0					17																	43209630		1756	3941	5697	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43209630C>T	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.148G>A	17.37:g.43209630C>T	ENSP00000313731:p.Ala50Thr					PLCD3_ENST00000540511.1_5'UTR	p.A50T	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN			1	261	-			50					Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.148G>A		.	.	.	.	.	.	.	.	.	.	C	15.17	2.753774	0.49362	.	.	ENSG00000161714	ENST00000322765	T	0.19105	2.17	3.95	3.95	0.45737	.	2.000530	0.02902	U	0.135485	T	0.15003	0.0362	.	.	.	0.32758	N	0.505499	B	0.27498	0.18	B	0.24155	0.051	T	0.12708	-1.0537	9	0.14252	T	0.57	.	11.5011	0.50437	0.0:1.0:0.0:0.0	.	50	Q8N3E9	PLCD3_HUMAN	T	50	ENSP00000313731:A50T	ENSP00000313731:A50T	A	-	1	0	PLCD3	40565156	0.989000	0.36119	0.998000	0.56505	0.992000	0.81027	2.269000	0.43346	1.746000	0.51805	0.442000	0.29010	GCG		0.741	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_133373		3	14	0	0	0	0.184627	0	3	14				
SPATA16	83893	broad.mit.edu	37	3	172835445	172835445	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:172835445T>C	ENST00000351008.3	-	2	260	c.77A>G	c.(76-78)aAc>aGc	p.N26S		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	26					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTTGCTTGTGTTTATCTTTGG	0.433																																						ENST00000351008.3																			0				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43						c.(76-78)aAc>aGc		spermatogenesis associated 16							234.0	217.0	222.0					3																	172835445		2203	4300	6503	SO:0001583	missense	83893				cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	g.chr3:172835445T>C	AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.77A>G	3.37:g.172835445T>C	ENSP00000341765:p.Asn26Ser						p.N26S	NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)		2	260	-	Ovarian(172;0.00319)|Breast(254;0.197)		26					Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	ENST00000351008.3	37	c.77A>G	CCDS3221.1	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215686	0.58452	.	.	ENSG00000144962	ENST00000351008	T	0.16897	2.31	5.02	5.02	0.67125	.	0.113678	0.40222	N	0.001157	T	0.13243	0.0321	L	0.27053	0.805	0.30859	N	0.733733	B	0.28636	0.218	B	0.25291	0.059	T	0.06752	-1.0809	10	0.59425	D	0.04	-8.3627	13.1337	0.59397	0.0:0.0:0.0:1.0	.	26	Q9BXB7	SPT16_HUMAN	S	26	ENSP00000341765:N26S	ENSP00000341765:N26S	N	-	2	0	SPATA16	174318139	0.999000	0.42202	1.000000	0.80357	0.971000	0.66376	3.042000	0.49815	2.096000	0.63516	0.528000	0.53228	AAC		0.433	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955		7	198	0	0	0	0.278610	0	7	198				
DNAH5	1767	broad.mit.edu	37	5	13735947	13735947	+	Silent	SNP	T	T	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr5:13735947T>C	ENST00000265104.4	-	67	11654	c.11550A>G	c.(11548-11550)ttA>ttG	p.L3850L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3850					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAAGGTCAAATAAGCCCAGAA	0.453									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(11548-11550)ttA>ttG		dynein, axonemal, heavy chain 5							126.0	118.0	120.0					5																	13735947		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13735947T>C	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.11550A>G	5.37:g.13735947T>C							p.L3850L	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			67	11654	-	Lung NSC(4;0.00476)		3850					Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.11550A>G	CCDS3882.1																																																																																				0.453	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		6	142	0	0	0	0.307466	0	6	142				
CENPE	1062	broad.mit.edu	37	4	104041395	104041395	+	Silent	SNP	C	C	T			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:104041395C>T	ENST00000265148.3	-	44	7328	c.7239G>A	c.(7237-7239)gtG>gtA	p.V2413V	CENPE_ENST00000380026.3_Silent_p.V2292V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2413	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTCATTAGTCACCTCAAGTT	0.323																																						ENST00000265148.3																			0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(7237-7239)gtG>gtA		centromere protein E, 312kDa							184.0	154.0	164.0					4																	104041395		2203	4300	6503	SO:0001819	synonymous_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104041395C>T	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.7239G>A	4.37:g.104041395C>T						CENPE_ENST00000380026.3_Silent_p.V2292V	p.V2413V	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	44	7328	-			2413			Kinetochore-binding domain.		A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	c.7239G>A	CCDS34042.1																																																																																				0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				5	18	0	0	0	0.184627	0	5	18				
