#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
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		11	114	0	0	0	1	0	11	114				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		7	600	0	0	0	1	0	7	600				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29976918	29976918	+	RNA	SNP	G	G	A	rs557657012	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:29976918G>A	ENST00000376797.3	-	0	761				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTTTCTTCCCGCAGATAGAAA	0.522													G|||	7	0.00139776	0.0045	0.0	5008	,	,		21111	0.0		0.001	False		,,,				2504	0.0					ENST00000376797.3																			0																																																			0							g.chr6:29976918G>A	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29976918G>A						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	761	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.522	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		5	372	0	0	0	1	0	5	372				
TFR2	7036	broad.mit.edu	37	7	100230653	100230653	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:100230653G>A	ENST00000462107.1	-	7	1107	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C			Q9UP52	TFR2_HUMAN	transferrin receptor 2	274					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transferrin receptor activity (GO:0004998)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)				Gallium nitrate(DB05260)	ACCCCCACGCGCACCAGCAGC	0.677																																						ENST00000462107.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(820-822)Cgc>Tgc		transferrin receptor 2							68.0	78.0	74.0					7																	100230653		2200	4295	6495	SO:0001583	missense	7036				cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity	g.chr7:100230653G>A	AF053356	CCDS34707.1	7q22	2003-01-27			ENSG00000106327	ENSG00000106327			11762	protein-coding gene	gene with protein product		604720				9799793, 12130528	Standard	NM_003227		Approved	HFE3, TFRC2	uc003uvv.1	Q9UP52	OTTHUMG00000159598	ENST00000462107.1:c.820C>T	7.37:g.100230653G>A	ENSP00000420525:p.Arg274Cys					TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.R274C|TFR2_ENST00000431692.1_Missense_Mutation_p.R274C	p.R274C			Q9UP52	TFR2_HUMAN			7	1107	-	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		274					A6NGM7|O75422|Q1HE13|Q9HA99|Q9NX67	Missense_Mutation	SNP	ENST00000462107.1	37	c.820C>T	CCDS34707.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473866	0.84640	.	.	ENSG00000106327	ENST00000223051;ENST00000431692;ENST00000462107	T;T;T	0.56275	0.47;0.47;0.47	6.04	6.04	0.98038	Protease-associated domain, PA (1);	0.068447	0.64402	D	0.000012	T	0.79862	0.4519	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.63957	0.92	D	0.84734	0.0747	10	0.87932	D	0	-22.3494	18.073	0.89417	0.0:0.0:1.0:0.0	.	274	Q9UP52	TFR2_HUMAN	C	274	ENSP00000223051:R274C;ENSP00000413905:R274C;ENSP00000420525:R274C	ENSP00000223051:R274C	R	-	1	0	TFR2	100068589	1.000000	0.71417	1.000000	0.80357	0.338000	0.28826	4.562000	0.60816	2.873000	0.98535	0.561000	0.74099	CGC		0.677	TFR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356392.3	NM_003227		10	887	0	0	0	1	0	10	887				
CROCCP3	114819	broad.mit.edu	37	1	16809784	16809784	+	RNA	SNP	T	T	G	rs564105362	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:16809784T>G	ENST00000263511.4	-	0	2001					NR_023386.1		Q8IVE0	CROL2_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 3						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCCGGCACCTTCTCAGGAGCT	0.632													.|||	29	0.00579073	0.0083	0.0043	5008	,	,		12250	0.0069		0.005	False		,,,				2504	0.0031					ENST00000263511.4																			0																																																			0							g.chr1:16809784T>G	AB067509		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000080947	ENSG00000080947			29405	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 2"""	CROCCL2		11572484	Standard	NR_023386		Approved	KIAA1922	uc001ayt.2	Q8IVE0	OTTHUMG00000037885		1.37:g.16809784T>G								NR_023386.1						0	2001	-								Q96PW6	RNA	SNP	ENST00000263511.4	37																																																																																						0.632	CROCCP3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000458172.1	XM_057040		6	50	0	0	0	1	0	6	50				
ZAN	7455	broad.mit.edu	37	7	100350550	100350550	+	RNA	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:100350550T>C	ENST00000348028.3	+	0	2987				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L941P(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACTCACCATCCCC	0.517																																						ENST00000542585.1																			1	Substitution - Missense(1)	p.L941P(1)	prostate(1)	NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							260.0	315.0	297.0					7																	100350550		1856	4091	5947			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350550T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350550T>C						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2970	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	0.203	-1.042681	0.01997	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.58506	0.33;0.33;0.33	2.62	0.819	0.18785	.	.	.	.	.	T	0.28234	0.0697	N	0.01576	-0.805	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20571	-1.0271	9	0.34782	T	0.22	.	10.5034	0.44819	0.0:0.8802:0.0:0.1198	.	941;941	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	941	ENSP00000445943:L941P;ENSP00000445091:L941P;ENSP00000444427:L941P	ENSP00000423579:L941P	L	+	2	0	ZAN	100188486	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-1.679000	0.01940	0.215000	0.20761	-0.721000	0.03606	CTC		0.517	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		6	642	0	0	0	1	0	6	642				
AHNAK2	113146	broad.mit.edu	37	14	105416054	105416054	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:105416054G>A	ENST00000333244.5	-	7	5853	c.5734C>T	c.(5734-5736)Ccc>Tcc	p.P1912S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1912						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.P1912S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAAACTGGGCATATCCACC	0.627																																						ENST00000333244.5																			1	Substitution - Missense(1)	p.P1912S(1)	urinary_tract(1)	cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5734-5736)Ccc>Tcc		AHNAK nucleoprotein 2							124.0	135.0	132.0					14																	105416054		1854	4063	5917	SO:0001583	missense	113146					nucleus		g.chr14:105416054G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5734C>T	14.37:g.105416054G>A	ENSP00000353114:p.Pro1912Ser					AHNAK2_ENST00000557457.1_Intron	p.P1912S	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5853	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1912					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5734C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	14.70	2.614154	0.46631	.	.	ENSG00000185567	ENST00000333244	T	0.03152	4.03	3.41	3.41	0.39046	.	.	.	.	.	T	0.21468	0.0517	M	0.88031	2.925	0.32229	N	0.574173	D	0.89917	1.0	D	0.83275	0.996	T	0.31641	-0.9936	9	0.46703	T	0.11	-18.4713	14.464	0.67470	0.0:0.0:1.0:0.0	.	1912	Q8IVF2	AHNK2_HUMAN	S	1912	ENSP00000353114:P1912S	ENSP00000353114:P1912S	P	-	1	0	AHNAK2	104487099	0.545000	0.26449	0.996000	0.52242	0.111000	0.19643	0.860000	0.27871	1.460000	0.47911	0.485000	0.47835	CCC		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		7	1297	0	0	0	1	0	7	1297				
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000574822.1_5'Flank|CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTAAGGCATGCGGCCCCTGGC	0.493																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(5533-5535)cGc>cAc		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						48.0	49.0	49.0					19																	13338336		1877	4112	5989	SO:0001583	missense	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13338336C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.5534G>A	19.37:g.13338336C>T	ENSP00000353362:p.Arg1845His					CACNA1A_ENST00000573710.2_Intron	p.R1845H	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		37	5533	-			1846					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	c.5534G>A	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	c	24.9	4.580140	0.86645	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018	D	0.96459	-4.02	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000001	D	0.98264	0.9425	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.99581	1.0973	10	0.87932	D	0	.	16.0868	0.81060	0.0:1.0:0.0:0.0	.	1845	Q9NS88	.	H	1845;1851;1846	ENSP00000353362:R1845H	ENSP00000349520:R1846H	R	-	2	0	CACNA1A	13199336	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.764000	0.85297	2.079000	0.62486	0.298000	0.19748	CGC		0.493	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		5	331	0	0	0	1	0	5	331				
EP400	57634	broad.mit.edu	37	12	132466657	132466657	+	Silent	SNP	G	G	A	rs368365311		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132466657G>A	ENST00000333577.4	+	6	1780	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000389561.2_Silent_p.P521P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(1669-1671)ccG>ccA		E1A binding protein p400		G		0,4374		0,0,2187	114.0	130.0	125.0		1563	-3.2	0.7	12		125	1,8527		0,1,4263	no	coding-synonymous	EP400	NM_015409.4		0,1,6450	AA,AG,GG		0.0117,0.0,0.0078		521/3124	132466657	1,12901	2187	4264	6451	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132466657G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.1671G>A	12.37:g.132466657G>A						EP400_ENST00000332482.4_Silent_p.P484P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000330386.6_Silent_p.P521P	p.P557P			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	6	1780	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	557					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.1671G>A																																																																																					0.592	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	1224	0	0	0	1	0	8	1224				
KIAA0020	9933	broad.mit.edu	37	9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:2837296T>C	ENST00000397885.2	-	3	394	c.188A>G	c.(187-189)aAg>aGg	p.K63R		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388																																						ENST00000397885.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21						c.(187-189)aAg>aGg		KIAA0020							259.0	237.0	244.0					9																	2837296		1837	4098	5935	SO:0001583	missense	9933					endoplasmic reticulum|nucleolus	RNA binding	g.chr9:2837296T>C	AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.188A>G	9.37:g.2837296T>C	ENSP00000380982:p.Lys63Arg						p.K63R	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN		GBM - Glioblastoma multiforme(50;0.0319)	3	394	-			63					A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	ENST00000397885.2	37	c.188A>G	CCDS6448.2	.	.	.	.	.	.	.	.	.	.	T	8.779	0.927712	0.18056	.	.	ENSG00000080608	ENST00000397885	T	0.12672	2.66	4.55	3.32	0.38043	.	0.404891	0.24027	N	0.042233	T	0.07369	0.0186	N	0.19112	0.55	0.22629	N	0.998913	B	0.10296	0.003	B	0.08055	0.003	T	0.24799	-1.0150	10	0.26408	T	0.33	-19.7444	5.606	0.17379	0.0:0.0997:0.2858:0.6145	.	63	Q15397	K0020_HUMAN	R	63	ENSP00000380982:K63R	ENSP00000380982:K63R	K	-	2	0	KIAA0020	2827296	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	1.577000	0.36515	2.041000	0.60428	0.528000	0.53228	AAG		0.388	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051529.3	NM_014878		5	851	0	0	0	1	0	5	851				
PTPN21	11099	broad.mit.edu	37	14	88971661	88971661	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:88971661G>A	ENST00000556564.1	-	5	787	c.503C>T	c.(502-504)gCc>gTc	p.A168V	PTPN21_ENST00000328736.3_Missense_Mutation_p.A168V|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	168	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGAAACAAGGCAAATTTCTG	0.328																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(502-504)gCc>gTc		protein tyrosine phosphatase, non-receptor type 21							98.0	106.0	103.0					14																	88971661		2203	4299	6502	SO:0001583	missense	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88971661G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.503C>T	14.37:g.88971661G>A	ENSP00000452414:p.Ala168Val					PTPN21_ENST00000328736.3_Missense_Mutation_p.A168V|RP11-507K2.2_ENST00000555444.1_RNA|PTPN21_ENST00000554628.1_5'UTR	p.A168V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			5	787	-			168			FERM.			Missense_Mutation	SNP	ENST00000556564.1	37	c.503C>T	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	G	7.047	0.563725	0.13498	.	.	ENSG00000070778	ENST00000328736;ENST00000556564;ENST00000555243	T;T;T	0.79033	-1.23;-1.23;-1.23	5.18	5.18	0.71444	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.141914	0.46442	D	0.000287	T	0.51466	0.1676	N	0.01505	-0.83	0.44603	D	0.997578	B;B	0.32302	0.0;0.363	B;B	0.31812	0.001;0.136	T	0.61118	-0.7127	10	0.02654	T	1	.	19.0658	0.93110	0.0:0.0:1.0:0.0	.	168;168	G3V3S6;Q16825	.;PTN21_HUMAN	V	168	ENSP00000330276:A168V;ENSP00000452414:A168V;ENSP00000451401:A168V	ENSP00000330276:A168V	A	-	2	0	PTPN21	88041414	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.027000	0.57239	2.567000	0.86603	0.655000	0.94253	GCC		0.328	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	518	0	0	0	1	0	5	518				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			0							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		11	200	0	0	0	1	0	11	200				
FAM210B	116151	broad.mit.edu	37	20	54945248	54945248	+	IGR	SNP	C	C	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:54945248C>G	ENST00000371384.3	+	0	3046				AURKA_ENST00000312783.6_Missense_Mutation_p.C393S|AURKA_ENST00000395915.3_Missense_Mutation_p.C393S|AURKA_ENST00000347343.2_Missense_Mutation_p.C393S|AURKA_ENST00000395914.1_Missense_Mutation_p.C393S|AURKA_ENST00000395911.1_Missense_Mutation_p.C393S|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000395909.4_Missense_Mutation_p.C393S|AURKA_ENST00000371356.2_Missense_Mutation_p.C393S|AURKA_ENST00000395913.3_Missense_Mutation_p.C393S	NM_080821.2	NP_543011.2	Q96KR6	F210B_HUMAN	family with sequence similarity 210, member B							integral component of membrane (GO:0016021)											TTTGTTTTGGCAATTTGATGG	0.453																																						ENST00000395909.4																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22						c.(1177-1179)tGc>tCc		aurora kinase A							221.0	191.0	201.0					20																	54945248		2203	4300	6503	SO:0001628	intergenic_variant	6790				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	g.chr20:54945248C>G	AL121914	CCDS13450.1	20q13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000124098	ENSG00000124098			16102	protein-coding gene	gene with protein product	"""hypothetical protein LOC116151"""		"""chromosome 20 open reading frame 108"""	C20orf108		11780052	Standard	NM_080821		Approved	dJ1167H4.1, DKFZP434A1114	uc002xxc.3	Q96KR6	OTTHUMG00000032793		20.37:g.54945248C>G						AURKA_ENST00000395915.3_Missense_Mutation_p.C393S|AURKA_ENST00000395913.3_Missense_Mutation_p.C393S|AURKA_ENST00000395914.1_Missense_Mutation_p.C393S|AURKA_ENST00000312783.6_Missense_Mutation_p.C393S|AURKA_ENST00000371356.2_Missense_Mutation_p.C393S|AURKA_ENST00000395907.1_3'UTR|AURKA_ENST00000347343.2_Missense_Mutation_p.C393S|AURKA_ENST00000395911.1_Missense_Mutation_p.C393S	p.C393S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	Colorectal(105;0.202)		11	1743	-			393					B2RBQ9|E1P5Y7|Q8WVN2|Q9BYL6|Q9H418	Missense_Mutation	SNP	ENST00000371384.3	37	c.1178G>C	CCDS13450.1	.	.	.	.	.	.	.	.	.	.	C	0.570	-0.841543	0.02692	.	.	ENSG00000087586	ENST00000395909;ENST00000395914;ENST00000347343;ENST00000395915;ENST00000312783;ENST00000371356;ENST00000395913;ENST00000395911	T;T;T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.25	4.31	0.51392	.	0.369213	0.29417	N	0.012203	T	0.37865	0.1019	N	0.16066	0.365	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.19095	-1.0316	10	0.06494	T	0.89	-7.0082	9.2799	0.37722	0.0:0.6498:0.275:0.0752	.	325;393;393	B4DX16;B2R6Z3;O14965	.;.;AURKA_HUMAN	S	393	ENSP00000379245:C393S;ENSP00000379250:C393S;ENSP00000216911:C393S;ENSP00000379251:C393S;ENSP00000321591:C393S;ENSP00000360407:C393S;ENSP00000379249:C393S;ENSP00000379247:C393S	ENSP00000321591:C393S	C	-	2	0	AURKA	54378655	0.459000	0.25768	0.322000	0.25334	0.737000	0.42083	0.874000	0.28065	1.347000	0.45714	-0.156000	0.13503	TGC		0.453	FAM210B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079800.2	NM_080821		5	590	0	0	0	1	0	5	590				
NEFH	4744	broad.mit.edu	37	22	29885744	29885744	+	Silent	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:29885744T>C	ENST00000310624.6	+	4	2148	c.2115T>C	c.(2113-2115)ccT>ccC	p.P705P		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	711	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAAAGTCCCCTGAGAAGGCCA	0.562																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(2113-2115)ccT>ccC		neurofilament, heavy polypeptide							56.0	60.0	59.0					22																	29885744		2120	4174	6294	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29885744T>C		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2115T>C	22.37:g.29885744T>C							p.P705P	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2148	+			711			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.2115T>C	CCDS13858.1																																																																																				0.562	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		6	635	0	0	0	1	0	6	635				
ARL14EP	120534	broad.mit.edu	37	11	30358275	30358275	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:30358275G>A	ENST00000282032.3	+	4	931	c.716G>A	c.(715-717)cGc>cAc	p.R239H		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	239						cytoplasm (GO:0005737)											CGCTGTGACCGCAAGTGGCTG	0.448																																						ENST00000282032.3																			0											c.(715-717)cGc>cAc		ADP-ribosylation factor-like 14 effector protein							166.0	143.0	151.0					11																	30358275		2202	4299	6501	SO:0001583	missense	120534							g.chr11:30358275G>A	AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.716G>A	11.37:g.30358275G>A	ENSP00000282032:p.Arg239His						p.R239H	NM_152316.1	NP_689529.1					4	931	+								Q5HYH9	Missense_Mutation	SNP	ENST00000282032.3	37	c.716G>A	CCDS7869.1	.	.	.	.	.	.	.	.	.	.	G	35	5.472899	0.96274	.	.	ENSG00000152219	ENST00000282032	T	0.80304	-1.36	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.90480	0.7018	M	0.81112	2.525	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.91211	0.4999	10	0.87932	D	0	-35.8543	19.571	0.95419	0.0:0.0:1.0:0.0	.	239	Q8N8R7	CK046_HUMAN	H	239	ENSP00000282032:R239H	ENSP00000282032:R239H	R	+	2	0	C11orf46	30314851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.807000	0.99171	2.709000	0.92574	0.655000	0.94253	CGC		0.448	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388129.1	NM_152316		6	534	0	0	0	1	0	6	534				
RPRD2	23248	broad.mit.edu	37	1	150444176	150444176	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:150444176G>A	ENST00000369068.4	+	11	2756	c.2752G>A	c.(2752-2754)Gta>Ata	p.V918I	RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Missense_Mutation_p.V892I|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	918	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TGCCTTCAGCGTAAGAGGGAA	0.507																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(2674-2676)Gta>Ata		regulation of nuclear pre-mRNA domain containing 2							196.0	194.0	194.0					1																	150444176		2006	4174	6180	SO:0001583	missense	23248						protein binding	g.chr1:150444176G>A	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2752G>A	1.37:g.150444176G>A	ENSP00000358064:p.Val918Ile					RPRD2_ENST00000369068.4_Missense_Mutation_p.V918I|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.V892I	p.V892I			Q5VT52	RPRD2_HUMAN			10	2739	+			918			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.2674G>A	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	0.022	-1.418245	0.01136	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.41758	1.0;0.99;1.0	5.32	-1.59	0.08453	.	0.409852	0.25717	N	0.028778	T	0.03651	0.0104	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.35251	-0.9796	10	0.02654	T	1	-1.4748	3.2622	0.06853	0.3573:0.3938:0.15:0.0989	.	892;918;892	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	I	892;892;918	ENSP00000383785:V892I;ENSP00000445482:V892I;ENSP00000358064:V918I	ENSP00000358064:V918I	V	+	1	0	RPRD2	148710800	0.010000	0.17322	0.955000	0.39395	0.990000	0.78478	-0.056000	0.11787	-0.118000	0.11851	-0.312000	0.09012	GTA		0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		7	1032	0	0	0	1	0	7	1032				
SASH1	23328	broad.mit.edu	37	6	148792591	148792591	+	Missense_Mutation	SNP	C	C	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:148792591C>A	ENST00000367467.3	+	6	941	c.466C>A	c.(466-468)Cag>Aag	p.Q156K		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	156					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GTATTTCTGGCAGAACTTCCG	0.338																																						ENST00000367467.3																			0				breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(466-468)Cag>Aag		SAM and SH3 domain containing 1																																				SO:0001583	missense	23328						protein binding	g.chr6:148792591C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.466C>A	6.37:g.148792591C>A	ENSP00000356437:p.Gln156Lys						p.Q156K	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	6	941	+		Ovarian(120;0.0169)	156					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.466C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	33	5.251230	0.95305	.	.	ENSG00000111961	ENST00000367467	T	0.12879	2.64	5.92	5.92	0.95590	.	0.107744	0.64402	D	0.000004	T	0.20129	0.0484	L	0.27053	0.805	0.58432	D	0.999997	D	0.69078	0.997	D	0.73380	0.98	T	0.02632	-1.1131	10	0.87932	D	0	-30.963	19.9157	0.97061	0.0:1.0:0.0:0.0	.	156	O94885	SASH1_HUMAN	K	156	ENSP00000356437:Q156K	ENSP00000356437:Q156K	Q	+	1	0	SASH1	148834284	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.315000	0.78998	2.809000	0.96659	0.655000	0.94253	CAG		0.338	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1	NM_015278		5	132	1	0	1.024e-07	1	1.08353e-07	5	132				
L1CAM	3897	broad.mit.edu	37	X	153134383	153134383	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:153134383G>A	ENST00000370060.1	-	12	1481	c.1292C>T	c.(1291-1293)gCg>gTg	p.A431V	L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	431	Ig-like C2-type 5.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGATTGTCCGCAGTCAGGAT	0.617																																						ENST00000370060.1																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81						c.(1291-1293)gCg>gTg		L1 cell adhesion molecule							128.0	97.0	107.0					X																	153134383		2203	4300	6503	SO:0001583	missense	3897				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		g.chrX:153134383G>A	M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1292C>T	X.37:g.153134383G>A	ENSP00000359077:p.Ala431Val					L1CAM_ENST00000543994.1_Missense_Mutation_p.A433V|L1CAM_ENST00000538883.1_Missense_Mutation_p.A433V|L1CAM_ENST00000370055.1_Missense_Mutation_p.A426V|L1CAM_ENST00000370057.3_Missense_Mutation_p.A431V|L1CAM_ENST00000361981.3_Missense_Mutation_p.A426V|L1CAM_ENST00000361699.4_Missense_Mutation_p.A431V	p.A431V	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN			12	1481	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		431			Ig-like C2-type 5.		A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	ENST00000370060.1	37	c.1292C>T	CCDS14733.1	.	.	.	.	.	.	.	.	.	.	G	7.720	0.696948	0.15106	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.60424	0.19;0.2;0.19;0.21;0.23;0.23;0.19	5.53	0.212	0.15240	Immunoglobulin-like (1);	1.465370	0.04158	N	0.322492	T	0.44540	0.1298	L	0.29908	0.895	0.09310	N	1	B;B;B	0.20164	0.034;0.017;0.042	B;B;B	0.16722	0.009;0.006;0.016	T	0.34477	-0.9827	10	0.62326	D	0.03	.	4.1815	0.10378	0.0831:0.2626:0.4422:0.212	.	426;431;431	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	V	431;433;431;433;426;426;431	ENSP00000359077:A431V;ENSP00000438430:A433V;ENSP00000359074:A431V;ENSP00000439645:A433V;ENSP00000354712:A426V;ENSP00000359072:A426V;ENSP00000355380:A431V	ENSP00000355380:A431V	A	-	2	0	L1CAM	152787577	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.054000	0.14205	-0.087000	0.12528	-0.347000	0.07816	GCG		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061094.2	NM_024003		5	474	0	0	0	1	0	5	474				