ATP6V0B	533	broad.mit.edu	37	1	44442867	44442867	+	Silent	SNP	G	G	C			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:44442867G>C	ENST00000472174.2	+	7	963	c.570G>C	c.(568-570)ggG>ggC	p.G190G	B4GALT2_ENST00000356836.6_5'Flank|B4GALT2_ENST00000309519.7_5'Flank|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000471859.2_Silent_p.G237G|ATP6V0B_ENST00000532642.1_Silent_p.G190G|B4GALT2_ENST00000434555.2_5'Flank|B4GALT2_ENST00000372324.1_5'Flank|ATP6V0B_ENST00000236067.4_Silent_p.G143G	NM_004047.3	NP_004038.1	Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	190					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|phagocytic vesicle membrane (GO:0030670)|proton-transporting V-type ATPase, V0 domain (GO:0033179)|vacuole (GO:0005773)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCCTCTTTGGGGTCATCGTCG	0.557																																						ENST00000532642.1																			0				breast(2)|kidney(1)|large_intestine(3)|lung(3)	9						c.(568-570)ggG>ggC		ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b							83.0	87.0	86.0					1																	44442867		2203	4300	6503	SO:0001819	synonymous_variant	533				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	g.chr1:44442867G>C	BC000423	CCDS505.1, CCDS41315.1, CCDS72772.1	1p32.3	2010-04-21	2006-01-20	2002-05-10	ENSG00000117410	ENSG00000117410		"""ATPases / V-type"""	861	protein-coding gene	gene with protein product		603717	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 21kD"", ""ATPase, H+ transporting, lysosomal 21kDa, V0 subunit c''"""	ATP6F		9653649	Standard	XM_005270944		Approved	VMA16, HATPL	uc001cld.3	Q99437	OTTHUMG00000008298	ENST00000472174.2:c.570G>C	1.37:g.44442867G>C						ATP6V0B_ENST00000472174.2_Silent_p.G190G|ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000236067.4_Silent_p.G143G|ATP6V0B_ENST00000498664.1_Silent_p.G143G|ATP6V0B_ENST00000471859.2_Silent_p.G237G	p.G190G			Q99437	VATO_HUMAN			7	667	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	190					D3DPY5|Q6IB32	Silent	SNP	ENST00000472174.2	37	c.570G>C	CCDS505.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057577	0.19907	.	.	ENSG00000117410	ENST00000440531	.	.	.	5.1	1.8	0.24995	.	0.000000	0.85682	D	0.000000	T	0.58308	0.2113	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57136	-0.7863	6	0.87932	D	0	-7.1888	4.056	0.09816	0.0763:0.1333:0.3821:0.4083	.	.	.	.	A	32	.	ENSP00000408413:G32A	G	+	2	0	ATP6V0B	44215454	0.057000	0.20700	1.000000	0.80357	0.999000	0.98932	-0.623000	0.05546	0.470000	0.27294	0.655000	0.94253	GGG		0.557	ATP6V0B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022854.2	NM_004047		26	82	0	0	0	0.740014	0	26	82				
UGT2B7	7364	broad.mit.edu	37	4	69973826	69973826	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr4:69973826C>A	ENST00000305231.7	+	5	1142	c.1096C>A	c.(1096-1098)Cca>Aca	p.P366T	UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	366					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CCTAGGTCATCCAAAGACCAG	0.418																																						ENST00000305231.7																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1096-1098)Cca>Aca		UDP glucuronosyltransferase 2 family, polypeptide B7							87.0	89.0	88.0					4																	69973826		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69973826C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1096C>A	4.37:g.69973826C>A	ENSP00000304811:p.Pro366Thr					UGT2B7_ENST00000508661.1_Intron|UGT2B7_ENST00000509763.1_Intron	p.P366T	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN			5	1142	+			366					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1096C>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.720781	0.30503	.	.	ENSG00000171234	ENST00000502942;ENST00000305231	T;T	0.68479	-0.33;-0.33	2.72	2.72	0.32119	.	0.000000	0.64402	U	0.000001	T	0.80854	0.4703	H	0.96048	3.76	0.80722	D	1	P	0.45986	0.87	P	0.50049	0.629	D	0.86013	0.1502	9	.	.	.	.	11.1821	0.48633	0.0:1.0:0.0:0.0	.	366	P16662	UD2B7_HUMAN	T	117;366	ENSP00000426206:P117T;ENSP00000304811:P366T	.	P	+	1	0	UGT2B7	70008415	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	4.053000	0.57427	1.516000	0.48900	0.491000	0.48974	CCA		0.418	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		23	82	1	0	3.73988e-18	0.706142	4.59822e-18	23	82				
WDR26	80232	broad.mit.edu	37	1	224621773	224621775	+	In_Frame_Del	DEL	CCT	CCT	-	rs561995973		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr1:224621773_224621775delCCT	ENST00000414423.2	-	1	226_228	c.33_35delAGG	c.(31-36)ggaggt>ggt	p.11_12GG>G	WDR26_ENST00000366852.2_In_Frame_Del_p.11_12GG>G|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		gccgccgccacctcctcctcctc	0.739																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(31-36)ggt>gg		WD repeat domain 26			,	19,1361		5,9,676					,	-5.4	1.0			2	42,3026		12,18,1504	no	coding,coding	WDR26	NM_025160.6,NM_001115113.2	,	17,27,2180	A1A1,A1R,RR		1.369,1.3768,1.3714	,	,		61,4387				SO:0001651	inframe_deletion	80232					cytoplasm|nucleus		g.chr1:224621773_224621775delCCT	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.33_35delAGG	1.37:g.224621782_224621784delCCT	ENSP00000408108:p.Gly25del					WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_In_Frame_Del_p.GG23del	p.GG23del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	1	226_228	-			23					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	In_Frame_Del	DEL	ENST00000414423.2	37	c.33_35delAGG	CCDS31037.2																																																																																				0.739	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		3	3						3	3	---	---	---	---
PLEKHA3	65977	broad.mit.edu	37	2	179343217	179343217	+	5'Flank	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr2:179343217delT	ENST00000234453.5	+	0	0				FKBP7_ENST00000424785.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAATGCATGGTTTTTGGCATC	0.522																																						ENST00000424785.2																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						c.(10-12)ccfs		FK506 binding protein 7							113.0	133.0	127.0					2																	179343217		2202	4300	6502	SO:0001631	upstream_gene_variant	51661				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:179343217delT	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446		2.37:g.179343217delT	Exception_encountered					FKBP7_ENST00000434643.2_Frame_Shift_Del_p.T4fs|FKBP7_ENST00000464248.1_5'UTR	p.T4fs	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)		1	68	-			4					Q4ZG69|Q86TQ1|Q9NXT3	Frame_Shift_Del	DEL	ENST00000234453.5	37	c.10delA	CCDS33336.1																																																																																				0.522	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	NM_019091		7	303						7	303	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gaafs	p.E236fs	KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(706-708)gafs		KIAA1257							136.0	130.0	132.0					3																	128696988		1876	4099	5975	SO:0001589	frameshift_variant	57501							g.chr3:128696988delT	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.708delA	3.37:g.128696988delT	ENSP00000265068:p.Glu236fs					KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs	p.E236fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			5	875	-			236					Q8IXY7|Q8N5T4	Frame_Shift_Del	DEL	ENST00000265068.5	37	c.708delA	CCDS46905.1																																																																																				0.358	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		7	66						7	66	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			7	372						7	372	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	6						3	6	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)	ENST00000369755.3																			0				kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8						c.(43-48)gag>g		STE20-like kinase																																				SO:0001651	inframe_deletion	9748				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity	g.chr10:105727547_105727549delAGA		CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del					SLK_ENST00000335753.4_In_Frame_Del_p.EK15del	p.EK15del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	1	589_591	+		Colorectal(252;0.178)	15					D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	ENST00000369755.3	37	c.44_46delAGA	CCDS7553.1																																																																																				0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720		8	139						8	139	---	---	---	---