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Silent_p.P45P|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448																																						ENST00000392222.2																			5	Substitution - coding silent(5)	p.P45P(5)	kidney(2)|endometrium(2)|lung(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(133-135)ccG>ccA		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025366		2203	4300	6503	SO:0001819	synonymous_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025366G>A	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.135G>A	2.37:g.207025366G>A						EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	510	+			45			GST C-terminal.		A8K795|Q6IBH9	Silent	SNP	ENST00000392222.2	37	c.135G>A	CCDS2367.1																																																																																				0.448	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		6	423	0	0	0	1	0	6	423				
HCFC1	3054	broad.mit.edu	37	X	153222965	153222965	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:153222965G>A	ENST00000310441.7	-	13	3119	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	HCFC1_ENST00000354233.3_Missense_Mutation_p.A649V|HCFC1_ENST00000461098.1_5'Flank|HCFC1_ENST00000369984.4_Missense_Mutation_p.A718V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	718	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GATTGTTCCCGCTGGCAGGGG	0.632																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2152-2154)gCg>gTg		host cell factor C1 (VP16-accessory protein)							56.0	57.0	57.0					X																	153222965		2042	4167	6209	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153222965G>A		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2153C>T	X.37:g.153222965G>A	ENSP00000309555:p.Ala718Val					HCFC1_ENST00000369984.4_Missense_Mutation_p.A718V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A649V	p.A718V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			13	3119	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		718			Interaction with SIN3A.		Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.2153C>T	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826205	0.90955	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.03441	3.97;3.94;3.93	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.05868	0.0153	L	0.27053	0.805	0.54753	D	0.999985	D	0.61080	0.989	P	0.47573	0.55	T	0.40572	-0.9556	10	0.59425	D	0.04	.	16.9997	0.86378	0.0:0.0:1.0:0.0	.	718	P51610	HCFC1_HUMAN	V	718;718;649	ENSP00000309555:A718V;ENSP00000359001:A718V;ENSP00000346174:A649V	ENSP00000309555:A718V	A	-	2	0	HCFC1	152876159	1.000000	0.71417	0.913000	0.36048	0.681000	0.39784	9.207000	0.95064	2.277000	0.76020	0.600000	0.82982	GCG		0.632	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		5	346	0	0	0	1	0	5	346				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		27	489	0	0	0	1	0	27	489				
FEN1	2237	broad.mit.edu	37	11	61563230	61563230	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61563230G>A	ENST00000305885.2	+	2	810	c.397G>A	c.(397-399)Gtc>Atc	p.V133I	FADS2_ENST00000574708.1_Intron|TMEM258_ENST00000543510.1_5'Flank	NM_004111.5	NP_004102.1			flap structure-specific endonuclease 1											endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						GCTGGTGAAGGTCACTAAGCA	0.587								Editing and processing nucleases																														ENST00000305885.2																			0				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						c.(397-399)Gtc>Atc	Editing and processing nucleases	flap structure-specific endonuclease 1							51.0	54.0	53.0					11																	61563230		2202	4299	6501	SO:0001583	missense	2237				base-excision repair|DNA replication, removal of RNA primer|double-strand break repair|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|UV protection	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity	g.chr11:61563230G>A	L37374	CCDS8010.1	11q12	2013-05-08			ENSG00000168496	ENSG00000168496			3650	protein-coding gene	gene with protein product	"""maturation factor-1"", ""DNase IV"""	600393		RAD2		7774922	Standard	NM_004111		Approved	FEN-1, MF1	uc001nsg.3	P39748	OTTHUMG00000168162	ENST00000305885.2:c.397G>A	11.37:g.61563230G>A	ENSP00000305480:p.Val133Ile					FADS2_ENST00000574708.1_Intron	p.V133I	NM_004111.5	NP_004102.1	P39748	FEN1_HUMAN			2	810	+			133			I-domain.			Missense_Mutation	SNP	ENST00000305885.2	37	c.397G>A	CCDS8010.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953594	0.34471	.	.	ENSG00000168496	ENST00000305885;ENST00000535723	T;T	0.49139	0.79;0.79	5.44	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.58119	0.2100	M	0.90252	3.1	0.80722	D	1	B	0.23937	0.094	B	0.25140	0.058	T	0.64106	-0.6485	10	0.87932	D	0	-13.6593	14.568	0.68191	0.0703:0.0:0.9297:0.0	.	133	P39748	FEN1_HUMAN	I	133	ENSP00000305480:V133I;ENSP00000445692:V133I	ENSP00000305480:V133I	V	+	1	0	FEN1	61319806	1.000000	0.71417	1.000000	0.80357	0.470000	0.32858	7.250000	0.78287	1.446000	0.47643	-0.258000	0.10820	GTC		0.587	FEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398526.1	NM_004111		6	429	0	0	0	1	0	6	429				
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	RNA	SNP	T	T	G	rs377578228		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:21829555T>G	ENST00000450651.1	-	0	1783							A4QPH2	PI4P2_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2						phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)	p.I530L(4)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607																																						ENST00000450651.1																			4	Substitution - Missense(4)	p.I530L(4)	endometrium(3)|urinary_tract(1)	endometrium(3)|urinary_tract(1)	4															26.0	21.0	23.0					22																	21829555		692	1582	2274			0							g.chr22:21829555T>G			22q11.21	2014-03-20	2007-08-14		ENSG00000183506	ENSG00000183506			33577	pseudogene	pseudogene							Standard	NR_003700		Approved		uc011aie.1	A4QPH2	OTTHUMG00000150827		22.37:g.21829555T>G														0	1783	-								Q6ICJ0|Q6ZT68|Q8WUK7	RNA	SNP	ENST00000450651.1	37																																																																																						0.607	PI4KAP2-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000334908.1			4	44	0	0	0	1	0	4	44				
FAM159A	348378	broad.mit.edu	37	1	53108560	53108560	+	Missense_Mutation	SNP	G	G	A	rs557241775	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:53108560G>A	ENST00000517870.1	+	2	358	c.208G>A	c.(208-210)Gta>Ata	p.V70I	FAM159A_ENST00000401050.3_3'UTR	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	70						integral component of membrane (GO:0016021)				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						AGGCCTGTCCGTAGCAGCAGT	0.522													g|||	2	0.000399361	0.0	0.0	5008	,	,		17083	0.0		0.0	False		,,,				2504	0.002					ENST00000517870.1																			0				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						c.(208-210)Gta>Ata		family with sequence similarity 159, member A							268.0	258.0	261.0					1																	53108560		2085	4199	6284	SO:0001583	missense	348378					integral to membrane		g.chr1:53108560G>A		CCDS41336.1	1p32.3	2008-08-08			ENSG00000182183	ENSG00000182183			28757	protein-coding gene	gene with protein product						12477932	Standard	NM_001042693		Approved	MGC52498	uc001cuf.3	Q6UWV7	OTTHUMG00000008330	ENST00000517870.1:c.208G>A	1.37:g.53108560G>A	ENSP00000429726:p.Val70Ile					FAM159A_ENST00000401050.3_3'UTR	p.V70I	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN			2	358	+			70					Q6ZRG4	Missense_Mutation	SNP	ENST00000517870.1	37	c.208G>A	CCDS41336.1	.	.	.	.	.	.	.	.	.	.	g	0.010	-1.750825	0.00663	.	.	ENSG00000182183	ENST00000517870	.	.	.	4.7	-3.8	0.04307	.	0.710719	0.11665	N	0.541468	T	0.05960	0.0155	N	0.00289	-1.7	0.18873	N	0.999985	B	0.02656	0.0	B	0.04013	0.001	T	0.41502	-0.9505	9	0.02654	T	1	.	12.7823	0.57485	0.6176:0.0:0.3824:0.0	.	70	Q6UWV7	F159A_HUMAN	I	70	.	ENSP00000429726:V70I	V	+	1	0	FAM159A	52881148	0.890000	0.30428	0.951000	0.38953	0.004000	0.04260	0.743000	0.26231	-0.564000	0.06070	-2.008000	0.00441	GTA		0.522	FAM159A-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022934.2	NM_001042693		9	1242	0	0	0	1	0	9	1242				
EDC4	23644	broad.mit.edu	37	16	67913803	67913803	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:67913803C>T	ENST00000358933.5	+	16	2111	c.1872C>T	c.(1870-1872)agC>agT	p.S624S	AC040162.1_ENST00000408599.1_RNA|CTC-479C5.10_ENST00000572067.1_lincRNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	624	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		gcagcagcagcagtagcagca	0.602																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1870-1872)agC>agT		enhancer of mRNA decapping 4							36.0	33.0	34.0					16																	67913803		2193	4282	6475	SO:0001819	synonymous_variant	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913803C>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1872C>T	16.37:g.67913803C>T							p.S624S	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2111	+		Ovarian(137;0.0563)	624			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Silent	SNP	ENST00000358933.5	37	c.1872C>T	CCDS10849.1																																																																																				0.602	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		6	304	0	0	0	1	0	6	304				
RPL6	6128	broad.mit.edu	37	12	112843029	112843029	+	Silent	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:112843029T>C	ENST00000424576.2	-	7	1051	c.866A>G	c.(865-867)tAa>tGa	p.*289*	RPL6_ENST00000202773.9_Silent_p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	0					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						TTAAGACATTTAGAACACCAA	0.333																																						ENST00000424576.2																			0				cervix(1)|large_intestine(6)|lung(3)	10						c.(865-867)tAa>tGa		ribosomal protein L6							23.0	26.0	25.0					12																	112843029		2004	3730	5734	SO:0001819	synonymous_variant	6128				endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome	g.chr12:112843029T>C	X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.866A>G	12.37:g.112843029T>C						RPL6_ENST00000202773.9_Silent_p.*289*	p.*289*	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN			7	1051	-			0					Q2M3Q3|Q8WW97	Silent	SNP	ENST00000424576.2	37	c.866A>G	CCDS9162.1																																																																																				0.333	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405422.1			6	213	0	0	0	1	0	6	213				
C1orf168	199920	broad.mit.edu	37	1	57257973	57257973	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:57257973C>T	ENST00000343433.6	-	2	593	c.513G>A	c.(511-513)ggG>ggA	p.G171G	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	171										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGCCTTTTTGCCCTTCCAGAT	0.498																																						ENST00000343433.6																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						c.(511-513)ggG>ggA		chromosome 1 open reading frame 168							98.0	95.0	96.0					1																	57257973		2203	4300	6503	SO:0001819	synonymous_variant	199920							g.chr1:57257973C>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.513G>A	1.37:g.57257973C>T						C1orf168_ENST00000484327.1_5'UTR	p.G171G	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN			2	593	-			171					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.513G>A	CCDS30729.1																																																																																				0.498	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		6	513	0	0	0	1	0	6	513				
NWD1	284434	broad.mit.edu	37	19	16884050	16884050	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:16884050G>A	ENST00000552788.1	+	9	2524	c.2524G>A	c.(2524-2526)Gca>Aca	p.A842T	NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T|NWD1_ENST00000524140.2_Missense_Mutation_p.A842T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	842							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCAGTTGTGCGCACACCCTGT	0.622																																						ENST00000524140.2																			0				NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2524-2526)Gca>Aca		NACHT and WD repeat domain containing 1							59.0	56.0	57.0					19																	16884050		2203	4299	6502	SO:0001583	missense	284434						ATP binding	g.chr19:16884050G>A	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.2524G>A	19.37:g.16884050G>A	ENSP00000447224:p.Ala842Thr					NWD1_ENST00000552788.1_Missense_Mutation_p.A842T|NWD1_ENST00000549814.1_Missense_Mutation_p.A842T|NWD1_ENST00000523826.1_Missense_Mutation_p.A636T|NWD1_ENST00000379808.3_Missense_Mutation_p.A842T|NWD1_ENST00000339803.6_Missense_Mutation_p.A707T	p.A842T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			11	2942	+			842					C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	37	c.2524G>A		.	.	.	.	.	.	.	.	.	.	-	2.846	-0.239371	0.05944	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.57752	0.38;0.44;0.38;0.38;0.43;0.43	4.04	1.84	0.25277	.	0.486738	0.20217	U	0.096761	T	0.25791	0.0628	N	0.08118	0	0.09310	N	1	B;B;B	0.15719	0.008;0.006;0.014	B;B;B	0.08055	0.002;0.003;0.002	T	0.17992	-1.0351	10	0.15499	T	0.54	-4.5338	6.9503	0.24542	0.1883:0.5547:0.257:0.0	.	842;842;707	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	T	707;842;842;842;636;842;707	ENSP00000428579:A842T;ENSP00000447548:A842T;ENSP00000369136:A842T;ENSP00000428955:A636T;ENSP00000447224:A842T;ENSP00000340159:A707T	ENSP00000340159:A707T	A	+	1	0	NWD1	16745050	0.285000	0.24296	0.001000	0.08648	0.060000	0.15804	0.447000	0.21710	0.129000	0.18514	-2.490000	0.00194	GCA		0.622	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		5	310	0	0	0	1	0	5	310				
WRAP73	49856	broad.mit.edu	37	1	3551634	3551634	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:3551634C>T	ENST00000270708.7	-	8	816	c.743G>A	c.(742-744)cGc>cAc	p.R248H	WRAP73_ENST00000378322.3_Missense_Mutation_p.R248H	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	248						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						ATTAAGGATGCGCACCTGAGG	0.547																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(742-744)cGc>cAc		WD repeat containing, antisense to TP73							157.0	152.0	153.0					1																	3551634		2203	4300	6503	SO:0001583	missense	49856					centrosome	protein binding	g.chr1:3551634C>T	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.743G>A	1.37:g.3551634C>T	ENSP00000270708:p.Arg248His					WRAP73_ENST00000270708.7_Missense_Mutation_p.R248H	p.R248H			Q9P2S5	WRP73_HUMAN			8	801	-			248					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Missense_Mutation	SNP	ENST00000270708.7	37	c.743G>A	CCDS48.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007781	0.93287	.	.	ENSG00000116213	ENST00000270708;ENST00000378322;ENST00000424367	T;T;T	0.67523	-0.27;-0.27;3.36	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	M	0.80508	2.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84871	0.0825	10	0.66056	D	0.02	-50.4148	18.3753	0.90433	0.0:1.0:0.0:0.0	.	248	Q9P2S5	WRP73_HUMAN	H	248;248;203	ENSP00000270708:R248H;ENSP00000367573:R248H;ENSP00000416192:R203H	ENSP00000270708:R248H	R	-	2	0	WRAP73	3541494	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.539000	0.73856	2.652000	0.90054	0.655000	0.94253	CGC		0.547	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			8	695	0	0	0	1	0	8	695				
KRTAP10-9	386676	broad.mit.edu	37	21	46047876	46047876	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:46047876G>A	ENST00000397911.3	+	1	837	c.788G>A	c.(787-789)cGc>cAc	p.R263H	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	263						keratin filament (GO:0045095)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						AGCTATTGCCGCCAGGCCTCC	0.682																																						ENST00000397911.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						c.(787-789)cGc>cAc		keratin associated protein 10-9							63.0	80.0	74.0					21																	46047876		2201	4289	6490	SO:0001583	missense	386676					keratin filament		g.chr21:46047876G>A	AJ566386	CCDS42961.1	21q22.3	2007-10-05			ENSG00000221837	ENSG00000221837		"""Keratin associated proteins"""	22971	protein-coding gene	gene with protein product				KRTAP18-9			Standard	NM_198690		Approved	KAP10.9, KAP18.9	uc002zfp.4	P60411	OTTHUMG00000057637	ENST00000397911.3:c.788G>A	21.37:g.46047876G>A	ENSP00000381009:p.Arg263His					TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_Intron	p.R263H	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN			1	837	+			263					A2RRG1|A6NIR9|Q70LJ1	Missense_Mutation	SNP	ENST00000397911.3	37	c.788G>A	CCDS42961.1	.	.	.	.	.	.	.	.	.	.	g	9.714	1.157860	0.21454	.	.	ENSG00000221837	ENST00000397911	T	0.00745	5.75	3.33	1.19	0.21007	.	.	.	.	.	T	0.02688	0.0081	M	0.66506	2.035	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.44513	-0.9323	8	.	.	.	.	5.8193	0.18518	0.1203:0.3779:0.5018:0.0	.	263	P60411	KR109_HUMAN	H	263	ENSP00000381009:R263H	.	R	+	2	0	KRTAP10-9	44872304	0.005000	0.15991	0.069000	0.20011	0.005000	0.04900	0.556000	0.23438	0.477000	0.27464	0.563000	0.77884	CGC		0.682	KRTAP10-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128040.1			5	699	0	0	0	1	0	5	699				
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L1043R(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGAGTCTTCTTTT	0.592																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.L1043R(1)	lung(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3127-3129)cTc>cGc		trichohyalin							121.0	124.0	123.0					1																	152082565		1956	4131	6087	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082565A>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3128T>G	1.37:g.152082565A>C	ENSP00000357794:p.Leu1043Arg						p.L1043R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3127	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1043			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3128T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298639	0.10622	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	3.32	2.39	0.29439	.	.	.	.	.	T	0.00608	0.0020	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	9	0.14252	T	0.57	.	9.3484	0.38122	0.5564:0.4436:0.0:0.0	.	1043	Q07283	TRHY_HUMAN	R	1043	ENSP00000357794:L1043R	ENSP00000357794:L1043R	L	-	2	0	TCHH	150349189	0.000000	0.05858	0.007000	0.13788	0.087000	0.18053	-5.896000	0.00092	-0.005000	0.14395	-2.437000	0.00212	CTC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	841	0	0	0	1	0	7	841				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72663998	72663998	+	RNA	SNP	T	T	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:72663998T>G	ENST00000425256.1	-	0	902									GTF2I repeat domain containing 2 pseudogene 1																		ATAGCCGGGGTCCTTGAATAC	0.488																																						ENST00000425256.1																			0																																																			0							g.chr7:72663998T>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72663998T>G								NR_002164.1						0	902	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.488	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	222	0	0	0	1	0	4	222				
AHNAK2	113146	broad.mit.edu	37	14	105414639	105414639	+	Silent	SNP	A	A	G	rs369469963	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:105414639A>G	ENST00000333244.5	-	7	7268	c.7149T>C	c.(7147-7149)gaT>gaC	p.D2383D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2383						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGAGTTTCACATCCACTTGGC	0.632													.|||	5	0.000998403	0.0015	0.0014	5008	,	,		17045	0.001		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(7147-7149)gaT>gaC		AHNAK nucleoprotein 2		G		11,3799		0,11,1894	110.0	123.0	119.0		7149	-8.0	0.0	14		119	0,8230		0,0,4115	no	coding-synonymous	AHNAK2	NM_138420.2		0,11,6009	GG,GA,AA		0.0,0.2887,0.0914		2383/5796	105414639	11,12029	1905	4115	6020	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105414639A>G	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.7149T>C	14.37:g.105414639A>G						AHNAK2_ENST00000557457.1_Intron	p.D2383D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	7268	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2383					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.7149T>C	CCDS45177.1																																																																																				0.632	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		8	1172	0	0	0	1	0	8	1172				
KARS	3735	broad.mit.edu	37	16	75665392	75665392	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:75665392G>A	ENST00000302445.3	-	9	1213	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	KARS_ENST00000319410.5_Missense_Mutation_p.R420W|KARS_ENST00000568378.1_Intron	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	392					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TTGATTCGCCGGAAGGGTGGG	0.522																																						ENST00000319410.5																			0				kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18						c.(1258-1260)Cgg>Tgg		lysyl-tRNA synthetase	L-Lysine(DB00123)						116.0	111.0	113.0					16																	75665392		2198	4300	6498	SO:0001583	missense	3735				interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding	g.chr16:75665392G>A	AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1174C>T	16.37:g.75665392G>A	ENSP00000303043:p.Arg392Trp					KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.R392W	p.R420W	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN			10	1379	-			392					A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Missense_Mutation	SNP	ENST00000302445.3	37	c.1258C>T	CCDS10923.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878411	0.51801	.	.	ENSG00000065427	ENST00000319410;ENST00000302445	T;T	0.79940	-1.32;-1.32	5.91	4.94	0.65067	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (D/K/N) (1);	0.046280	0.85682	D	0.000000	D	0.86973	0.6062	H	0.97983	4.12	0.80722	D	1	B;B	0.33103	0.397;0.197	B;B	0.29524	0.103;0.081	D	0.88357	0.2985	10	0.87932	D	0	-9.8305	12.9716	0.58515	0.0:0.0:0.7056:0.2944	.	420;392	Q15046-2;Q15046	.;SYK_HUMAN	W	420;392	ENSP00000325448:R420W;ENSP00000303043:R392W	ENSP00000303043:R392W	R	-	1	2	KARS	74222893	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.716000	0.68437	1.480000	0.48289	-0.181000	0.13052	CGG		0.522	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548		6	496	0	0	0	1	0	6	496				