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr13:23914687delT	ENST00000382292.3	-	9	3601	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_ENST00000382298.3_Frame_Shift_Del_p.I1110fs|SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1110					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(3328-3330)ttfs		spastic ataxia of Charlevoix-Saguenay (sacsin)							187.0	198.0	194.0					13																	23914687		2203	4300	6503	SO:0001589	frameshift_variant	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23914687delT	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.3328delA	13.37:g.23914687delT	ENSP00000371729:p.Ile1110fs					SACS_ENST00000402364.1_Frame_Shift_Del_p.I360fs|SACS_ENST00000382292.3_Frame_Shift_Del_p.I1110fs	p.I1110fs	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	3916	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	1110					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Frame_Shift_Del	DEL	ENST00000382292.3	37	c.3328delA	CCDS9300.2																																																																																				0.383	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		9	329						9	329	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			0							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			4	3						4	3	---	---	---	---
LOC101927093	101927093	broad.mit.edu	37	17	28901676	28901676	+	RNA	DEL	C	C	-	rs548575804		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:28901676delC	ENST00000583030.1	+	0	0				AC006050.2_ENST00000436477.2_RNA																							tgctgccccaccccccctcca	0.617																																						ENST00000436477.2																			0																																																			0							g.chr17:28901676delC																													17.37:g.28901676delC														0	995	-									RNA	DEL	ENST00000583030.1	37																																																																																						0.617	AC005562.1-005	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000444252.1			3	4						3	4	---	---	---	---
DDX42	11325	broad.mit.edu	37	17	61899155	61899157	+	IGR	DEL	CTC	CTC	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chr17:61899155_61899157delCTC	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_In_Frame_Del_p.E508del	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GCAGTGGATTCTCCTCCTCCTCC	0.537																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(1522-1524)del		FtsJ homolog 3 (E. coli)				1,4263		0,1,2131						5.2	1.0			197	2,8252		0,2,4125	no	coding	FTSJ3	NM_017647.3		0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024				3,12515				SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61899155_61899157delCTC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61899164_61899166delCTC							p.E508del	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			15	2167_2169	-			508					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	In_Frame_Del	DEL	ENST00000578681.1	37	c.1522_1524delGAG	CCDS32704.1																																																																																				0.537	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		9	225						9	225	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-10A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	2c4f634f-c147-49c3-b5d3-77175dc269cb	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1379					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		9	Whole gene deletion(6)|Complex(2)|Complex - frameshift(1)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)	central_nervous_system(3)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4135-4137)aafs		lysine (K)-specific demethylase 6A							140.0	130.0	133.0					X																	44969453		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969453delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4135delA	X.37:g.44969453delA	ENSP00000367203:p.Lys1379fs					KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs	p.K1379fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4176	+			1379					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.4135delA	CCDS14265.1																																																																																				0.388	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		63	22						63	22	---	---	---	---
WDR26	80232	broad.mit.edu	37	1	224621773	224621775	+	In_Frame_Del	DEL	CCT	CCT	-	rs561995973		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr1:224621773_224621775delCCT	ENST00000414423.2	-	1	226_228	c.33_35delAGG	c.(31-36)ggaggt>ggt	p.11_12GG>G	WDR26_ENST00000366852.2_In_Frame_Del_p.11_12GG>G|WDR26_ENST00000295024.6_5'UTR	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	11						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		gccgccgccacctcctcctcctc	0.739																																						ENST00000414423.2																			0				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18						c.(31-36)ggt>gg		WD repeat domain 26			,	19,1361		5,9,676					,	-5.4	1.0			2	42,3026		12,18,1504	no	coding,coding	WDR26	NM_025160.6,NM_001115113.2	,	17,27,2180	A1A1,A1R,RR		1.369,1.3768,1.3714	,	,		61,4387				SO:0001651	inframe_deletion	80232					cytoplasm|nucleus		g.chr1:224621773_224621775delCCT	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.33_35delAGG	1.37:g.224621782_224621784delCCT	ENSP00000408108:p.Gly25del					WDR26_ENST00000366852.2_In_Frame_Del_p.GG23del|WDR26_ENST00000295024.6_5'UTR	p.GG23del	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN		GBM - Glioblastoma multiforme(131;0.0104)	1	226_228	-			23					A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	In_Frame_Del	DEL	ENST00000414423.2	37	c.33_35delAGG	CCDS31037.2																																																																																				0.739	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160		3	3						3	3	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910378	2910379	+	lincRNA	INS	-	-	C	rs72051156	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr2:2910378_2910379insC	ENST00000457478.1	-	0	594																											ACAGCCGCCCACCCTACACCTT	0.639													CCC|CCC|CCCC|insertion	2749	0.548922	0.1778	0.6657	5008	,	,		8371	0.6825		0.6809	False		,,,				2504	0.6943					ENST00000457478.1																			0																																																			0							g.chr2:2910378_2910379insC																													2.37:g.2910381_2910381dupC														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.639	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			2	4						2	4	---	---	---	---
KIAA1257	57501	broad.mit.edu	37	3	128696988	128696988	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr3:128696988delT	ENST00000265068.5	-	5	875	c.708delA	c.(706-708)gaafs	p.E236fs	KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000510149.1_5'UTR	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358																																						ENST00000265068.5																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						c.(706-708)gafs		KIAA1257							136.0	130.0	132.0					3																	128696988		1876	4099	5975	SO:0001589	frameshift_variant	57501							g.chr3:128696988delT	AB033083	CCDS46905.1	3q21.3	2011-11-07			ENSG00000114656	ENSG00000114656			29231	protein-coding gene	gene with protein product						10574462	Standard	NM_020741		Approved		uc003elj.4	Q9ULG3	OTTHUMG00000159946	ENST00000265068.5:c.708delA	3.37:g.128696988delT	ENSP00000265068:p.Glu236fs					KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Frame_Shift_Del_p.E236fs|KIAA1257_ENST00000515659.1_Frame_Shift_Del_p.E124fs	p.E236fs	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN			5	875	-			236					Q8IXY7|Q8N5T4	Frame_Shift_Del	DEL	ENST00000265068.5	37	c.708delA	CCDS46905.1																																																																																				0.358	KIAA1257-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000358430.1	NM_020741		7	66						7	66	---	---	---	---
LINC00051	619434	broad.mit.edu	37	8	143287465	143287466	+	RNA	INS	-	-	AGGGGC	rs377048380		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr8:143287465_143287466insAGGGGC	ENST00000517704.1	+	0	101					NR_024378.1				long intergenic non-protein coding RNA 51																		GAGACAGCGGAaggggcagggg	0.624																																						ENST00000517704.1																			0																																																			0							g.chr8:143287465_143287466insAGGGGC	BC008253		8q24.3	2012-10-12	2011-08-10	2011-08-10	ENSG00000254008	ENSG00000254008		"""Long non-coding RNAs"""	32028	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 43"", ""non-protein coding RNA 51"""	C8orf43, NCRNA00051			Standard	NR_024378		Approved		uc011ljt.2		OTTHUMG00000164636		8.37:g.143287466_143287471dupAGGGGC								NR_024378.1						0	101	+									RNA	INS	ENST00000517704.1	37																																																																																						0.624	LINC00051-001	KNOWN	basic	antisense	antisense	OTTHUMT00000379474.1			4	8						4	8	---	---	---	---