IFNL3	282617	broad.mit.edu	37	19	39735130	39735130	+	Missense_Mutation	SNP	T	T	A	rs199677823		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39735130T>A	ENST00000413851.2	-	2	223	c.185A>T	c.(184-186)gAg>gTg	p.E62V	IFNL4_ENST00000606380.1_RNA	NM_172139.2	NP_742151.2	Q8IZI9	IFNL3_HUMAN	interferon, lambda 3	62					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|negative regulation of viral genome replication (GO:0045071)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CAGAAGCGACTCTTCCTAGAC	0.617																																						ENST00000413851.2																			0											c.(184-186)gAg>gTg		interferon, lambda 3							24.0	32.0	29.0					19																	39735130		2201	4298	6499	SO:0001583	missense	282617							g.chr19:39735130T>A	AY129149	CCDS12530.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000197110	ENSG00000197110		"""Interferons"""	18365	protein-coding gene	gene with protein product		607402	"""interleukin 28B"", ""interleukin 28B (interferon, lambda 3)"""	IL28B			Standard	NM_172139		Approved	IL-28B, IL28C	uc010xut.2	Q8IZI9	OTTHUMG00000182805	ENST00000413851.2:c.185A>T	19.37:g.39735130T>A	ENSP00000409000:p.Glu62Val						p.E62V	NM_172139.2	NP_742151.2					2	223	-								A2BDE1|Q6VN56|Q7Z4J3|Q8IWL6	Missense_Mutation	SNP	ENST00000413851.2	37	c.185A>T	CCDS12530.1	.	.	.	.	.	.	.	.	.	.	T	15.47	2.841941	0.51057	.	.	ENSG00000197110	ENST00000413851	T	0.37058	1.22	3.01	3.01	0.34805	.	0.775606	0.11634	N	0.544460	T	0.55625	0.1932	M	0.81239	2.535	0.09310	N	1	D	0.59357	0.985	P	0.61201	0.885	T	0.41270	-0.9518	10	0.87932	D	0	-10.0409	7.6568	0.28379	0.0:0.0:0.0:1.0	.	62	Q8IZI9	IL28B_HUMAN	V	62	ENSP00000409000:E62V	ENSP00000409000:E62V	E	-	2	0	IL28B	44426970	0.007000	0.16637	0.052000	0.19188	0.307000	0.27823	1.388000	0.34442	1.388000	0.46506	0.172000	0.16884	GAG		0.617	IFNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463832.1	NM_172139		4	95	0	0	0	1	0	4	95				
OVGP1	5016	broad.mit.edu	37	1	111957318	111957318	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:111957318C>T	ENST00000369732.3	-	11	1860	c.1805G>A	c.(1804-1806)gGc>gAc	p.G602D		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	602					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GGGGTGAGTGCCCACCTCAGA	0.537																																						ENST00000369732.3																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1804-1806)gGc>gAc		oviductal glycoprotein 1, 120kDa							81.0	79.0	80.0					1																	111957318		2203	4300	6503	SO:0001583	missense	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957318C>T	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1805G>A	1.37:g.111957318C>T	ENSP00000358747:p.Gly602Asp						p.G602D	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1860	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	602					A0AV19|B9EGE1|Q15841	Missense_Mutation	SNP	ENST00000369732.3	37	c.1805G>A	CCDS834.1	.	.	.	.	.	.	.	.	.	.	C	7.043	0.562922	0.13498	.	.	ENSG00000085465	ENST00000369732;ENST00000369728;ENST00000434331	T	0.03181	4.02	4.26	-3.69	0.04450	.	26.210200	0.00166	N	0.000000	T	0.00906	0.0030	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48364	-0.9042	10	0.31617	T	0.26	1.382	4.9573	0.14048	0.1688:0.484:0.0:0.3472	.	602;666	Q12889;Q59HH5	OVGP1_HUMAN;.	D	602;666;410	ENSP00000358747:G602D	ENSP00000358743:G666D	G	-	2	0	OVGP1	111758841	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.622000	0.05553	-0.622000	0.05626	0.585000	0.79938	GGC		0.537	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	NM_002557		5	364	0	0	0	1	0	5	364				
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs375625296		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:21731144T>G	ENST00000578713.1	+	1	450	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584755.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR					ubiquitin B pseudogene 4									p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542																																						ENST00000584755.1																			18	Substitution - Missense(18)	p.L149R(18)	endometrium(12)|prostate(6)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(445-447)cTg>cGg																																						SO:0001583	missense	0							g.chr17:21731144T>G	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.446T>G	17.37:g.21731144T>G	ENSP00000464265:p.Leu149Arg					UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000583708.1_3'UTR	p.L149R							2	843	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.446T>G																																																																																					0.542	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			9	398	0	0	0	1	0	9	398				
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	T	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:40367841T>G	ENST00000221347.6	-	29	13126	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4373	TIL 10.					extracellular vesicular exosome (GO:0070062)		p.A4373A(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627																																						ENST00000221347.6																			2	Substitution - coding silent(2)	p.A4373A(2)	lung(1)|kidney(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(13117-13119)gcA>gcC		Fc fragment of IgG binding protein							17.0	32.0	27.0					19																	40367841		2132	4018	6150	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40367841T>G	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13119A>C	19.37:g.40367841T>G							p.A4373A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		29	13126	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		4373			TIL 10.		O95784	Silent	SNP	ENST00000221347.6	37	c.13119A>C	CCDS12546.1																																																																																				0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		34	232	0	0	0	1	0	34	232				
ABHD12B	145447	broad.mit.edu	37	14	51370808	51370808	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:51370808G>A	ENST00000337334.2	+	12	974	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	320							hydrolase activity (GO:0016787)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GAAATTGCACGCAATGCATAC	0.428																																						ENST00000337334.2																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10						c.(958-960)cGc>cAc		abhydrolase domain containing 12B							157.0	151.0	153.0					14																	51370808		2203	4300	6503	SO:0001583	missense	145447						hydrolase activity	g.chr14:51370808G>A	BG698443	CCDS9702.1, CCDS55916.1	14q21.3	2009-10-09	2007-04-03	2007-04-03	ENSG00000131969	ENSG00000131969		"""Abhydrolase domain containing"""	19837	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 29"""	C14orf29			Standard	NM_181814		Approved	BEM46L3	uc001wys.3	Q7Z5M8	OTTHUMG00000140286	ENST00000337334.2:c.959G>A	14.37:g.51370808G>A	ENSP00000336693:p.Arg320His					ABHD12B_ENST00000395752.1_Missense_Mutation_p.R213H|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000353130.1_Missense_Mutation_p.R243H	p.R320H	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN			12	974	+	all_epithelial(31;0.00481)|Breast(41;0.148)		320					Q3KNR9|Q3KNS0|Q7Z5M6|Q7Z5M7|Q8N4D2	Missense_Mutation	SNP	ENST00000337334.2	37	c.959G>A	CCDS55916.1	.	.	.	.	.	.	.	.	.	.	G	0.064	-1.217756	0.01542	.	.	ENSG00000131969	ENST00000353130;ENST00000337334;ENST00000395752	T;T;T	0.23754	1.89;1.89;1.89	4.94	1.25	0.21368	.	0.728272	0.14374	N	0.323573	T	0.15089	0.0364	N	0.25485	0.75	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.10450	0.0;0.005	T	0.32107	-0.9919	10	0.19147	T	0.46	-16.0339	7.6177	0.28167	0.615:0.0:0.385:0.0	.	320;243	Q7Z5M8;Q7Z5M8-2	AB12B_HUMAN;.	H	243;320;213	ENSP00000343951:R243H;ENSP00000336693:R320H;ENSP00000379101:R213H	ENSP00000336693:R320H	R	+	2	0	ABHD12B	50440558	0.000000	0.05858	0.006000	0.13384	0.008000	0.06430	-0.220000	0.09215	0.117000	0.18138	-0.238000	0.12139	CGC		0.428	ABHD12B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411030.1			6	694	0	0	0	1	0	6	694				
TMEM71	137835	broad.mit.edu	37	8	133764201	133764201	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:133764201G>A	ENST00000356838.3	-	4	286	c.144C>T	c.(142-144)tgC>tgT	p.C48C	TMEM71_ENST00000377901.4_Silent_p.C48C|TMEM71_ENST00000523829.1_Silent_p.C48C|TMEM71_ENST00000517538.1_5'UTR	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	48						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CTATGGAGCCGCATTCAAAAG	0.453																																						ENST00000356838.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						c.(142-144)tgC>tgT		transmembrane protein 71							78.0	78.0	78.0					8																	133764201		2203	4300	6503	SO:0001819	synonymous_variant	137835					integral to membrane		g.chr8:133764201G>A	AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.144C>T	8.37:g.133764201G>A						TMEM71_ENST00000523829.1_Silent_p.C48C|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C48C	p.C48C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	BRCA - Breast invasive adenocarcinoma(115;4.46e-05)		4	286	-	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		48					Q3KRC2|Q8WVZ4|Q96LX9	Silent	SNP	ENST00000356838.3	37	c.144C>T	CCDS6366.1																																																																																				0.453	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379591.1	NM_144649		5	306	0	0	0	1	0	5	306				
MLANA	2315	broad.mit.edu	37	9	5897571	5897571	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:5897571G>A	ENST00000381477.3	+	3	252	c.92G>A	c.(91-93)gGc>gAc	p.G31D	KIAA2026_ENST00000443149.2_5'Flank|MLANA_ENST00000381476.1_Missense_Mutation_p.G31D|MLANA_ENST00000490518.1_3'UTR|MLANA_ENST00000381471.1_Missense_Mutation_p.G31D	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN	melan-A	31						endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|melanosome (GO:0042470)|trans-Golgi network (GO:0005802)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)		GCTGGGATCGGCATCCTGACA	0.448																																						ENST00000381477.3																			0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	8						c.(91-93)gGc>gAc		melan-A							161.0	148.0	153.0					9																	5897571		2203	4300	6503	SO:0001583	missense	2315					endoplasmic reticulum membrane|integral to plasma membrane|melanosome|trans-Golgi network	protein binding	g.chr9:5897571G>A		CCDS6466.1	9p24.1	2008-02-05			ENSG00000120215	ENSG00000120215			7124	protein-coding gene	gene with protein product		605513					Standard	NM_005511		Approved	MART1	uc003zjo.1	Q16655	OTTHUMG00000019510	ENST00000381477.3:c.92G>A	9.37:g.5897571G>A	ENSP00000370886:p.Gly31Asp					MLANA_ENST00000381476.1_Missense_Mutation_p.G31D|MLANA_ENST00000381471.1_Missense_Mutation_p.G31D|MLANA_ENST00000490518.1_3'UTR	p.G31D	NM_005511.1	NP_005502.1	Q16655	MAR1_HUMAN		GBM - Glioblastoma multiforme(1;1.15e-06)|Lung(218;0.103)	3	252	+		Acute lymphoblastic leukemia(23;0.158)	31					Q6ICU4	Missense_Mutation	SNP	ENST00000381477.3	37	c.92G>A	CCDS6466.1	.	.	.	.	.	.	.	.	.	.	G	15.26	2.782277	0.49891	.	.	ENSG00000120215	ENST00000381477;ENST00000381476;ENST00000381471	.	.	.	6.03	6.03	0.97812	.	0.187468	0.46442	D	0.000285	T	0.78610	0.4310	M	0.70275	2.135	0.51233	D	0.99991	D	0.89917	1.0	D	0.97110	1.0	T	0.79184	-0.1908	9	0.66056	D	0.02	-13.3243	16.0667	0.80887	0.0:0.0:1.0:0.0	.	31	Q16655	MAR1_HUMAN	D	31	.	ENSP00000370880:G31D	G	+	2	0	MLANA	5887571	1.000000	0.71417	1.000000	0.80357	0.006000	0.05464	4.836000	0.62789	2.854000	0.98071	0.655000	0.94253	GGC		0.448	MLANA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051643.1			5	531	0	0	0	1	0	5	531				
EP400	57634	broad.mit.edu	37	12	132547141	132547141	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000389561.2_Silent_p.Q2743Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2742Q(2)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597																																						ENST00000333577.4																			2	Substitution - coding silent(2)	p.Q2742Q(2)	kidney(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8335-8337)caG>caA		E1A binding protein p400							52.0	42.0	46.0					12																	132547141		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547141G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8337G>A	12.37:g.132547141G>A						EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000389562.2_Silent_p.Q2742Q|EP400_ENST00000330386.6_Silent_p.Q2662Q	p.Q2779Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8446	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2779			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8337G>A																																																																																					0.597	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		8	332	0	0	0	1	0	8	332				
KMT2C	58508	broad.mit.edu	37	7	151921149	151921149	+	Nonsense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:151921149G>A	ENST00000262189.6	-	20	3492	c.3274C>T	c.(3274-3276)Cga>Tga	p.R1092*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.R1092*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1092					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTATAGTTTCGATAGCAGACT	0.388																																						ENST00000355193.2																			0											c.(3274-3276)Cga>Tga		lysine (K)-specific methyltransferase 2C							74.0	66.0	68.0					7																	151921149		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151921149G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3274C>T	7.37:g.151921149G>A	ENSP00000262189:p.Arg1092*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.R1092*	p.R1092*							20	3492	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.3274C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	41	8.824098	0.98968	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.39	5.39	0.77823	.	0.000000	0.41396	D	0.000888	.	.	.	.	.	.	0.46564	D	0.999102	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4512	0.61172	0.075:0.0:0.925:0.0	rs4024370	.	.	.	X	1092	.	ENSP00000262189:R1092X	R	-	1	2	MLL3	151552082	0.985000	0.35326	0.768000	0.31515	0.990000	0.78478	4.399000	0.59703	2.528000	0.85240	0.650000	0.86243	CGA		0.388	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	325	0	0	0	1	0	7	325				
NOX1	27035	broad.mit.edu	37	X	100118222	100118222	+	Missense_Mutation	SNP	C	C	T	rs192653247		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:100118222C>T	ENST00000372966.3	-	4	468	c.263G>A	c.(262-264)cGc>cAc	p.R88H	NOX1_ENST00000372964.1_Missense_Mutation_p.R88H|NOX1_ENST00000217885.5_Missense_Mutation_p.R88H|NOX1_ENST00000372960.4_Missense_Mutation_p.R51H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	88	Ferric oxidoreductase.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)	p.R88H(2)		cervix(1)|lung(3)|ovary(1)|skin(2)	7						TCTCAGTGTGCGGCTGCAAAA	0.433													C|||	3	0.000794702	0.0	0.0	3775	,	,		15206	0.003		0.0	False		,,,				2504	0.0					ENST00000372966.3																			2	Substitution - Missense(2)	p.R88H(2)	lung(2)	cervix(1)|lung(3)|ovary(1)|skin(2)	7						c.(262-264)cGc>cAc		NADPH oxidase 1							217.0	185.0	196.0					X																	100118222		2203	4299	6502	SO:0001583	missense	27035				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity	g.chrX:100118222C>T	AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.263G>A	X.37:g.100118222C>T	ENSP00000362057:p.Arg88His					NOX1_ENST00000372964.1_Missense_Mutation_p.R88H|NOX1_ENST00000372960.4_Missense_Mutation_p.R51H|NOX1_ENST00000217885.5_Missense_Mutation_p.R88H	p.R88H	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN			4	468	-			88			Ferric oxidoreductase.		A8K836|O95691|Q2PP02	Missense_Mutation	SNP	ENST00000372966.3	37	c.263G>A	CCDS14474.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	12.42	1.933162	0.34096	.	.	ENSG00000007952	ENST00000372966;ENST00000372964;ENST00000372961;ENST00000217885;ENST00000372960	D;D;D;D	0.91843	-2.92;-2.92;-2.92;-2.92	4.27	2.49	0.30216	Flavoprotein transmembrane component (1);	0.440664	0.16333	N	0.219037	D	0.88559	0.6469	M	0.69463	2.115	0.18873	N	0.999988	B;B;B	0.29909	0.096;0.261;0.148	B;B;B	0.30179	0.024;0.108;0.112	T	0.74352	-0.3693	10	0.16420	T	0.52	1.9832	8.5839	0.33646	0.0:0.802:0.0:0.198	.	51;88;88	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	H	88;88;88;88;51	ENSP00000362057:R88H;ENSP00000362055:R88H;ENSP00000217885:R88H;ENSP00000362051:R51H	ENSP00000217885:R88H	R	-	2	0	NOX1	100004878	0.002000	0.14202	0.000000	0.03702	0.990000	0.78478	1.752000	0.38349	0.399000	0.25367	0.600000	0.82982	CGC		0.433	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057495.1	NM_007052		5	683	0	0	0	1	0	5	683				
NEB	4703	broad.mit.edu	37	2	152586146	152586146	+	Missense_Mutation	SNP	C	C	G	rs199907781		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:152586146C>G	ENST00000172853.10	-	4	208	c.61G>C	c.(61-63)Gaa>Caa	p.E21Q	NEB_ENST00000397345.3_Missense_Mutation_p.E21Q|NEB_ENST00000427231.2_Missense_Mutation_p.E21Q|NEB_ENST00000603639.1_Missense_Mutation_p.E21Q|NEB_ENST00000604864.1_Missense_Mutation_p.E21Q|NEB_ENST00000409198.1_Missense_Mutation_p.E21Q			P20929	NEBU_HUMAN	nebulin	21					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCACCTCTTCGTAAACCACT	0.498																																						ENST00000427231.2																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(61-63)Gaa>Caa		nebulin							120.0	117.0	118.0					2																	152586146		1986	4158	6144	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152586146C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.61G>C	2.37:g.152586146C>G	ENSP00000172853:p.Glu21Gln					NEB_ENST00000409198.1_Missense_Mutation_p.E21Q|NEB_ENST00000397345.3_Missense_Mutation_p.E21Q|NEB_ENST00000172853.10_Missense_Mutation_p.E21Q|NEB_ENST00000603639.1_Missense_Mutation_p.E21Q|NEB_ENST00000604864.1_Missense_Mutation_p.E21Q	p.E21Q	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	4	263	-			21					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.61G>C		.	.	.	.	.	.	.	.	.	.	C	13.18	2.160849	0.38119	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853;ENST00000439291	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	5.57	4.69	0.59074	.	0.189554	0.36815	N	0.002400	T	0.04907	0.0132	L	0.27053	0.805	0.80722	D	1	P	0.36199	0.543	B	0.28553	0.091	T	0.48210	-0.9055	10	0.18276	T	0.48	.	9.3738	0.38270	0.0:0.9057:0.0:0.0943	.	21	P20929	NEBU_HUMAN	Q	21	ENSP00000386259:E21Q;ENSP00000380505:E21Q;ENSP00000416578:E21Q;ENSP00000172853:E21Q	ENSP00000172853:E21Q	E	-	1	0	NEB	152294392	0.987000	0.35691	0.983000	0.44433	0.522000	0.34438	2.412000	0.44609	2.622000	0.88805	0.655000	0.94253	GAA		0.498	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		5	501	0	0	0	1	0	5	501				
LINGO1	84894	broad.mit.edu	37	15	77907685	77907685	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:77907685G>A	ENST00000355300.6	-	2	738	c.564C>T	c.(562-564)agC>agT	p.S188S	LINGO1_ENST00000561030.1_Silent_p.S182S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	188					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S182S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGTTGAGGCCGCTGAAGGCGC	0.582																																						ENST00000355300.6																			1	Substitution - coding silent(1)	p.S182S(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(562-564)agC>agT		leucine rich repeat and Ig domain containing 1							122.0	129.0	127.0					15																	77907685		2168	4265	6433	SO:0001819	synonymous_variant	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907685G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.564C>T	15.37:g.77907685G>A						LINGO1_ENST00000561030.1_Silent_p.S182S	p.S188S	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	738	-			188					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Silent	SNP	ENST00000355300.6	37	c.564C>T	CCDS45313.1																																																																																				0.582	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		5	617	0	0	0	1	0	5	617				
ZNF343	79175	broad.mit.edu	37	20	2464182	2464182	+	Silent	SNP	A	A	G	rs528685225	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:2464182A>G	ENST00000278772.4	-	6	1912	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S475S(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527													A|||	5	0.000998403	0.003	0.0	5008	,	,		22125	0.0		0.0	False		,,,				2504	0.001					ENST00000278772.4																			2	Substitution - coding silent(2)	p.S475S(2)	lung(1)|kidney(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						c.(1423-1425)agT>agC		zinc finger protein 343							113.0	95.0	101.0					20																	2464182		2203	4300	6503	SO:0001819	synonymous_variant	79175				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:2464182A>G	AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1425T>C	20.37:g.2464182A>G						RP4-734P14.4_ENST00000461548.1_Intron	p.S475S	NM_024325.4	NP_077301.4	Q6P1L6	ZN343_HUMAN			6	1912	-			475					Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	ENST00000278772.4	37	c.1425T>C	CCDS13028.1																																																																																				0.527	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077617.1	NM_024325		5	346	0	0	0	1	0	5	346				
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000454497.2_Silent_p.H897H|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2689-2691)caT>caC		OTU domain containing 4							118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726						protein binding	g.chr4:146059041A>G		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G						OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H	p.H897H	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2828	-	all_hematologic(180;0.151)		961					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37	c.2691T>C																																																																																					0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	733	0	0	0	1	0	6	733				
PRICKLE2	166336	broad.mit.edu	37	3	64133348	64133348	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:64133348C>T	ENST00000295902.6	-	7	1403	c.818G>A	c.(817-819)gGc>gAc	p.G273D	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G329D	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	273	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGTGTTGGCCATCATAGGT	0.522																																						ENST00000295902.6																			0				breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32						c.(817-819)gGc>gAc		prickle homolog 2 (Drosophila)							68.0	69.0	68.0					3																	64133348		2203	4300	6503	SO:0001583	missense	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64133348C>T	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.818G>A	3.37:g.64133348C>T	ENSP00000295902:p.Gly273Asp					PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G329D	p.G273D	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	7	1403	-		Lung NSC(201;0.136)	273			LIM zinc-binding 3.		Q0VF44	Missense_Mutation	SNP	ENST00000295902.6	37	c.818G>A	CCDS2902.1	.	.	.	.	.	.	.	.	.	.	C	16.52	3.147467	0.57151	.	.	ENSG00000163637	ENST00000295902	D	0.87256	-2.23	6.08	6.08	0.98989	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.91523	0.7323	L	0.56396	1.775	0.80722	D	1	P	0.40638	0.725	P	0.54706	0.759	D	0.88672	0.3196	10	0.36615	T	0.2	-50.4567	20.6634	0.99662	0.0:1.0:0.0:0.0	.	273	Q7Z3G6	PRIC2_HUMAN	D	273	ENSP00000295902:G273D	ENSP00000295902:G273D	G	-	2	0	PRICKLE2	64108388	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	7.818000	0.86416	2.894000	0.99253	0.655000	0.94253	GGC		0.522	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		5	487	0	0	0	1	0	5	487				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		8	606	0	0	0	1	0	8	606				
LOC644669	644669	broad.mit.edu	37	18	15323347	15323347	+	RNA	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:15323347T>C	ENST00000455308.2	-	0	501				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						CCAATAAAAGTGGTGTGTGGC	0.303																																						ENST00000455308.2																			0																																																			0							g.chr18:15323347T>C																													18.37:g.15323347T>C								NR_027417.1						0	501	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.303	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			8	42	0	0	0	1	0	8	42				
UIMC1	51720	broad.mit.edu	37	5	176370364	176370364	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:176370364G>A	ENST00000377227.4	-	10	1701	c.1569C>T	c.(1567-1569)taC>taT	p.Y523Y	UIMC1_ENST00000377219.2_Silent_p.Y523Y|UIMC1_ENST00000506128.1_Silent_p.Y357Y|UIMC1_ENST00000511320.1_Silent_p.Y523Y|UIMC1_ENST00000503273.1_5'UTR			Q96RL1	UIMC1_HUMAN	ubiquitin interaction motif containing 1	523	Zinc-finger-like region.				double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|histone H2A K63-linked deubiquitination (GO:0070537)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)			NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCATTGCAGTACATGGCAT	0.433																																						ENST00000377219.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	21						c.(1567-1569)taC>taT		ubiquitin interaction motif containing 1							260.0	246.0	251.0					5																	176370364		2203	4300	6503	SO:0001819	synonymous_variant	51720				double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|negative regulation of transcription, DNA-dependent|positive regulation of DNA repair|response to ionizing radiation|transcription, DNA-dependent	BRCA1-A complex	histone binding|K63-linked polyubiquitin binding	g.chr5:176370364G>A	AF349313	CCDS4408.1	5q35.2	2008-02-05			ENSG00000087206	ENSG00000087206			30298	protein-coding gene	gene with protein product	"""receptor associated protein 80"""	609433				12080054	Standard	NM_001199297		Approved	RAP80	uc021yin.1	Q96RL1	OTTHUMG00000130852	ENST00000377227.4:c.1569C>T	5.37:g.176370364G>A						UIMC1_ENST00000511320.1_Silent_p.Y523Y|UIMC1_ENST00000503273.1_5'UTR|UIMC1_ENST00000377227.4_Silent_p.Y523Y|UIMC1_ENST00000506128.1_Silent_p.Y357Y	p.Y523Y	NM_016290.4	NP_057374.3	Q96RL1	UIMC1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		10	1735	-	all_cancers(89;7.96e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806)	Medulloblastoma(196;0.0145)|all_neural(177;0.0325)	523			Zinc-finger-like region.		A8MSA1|B3KMZ1|B4E3N2|Q5XKQ1|Q7Z3W7|Q8N5B9|Q9BZR1|Q9BZR5|Q9UHX7	Silent	SNP	ENST00000377227.4	37	c.1569C>T	CCDS4408.1																																																																																				0.433	UIMC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253422.1	NM_016290		6	955	0	0	0	1	0	6	955				
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	191						keratin filament (GO:0045095)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627																																						ENST00000345847.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						c.(571-573)atT>atC		keratin associated protein 4-6																																				SO:0001819	synonymous_variant	81871					keratin filament		g.chr17:39296167A>G	AJ406938	CCDS54125.1	17q21.2	2013-06-25			ENSG00000198090	ENSG00000198090		"""Keratin associated proteins"""	18909	protein-coding gene	gene with protein product			"""keratin associated protein 4-15"""	KRTAP4-15			Standard	NM_030976		Approved	KAP4.6, KAP4.15	uc010cxk.2	Q9BYQ5	OTTHUMG00000133634	ENST00000345847.4:c.573T>C	17.37:g.39296167A>G							p.I191I	NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN			1	572	-			187					Q9BYR1	Silent	SNP	ENST00000345847.4	37	c.573T>C	CCDS54125.1																																																																																				0.627	KRTAP4-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257779.1			5	56	0	0	0	1	0	5	56				
PPP1R12B	4660	broad.mit.edu	37	1	202394748	202394748	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:202394748C>T	ENST00000608999.1	+	4	749	c.596C>T	c.(595-597)gCc>gTc	p.A199V	PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V|PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	199					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.A199V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			TTGCAGGATGCCCGCCAGTGG	0.522																																						ENST00000406302.3																			1	Substitution - Missense(1)	p.A199V(1)	kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41						c.(595-597)gCc>gTc		protein phosphatase 1, regulatory subunit 12B							190.0	207.0	201.0					1																	202394748		2203	4300	6503	SO:0001583	missense	4660				regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity	g.chr1:202394748C>T	AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.596C>T	1.37:g.202394748C>T	ENSP00000476755:p.Ala199Val					PPP1R12B_ENST00000336894.4_Missense_Mutation_p.A199V|PPP1R12B_ENST00000480184.1_Missense_Mutation_p.A199V|PPP1R12B_ENST00000356764.2_Missense_Mutation_p.A199V	p.A199V	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.166)		4	749	+			199					A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	ENST00000608999.1	37	c.596C>T	CCDS1426.1	.	.	.	.	.	.	.	.	.	.	C	31	5.069581	0.93950	.	.	ENSG00000077157	ENST00000406302;ENST00000336894;ENST00000480184;ENST00000356764	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.5	5.5	0.81552	Ankyrin repeat-containing domain (3);	0.094539	0.46442	D	0.000281	T	0.68109	0.2965	L	0.58669	1.825	0.80722	D	1	D;D;D;D	0.89917	0.964;0.985;1.0;1.0	P;B;D;D	0.67103	0.478;0.403;0.944;0.949	T	0.61633	-0.7023	10	0.22706	T	0.39	.	19.3998	0.94623	0.0:1.0:0.0:0.0	.	199;199;199;199	O60237-2;O60237;F8W8M3;Q2TAI8	.;MYPT2_HUMAN;.;.	V	199	ENSP00000384496:A199V;ENSP00000337897:A199V;ENSP00000417159:A199V;ENSP00000349206:A199V	ENSP00000337897:A199V	A	+	2	0	PPP1R12B	200661371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.798000	0.85924	2.586000	0.87340	0.460000	0.39030	GCC		0.522	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000099166.3	NM_032105		7	1110	0	0	0	1	0	7	1110				
GPR50	9248	broad.mit.edu	37	X	150348992	150348992	+	Missense_Mutation	SNP	C	C	T	rs376836037		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:150348992C>T	ENST00000218316.3	+	2	1006	c.937C>T	c.(937-939)Cgg>Tgg	p.R313W	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	313					cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCATGCTATGCGGCACCCTAT	0.542																																						ENST00000218316.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(937-939)Cgg>Tgg		G protein-coupled receptor 50		C	TRP/ARG	0,3509		0,0,1469,571	117.0	114.0	115.0		937	2.4	0.8	X		115	1,6530		0,1,2363,1803	no	missense	GPR50	NM_004224.3	101	0,1,3832,2374	TT,TC,CC,C		0.0153,0.0,0.01	benign	313/618	150348992	1,10039	2040	4167	6207	SO:0001583	missense	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150348992C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.937C>T	X.37:g.150348992C>T	ENSP00000218316:p.Arg313Trp						p.R313W	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN			2	1006	+	Acute lymphoblastic leukemia(192;6.56e-05)		313					Q0VGG3|Q3ZAR0	Missense_Mutation	SNP	ENST00000218316.3	37	c.937C>T	CCDS44012.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.663817	0.29515	0.0	1.53E-4	ENSG00000102195	ENST00000218316	T	0.38560	1.13	4.63	2.44	0.29823	.	0.225469	0.43919	D	0.000506	T	0.18635	0.0447	N	0.24115	0.695	0.09310	N	1	P	0.38335	0.627	B	0.23852	0.049	T	0.09862	-1.0655	10	0.31617	T	0.26	-8.6056	5.3646	0.16107	0.3293:0.4826:0.1881:0.0	.	313	Q13585	MTR1L_HUMAN	W	313	ENSP00000218316:R313W	ENSP00000218316:R313W	R	+	1	2	GPR50	150099650	0.998000	0.40836	0.849000	0.33467	0.910000	0.53928	0.376000	0.20535	1.903000	0.55091	0.529000	0.55759	CGG		0.542	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224		8	960	0	0	0	1	0	8	960				
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	A	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:56171880A>C	ENST00000308924.4	+	4	270		c.e4-1		U2AF2_ENST00000450554.2_Splice_Site|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_5'Flank			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637																																						ENST00000450554.2																			2	Unknown(2)	p.?(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.e4-1		U2 small nuclear RNA auxiliary factor 2							28.0	26.0	27.0					19																	56171880		2203	4300	6503	SO:0001630	splice_region_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56171880A>C	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.231-1A>C	19.37:g.56171880A>C						U2AF2_ENST00000308924.4_Splice_Site		NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	4	1189	+		Colorectal(82;0.00244)|Ovarian(87;0.133)						Q96HC5	Splice_Site	SNP	ENST00000308924.4	37		CCDS12933.1	.	.	.	.	.	.	.	.	.	.	-	17.96	3.515229	0.64634	.	.	ENSG00000063244	ENST00000308924;ENST00000450554	.	.	.	3.61	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.1346	0.42699	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	U2AF2	60863692	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	8.427000	0.90275	1.646000	0.50622	0.387000	0.25754	.		0.637	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279	Intron	13	94	0	0	0	1	0	13	94				
SLC35G5	83650	broad.mit.edu	37	8	11189433	11189433	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:11189433C>T	ENST00000382435.4	+	1	1037	c.818C>T	c.(817-819)gCg>gTg	p.A273V		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	273	EamA 2.					integral component of membrane (GO:0016021)											GTGGGCTATGCGGTCACCAAG	0.592																																						ENST00000382435.4																			0											c.(817-819)gCg>gTg		solute carrier family 35, member G5							111.0	110.0	110.0					8																	11189433		2203	4298	6501	SO:0001583	missense	83650					integral to membrane		g.chr8:11189433C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.818C>T	8.37:g.11189433C>T	ENSP00000371872:p.Ala273Val						p.A273V	NM_054028.1	NP_473369.1	Q96KT7	AMCL2_HUMAN			1	1037	+			273			DUF6 2.		A2RRL6	Missense_Mutation	SNP	ENST00000382435.4	37	c.818C>T	CCDS5980.1	.	.	.	.	.	.	.	.	.	.	C	6.022	0.372443	0.11409	.	.	ENSG00000177710	ENST00000382435	T	0.77098	-1.07	.	.	.	.	0.000000	0.44097	D	0.000481	T	0.59088	0.2168	L	0.32530	0.975	0.40203	D	0.977531	B	0.14012	0.009	B	0.14578	0.011	T	0.06625	-1.0816	9	0.54805	T	0.06	-6.6496	4.5334	0.12017	0.0:0.668:0.0:0.332	.	273	Q96KT7	S35G5_HUMAN	V	273	ENSP00000371872:A273V	ENSP00000371872:A273V	A	+	2	0	SLC35G5	11226843	0.924000	0.31332	0.074000	0.20217	0.074000	0.17049	1.709000	0.37909	-1.791000	0.01261	-1.780000	0.00649	GCG		0.592	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		6	799	0	0	0	1	0	6	799				
CELSR2	1952	broad.mit.edu	37	1	109807082	109807082	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:109807082C>T	ENST00000271332.3	+	11	5357	c.5296C>T	c.(5296-5298)Cgg>Tgg	p.R1766W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1766	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CCAGGGTGTGCGGGTGAGCGA	0.652																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(5296-5298)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 2							82.0	73.0	76.0					1																	109807082		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109807082C>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.5296C>T	1.37:g.109807082C>T	ENSP00000271332:p.Arg1766Trp						p.R1766W	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	11	5357	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	1766			Laminin G-like 2.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.5296C>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.228775	0.39399	.	.	ENSG00000143126	ENST00000271332	T	0.81247	-1.47	4.99	1.79	0.24919	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.82710	0.5096	L	0.58428	1.81	0.50313	D	0.99986	D	0.89917	1.0	D	0.87578	0.998	T	0.82575	-0.0389	9	0.42905	T	0.14	.	14.6648	0.68899	0.6517:0.3483:0.0:0.0	.	1766	Q9HCU4	CELR2_HUMAN	W	1766	ENSP00000271332:R1766W	ENSP00000271332:R1766W	R	+	1	2	CELSR2	109608605	0.992000	0.36948	0.998000	0.56505	0.410000	0.31052	0.567000	0.23608	0.623000	0.30267	0.561000	0.74099	CGG		0.652	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		5	317	0	0	0	1	0	5	317				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		6	297	0	0	0	1	0	6	297				
WDR83OS	51398	broad.mit.edu	37	19	12779957	12779957	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:12779957G>A	ENST00000596731.1	-	2	2093	c.141C>T	c.(139-141)tgC>tgT	p.C47C	WDR83_ENST00000242796.4_5'Flank|WDR83OS_ENST00000600694.1_5'Flank|MAN2B1_ENST00000456935.2_5'Flank|WDR83OS_ENST00000222190.5_Silent_p.C47C|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83_ENST00000418543.3_Intron|MAN2B1_ENST00000221363.4_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	47						integral component of membrane (GO:0016021)											GCATGAGGCCGCACATGCTGA	0.612																																						ENST00000596731.1																			0											c.(139-141)tgC>tgT		WD repeat domain 83 opposite strand							79.0	77.0	78.0					19																	12779957		2203	4300	6503	SO:0001819	synonymous_variant	51398					integral to membrane		g.chr19:12779957G>A	AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.141C>T	19.37:g.12779957G>A						WDR83OS_ENST00000222190.5_Silent_p.C47C|CTD-2192J16.24_ENST00000597961.1_Silent_p.C45C|WDR83_ENST00000418543.3_Intron	p.C47C	NM_016145.3	NP_057229.1	Q9Y284	CS056_HUMAN			2	2093	-			47					B2R4T8|Q9BVI3	Silent	SNP	ENST00000596731.1	37	c.141C>T	CCDS12274.1																																																																																				0.612	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462702.1	NM_016145		6	404	0	0	0	1	0	6	404				
GPR42	2866	broad.mit.edu	37	19	35862940	35862940	+	Missense_Mutation	SNP	G	G	T	rs403989	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:35862940G>T	ENST00000454971.1	+	2	880	c.679G>T	c.(679-681)Gtg>Ttg	p.V227L	GPR42_ENST00000597214.1_Missense_Mutation_p.V227L			O15529	GPR42_HUMAN	G protein-coupled receptor 42 (gene/pseudogene)	227			V -> L. {ECO:0000269|PubMed:19630535}.			integral component of plasma membrane (GO:0005887)	signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|skin(2)	4	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GGCGGGGCTGGTGGCGGCCAC	0.637													G|||	1229	0.245407	0.2458	0.2104	5008	,	,		5588	0.3929		0.1928	False		,,,				2504	0.1718					ENST00000454971.1																			0				endometrium(1)|kidney(1)|skin(2)	4						c.(679-681)Gtg>Ttg		G protein-coupled receptor 42 (gene/pseudogene)							15.0	20.0	18.0					19																	35862940		1591	3203	4794	SO:0001583	missense	2866							g.chr19:35862940G>T	AF024689		19q13.12	2012-08-20	2010-02-09	2010-02-09	ENSG00000126251	ENSG00000126251		"""GPCR / Class A : Fatty acid receptors"""	4500	protein-coding gene	gene with protein product		603822	"""G protein-coupled receptor 42 pseudogene"""	GPR42P		9344866, 19630535	Standard	NG_008348		Approved	GPR41L, FFAR3L		O15529	OTTHUMG00000157124	ENST00000454971.1:c.679G>T	19.37:g.35862940G>T	ENSP00000410925:p.Val227Leu					GPR42_ENST00000597214.1_Missense_Mutation_p.V227L	p.V227L					Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	880	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)								Missense_Mutation	SNP	ENST00000454971.1	37	c.679G>T		.	.	.	.	.	.	.	.	.	.	G	5.151	0.213499	0.09757	.	.	ENSG00000126251	ENST00000454971	T	0.30981	1.51	4.42	2.14	0.27477	GPCR, rhodopsin-like superfamily (1);	0.442776	0.23169	N	0.051156	T	0.19725	0.0474	.	.	.	0.80722	P	0.0	B	0.12013	0.005	B	0.12156	0.007	T	0.13548	-1.0505	8	0.36615	T	0.2	-5.1062	8.045	0.30545	0.1006:0.1728:0.7266:0.0	.	227	O15529	GPR42_HUMAN	L	227	ENSP00000410925:V227L	ENSP00000410925:V227L	V	+	1	0	GPR42	40554780	0.228000	0.23718	0.004000	0.12327	0.008000	0.06430	2.621000	0.46418	0.922000	0.37019	0.591000	0.81541	GTG		0.637	GPR42-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000347518.1	NM_005305		5	201	1	0	0.217242	1	0.218442	5	201				
POLR3B	55703	broad.mit.edu	37	12	106820980	106820980	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:106820980A>T	ENST00000228347.4	+	13	1329	c.1107A>T	c.(1105-1107)ttA>ttT	p.L369F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	369					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTAGCTTTTATCTCTTCTTT	0.269																																						ENST00000228347.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.(1105-1107)ttA>ttT		polymerase (RNA) III (DNA directed) polypeptide B							13.0	14.0	14.0					12																	106820980		2198	4295	6493	SO:0001583	missense	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820980A>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1107A>T	12.37:g.106820980A>T	ENSP00000228347:p.Leu369Phe					POLR3B_ENST00000539066.1_Missense_Mutation_p.L311F|POLR3B_ENST00000549195.1_3'UTR	p.L369F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1329	+			369					A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	c.1107A>T	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	A	20.1	3.939401	0.73557	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81499	-0.9;-0.9;-1.5	5.62	1.54	0.23209	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.91354	3.2	0.80722	D	1	P	0.36944	0.574	P	0.52424	0.698	D	0.84399	0.0559	10	0.87932	D	0	-10.3515	3.7246	0.08470	0.4201:0.0:0.3069:0.2729	.	369	Q9NW08	RPC2_HUMAN	F	369;369;311;127;32	ENSP00000228347:L369F;ENSP00000445721:L311F;ENSP00000448398:L127F	ENSP00000228347:L369F	L	+	3	2	POLR3B	105345110	0.998000	0.40836	1.000000	0.80357	0.993000	0.82548	0.461000	0.21940	0.472000	0.27344	0.455000	0.32223	TTA		0.269	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		11	75	0	0	0	1	0	11	75				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000536353.2_Intron|TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	758	0	0	0	1	0	6	758				
FBXW2	26190	broad.mit.edu	37	9	123527025	123527025	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:123527025G>A	ENST00000608872.1	-	8	1364	c.1177C>T	c.(1177-1179)Cgg>Tgg	p.R393W	FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	393					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						CTCTCTGTCCGCAAGTCCATG	0.517																																						ENST00000373926.3																			0				ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						c.(1177-1179)Cgg>Tgg		F-box and WD repeat domain containing 2							107.0	105.0	105.0					9																	123527025		1948	4154	6102	SO:0001583	missense	0				proteolysis		protein binding|ubiquitin-protein ligase activity	g.chr9:123527025G>A	AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.1177C>T	9.37:g.123527025G>A	ENSP00000476369:p.Arg393Trp					FBXW2_ENST00000340778.5_Missense_Mutation_p.R328W|FBXW2_ENST00000493559.1_Intron	p.R393W	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN			8	1364	-			393					B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	ENST00000608872.1	37	c.1177C>T	CCDS43872.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972103	0.34754	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833	T;T	0.19250	2.16;2.16	4.95	0.397	0.16314	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	L	0.47716	1.5	0.58432	D	0.999996	B;D;D	0.89917	0.107;1.0;0.999	B;D;D	0.75020	0.009;0.985;0.985	T	0.09443	-1.0674	10	0.72032	D	0.01	-9.1372	13.1259	0.59354	0.0:0.0:0.4582:0.5418	.	328;393;393	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	W	393;328;393	ENSP00000363036:R393W;ENSP00000341161:R328W	ENSP00000341161:R328W	R	-	1	2	FBXW2	122566846	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.010000	0.40913	0.155000	0.19261	0.563000	0.77884	CGG		0.517	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053834.2			5	514	0	0	0	1	0	5	514				
SUPT6H	6830	broad.mit.edu	37	17	27027990	27027990	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:27027990C>T	ENST00000314616.6	+	36	5121	c.4838C>T	c.(4837-4839)gCc>gTc	p.A1613V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1613V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1613					chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CAGCCAGTGGCCACACCACTA	0.587																																						ENST00000314616.6																			0				NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4837-4839)gCc>gTc		suppressor of Ty 6 homolog (S. cerevisiae)							211.0	212.0	212.0					17																	27027990		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27027990C>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.4838C>T	17.37:g.27027990C>T	ENSP00000319104:p.Ala1613Val					SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1613V	p.A1613V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN			36	5121	+	Lung NSC(42;0.00431)		1613					A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.4838C>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.654734	0.67472	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.45538	0.1347	L	0.44542	1.39	0.80722	D	1	P	0.48764	0.915	B	0.38500	0.275	T	0.40997	-0.9533	9	0.25751	T	0.34	-13.43	18.8074	0.92043	0.0:1.0:0.0:0.0	.	1613	Q7KZ85	SPT6H_HUMAN	V	1613	.	ENSP00000319104:A1613V	A	+	2	0	SUPT6H	24052117	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.973000	0.76116	2.465000	0.83290	0.650000	0.86243	GCC		0.587	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		7	1170	0	0	0	1	0	7	1170				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			6	605	0	0	0	1	0	6	605				
NPHP4	261734	broad.mit.edu	37	1	5923425	5923425	+	Missense_Mutation	SNP	G	G	A	rs537985340	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:5923425G>A	ENST00000378156.4	-	30	4446	c.4181C>T	c.(4180-4182)gCg>gTg	p.A1394V	MIR4689_ENST00000582517.1_RNA|NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	1394					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACTAGGCGCAAACTGCAA	0.542													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19563	0.0		0.0	False		,,,				2504	0.0					ENST00000378156.4																			0				NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47						c.(4180-4182)gCg>gTg		nephronophthisis 4							164.0	177.0	173.0					1																	5923425		2094	4205	6299	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:5923425G>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.4181C>T	1.37:g.5923425G>A	ENSP00000367398:p.Ala1394Val					NPHP4_ENST00000478423.2_5'UTR	p.A1394V	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	30	4446	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	1394					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.4181C>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.278111	0.40294	.	.	ENSG00000131697	ENST00000378156	D	0.88664	-2.41	5.27	-3.02	0.05446	.	0.440966	0.20854	N	0.084470	T	0.75693	0.3884	L	0.49350	1.555	0.09310	N	1	B	0.22276	0.067	B	0.15484	0.013	T	0.63994	-0.6511	10	0.02654	T	1	.	1.8	0.03069	0.265:0.2237:0.3959:0.1155	.	1394	O75161	NPHP4_HUMAN	V	1394	ENSP00000367398:A1394V	ENSP00000367398:A1394V	A	-	2	0	NPHP4	5846012	0.011000	0.17503	0.000000	0.03702	0.001000	0.01503	1.097000	0.30988	-1.060000	0.03189	-0.136000	0.14681	GCG		0.542	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			6	658	0	0	0	1	0	6	658				
BNIPL	149428	broad.mit.edu	37	1	151011320	151011320	+	Missense_Mutation	SNP	G	G	A	rs367607450		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:151011320G>A	ENST00000368931.3	+	4	407	c.251G>A	c.(250-252)cGc>cAc	p.R84H	BNIPL_ENST00000295294.7_Missense_Mutation_p.R2H	NM_138278.3	NP_612122.2	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	84					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|regulation of growth rate (GO:0040009)	cytosol (GO:0005829)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGCCCCATGCGCAAGCGTCTT	0.587																																						ENST00000295294.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10						c.(4-6)cGc>cAc		BCL2/adenovirus E1B 19kD interacting protein like		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	64.0	63.0	63.0		5,251	5.2	1.0	1		63	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	BNIPL	NM_001159642.1,NM_138278.3	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	2/276,84/358	151011320	1,13005	2203	4300	6503	SO:0001583	missense	149428				apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding	g.chr1:151011320G>A	AF193056	CCDS978.2, CCDS53362.1	1q21.2	2008-02-05			ENSG00000163141	ENSG00000163141			16976	protein-coding gene	gene with protein product		611275				12681488, 11741952	Standard	NM_138278		Approved	BNIPl-1, BNIPL-2, PP753	uc001ewl.2	Q7Z465	OTTHUMG00000035157	ENST00000368931.3:c.251G>A	1.37:g.151011320G>A	ENSP00000357927:p.Arg84His					BNIPL_ENST00000368931.3_Missense_Mutation_p.R84H	p.R2H	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)		4	614	+	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		84					Q6DK43|Q8TCY7|Q8WYG2	Missense_Mutation	SNP	ENST00000368931.3	37	c.5G>A	CCDS978.2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374640	0.82573	0.0	1.16E-4	ENSG00000163141	ENST00000368931;ENST00000361277;ENST00000295294;ENST00000392802	T;T;T	0.61742	0.81;0.69;0.08	5.15	5.15	0.70609	.	0.227351	0.39759	N	0.001277	T	0.73481	0.3592	M	0.87900	2.915	0.34662	D	0.72282	D	0.89917	1.0	D	0.73380	0.98	T	0.79332	-0.1847	10	0.87932	D	0	.	14.0116	0.64500	0.0:0.0:1.0:0.0	.	84	Q7Z465	BNIPL_HUMAN	H	84;82;2;2	ENSP00000357927:R84H;ENSP00000355333:R82H;ENSP00000295294:R2H	ENSP00000295294:R2H	R	+	2	0	BNIPL	149277944	0.996000	0.38824	0.991000	0.47740	0.892000	0.51952	2.378000	0.44309	2.677000	0.91161	0.563000	0.77884	CGC		0.587	BNIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085092.1	NM_138279		5	424	0	0	0	1	0	5	424				
ZFHX3	463	broad.mit.edu	37	16	72821615	72821615	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:72821615G>A	ENST00000268489.5	-	10	11232	c.10560C>T	c.(10558-10560)ggC>ggT	p.G3520G	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	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		7	184	0	0	0	1	0	7	184				
FAM43B	163933	broad.mit.edu	37	1	20879636	20879636	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:20879636G>A	ENST00000332947.4	+	1	705	c.170G>A	c.(169-171)cGc>cAc	p.R57H		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	57										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		CGTGTGTTCCGCAGCCGGCGC	0.692																																						ENST00000332947.4																			0				large_intestine(1)|lung(2)	3						c.(169-171)cGc>cAc		family with sequence similarity 43, member B							47.0	47.0	47.0					1																	20879636		2203	4300	6503	SO:0001583	missense	163933							g.chr1:20879636G>A	AK126900	CCDS209.1	1p36.12	2014-08-14			ENSG00000183114	ENSG00000183114			31791	protein-coding gene	gene with protein product						21461611	Standard	NM_207334		Approved	FLJ44952	uc001bdj.3	Q6ZT52	OTTHUMG00000057491	ENST00000332947.4:c.170G>A	1.37:g.20879636G>A	ENSP00000331397:p.Arg57His						p.R57H	NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)	1	705	+		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)	57					A5PKT8|A5PL01	Missense_Mutation	SNP	ENST00000332947.4	37	c.170G>A	CCDS209.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.458134	0.43634	.	.	ENSG00000183114	ENST00000332947	.	.	.	4.17	4.17	0.49024	.	0.144774	0.45606	U	0.000351	T	0.38852	0.1056	N	0.14661	0.345	0.40418	D	0.979817	B	0.27732	0.187	B	0.16722	0.016	T	0.36016	-0.9765	9	0.40728	T	0.16	-15.4057	13.9497	0.64109	0.0:0.0:1.0:0.0	.	57	Q6ZT52	FA43B_HUMAN	H	57	.	ENSP00000331397:R57H	R	+	2	0	FAM43B	20752223	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.070000	0.64376	1.875000	0.54330	0.455000	0.32223	CGC		0.692	FAM43B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127759.1	NM_207334		5	181	0	0	0	1	0	5	181				
PCDHA11	56138	broad.mit.edu	37	5	140250375	140250375	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:140250375G>A	ENST00000398640.2	+	1	1687	c.1687G>A	c.(1687-1689)Gca>Aca	p.A563T	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	563	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACGCGCCGGCACTGCTGGC	0.682																																						ENST00000398640.2																			0				breast(1)|lung(1)	2						c.(1687-1689)Gca>Aca									85.0	95.0	92.0					5																	140250375		2203	4299	6502	SO:0001583	missense	0							g.chr5:140250375G>A	AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1687G>A	5.37:g.140250375G>A	ENSP00000381636:p.Ala563Thr					PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.A563T	NM_018902.3	NP_061725.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1687	+								B2RN58|O75279	Missense_Mutation	SNP	ENST00000398640.2	37	c.1687G>A	CCDS47284.1	.	.	.	.	.	.	.	.	.	.	G	0.492	-0.875088	0.02550	.	.	ENSG00000249158	ENST00000398640	T	0.37235	1.21	5.35	0.2	0.15181	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.14527	0.0351	N	0.05534	-0.03	0.09310	N	1	B;B	0.10296	0.001;0.003	B;B	0.10450	0.003;0.005	T	0.29088	-1.0023	9	0.17369	T	0.5	.	2.9887	0.05977	0.2107:0.1129:0.546:0.1303	.	563;563	Q9Y5I1-2;Q9Y5I1	.;PCDAB_HUMAN	T	563	ENSP00000381636:A563T	ENSP00000381636:A563T	A	+	1	0	PCDHA11	140230559	0.000000	0.05858	0.005000	0.12908	0.061000	0.15899	-2.040000	0.01416	-0.313000	0.08728	-0.347000	0.07816	GCA		0.682	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372885.2	NM_018902		6	909	0	0	0	1	0	6	909				
COL9A1	1297	broad.mit.edu	37	6	71012702	71012702	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:71012702C>T	ENST00000357250.6	-	0	84				COL9A1_ENST00000370496.3_De_novo_Start_InFrame	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGTCCCCTCACGACCCCTTCA	0.522																																						ENST00000357250.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80								collagen, type IX, alpha 1							188.0	174.0	178.0					6																	71012702		692	1591	2283			1297				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	g.chr6:71012702C>T		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988		6.37:g.71012702C>T						COL9A1_ENST00000370496.3_De_novo_Start_InFrame		NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN			0	84	-								Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Translation_Start_Site	SNP	ENST00000357250.6	37		CCDS4971.1																																																																																				0.522	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			7	238	0	0	0	1	0	7	238				
TOMM40L	84134	broad.mit.edu	37	1	161198845	161198845	+	Missense_Mutation	SNP	G	G	A	rs368124911		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:161198845G>A	ENST00000367988.3	+	10	1156	c.887G>A	c.(886-888)cGc>cAc	p.R296H	NR1I3_ENST00000479324.1_5'Flank|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H|TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|MIR5187_ENST00000583479.1_RNA	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	296	Required for mitochondrial targeting. {ECO:0000250}.				ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AATCACTGGCGCAACAGATTC	0.582																																						ENST00000367988.3																			0				large_intestine(2)|liver(4)|lung(4)	10						c.(886-888)cGc>cAc		translocase of outer mitochondrial membrane 40 homolog (yeast)-like		G	HIS/ARG	0,4406		0,0,2203	140.0	122.0	128.0		887	5.2	1.0	1		128	1,8599	1.2+/-3.3	0,1,4299	no	missense	TOMM40L	NM_032174.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	296/309	161198845	1,13005	2203	4300	6503	SO:0001583	missense	84134				protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity	g.chr1:161198845G>A		CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.887G>A	1.37:g.161198845G>A	ENSP00000356967:p.Arg296His					TOMM40L_ENST00000367987.1_Missense_Mutation_p.R296H|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.R262H	p.R296H	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		10	1156	+	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		296			Required for mitochondrial targeting (By similarity).		B7Z4U0|D3DVG9	Missense_Mutation	SNP	ENST00000367988.3	37	c.887G>A	CCDS1227.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.382008	0.61845	0.0	1.16E-4	ENSG00000158882	ENST00000367988;ENST00000545897;ENST00000542686;ENST00000367987	T;T;T	0.42900	0.96;0.96;0.96	5.25	5.25	0.73442	.	0.301075	0.30920	N	0.008603	T	0.24470	0.0593	N	0.14661	0.345	0.32193	N	0.5787640000000001	D;D;D	0.54207	0.965;0.965;0.965	P;B;P	0.52881	0.712;0.285;0.712	T	0.12192	-1.0557	9	0.56958	D	0.05	-18.8218	9.9862	0.41843	0.0898:0.0:0.9102:0.0	.	262;178;296	B7Z4U0;Q9H9G4;Q969M1	.;.;TM40L_HUMAN	H	296;262;198;296	ENSP00000356967:R296H;ENSP00000443233:R262H;ENSP00000356966:R296H	ENSP00000356966:R296H	R	+	2	0	TOMM40L	159465469	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.874000	0.48483	2.885000	0.99019	0.655000	0.94253	CGC		0.582	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083029.1	NM_032174		6	561	0	0	0	1	0	6	561				
MUC16	94025	broad.mit.edu	37	19	9010971	9010971	+	Splice_Site	SNP	T	T	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:9010971T>A	ENST00000397910.4	-	37	39150	c.38947A>T	c.(38947-38949)Act>Tct	p.T12983S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12985					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAATACTCACTGCTGGTGGGG	0.517																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.e37+1		mucin 16, cell surface associated							148.0	130.0	136.0					19																	9010971		1918	4121	6039	SO:0001630	splice_region_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9010971T>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38947+1A>T	19.37:g.9010971T>A							p.T12983_splice	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			37	39150	-			12985					Q6ZQW5|Q96RK2	Splice_Site	SNP	ENST00000397910.4	37	c.38947_splice	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.43	1.346733	0.24426	.	.	ENSG00000181143	ENST00000397910;ENST00000441155	T	0.01871	4.59	1.54	0.0919	0.14470	.	.	.	.	.	T	0.03011	0.0089	M	0.79805	2.47	.	.	.	P	0.35481	0.504	B	0.27380	0.079	T	0.24297	-1.0164	7	.	.	.	.	3.369	0.07213	0.0:0.3569:0.0:0.6431	.	12983	B5ME49	.	S	12983;136	ENSP00000381008:T12983S	.	T	-	1	0	MUC16	8871971	0.025000	0.19082	0.409000	0.26459	0.052000	0.14988	-0.334000	0.07883	-0.017000	0.14103	0.254000	0.18369	ACT		0.517	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	Missense_Mutation	6	631	0	0	0	1	0	6	631				
VSX1	30813	broad.mit.edu	37	20	25056996	25056996	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:25056996C>T	ENST00000376709.4	-	5	1262	c.999G>A	c.(997-999)cgG>cgA	p.R333R	VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	333					neuron maturation (GO:0042551)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(3)|lung(2)	6						TGGTCTCCTGCCGGGCAGAGC	0.592																																						ENST00000376709.4																			0				central_nervous_system(1)|large_intestine(3)|lung(2)	6						c.(997-999)cgG>cgA		visual system homeobox 1							63.0	64.0	63.0					20																	25056996		2203	4300	6503	SO:0001819	synonymous_variant	30813				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr20:25056996C>T	AF176797	CCDS13168.1, CCDS13169.1, CCDS58766.1, CCDS58767.1	20p11.21	2014-02-14	2007-07-12		ENSG00000100987	ENSG00000100987		"""Homeoboxes / PRD class"""	12723	protein-coding gene	gene with protein product		605020	"""posterior polymorphous corneal dystrophy"", ""visual system homeobox 1 homolog, CHX10-like (zebrafish)"""	PPCD		10673340	Standard	NM_001256272		Approved	PPD, PPCD1	uc002wuf.4	Q9NZR4	OTTHUMG00000032111	ENST00000376709.4:c.999G>A	20.37:g.25056996C>T						VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000429762.3_Intron	p.R333R	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN			5	1262	-			333					B9EGJ4|D1MF28|Q0GM60|Q0GM61|Q0GM62|Q0GM63|Q0GM64|Q0GM65|Q5TF40|Q5TF41|Q9HCU3|Q9NU27	Silent	SNP	ENST00000376709.4	37	c.999G>A	CCDS13168.1																																																																																				0.592	VSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078384.3			5	363	0	0	0	1	0	5	363				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		5	320	0	0	0	1	0	5	320				
KRT20	54474	broad.mit.edu	37	17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597																																						ENST00000167588.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14						c.(82-84)Cgc>Tgc		keratin 20							36.0	36.0	36.0					17																	39041356		2203	4300	6503	SO:0001583	missense	54474				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39041356G>A	BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.82C>T	17.37:g.39041356G>A	ENSP00000167588:p.Arg28Cys						p.R28C	NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN			1	123	-		Breast(137;0.000301)|Ovarian(249;0.15)	28			Head.		B2R6W7	Missense_Mutation	SNP	ENST00000167588.3	37	c.82C>T	CCDS11379.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.077922	0.55753	.	.	ENSG00000171431	ENST00000167588	D	0.84070	-1.8	5.17	1.94	0.25998	.	1.630110	0.03448	N	0.210284	T	0.69842	0.3156	N	0.14661	0.345	0.09310	N	0.99999	B	0.10296	0.003	B	0.04013	0.001	T	0.58323	-0.7656	10	0.38643	T	0.18	.	4.8168	0.13371	0.0849:0.1149:0.5878:0.2124	.	28	P35900	K1C20_HUMAN	C	28	ENSP00000167588:R28C	ENSP00000167588:R28C	R	-	1	0	KRT20	36294882	0.999000	0.42202	0.609000	0.28983	0.014000	0.08584	1.653000	0.37323	1.332000	0.45431	0.655000	0.94253	CGC		0.597	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257202.2			6	269	0	0	0	1	0	6	269				
MMAA	166785	broad.mit.edu	37	4	146563588	146563588	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146563588G>A	ENST00000281317.5	+	3	1723	c.513G>A	c.(511-513)ggG>ggA	p.G171G	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	171					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTGAGAGAGGGCACAAATTAT	0.428																																						ENST00000281317.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17						c.(511-513)ggG>ggA		methylmalonic aciduria (cobalamin deficiency) cblA type	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						206.0	206.0	206.0					4																	146563588		2203	4300	6503	SO:0001819	synonymous_variant	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146563588G>A	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.513G>A	4.37:g.146563588G>A						MMAA_ENST00000541599.1_5'UTR|RP11-557J10.4_ENST00000504555.1_RNA	p.G171G	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN			3	1723	+	all_hematologic(180;0.151)		171					B3KX40|Q495G7	Silent	SNP	ENST00000281317.5	37	c.513G>A	CCDS3766.1																																																																																				0.428	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			9	976	0	0	0	1	0	9	976				
PHKA2	5256	broad.mit.edu	37	X	18929061	18929061	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:18929061G>A	ENST00000379942.4	-	20	2820	c.2155C>T	c.(2155-2157)Ccg>Tcg	p.P719S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	719					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					ACTTTAGTCGGCAAAGTCATG	0.363																																						ENST00000379942.4																			0				NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61						c.(2155-2157)Ccg>Tcg		phosphorylase kinase, alpha 2 (liver)							120.0	115.0	117.0					X																	18929061		2203	4300	6503	SO:0001583	missense	5256				glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	g.chrX:18929061G>A		CCDS14190.1	Xp22.2-p22.1	2009-07-10			ENSG00000044446	ENSG00000044446	2.7.11.19		8926	protein-coding gene	gene with protein product		300798		PHK, PYK		2387090	Standard	NM_000292		Approved		uc004cyv.4	P46019	OTTHUMG00000021222	ENST00000379942.4:c.2155C>T	X.37:g.18929061G>A	ENSP00000369274:p.Pro719Ser						p.P719S	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN			20	2820	-	Hepatocellular(33;0.183)		719					A8K1T1|Q6LAJ5|Q7Z6W0|Q96CR3|Q9UDA1	Missense_Mutation	SNP	ENST00000379942.4	37	c.2155C>T	CCDS14190.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922393	0.33908	.	.	ENSG00000044446	ENST00000379942	D	0.90563	-2.69	5.75	5.75	0.90469	Glycoside hydrolase 15-related (1);	0.000000	0.85682	D	0.000000	D	0.90504	0.7025	L	0.60455	1.87	0.58432	D	0.999996	B	0.24576	0.106	B	0.36378	0.223	D	0.86944	0.2081	10	0.26408	T	0.33	-10.3521	17.078	0.86591	0.0:0.0:1.0:0.0	.	719	P46019	KPB2_HUMAN	S	719	ENSP00000369274:P719S	ENSP00000369274:P719S	P	-	1	0	PHKA2	18838982	1.000000	0.71417	0.999000	0.59377	0.465000	0.32709	6.010000	0.70753	2.412000	0.81896	0.600000	0.82982	CCG		0.363	PHKA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055960.1	NM_000292		6	620	0	0	0	1	0	6	620				
WDR60	55112	broad.mit.edu	37	7	158672580	158672580	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:158672580G>A	ENST00000407559.3	+	5	937	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	260					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAAGAAAAGCGACACAAAGAA	0.398																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(778-780)cGa>cAa		WD repeat domain 60							76.0	78.0	77.0					7																	158672580		1867	4093	5960	SO:0001583	missense	55112							g.chr7:158672580G>A		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.779G>A	7.37:g.158672580G>A	ENSP00000384290:p.Arg260Gln						p.R260Q	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	5	937	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	260					Q9NW58	Missense_Mutation	SNP	ENST00000407559.3	37	c.779G>A	CCDS47757.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413667	0.62511	.	.	ENSG00000126870	ENST00000407559	T	0.35973	1.28	4.73	3.83	0.44106	.	0.071972	0.53938	D	0.000043	T	0.18130	0.0435	N	0.20986	0.625	0.09310	N	1	P	0.35155	0.487	B	0.18871	0.023	T	0.12863	-1.0531	10	0.37606	T	0.19	-9.5898	8.1695	0.31247	0.1082:0.0:0.8918:0.0	.	260	Q8WVS4	WDR60_HUMAN	Q	260	ENSP00000384290:R260Q	ENSP00000384290:R260Q	R	+	2	0	WDR60	158365341	0.021000	0.18746	0.008000	0.14137	0.002000	0.02628	2.064000	0.41432	2.339000	0.79563	0.655000	0.94253	CGA		0.398	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		5	225	0	0	0	1	0	5	225				
MAGEC1	9947	broad.mit.edu	37	X	140994960	140994960	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1768-1770)ctG>ctA		melanoma antigen family C, 1							229.0	245.0	240.0					X																	140994960		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994960G>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1770G>A	X.37:g.140994960G>A		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L590L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2056	+	Acute lymphoblastic leukemia(192;6.56e-05)		590					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1770G>A	CCDS35417.1																																																																																				0.567	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	2217	0	0	0	1	0	12	2217				
PRG4	10216	broad.mit.edu	37	1	186276959	186276959	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:186276959A>G	ENST00000445192.2	+	7	2153	c.2108A>G	c.(2107-2109)gAg>gGg	p.E703G	PRG4_ENST00000367485.4_Missense_Mutation_p.E610G|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	703	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCCTAAGGAGACTGCTCCA	0.592																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2107-2109)gAg>gGg		proteoglycan 4							129.0	145.0	139.0					1																	186276959		2203	4300	6503	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276959A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2108A>G	1.37:g.186276959A>G	ENSP00000399679:p.Glu703Gly					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.E662G|PRG4_ENST00000367486.3_Missense_Mutation_p.E660G|PRG4_ENST00000367485.4_Missense_Mutation_p.E610G	p.E703G	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2153	+			703			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.2108A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.907	0.351387	0.11182	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.05649	3.42;3.54;3.41;3.54	2.63	-4.85	0.03142	.	0.358279	0.20051	U	0.100294	T	0.04182	0.0116	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.27732	0.187;0.187;0.118;0.187	B;B;B;B	0.22386	0.039;0.039;0.017;0.039	T	0.36432	-0.9748	9	.	.	.	.	5.8386	0.18621	0.3724:0.4907:0.0:0.1368	.	569;610;703;662	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	G	660;569;662;610;703	ENSP00000356456:E660G;ENSP00000356453:E662G;ENSP00000356455:E610G;ENSP00000399679:E703G	.	E	+	2	0	PRG4	184543582	0.039000	0.19947	0.000000	0.03702	0.047000	0.14425	-0.123000	0.10611	-0.335000	0.08451	0.156000	0.16432	GAG		0.592	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		6	670	0	0	0	1	0	6	670				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000302182.3_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000578649.1_Intron	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		6	423	0	0	0	1	0	6	423				
CRHR1	1394	broad.mit.edu	37	17	43906638	43906638	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43906638A>G	ENST00000398285.3	+	5	385	c.385A>G	c.(385-387)Atc>Gtc	p.I129V	CRHR1_ENST00000339069.5_Missense_Mutation_p.I28V|CRHR1_ENST00000314537.5_Missense_Mutation_p.I129V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I89V|CRHR1_ENST00000577353.1_Missense_Mutation_p.I129V|CRHR1_ENST00000293493.7_5'UTR	NM_001145146.1	NP_001138618.1	P34998	CRFR1_HUMAN	corticotropin releasing hormone receptor 1	129					activation of adenylate cyclase activity (GO:0007190)|adrenal gland development (GO:0030325)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|behavioral response to pain (GO:0048266)|cellular response to corticotropin-releasing hormone stimulus (GO:0071376)|corticotropin secretion (GO:0051458)|epithelial cell differentiation (GO:0030855)|fear response (GO:0042596)|female pregnancy (GO:0007565)|general adaptation syndrome, behavioral process (GO:0051867)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neuron death (GO:1901215)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neuropeptide signaling pathway (GO:0007218)|parturition (GO:0007567)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mast cell degranulation (GO:0043306)|regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010578)|regulation of corticosterone secretion (GO:2000852)|response to hypoxia (GO:0001666)|response to immobilization stress (GO:0035902)|visual learning (GO:0008542)	apical part of cell (GO:0045177)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|vesicle (GO:0031982)	corticotrophin-releasing factor receptor activity (GO:0015056)|corticotropin-releasing hormone binding (GO:0051424)|corticotropin-releasing hormone receptor activity (GO:0043404)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24	Colorectal(2;0.0416)			BRCA - Breast invasive adenocarcinoma(366;0.161)		GGGCCACTGTATCTCCCTGGT	0.577																																					Ovarian(110;57 1568 10207 38216 49865)	ENST00000314537.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1)	24						c.(385-387)Atc>Gtc		corticotropin releasing hormone receptor 1							89.0	96.0	94.0					17																	43906638		2073	4202	6275	SO:0001583	missense	1394				female pregnancy|immune response|parturition	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	g.chr17:43906638A>G	L23332	CCDS42350.1, CCDS45712.1, CCDS45713.1, CCDS45714.1	17q12-q22	2012-08-14			ENSG00000120088	ENSG00000120088		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2357	protein-coding gene	gene with protein product	"""corticotropin-releasing factor receptor"""	122561		CRHR		7590738	Standard	NM_004382		Approved	CRF-R, CRF1	uc010dap.3	P34998		ENST00000398285.3:c.385A>G	17.37:g.43906638A>G	ENSP00000381333:p.Ile129Val					CRHR1_ENST00000293493.7_5'UTR|CRHR1_ENST00000577353.1_Missense_Mutation_p.I129V|CRHR1_ENST00000352855.5_Missense_Mutation_p.I89V|CRHR1_ENST00000339069.5_Missense_Mutation_p.I28V|CRHR1_ENST00000398285.3_Missense_Mutation_p.I129V	p.I129V	NM_001145147.1|NM_001145148.1|NM_004382.4	NP_001138619.1|NP_001138620.1|NP_004373.2	P34998	CRFR1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	610	+	Colorectal(2;0.0416)		129					B4DIE9|Q13008|Q4QRJ1|Q9UK64	Missense_Mutation	SNP	ENST00000398285.3	37	c.385A>G	CCDS45712.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.908988	0.33721	.	.	ENSG00000120088	ENST00000339069;ENST00000398285;ENST00000314537;ENST00000347197;ENST00000352855	T;T;T;T;T	0.68903	1.01;1.16;1.34;-0.36;1.34	5.43	-0.961	0.10337	GPCR, family 2-like (1);	0.232077	0.43747	N	0.000524	T	0.38612	0.1047	N	0.11284	0.12	0.80722	D	1	B;B;B;B;B;B	0.19073	0.001;0.0;0.0;0.033;0.0;0.0	B;B;B;B;B;B	0.18871	0.003;0.001;0.003;0.023;0.002;0.003	T	0.13176	-1.0519	10	0.09843	T	0.71	.	9.8797	0.41225	0.5155:0.0:0.4845:0.0	.	129;129;28;28;89;129	P34998-4;P34998;B3TIK8;B4DMR5;P34998-3;P34998-2	.;CRFR1_HUMAN;.;.;.;.	V	28;129;129;129;89	ENSP00000340522:I28V;ENSP00000381333:I129V;ENSP00000326060:I129V;ENSP00000239167:I129V;ENSP00000344068:I89V	ENSP00000326060:I129V	I	+	1	0	CRHR1	41262419	0.771000	0.28555	0.990000	0.47175	0.979000	0.70002	0.984000	0.29565	-0.209000	0.10156	0.459000	0.35465	ATC		0.577	CRHR1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000441241.3			4	207	0	0	0	1	0	4	207				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	250	0	0	0	1	0	6	250				
KIAA1549	57670	broad.mit.edu	37	7	138524998	138524998	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:138524998C>T	ENST00000422774.1	-	19	5526	c.5478G>A	c.(5476-5478)caG>caA	p.Q1826Q	KIAA1549_ENST00000440172.1_Silent_p.Q1826Q|KIAA1549_ENST00000242365.4_Silent_p.Q1776Q			Q9HCM3	K1549_HUMAN	KIAA1549	1826						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CAATCCCCACCTGTGTCAGGT	0.597			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	ENST00000440172.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(703)	0				large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						c.(5476-5478)caG>caA		KIAA1549							25.0	26.0	26.0					7																	138524998		1997	4169	6166	SO:0001819	synonymous_variant	57670					integral to membrane		g.chr7:138524998C>T		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.5478G>A	7.37:g.138524998C>T						KIAA1549_ENST00000242365.4_Silent_p.Q1776Q|KIAA1549_ENST00000422774.1_Silent_p.Q1826Q	p.Q1826Q	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN			19	5526	-			1826					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Silent	SNP	ENST00000422774.1	37	c.5478G>A	CCDS56513.1																																																																																				0.597	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			4	54	0	0	0	1	0	4	54				
CCDC13	152206	broad.mit.edu	37	3	42784422	42784422	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:42784422C>T	ENST00000310232.6	-	8	1036	c.953G>A	c.(952-954)cGc>cAc	p.R318H	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	318										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TTCCAGGCTGCGGATCCTCAG	0.577																																						ENST00000310232.6																			0				endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						c.(952-954)cGc>cAc		coiled-coil domain containing 13							161.0	150.0	154.0					3																	42784422		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42784422C>T	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.953G>A	3.37:g.42784422C>T	ENSP00000309836:p.Arg318His					CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	p.R318H	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN			8	1036	-			318						Missense_Mutation	SNP	ENST00000310232.6	37	c.953G>A	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.602578	0.46423	.	.	ENSG00000244607	ENST00000310232	T	0.27402	1.67	4.69	2.91	0.33838	.	0.060556	0.64402	D	0.000003	T	0.26846	0.0657	L	0.55481	1.735	0.42623	D	0.993358	B	0.25169	0.119	B	0.23574	0.047	T	0.06092	-1.0846	10	0.44086	T	0.13	.	8.5036	0.33173	0.0:0.745:0.0:0.255	.	318	Q8IYE1	CCD13_HUMAN	H	318	ENSP00000309836:R318H	ENSP00000309836:R318H	R	-	2	0	CCDC13	42759426	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	1.907000	0.39897	0.602000	0.29896	-0.216000	0.12614	CGC		0.577	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		6	884	0	0	0	1	0	6	884				
PRDM5	11107	broad.mit.edu	37	4	121843684	121843684	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:121843684C>T	ENST00000264808.3	-	1	320	c.80G>A	c.(79-81)cGc>cAc	p.R27H	PRDM5_ENST00000515109.1_Missense_Mutation_p.R27H|PRDM5_ENST00000394435.2_Missense_Mutation_p.R27H|PRDM5_ENST00000428209.2_Missense_Mutation_p.R27H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	27	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TCGCACTCTGCGGGCCGTGTA	0.746																																						ENST00000264808.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(79-81)cGc>cAc		PR domain containing 5							19.0	19.0	19.0					4																	121843684		2201	4296	6497	SO:0001583	missense	11107				histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr4:121843684C>T	AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.80G>A	4.37:g.121843684C>T	ENSP00000264808:p.Arg27His					PRDM5_ENST00000428209.2_Missense_Mutation_p.R27H|PRDM5_ENST00000394435.2_Missense_Mutation_p.R27H|PRDM5_ENST00000515109.1_Missense_Mutation_p.R27H	p.R27H	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN			1	320	-			27			SET.		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	c.80G>A	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086245	0.76642	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209;ENST00000394435	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	3.62	1.83	0.25207	SET domain (2);	0.000000	0.85682	U	0.000000	D	0.83101	0.5181	M	0.62266	1.93	0.47341	D	0.999395	B;D;D;B	0.89917	0.004;0.988;1.0;0.002	B;P;D;B	0.83275	0.001;0.656;0.996;0.001	T	0.78710	-0.2098	10	0.39692	T	0.17	-0.2603	8.8766	0.35350	0.0:0.8071:0.0:0.1929	.	27;27;27;27	Q0VAI9;Q9NQX1-3;Q9NQX1-2;Q9NQX1	.;.;.;PRDM5_HUMAN	H	27	ENSP00000264808:R27H;ENSP00000422309:R27H;ENSP00000404832:R27H;ENSP00000377955:R27H	ENSP00000264808:R27H	R	-	2	0	PRDM5	122063134	1.000000	0.71417	0.488000	0.27440	0.780000	0.44128	4.646000	0.61411	0.065000	0.16485	0.298000	0.19748	CGC		0.746	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			4	132	0	0	0	1	0	4	132				
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1				BMS1 pseudogene 20																		ATAAAGTATATGATTTTGTGT	0.348													.|||	2	0.000399361	0.0008	0.0014	5008	,	,		19780	0.0		0.0	False		,,,				2504	0.0					ENST00000426066.1																			0																																																			0							g.chr22:22664056T>C			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664056T>C								NR_027293.1						0	623	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.348	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	177	0	0	0	1	0	5	177				
GGNBP2	79893	broad.mit.edu	37	17	34913131	34913131	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:34913131G>A	ENST00000304718.4	+	4	699	c.383G>A	c.(382-384)tGc>tAc	p.C128Y		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	128					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ACTAGAAGCTGCATGACTGAT	0.403																																						ENST00000304718.4																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(382-384)tGc>tAc		gametogenetin binding protein 2							115.0	106.0	109.0					17																	34913131		2203	4300	6503	SO:0001583	missense	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34913131G>A	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	ENST00000304718.4:c.383G>A	17.37:g.34913131G>A	ENSP00000307617:p.Cys128Tyr						p.C128Y	NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	4	699	+		Breast(25;0.00957)|Ovarian(249;0.17)	128					B2RPK7|Q96T90|Q9GZR8|Q9H767	Missense_Mutation	SNP	ENST00000304718.4	37	c.383G>A	CCDS11314.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509292	0.27036	.	.	ENSG00000005955	ENST00000304718	.	.	.	5.14	5.14	0.70334	.	0.046253	0.85682	D	0.000000	T	0.36276	0.0961	N	0.08118	0	0.80722	D	1	B;B	0.25955	0.138;0.002	B;B	0.18561	0.022;0.001	T	0.21586	-1.0241	9	0.32370	T	0.25	-6.8109	13.9329	0.64007	0.0:0.0:0.8478:0.1522	.	128;128	Q9H3C7;Q9H3C7-3	GGNB2_HUMAN;.	Y	128	.	ENSP00000307617:C128Y	C	+	2	0	GGNBP2	31987244	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.027000	0.76463	2.579000	0.87056	0.585000	0.79938	TGC		0.403	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	NM_024835		5	329	0	0	0	1	0	5	329				
NARFL	64428	broad.mit.edu	37	16	780576	780576	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:780576G>A	ENST00000251588.2	-	11	1288	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000540986.1_Silent_p.Y322Y|NARFL_ENST00000562862.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	424					hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GGACCATGCCGTACAGTCTCT	0.682																																						ENST00000540986.1																			0				autonomic_ganglia(1)|large_intestine(1)|lung(7)	9						c.(964-966)taC>taT		nuclear prelamin A recognition factor-like							48.0	49.0	49.0					16																	780576		2198	4293	6491	SO:0001819	synonymous_variant	64428				iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding	g.chr16:780576G>A	AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.1272C>T	16.37:g.780576G>A						NARFL_ENST00000251588.2_Silent_p.Y424Y|NARFL_ENST00000568545.1_Silent_p.Y322Y|NARFL_ENST00000562862.1_5'UTR	p.Y322Y			Q9H6Q4	NARFL_HUMAN			10	2401	-		Hepatocellular(780;0.0218)	424					A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	Silent	SNP	ENST00000251588.2	37	c.966C>T	CCDS10425.1																																																																																				0.682	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242855.1	NM_022493		5	480	0	0	0	1	0	5	480				
PLXNC1	10154	broad.mit.edu	37	12	94676176	94676176	+	Splice_Site	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:94676176A>G	ENST00000258526.4	+	23	4127	c.3878A>G	c.(3877-3879)gAg>gGg	p.E1293G	PLXNC1_ENST00000545312.1_Splice_Site_p.E32G|PLXNC1_ENST00000547057.1_Splice_Site_p.E340G|RP11-1105G2.3_ENST00000547927.1_Intron|RP11-1105G2.3_ENST00000551941.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1293					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GGCCACTATGAGGTAAGAGCA	0.478																																						ENST00000258526.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.e23+1		plexin C1							111.0	96.0	101.0					12																	94676176		2203	4300	6503	SO:0001630	splice_region_variant	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94676176A>G	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3879+1A>G	12.37:g.94676176A>G						PLXNC1_ENST00000547057.1_Splice_Site_p.E340_splice|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Splice_Site_p.E32_splice	p.E1293_splice	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			23	4127	+			1293					Q59H25	Splice_Site	SNP	ENST00000258526.4	37	c.3879_splice	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.014070	0.54468	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11712	2.75;2.75;2.75	5.92	5.92	0.95590	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.150804	0.64402	D	0.000019	T	0.11367	0.0277	N	0.01352	-0.895	0.38650	D	0.951828	B;D	0.76494	0.117;0.999	B;D	0.69479	0.037;0.964	T	0.56226	-0.8014	10	0.72032	D	0.01	.	14.9345	0.70944	1.0:0.0:0.0:0.0	.	340;1293	B4DHQ7;O60486	.;PLXC1_HUMAN	G	1293;340;32	ENSP00000258526:E1293G;ENSP00000446720:E340G;ENSP00000439225:E32G	ENSP00000258526:E1293G	E	+	2	0	PLXNC1	93200307	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.329000	0.59260	2.270000	0.75569	0.459000	0.35465	GAG		0.478	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		Missense_Mutation	4	257	0	0	0	1	0	4	257				
UGT2B28	54490	broad.mit.edu	37	4	70152481	70152481	+	Silent	SNP	A	A	G	rs141618560	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:70152481A>G	ENST00000335568.5	+	3	884	c.882A>G	c.(880-882)gaA>gaG	p.E294E	UGT2B28_ENST00000511240.1_Silent_p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	294					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.E294E(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						AAATGGAGGAATTTGTACAGA	0.393													a|||	49	0.00978435	0.0159	0.0043	5008	,	,		10804	0.004		0.005	False		,,,				2504	0.0164					ENST00000335568.5																			1	Substitution - coding silent(1)	p.E294E(1)	kidney(1)	central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(880-882)gaA>gaG		UDP glucuronosyltransferase 2 family, polypeptide B28	Flunitrazepam(DB01544)	G	,	12,4124		0,12,2056	125.0	143.0	138.0		882,882	-1.6	0.9	4	dbSNP_134	138	9,8499		0,9,4245	no	coding-synonymous,coding-synonymous	UGT2B28	NM_001207004.1,NM_053039.1	,	0,21,6301	GG,GA,AA		0.1058,0.2901,0.1661	,	294/336,294/530	70152481	21,12623	2068	4254	6322	SO:0001819	synonymous_variant	54490				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70152481A>G	AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.882A>G	4.37:g.70152481A>G						UGT2B28_ENST00000511240.1_Silent_p.E294E	p.E294E	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN			3	884	+			294					B5BUM0|Q9BY62|Q9BY63	Silent	SNP	ENST00000335568.5	37	c.882A>G	CCDS3528.1																																																																																				0.393	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251557.2	NM_053039		5	710	0	0	0	1	0	5	710				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000541777.2_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		6	563	0	0	0	1	0	6	563				
TXNDC2	84203	broad.mit.edu	37	18	9887625	9887625	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:9887625G>A	ENST00000306084.6	+	2	1348	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.5_Silent_p.Q316Q	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	383	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						AAGCCATCCAGCCCAAGGAGG	0.557																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(1147-1149)caG>caA		thioredoxin domain containing 2 (spermatozoa)							133.0	122.0	126.0					18																	9887625		2203	4300	6503	SO:0001819	synonymous_variant	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887625G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.1149G>A	18.37:g.9887625G>A						TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000357775.4_Silent_p.Q316Q	p.Q383Q	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	1348	+			383			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	ENST00000306084.6	37	c.1149G>A	CCDS42414.1																																																																																				0.557	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			6	578	0	0	0	1	0	6	578				
UNC5B	219699	broad.mit.edu	37	10	73050693	73050693	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:73050693C>T	ENST00000335350.6	+	9	1537	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	374					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)		p.A374V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						TCAGGGGATGCGGCGCTGTAT	0.667																																						ENST00000335350.6																			1	Substitution - Missense(1)	p.A374V(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						c.(1120-1122)gCg>gTg		unc-5 homolog B (C. elegans)							126.0	131.0	129.0					10																	73050693		2203	4300	6503	SO:0001583	missense	219699				apoptosis|axon guidance|regulation of apoptosis	integral to membrane		g.chr10:73050693C>T	AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.1121C>T	10.37:g.73050693C>T	ENSP00000334329:p.Ala374Val					UNC5B_ENST00000373192.4_Missense_Mutation_p.A363V	p.A374V	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN			9	1537	+			374					Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Missense_Mutation	SNP	ENST00000335350.6	37	c.1121C>T	CCDS7309.1	.	.	.	.	.	.	.	.	.	.	C	1.247	-0.619747	0.03636	.	.	ENSG00000107731	ENST00000335350;ENST00000373192	T;T	0.38077	1.18;1.16	5.26	4.13	0.48395	.	0.192141	0.45126	N	0.000398	T	0.06096	0.0158	N	0.00044	-2.455	0.23754	N	0.996936	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.36065	-0.9763	10	0.02654	T	1	-9.8173	10.3055	0.43678	0.0:0.0795:0.0:0.9205	.	363;374	Q8IZJ1-2;Q8IZJ1	.;UNC5B_HUMAN	V	374;363	ENSP00000334329:A374V;ENSP00000362288:A363V	ENSP00000334329:A374V	A	+	2	0	UNC5B	72720699	1.000000	0.71417	0.959000	0.39883	0.190000	0.23558	5.063000	0.64332	0.856000	0.35383	-0.471000	0.05019	GCG		0.667	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048541.1	NM_170744		7	1109	0	0	0	1	0	7	1109				
FRG1B	284802	broad.mit.edu	37	20	29625885	29625885	+	Missense_Mutation	SNP	A	A	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:29625885A>T	ENST00000278882.3	+	5	509	c.129A>T	c.(127-129)aaA>aaT	p.K43N	FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N|FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	43								p.K43N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCGCCCTGAAATCTGGCTATG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.K43N(2)	prostate(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(127-129)aaA>aaT																																						SO:0001583	missense	0							g.chr20:29625885A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.129A>T	20.37:g.29625885A>T	ENSP00000278882:p.Lys43Asn					FRG1B_ENST00000358464.4_Missense_Mutation_p.K43N|FRG1B_ENST00000439954.2_Missense_Mutation_p.K48N	p.K43N							5	509	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.129A>T		.	.	.	.	.	.	.	.	.	.	a	10.23	1.292024	0.23564	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62364	0.03	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.74145	0.3678	.	.	.	0.48762	D	0.999701	D	0.71674	0.998	D	0.79784	0.993	T	0.74598	-0.3612	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	48	F5H5R5	.	N	43;48;43	ENSP00000408863:K48N	ENSP00000278882:K43N	K	+	3	2	FRG1B	28239546	1.000000	0.71417	1.000000	0.80357	0.064000	0.16182	0.595000	0.24029	1.028000	0.39785	0.155000	0.16302	AAA		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	524	0	0	0	1	0	7	524				
NACA	4666	broad.mit.edu	37	12	57111705	57111705	+	Silent	SNP	G	G	A	rs2926746		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1203	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(3607-3609)ccC>ccT		nascent polypeptide-associated complex alpha subunit							64.0	76.0	73.0					12																	57111705		1233	2868	4101	SO:0001819	synonymous_variant	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57111705G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.3609C>T	12.37:g.57111705G>A						NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	p.P1203P	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	3890	-			0						Silent	SNP	ENST00000454682.1	37	c.3609C>T																																																																																					0.642	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		8	966	0	0	0	1	0	8	966				
RTN2	6253	broad.mit.edu	37	19	45996481	45996481	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:45996481C>T	ENST00000245923.4	-	5	1205	c.970G>A	c.(970-972)Gca>Aca	p.A324T	RTN2_ENST00000590526.1_Missense_Mutation_p.A50T|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	324					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGGGATTTTGCCCACTTCAGT	0.617																																						ENST00000590526.1																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20						c.(148-150)Gca>Aca		reticulon 2							74.0	83.0	80.0					19																	45996481		2203	4300	6503	SO:0001583	missense	6253					integral to endoplasmic reticulum membrane	signal transducer activity	g.chr19:45996481C>T	AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.970G>A	19.37:g.45996481C>T	ENSP00000245923:p.Ala324Thr					RTN2_ENST00000344680.4_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000245923.4_Missense_Mutation_p.A324T|PPM1N_ENST00000401705.1_Intron	p.A50T			O75298	RTN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)	5	1274	-		Ovarian(192;0.051)|all_neural(266;0.112)	324					O60509|Q7RTM6|Q7RTN1|Q7RTN2	Missense_Mutation	SNP	ENST00000245923.4	37	c.148G>A	CCDS12665.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.690175	0.68271	.	.	ENSG00000125744	ENST00000245923	T	0.45276	0.9	4.42	2.25	0.28309	.	0.801566	0.10171	U	0.707138	T	0.21801	0.0525	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.07309	-1.0779	10	0.42905	T	0.14	-0.6328	6.0569	0.19816	0.0:0.7069:0.1911:0.1019	.	324	O75298	RTN2_HUMAN	T	324	ENSP00000245923:A324T	ENSP00000245923:A324T	A	-	1	0	RTN2	50688321	0.985000	0.35326	0.986000	0.45419	0.932000	0.56968	1.609000	0.36858	0.779000	0.33543	0.467000	0.42956	GCA		0.617	RTN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000459574.1	NM_005619		8	977	0	0	0	1	0	8	977				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:11058168A>T	ENST00000470054.1	-	0	479							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							100.0	79.0	86.0					21																	11058168		692	1591	2283			85319							g.chr21:11058168A>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11058168A>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	479	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.388	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		9	526	0	0	0	1	0	9	526				
PCNT	5116	broad.mit.edu	37	21	47754463	47754463	+	Silent	SNP	A	A	G	rs527413251		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:47754463A>G	ENST00000359568.5	+	3	527	c.420A>G	c.(418-420)ccA>ccG	p.P140P	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	140					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)		p.P140P(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACCACCCACCAGAACAGCGTG	0.542													a|||	1	0.000199681	0.0	0.0	5008	,	,		19704	0.0		0.0	False		,,,				2504	0.001					ENST00000359568.5																			1	Substitution - coding silent(1)	p.P140P(1)	lung(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(418-420)ccA>ccG		pericentrin							180.0	120.0	140.0					21																	47754463		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47754463A>G	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.420A>G	21.37:g.47754463A>G						PCNT_ENST00000480896.1_3'UTR	p.P140P	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN			3	527	+	Breast(49;0.112)		140					O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.420A>G	CCDS33592.1																																																																																				0.542	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031		5	291	0	0	0	1	0	5	291				
LTBP4	8425	broad.mit.edu	37	19	41133748	41133748	+	Missense_Mutation	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:41133748G>A	ENST00000308370.7	+	33	4703	c.4703G>A	c.(4702-4704)cGc>cAc	p.R1568H	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1531H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1501H|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1569	EGF-like 15. {ECO:0000255|PROSITE- ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GACATGACCCGCATGGCCTGC	0.701																																						ENST00000308370.7																			0				central_nervous_system(1)	1						c.(4702-4704)cGc>cAc		latent transforming growth factor beta binding protein 4																																				SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41133748G>A	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4703G>A	19.37:g.41133748G>A	ENSP00000311905:p.Arg1568His					LTBP4_ENST00000204005.9_Missense_Mutation_p.R1531H|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000396819.3_Missense_Mutation_p.R1501H|LTBP4_ENST00000602240.1_3'UTR	p.R1568H	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		33	4703	+			1569			EGF-like 15.		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4703G>A		.	.	.	.	.	.	.	.	.	.	G	9.677	1.148356	0.21288	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D	0.87571	-2.27;-2.27;-2.27	4.33	3.29	0.37713	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	0.423019	0.17518	N	0.171353	T	0.79482	0.4453	.	.	.	0.35395	D	0.791061	D;P;P;D;D;P	0.57257	0.979;0.948;0.824;0.968;0.968;0.824	B;B;B;P;B;B	0.45276	0.437;0.437;0.201;0.475;0.354;0.201	T	0.77381	-0.2609	9	0.18276	T	0.48	.	6.5317	0.22330	0.0954:0.0:0.7251:0.1795	.	329;581;789;1501;1569;1531	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	H	1531;1568;1501;329	ENSP00000204005:R1531H;ENSP00000311905:R1568H;ENSP00000380031:R1501H	ENSP00000204005:R1531H	R	+	2	0	LTBP4	45825588	0.001000	0.12720	1.000000	0.80357	0.992000	0.81027	0.195000	0.17155	1.149000	0.42402	0.655000	0.94253	CGC		0.701	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573		3	42	0	0	0	1	0	3	42				
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A	rs558808115		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:146059006G>A	ENST00000447906.2	-	21	3108	c.2921C>T	c.(2920-2922)aCt>aTt	p.T974I	OTUD4_ENST00000454497.2_Missense_Mutation_p.T909I|OTUD4_ENST00000455611.2_Intron			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	974					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463																																						ENST00000454497.2																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(2725-2727)aCt>aTt		OTU domain containing 4							128.0	133.0	131.0					4																	146059006		2203	4300	6503	SO:0001583	missense	54726						protein binding	g.chr4:146059006G>A		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2921C>T	4.37:g.146059006G>A	ENSP00000395487:p.Thr974Ile					OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	p.T909I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN			21	2863	-	all_hematologic(180;0.151)		973					B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Missense_Mutation	SNP	ENST00000447906.2	37	c.2726C>T		.	.	.	.	.	.	.	.	.	.	G	13.28	2.191504	0.38707	.	.	ENSG00000164164	ENST00000454497;ENST00000447906	T;T	0.34275	1.37;1.37	6.17	5.33	0.75918	.	1.059000	0.07258	N	0.867023	T	0.32793	0.0841	N	0.24115	0.695	0.80722	D	1	B;B	0.13145	0.007;0.004	B;B	0.14023	0.01;0.004	T	0.02275	-1.1184	10	0.59425	D	0.04	-0.3286	15.5098	0.75772	0.0658:0.0:0.9342:0.0	.	974;973	G3V0I6;Q01804	.;OTUD4_HUMAN	I	909;974	ENSP00000409279:T909I;ENSP00000395487:T974I	ENSP00000395487:T974I	T	-	2	0	OTUD4	146278456	0.027000	0.19231	0.108000	0.21378	0.880000	0.50808	2.210000	0.42816	1.621000	0.50320	0.655000	0.94253	ACT		0.463	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365117.2	NM_017493		6	790	0	0	0	1	0	6	790				
CHEK2P2	646096	broad.mit.edu	37	15	20489434	20489434	+	RNA	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:20489434C>T	ENST00000555186.1	+	0	422					NR_038836.1				checkpoint kinase 2 pseudogene 2																		CACTGAAGGACCAGATCACCA	0.413																																						ENST00000555186.1																			0																																																			0							g.chr15:20489434C>T			15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20489434C>T								NR_038836.1						0	422	+									RNA	SNP	ENST00000555186.1	37																																																																																						0.413	CHEK2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000414654.1	NR_038836		6	488	0	0	0	1	0	6	488				
LAMB3	3914	broad.mit.edu	37	1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A	rs368115484		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:209790792G>A	ENST00000356082.4	-	21	3325	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V|LAMB3_ENST00000391911.1_Missense_Mutation_p.A1064V	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1064	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0					ENST00000391911.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	GRCh37	CP025158	LAMB3	X		c.(3190-3192)gCg>gTg		laminin, beta 3		G	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	75.0	73.0	74.0		3191,3191,3191	5.8	0.4	1		74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	LAMB3	NM_000228.2,NM_001017402.1,NM_001127641.1	64,64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	1064/1173,1064/1173,1064/1173	209790792	1,13005	2203	4300	6503	SO:0001583	missense	3914				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity	g.chr1:209790792G>A	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3191C>T	1.37:g.209790792G>A	ENSP00000348384:p.Ala1064Val					LAMB3_ENST00000356082.4_Missense_Mutation_p.A1064V|LAMB3_ENST00000367030.3_Missense_Mutation_p.A1064V	p.A1064V	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0519)	20	3580	-			1064			Domain I.		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	ENST00000356082.4	37	c.3191C>T	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652405	0.67472	0.0	1.16E-4	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.78003	1.89;1.89;1.89;-1.14	5.77	5.77	0.91146	.	0.109031	0.64402	D	0.000010	T	0.70527	0.3234	L	0.34521	1.04	0.44323	D	0.997209	P	0.51351	0.944	B	0.41917	0.37	T	0.75639	-0.3248	10	0.87932	D	0	.	15.5396	0.76031	0.0:0.0:1.0:0.0	.	1064	Q13751	LAMB3_HUMAN	V	1064;1064;1064;133	ENSP00000375778:A1064V;ENSP00000348384:A1064V;ENSP00000355997:A1064V;ENSP00000398683:A133V	ENSP00000348384:A1064V	A	-	2	0	LAMB3	207857415	0.980000	0.34600	0.383000	0.26132	0.309000	0.27889	5.823000	0.69272	2.743000	0.94032	0.456000	0.33151	GCG		0.627	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228		5	511	0	0	0	1	0	5	511				
PFKFB1	5207	broad.mit.edu	37	X	54978521	54978521	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:54978521G>A	ENST00000375006.3	-	8	733	c.663C>T	c.(661-663)ttC>ttT	p.F221F	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	221	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGCCCACGTCGAAGATCTTGA	0.567																																						ENST00000375006.3																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(661-663)ttC>ttT		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1							125.0	83.0	97.0					X																	54978521		2203	4300	6503	SO:0001819	synonymous_variant	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54978521G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.663C>T	X.37:g.54978521G>A						PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.F156F	p.F221F	NM_002625.2	NP_002616.2	P16118	F261_HUMAN			8	733	-			221			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	ENST00000375006.3	37	c.663C>T	CCDS14364.1																																																																																				0.567	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1			4	205	0	0	0	1	0	4	205				
MAGEC1	9947	broad.mit.edu	37	X	140995016	140995016	+	Missense_Mutation	SNP	T	T	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:140995016T>A	ENST00000285879.4	+	4	2112	c.1826T>A	c.(1825-1827)cTc>cAc	p.L609H	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	609										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCTCCTCTCTACTTTCCT	0.572										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1825-1827)cTc>cAc		melanoma antigen family C, 1							193.0	205.0	201.0					X																	140995016		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140995016T>A	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1826T>A	X.37:g.140995016T>A	ENSP00000285879:p.Leu609His	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.L609H	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	2112	+	Acute lymphoblastic leukemia(192;6.56e-05)		609					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1826T>A	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.021	-1.420247	0.01136	.	.	ENSG00000155495	ENST00000285879	T	0.02280	4.36	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.18873	N	0.999981	B	0.13594	0.008	B	0.12156	0.007	T	0.44651	-0.9314	9	0.41790	T	0.15	.	3.46	0.07529	0.6118:0.1904:0.0:0.1978	.	609	O60732	MAGC1_HUMAN	H	609	ENSP00000285879:L609H	ENSP00000285879:L609H	L	+	2	0	MAGEC1	140822682	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.882000	0.00714	-3.326000	0.00186	-3.493000	0.00034	CTC		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		12	1803	0	0	0	1	0	12	1803				
RYR1	6261	broad.mit.edu	37	19	39009888	39009888	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:39009888G>A	ENST00000359596.3	+	67	10053	c.10053G>A	c.(10051-10053)ccG>ccA	p.P3351P	RYR1_ENST00000360985.3_Silent_p.P3351P|RYR1_ENST00000355481.4_Silent_p.P3351P			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3351					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|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)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTGCACGGCCGGAGCTCCTGC	0.662																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(10051-10053)ccG>ccA		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						59.0	60.0	60.0					19																	39009888		2203	4300	6503	SO:0001819	synonymous_variant	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:39009888G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.10053G>A	19.37:g.39009888G>A						RYR1_ENST00000359596.3_Silent_p.P3351P|RYR1_ENST00000360985.3_Silent_p.P3351P	p.P3351P	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		67	10184	+	all_cancers(60;7.91e-06)		3351					Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	ENST00000359596.3	37	c.10053G>A	CCDS33011.1																																																																																				0.662	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			5	523	0	0	0	1	0	5	523				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		20	187	0	0	0	1	0	20	187				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		9	1535	0	0	0	1	0	9	1535				
ZNF611	81856	broad.mit.edu	37	19	53208665	53208665	+	Missense_Mutation	SNP	G	G	A	rs546962295		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:53208665G>A	ENST00000319783.1	-	7	1959	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000543227.1_Missense_Mutation_p.A548V|ZNF611_ENST00000602162.1_Missense_Mutation_p.A479V|ZNF611_ENST00000595798.1_Missense_Mutation_p.A479V|ZNF611_ENST00000540744.1_Missense_Mutation_p.A548V|ZNF611_ENST00000453741.2_Missense_Mutation_p.A479V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	548					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGAATGACACGCAAAAGCCTT	0.398													-|||	1	0.000199681	0.0	0.0014	5008	,	,		23540	0.0		0.0	False		,,,				2504	0.0					ENST00000543227.1																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1642-1644)gCg>gTg		zinc finger protein 611							182.0	181.0	181.0					19																	53208665		2203	4298	6501	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208665G>A	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1643C>T	19.37:g.53208665G>A	ENSP00000322427:p.Ala548Val					ZNF611_ENST00000595798.1_Missense_Mutation_p.A479V|ZNF611_ENST00000319783.1_Missense_Mutation_p.A548V|ZNF611_ENST00000453741.2_Missense_Mutation_p.A479V|ZNF611_ENST00000540744.1_Missense_Mutation_p.A548V|ZNF611_ENST00000602162.1_Missense_Mutation_p.A479V	p.A548V	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	1917	-			548					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1643C>T	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	7.266	0.606196	0.14002	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.17854	2.25;2.25;3.69;2.25	1.11	-1.76	0.08006	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	L	0.45744	1.44	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.31336	-0.9947	9	0.40728	T	0.16	.	4.28	0.10827	0.0:0.4486:0.3263:0.2251	.	548	Q8N823	ZN611_HUMAN	V	548;548;479;548	ENSP00000437616:A548V;ENSP00000439211:A548V;ENSP00000443505:A479V;ENSP00000322427:A548V	ENSP00000322427:A548V	A	-	2	0	ZNF611	57900477	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-9.157000	0.00013	-0.450000	0.07107	0.306000	0.20318	GCG		0.398	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		6	947	0	0	0	1	0	6	947				
BRCA2	675	broad.mit.edu	37	13	32912028	32912028	+	Missense_Mutation	SNP	G	G	A	rs397507674		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr13:32912028G>A	ENST00000380152.3	+	11	3769	c.3536G>A	c.(3535-3537)aGc>aAc	p.S1179N	BRCA2_ENST00000544455.1_Missense_Mutation_p.S1179N			P51587	BRCA2_HUMAN	breast cancer 2, early onset	1179			S -> N (in BC). {ECO:0000269|PubMed:11139248}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAGACAGCAGCAAGCAATTT	0.388			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1			yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CM003132	BRCA2	M		c.(3535-3537)aGc>aAc	Homologous recombination	breast cancer 2, early onset							93.0	93.0	93.0					13																	32912028		2203	4300	6503	SO:0001583	missense	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32912028G>A	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.3536G>A	13.37:g.32912028G>A	ENSP00000369497:p.Ser1179Asn	TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S1179N	p.S1179N	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	11	3763	+		Lung SC(185;0.0262)	1179		S -> N (in BC).			O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.3536G>A	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	G	1.834	-0.469214	0.04445	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00730	5.77;5.77	5.75	2.62	0.31277	.	0.385490	0.28031	N	0.016874	T	0.00875	0.0029	L	0.47190	1.495	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.46555	-0.9183	10	0.30078	T	0.28	.	6.9243	0.24405	0.3028:0.1303:0.5668:0.0	.	1179	P51587	BRCA2_HUMAN	N	1179	ENSP00000369497:S1179N;ENSP00000439902:S1179N	ENSP00000369497:S1179N	S	+	2	0	BRCA2	31810028	0.007000	0.16637	0.502000	0.27614	0.061000	0.15899	0.370000	0.20433	0.763000	0.33175	0.655000	0.94253	AGC		0.388	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059		6	476	0	0	0	1	0	6	476				
ME3	10873	broad.mit.edu	37	11	86209141	86209141	+	Missense_Mutation	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:86209141C>T	ENST00000393324.3	-	5	822	c.569G>A	c.(568-570)cGc>cAc	p.R190H	ME3_ENST00000323418.6_Missense_Mutation_p.R128H|ME3_ENST00000359636.2_Missense_Mutation_p.R190H|ME3_ENST00000543262.1_Missense_Mutation_p.R190H|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000525957.1_5'UTR	NM_001014811.1	NP_001014811.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	190					aerobic respiration (GO:0009060)|malate metabolic process (GO:0006108)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|pyruvate metabolic process (GO:0006090)	mitochondrion (GO:0005739)	cofactor binding (GO:0048037)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|oxaloacetate decarboxylase activity (GO:0008948)			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)				GCCCAGGATGCGCTCCCCATC	0.632																																						ENST00000543262.1																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(568-570)cGc>cAc		malic enzyme 3, NADP(+)-dependent, mitochondrial	NADH(DB00157)						90.0	81.0	84.0					11																	86209141		2202	4299	6501	SO:0001583	missense	10873				aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	g.chr11:86209141C>T	X79440	CCDS8277.1	11q14.2	2012-09-20			ENSG00000151376	ENSG00000151376	1.1.1.40		6985	protein-coding gene	gene with protein product		604626				7818469	Standard	NM_001161586		Approved		uc001pbz.3	Q16798	OTTHUMG00000167217	ENST00000393324.3:c.569G>A	11.37:g.86209141C>T	ENSP00000376998:p.Arg190His					ME3_ENST00000393324.3_Missense_Mutation_p.R190H|ME3_ENST00000525957.1_5'UTR|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.R128H|ME3_ENST00000359636.2_Missense_Mutation_p.R190H	p.R190H	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN			6	895	-		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)	190					B7Z6V0|Q8TBJ0	Missense_Mutation	SNP	ENST00000393324.3	37	c.569G>A	CCDS8277.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511271	0.85389	.	.	ENSG00000151376	ENST00000359636;ENST00000543262;ENST00000393324;ENST00000524826;ENST00000545395;ENST00000323418	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	5.63	4.72	0.59763	Malic enzyme, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.79317	0.4425	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86637	0.1889	9	.	.	.	.	14.1833	0.65588	0.0:0.9276:0.0:0.0724	.	190	Q16798	MAON_HUMAN	H	190;190;190;190;128;128	ENSP00000352657:R190H;ENSP00000440246:R190H;ENSP00000376998:R190H;ENSP00000431182:R190H;ENSP00000315255:R128H	.	R	-	2	0	ME3	85886789	1.000000	0.71417	0.997000	0.53966	0.701000	0.40568	7.619000	0.83057	1.382000	0.46385	-0.136000	0.14681	CGC		0.632	ME3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393767.2			5	512	0	0	0	1	0	5	512				
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G|SNORA41_ENST00000384675.1_RNA|NDUFS1_ENST00000455934.2_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468																																						ENST00000392222.2																			4	Substitution - Missense(4)	p.S43G(4)	endometrium(2)|lung(1)|kidney(1)	breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(127-129)Agc>Ggc		eukaryotic translation elongation factor 1 beta 2							109.0	99.0	102.0					2																	207025358		2203	4300	6503	SO:0001583	missense	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207025358A>G	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	ENST00000392222.2:c.127A>G	2.37:g.207025358A>G	ENSP00000376056:p.Ser43Gly					EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN			2	502	+			43			GST C-terminal.		A8K795|Q6IBH9	Missense_Mutation	SNP	ENST00000392222.2	37	c.127A>G	CCDS2367.1	.	.	.	.	.	.	.	.	.	.	A	0.014	-1.585588	0.00872	.	.	ENSG00000114942	ENST00000236957;ENST00000392221;ENST00000392222;ENST00000445505	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.47	0.911	0.19343	Glutathione S-transferase, C-terminal-like (2);	0.442134	0.26800	N	0.022437	T	0.19846	0.0477	N	0.16098	0.37	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18745	-1.0327	10	0.17832	T	0.49	-2.1703	6.3337	0.21285	0.2348:0.0:0.6384:0.1268	.	43	P24534	EF1B_HUMAN	G	43	ENSP00000236957:S43G;ENSP00000376055:S43G;ENSP00000376056:S43G;ENSP00000407730:S43G	ENSP00000236957:S43G	S	+	1	0	EEF1B2	206733603	0.049000	0.20398	0.145000	0.22337	0.051000	0.14879	0.879000	0.28146	-0.027000	0.13873	-0.252000	0.11476	AGC		0.468	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	NM_001037663		6	408	0	0	0	1	0	6	408				
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:16285788C>T	ENST00000395837.1	+	2	748	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000302182.3_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			1	Substitution - coding silent(1)	p.P189P(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(565-567)ccC>ccT		ubiquitin B							55.0	59.0	58.0					17																	16285788		2203	4297	6500	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285788C>T		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.567C>T	17.37:g.16285788C>T						RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395837.1_Silent_p.P189P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000578649.1_3'UTR	p.P189P	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	959	+			189			Ubiquitin-like 3.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.567C>T	CCDS11177.1																																																																																				0.552	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		5	344	0	0	0	1	0	5	344				
FLII	2314	broad.mit.edu	37	17	18148568	18148568	+	Missense_Mutation	SNP	G	G	A	rs374095780		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:18148568G>A	ENST00000327031.4	-	30	3919	c.3694C>T	c.(3694-3696)Cgg>Tgg	p.R1232W	FLII_ENST00000545457.2_Missense_Mutation_p.R1177W|FLII_ENST00000578558.1_Intron|FLII_ENST00000379450.4_Missense_Mutation_p.R1146W|FLII_ENST00000579294.1_Missense_Mutation_p.R1221W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1232					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCCTTGGACCGCATGTGCTGG	0.657																																						ENST00000327031.4																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(3694-3696)Cgg>Tgg		flightless I homolog (Drosophila)		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	92.0	94.0	93.0		3694	2.9	1.0	17		93	0,8600		0,0,4300	no	missense	FLII	NM_002018.2	101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1232/1270	18148568	1,13005	2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148568G>A	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3694C>T	17.37:g.18148568G>A	ENSP00000324573:p.Arg1232Trp					FLII_ENST00000379450.4_Missense_Mutation_p.R1146W|FLII_ENST00000579294.1_Missense_Mutation_p.R1221W|FLII_ENST00000578558.1_Intron|FLII_ENST00000545457.2_Missense_Mutation_p.R1177W	p.R1232W	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN			30	3919	-	all_neural(463;0.228)		1232					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3694C>T	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	G	15.32	2.798382	0.50208	2.27E-4	0.0	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.23348	1.91;1.91	5.01	2.86	0.33363	Gelsolin domain (1);	0.198108	0.38837	N	0.001550	T	0.49440	0.1557	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.983;0.983;0.998;0.998	T	0.57370	-0.7823	10	0.87932	D	0	-14.602	13.6195	0.62128	0.0:0.0:0.6303:0.3697	.	1146;1146;1232;1201	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	W	1232;1111;1146	ENSP00000324573:R1232W;ENSP00000368763:R1146W	ENSP00000324573:R1232W	R	-	1	2	FLII	18089293	1.000000	0.71417	0.985000	0.45067	0.086000	0.17979	1.488000	0.35551	1.316000	0.45131	0.655000	0.94253	CGG		0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		6	868	0	0	0	1	0	6	868				
FAM53B	9679	broad.mit.edu	37	10	126384776	126384776	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:126384776C>T	ENST00000337318.3	-	3	295	c.84G>A	c.(82-84)acG>acA	p.T28T	FAM53B_ENST00000280780.6_Silent_p.T28T|FAM53B_ENST00000392754.3_Silent_p.T28T|RP11-12J10.3_ENST00000494792.1_3'UTR	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	28										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCTTCTTTGGCGTGTGCTGAA	0.438																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(82-84)acG>acA		family with sequence similarity 53, member B							216.0	204.0	208.0					10																	126384776		2203	4300	6503	SO:0001819	synonymous_variant	9679							g.chr10:126384776C>T	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.84G>A	10.37:g.126384776C>T						RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.T28T|FAM53B_ENST00000392754.3_Silent_p.T28T	p.T28T	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	3	295	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	28					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Silent	SNP	ENST00000337318.3	37	c.84G>A	CCDS7641.1																																																																																				0.438	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		5	708	0	0	0	1	0	5	708				
EP400	57634	broad.mit.edu	37	12	132547138	132547138	+	Silent	SNP	A	A	G	rs111782215|rs561398509	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:132547138A>G	ENST00000333577.4	+	48	8443	c.8334A>G	c.(8332-8334)caA>caG	p.Q2778Q	EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000330386.6_Silent_p.Q2661Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000389561.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2778	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2741Q(3)|p.Q2742Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcaacagcagcagc	0.602													G|||	74	0.0147764	0.028	0.0086	5008	,	,		14914	0.0079		0.0119	False		,,,				2504	0.0112					ENST00000333577.4																			4	Substitution - coding silent(4)	p.Q2741Q(3)|p.Q2742Q(1)	prostate(2)|endometrium(1)|kidney(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8332-8334)caA>caG		E1A binding protein p400							48.0	40.0	43.0					12																	132547138		2203	4300	6503	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547138A>G	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8334A>G	12.37:g.132547138A>G						EP400_ENST00000332482.4_Silent_p.Q2705Q|EP400_ENST00000389561.2_Silent_p.Q2742Q|EP400_ENST00000389562.2_Silent_p.Q2741Q|EP400_ENST00000330386.6_Silent_p.Q2661Q	p.Q2778Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8443	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2778			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8334A>G																																																																																					0.602	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		10	320	0	0	0	1	0	10	320				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tggtggtggtggttgttgtgg	0.433																																						ENST00000537058.1																			5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1027-1029)acC>acA		cell adhesion molecule 1							45.0	50.0	49.0					11																	115080343		2201	4296	6497	SO:0001819	synonymous_variant	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080343G>T	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1029C>A	11.37:g.115080343G>T						CADM1_ENST00000452722.2_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000536727.1_Intron	p.T343T			Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1049	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	343	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					Silent	SNP	ENST00000452722.3	37	c.1029C>A	CCDS8373.1																																																																																				0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333		7	237	1	0	0.000157383	1	0.000161829	7	237				
C15orf54	400360	broad.mit.edu	37	15	39544396	39544396	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:39544396G>A	ENST00000318578.3	+	2	428	c.60G>A	c.(58-60)ccG>ccA	p.P20P	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P|RP11-624L4.1_ENST00000558209.1_RNA	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	20								p.P20P(1)		NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		GGGCTGAGCCGCAAAGAATTT	0.468																																						ENST00000318578.3																			1	Substitution - coding silent(1)	p.P20P(1)	lung(1)	NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5						c.(58-60)ccG>ccA		chromosome 15 open reading frame 54							200.0	201.0	200.0					15																	39544396		2200	4297	6497	SO:0001819	synonymous_variant	400360							g.chr15:39544396G>A		CCDS10049.1	15q14	2014-09-10			ENSG00000175746	ENSG00000175746			33797	protein-coding gene	gene with protein product							Standard	NM_207445		Approved	FLJ39531	uc001zkg.2	Q8N8G6	OTTHUMG00000129843	ENST00000318578.3:c.60G>A	15.37:g.39544396G>A						RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Silent_p.P20P	p.P20P	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)	2	428	+		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)	20					B7ZVZ9	Silent	SNP	ENST00000318578.3	37	c.60G>A	CCDS10049.1																																																																																				0.468	C15orf54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252083.1	NM_207445		6	1094	0	0	0	1	0	6	1094				
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			4	Substitution - coding silent(4)	p.P391P(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1171-1173)ccG>ccA									144.0	139.0	140.0					5																	140263026		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140263026G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1173G>A	5.37:g.140263026G>A						PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	p.P391P	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1173	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1173G>A	CCDS4240.1																																																																																				0.547	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		7	717	0	0	0	1	0	7	717				
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Intron	SNP	G	G	A	rs1047054	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:55172537G>A	ENST00000358460.4	-	3	405				FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000425133.2_Nonsense_Mutation_p.R111*|FAM104B_ENST00000478918.1_5'Flank|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000472571.2_3'UTR			Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B									p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438																																						ENST00000425133.2																			5	Substitution - Nonsense(5)	p.R111*(5)	endometrium(3)|kidney(2)	endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						c.(331-333)Cga>Tga		family with sequence similarity 104, member B							40.0	26.0	30.0					X																	55172537		692	1590	2282	SO:0001627	intron_variant	90736							g.chrX:55172537G>A	BC000919	CCDS35305.1, CCDS35305.2, CCDS55422.1, CCDS55423.1, CCDS55424.1, CCDS55425.1, CCDS55426.1	Xp11.22	2008-02-05	2006-05-16	2006-05-16	ENSG00000182518	ENSG00000182518			25085	protein-coding gene	gene with protein product			"""chromosome X open reading frame 44"""	CXorf44		12477932	Standard	NM_138362		Approved	FLJ20434	uc004dug.2	Q5XKR9	OTTHUMG00000021646	ENST00000358460.4:c.251+76C>T	X.37:g.55172537G>A						FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000472571.2_3'UTR	p.R111*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN			3	369	-			0					A6NEH1|B4DSV6|D6R9S5|D6RDJ5|E9PH40|Q8WVU5|Q9BRA1	Nonsense_Mutation	SNP	ENST00000358460.4	37	c.331C>T	CCDS35305.2	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937798	0.52972	.	.	ENSG00000182518	ENST00000425133;ENST00000477847;ENST00000489298	.	.	.	1.59	0.637	0.17735	.	.	.	.	.	.	.	.	.	.	.	0.26565	N	0.973663	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5036	0.11876	0.0:0.0:0.6198:0.3802	rs1047054;rs3175708;rs5003324	.	.	.	X	111;107;109	.	ENSP00000397188:R111X	R	-	1	2	FAM104B	55189262	0.997000	0.39634	0.180000	0.23079	0.415000	0.31203	1.026000	0.30103	0.126000	0.18424	0.429000	0.28392	CGA		0.438	FAM104B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056851.1	NM_138362		5	216	0	0	0	1	0	5	216				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		12	241	0	0	0	1	0	12	241				
LOC220729	220729	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs376114863		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478																																						ENST00000418868.1																			0																																																			0							g.chr3:197348674A>G																													3.37:g.197348674A>G								NR_003266.2						0	585	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.478	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			6	528	0	0	0	1	0	6	528				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		7	499	0	0	0	1	0	7	499				
SPDYE3	441272	broad.mit.edu	37	7	99913460	99913460	+	Silent	SNP	A	A	G	rs201349757		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:99913460A>G	ENST00000332397.6	+	7	1438	c.1254A>G	c.(1252-1254)tcA>tcG	p.S418S	SPDYE3_ENST00000437326.2_Silent_p.S41S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN	speedy/RINGO cell cycle regulator family member E3	418								p.S418S(11)		endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						TGAGGGTGTCAGACAAGGTAA	0.522																																						ENST00000332397.6																			11	Substitution - coding silent(11)	p.S418S(11)	endometrium(10)|prostate(1)	endometrium(10)|kidney(1)|lung(8)|urinary_tract(1)	20						c.(1252-1254)tcA>tcG		speedy/RINGO cell cycle regulator family member E3							253.0	273.0	266.0					7																	99913460		2091	3956	6047	SO:0001819	synonymous_variant	441272							g.chr7:99913460A>G	BC056606	CCDS47658.1, CCDS47658.2	7q22.1	2013-05-08	2013-05-08		ENSG00000214300	ENSG00000214300		"""Speedy homologs"""	35462	protein-coding gene	gene with protein product			"""speedy homolog E3 (Xenopus laevis)"""				Standard	NM_001004351		Approved		uc022aij.1	A6NKU9	OTTHUMG00000155462	ENST00000332397.6:c.1254A>G	7.37:g.99913460A>G						SPDYE3_ENST00000437326.2_Silent_p.S41S	p.S418S	NM_001004351.4	NP_001004351.3	A6NKU9	SPDE3_HUMAN			7	1438	+			418					Q495Y9|Q6PHC4	Silent	SNP	ENST00000332397.6	37	c.1254A>G	CCDS47658.2																																																																																				0.522	SPDYE3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340224.2	NM_001004351		9	1240	0	0	0	1	0	9	1240				
SCARNA2	677766	broad.mit.edu	37	1	109642858	109642858	+	lincRNA	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:109642858G>A	ENST00000458748.1	+	0	44					NR_003023.1				small Cajal body-specific RNA 2																		TGTTGTGTGCGGAGCTGTGGC	0.667																																						ENST00000458748.1																			0																				25.0	25.0	25.0					1																	109642858		876	1991	2867			0							g.chr1:109642858G>A	BK005568		1q13.1	2013-09-05			ENSG00000238881	ENSG00000270066		"""ncRNAs / Small nucleolar RNAs : Small cajal body-specific"""	32558	non-coding RNA	RNA, small nucleolar						15556860	Standard	NR_003023		Approved	mgU2-25/61, HBII-382	uc001dwo.1				1.37:g.109642858G>A								NR_003023.1						0	44	+									RNA	SNP	ENST00000458748.1	37																																																																																						0.667	SCARNA2-201	KNOWN	basic	snoRNA	lincRNA		NR_003023		4	122	0	0	0	1	0	4	122				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		11	809	0	0	0	1	0	11	809				
PSG9	5678	broad.mit.edu	37	19	43763169	43763169	+	Silent	SNP	G	G	A	rs2355449		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:43763169G>A	ENST00000270077.3	-	4	924	c.828C>T	c.(826-828)aaC>aaT	p.N276N	PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000418820.2_Silent_p.N183N|PSG9_ENST00000443718.3_Silent_p.N183N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	276	Ig-like C2-type 2.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGCTCTGACCGTTTAGCCACC	0.473																																						ENST00000418820.2																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						c.(547-549)aaC>aaT		pregnancy specific beta-1-glycoprotein 9		A		2,4298		0,2,2148	220.0	231.0	227.0		828	-2.8	0.0	19	dbSNP_100	227	2,8562		0,2,4280	no	coding-synonymous	PSG9	NM_002784.3		0,4,6428	AA,AG,GG		0.0234,0.0465,0.0311		276/427	43763169	4,12860	2150	4282	6432	SO:0001819	synonymous_variant	5678				female pregnancy	extracellular region		g.chr19:43763169G>A	M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.828C>T	19.37:g.43763169G>A						PSG9_ENST00000443718.3_Silent_p.N183N|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000270077.3_Silent_p.N276N|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron	p.N183N			Q00887	PSG9_HUMAN			3	647	-		Prostate(69;0.00682)	183			Ig-like C2-type 1.		B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	ENST00000270077.3	37	c.549C>T	CCDS12618.1																																																																																				0.473	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323065.1	NM_002784		8	1437	0	0	0	1	0	8	1437				
PRG4	10216	broad.mit.edu	37	1	186276405	186276405	+	Silent	SNP	T	T	C			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:186276405T>C	ENST00000445192.2	+	7	1599	c.1554T>C	c.(1552-1554)acT>acC	p.T518T	PRG4_ENST00000367485.4_Silent_p.T425T|PRG4_ENST00000367483.4_Silent_p.T477T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T475T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	518	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.642																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1552-1554)acT>acC		proteoglycan 4							127.0	117.0	121.0					1																	186276405		2203	4299	6502	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276405T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1554T>C	1.37:g.186276405T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T477T|PRG4_ENST00000367486.3_Silent_p.T475T|PRG4_ENST00000367485.4_Silent_p.T425T	p.T518T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1599	+			518			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1554T>C	CCDS1369.1																																																																																				0.642	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		11	669	0	0	0	1	0	11	669				
LOC653786	653786	broad.mit.edu	37	16	22588087	22588087	+	RNA	SNP	G	G	C	rs371946225	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:22588087G>C	ENST00000550753.1	+	0	2562					NR_003676.2																						GTGGGACACCGTTCCCTGGAT	0.522																																						ENST00000550753.1																			0																																																			0							g.chr16:22588087G>C																													16.37:g.22588087G>C								NR_003676.2						0	2562	+									RNA	SNP	ENST00000550753.1	37																																																																																						0.522	RP11-368J21.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409041.1			5	110	0	0	0	1	0	5	110				
AGAP10	728127	broad.mit.edu	37	10	47207828	47207828	+	Missense_Mutation	SNP	C	C	A	rs587691689	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:47207828C>A	ENST00000452145.2	-	4	491	c.380G>T	c.(379-381)aGc>aTc	p.S127I	AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000355232.3_Missense_Mutation_p.S152I			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	127					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.S223I(4)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TGTACAGTTGCTTCTTCTTAT	0.264													c|||	4	0.000798722	0.0	0.0	5008	,	,		10150	0.0		0.0	False		,,,				2504	0.0041					ENST00000355232.3																			4	Substitution - Missense(4)	p.S223I(4)	lung(2)|kidney(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.(454-456)aGc>aTc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001583	missense	728127							g.chr10:47207828C>A	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.380G>T	10.37:g.47207828C>A	ENSP00000392206:p.Ser127Ile					RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Missense_Mutation_p.S223I|AGAP10_ENST00000452145.2_Missense_Mutation_p.S127I	p.S152I							5	3467	-									Missense_Mutation	SNP	ENST00000452145.2	37	c.455G>T		.	.	.	.	.	.	.	.	.	.	c	8.454	0.853638	0.17106	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;D;D	0.88818	-2.37;-2.43;-2.37	1.4	1.4	0.22301	.	0.201708	0.42821	D	0.000652	T	0.81009	0.4734	.	.	.	0.20873	N	0.999835	B	0.30068	0.267	B	0.22386	0.039	T	0.74725	-0.3568	9	0.87932	D	0	.	8.772	0.34737	0.0:1.0:0.0:0.0	.	127	Q5T2P9	AGA10_HUMAN	I	127;223;152	ENSP00000392206:S127I;ENSP00000407436:S223I;ENSP00000347372:S152I	ENSP00000347372:S152I	S	-	2	0	AGAP10	46627834	1.000000	0.71417	0.998000	0.56505	0.273000	0.26683	1.432000	0.34936	1.086000	0.41228	0.194000	0.17425	AGC		0.264	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2		7	194	1	0	0.0692343	1	0.0700036	7	194				
TCHH	7062	broad.mit.edu	37	1	152082606	152082606	+	Silent	SNP	T	T	C	rs201965717		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3085-3087)gaA>gaG		trichohyalin							111.0	113.0	112.0					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		6	775	0	0	0	1	0	6	775				
KRTAP4-12	83755	broad.mit.edu	37	17	39280087	39280087	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:39280087G>A	ENST00000394014.1	-	1	332	c.288C>T	c.(286-288)tgC>tgT	p.C96C		NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	keratin associated protein 4-12	96	31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].					keratin filament (GO:0045095)		p.C96C(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGGTGGGCTGGCAGCACACAG	0.667																																						ENST00000394014.1																			2	Substitution - coding silent(2)	p.C96C(2)	large_intestine(1)|endometrium(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(286-288)tgC>tgT		keratin associated protein 4-12							31.0	36.0	34.0					17																	39280087		2139	4174	6313	SO:0001819	synonymous_variant	83755					keratin filament		g.chr17:39280087G>A	AJ406943	CCDS32649.1	17q21.2	2013-06-25			ENSG00000213416	ENSG00000213416		"""Keratin associated proteins"""	16776	protein-coding gene	gene with protein product						11279113	Standard	NM_031854		Approved	KAP4.12	uc002hwa.3	Q9BQ66	OTTHUMG00000133632	ENST00000394014.1:c.288C>T	17.37:g.39280087G>A							p.C96C	NM_031854.2	NP_114060.1	Q9BQ66	KR412_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	332	-		Breast(137;0.000496)	96			31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC].		A3KMC5|Q495I0	Silent	SNP	ENST00000394014.1	37	c.288C>T	CCDS32649.1																																																																																				0.667	KRTAP4-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257777.1			9	573	0	0	0	1	0	9	573				
PTPRB	5787	broad.mit.edu	37	12	70946613	70946613	+	Silent	SNP	G	G	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:70946613G>A	ENST00000261266.5	-	19	4706	c.4677C>T	c.(4675-4677)tgC>tgT	p.C1559C	PTPRB_ENST00000550857.1_Silent_p.C1469C|PTPRB_ENST00000451516.2_Silent_p.C1469C|PTPRB_ENST00000538708.1_Silent_p.C1469C|PTPRB_ENST00000550358.1_Silent_p.C1689C|PTPRB_ENST00000334414.6_Silent_p.C1777C	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1559				C -> R (in Ref. 1; CAA38066). {ECO:0000305}.	angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGTGGGATCGCATTTTCCAC	0.428																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5329-5331)tgC>tgT		protein tyrosine phosphatase, receptor type, B							124.0	118.0	120.0					12																	70946613		1927	4149	6076	SO:0001819	synonymous_variant	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70946613G>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4677C>T	12.37:g.70946613G>A						PTPRB_ENST00000538708.1_Silent_p.C1469C|PTPRB_ENST00000261266.5_Silent_p.C1559C|PTPRB_ENST00000550857.1_Silent_p.C1469C|PTPRB_ENST00000550358.1_Silent_p.C1689C|PTPRB_ENST00000451516.2_Silent_p.C1469C	p.C1777C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		21	5375	-	Renal(347;0.236)		1559			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.5331C>T	CCDS44944.1																																																																																				0.428	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			6	291	0	0	0	1	0	6	291				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	208	0	0	0	1	0	4	208				
PNPLA6	10908	broad.mit.edu	37	19	7615191	7615191	+	Missense_Mutation	SNP	C	C	T	rs548509810		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:7615191C>T	ENST00000221249.6	+	18	2136	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R543C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R608C|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R569C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R617C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	608			G -> W (in BNHS). {ECO:0000269|PubMed:24355708}.		angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CAGGATCATGCGCGCACAGCC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19172	0.0		0.0	False		,,,				2504	0.0					ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1705-1707)Cgc>Tgc		patatin-like phospholipase domain containing 6							70.0	68.0	69.0					19																	7615191		2199	4288	6487	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7615191C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.1705C>T	19.37:g.7615191C>T	ENSP00000221249:p.Arg569Cys					PNPLA6_ENST00000450331.3_Missense_Mutation_p.R569C|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R617C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R608C|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R543C	p.R569C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			18	2136	+			608					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.1705C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240367	0.79912	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	D;D;D;D	0.93133	-3.17;-3.17;-3.17;-3.17	5.1	5.1	0.69264	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);	0.000000	0.85682	D	0.000000	D	0.96867	0.8977	M	0.89785	3.06	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.997;0.997;0.988	D	0.97186	0.9854	10	0.87932	D	0	.	11.164	0.48533	0.1838:0.8162:0.0:0.0	.	608;543;608;569	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	C	569;543;617;569	ENSP00000221249:R569C;ENSP00000443323:R543C;ENSP00000407509:R617C;ENSP00000394348:R569C	ENSP00000221249:R569C	R	+	1	0	PNPLA6	7521191	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	2.949000	0.49074	2.383000	0.81215	0.591000	0.81541	CGC		0.622	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		6	641	0	0	0	1	0	6	641				
GABRD	2563	broad.mit.edu	37	1	1956774	1956774	+	Splice_Site	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:1956774delC	ENST00000378585.4	+	3	266	c.183delC	c.(181-183)ggc>gg	p.G61fs		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	61					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V64fs*365(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCCTTGCAGGCCCCCCCGTGA	0.647																																						ENST00000378585.4																			1	Insertion - Frameshift(1)	p.V64fs*365(1)	lung(1)	central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.e3-1		gamma-aminobutyric acid (GABA) A receptor, delta							70.0	76.0	74.0					1																	1956774		2203	4299	6502	SO:0001630	splice_region_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1956774delC	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.182-1C>-	1.37:g.1956774delC							p.G61_splice	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	3	266	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	61					Q8N4N9	Splice_Site	DEL	ENST00000378585.4	37	c.181_splice	CCDS36.1																																																																																				0.647	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815	Frame_