NUTM2F	54754	broad.mit.edu	37	9	97080945	97080947	+	In_Frame_Del	DEL	AGA	AGA	-	rs150455117|rs112857574	byFrequency	TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr9:97080945_97080947delAGA	ENST00000253262.4	-	7	2091_2093	c.2071_2073delTCT	c.(2071-2073)tctdel	p.S691del	NUTM2F_ENST00000335456.7_Intron|NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	691				Missing (in Ref. 2; AAI30391 and 3; CAB61394). {ECO:0000305}.				p.S557delS(1)									TGCTGGCAGGAGAAGGTGATGGG	0.611														3777	0.754193	0.6051	0.8084	5008	,	,		15297	0.8869		0.7227	False		,,,				2504	0.8129					ENST00000253262.4																			1	Deletion - In frame(1)	p.S557delS(1)	central_nervous_system(1)								c.(2071-2073)del		NUT family member 2F				2288,1260		619,1050,105						-3.0	0.0		dbSNP_134	20	5646,2060		2048,1550,255	no	coding	FAM22F	NM_017561.1		2667,2600,360	A1A1,A1R,RR		26.7324,35.513,29.5006				7934,3320				SO:0001651	inframe_deletion	54754							g.chr9:97080945_97080947delAGA		CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.2071_2073delTCT	9.37:g.97080945_97080947delAGA	ENSP00000253262:p.Ser691del					NUTM2F_ENST00000341207.4_In_Frame_Del_p.S676del|NUTM2F_ENST00000335456.7_Intron	p.S691del	NM_017561.1	NP_060031.1					7	2091_2093	-								B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	In_Frame_Del	DEL	ENST00000253262.4	37	c.2071_2073delTCT	CCDS47994.1																																																																																				0.611	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053173.2	NM_017561		4	7						4	7	---	---	---	---
LOC101927093	101927093	broad.mit.edu	37	17	28901676	28901676	+	RNA	DEL	C	C	-	rs548575804		TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr17:28901676delC	ENST00000583030.1	+	0	0				AC006050.2_ENST00000436477.2_RNA																							tgctgccccaccccccctcca	0.617																																						ENST00000436477.2																			0																																																			0							g.chr17:28901676delC																													17.37:g.28901676delC														0	995	-									RNA	DEL	ENST00000583030.1	37																																																																																						0.617	AC005562.1-005	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000444252.1			3	4						3	4	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs|PANK2_ENST00000464452.1_3'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141.0	152.0	148.0					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	241						7	241	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44969453	44969453	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EJ-7317-01A-31D-2114-08	TCGA-EJ-7317-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	342033de-29bc-49af-b78f-f05d7e303b22	4a98a524-c610-4237-ae25-5e8fdf17d582	g.chrX:44969453delA	ENST00000377967.4	+	28	4176	c.4135delA	c.(4135-4137)aaafs	p.K1379fs	KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1379					canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AGAACAGTACAAAATGGAGGA	0.388			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		9	Whole gene deletion(6)|Complex(2)|Complex - frameshift(1)	p.0?(6)|p.Y1378fs(2)|p.M1380fs*9(1)	central_nervous_system(3)|oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(4135-4137)aafs		lysine (K)-specific demethylase 6A							140.0	130.0	133.0					X																	44969453		2203	4300	6503	SO:0001589	frameshift_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44969453delA	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.4135delA	X.37:g.44969453delA	ENSP00000367203:p.Lys1379fs					KDM6A_ENST00000479423.1_3'UTR|KDM6A_ENST00000382899.4_Frame_Shift_Del_p.K1386fs|KDM6A_ENST00000543216.1_Frame_Shift_Del_p.K1300fs|KDM6A_ENST00000536777.1_Frame_Shift_Del_p.K1334fs	p.K1379fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			28	4176	+			1379					Q52LL9|Q5JVQ7	Frame_Shift_Del	DEL	ENST00000377967.4	37	c.4135delA	CCDS14265.1																																																																																				0.388	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		63	22						63	22	---	---	---	---
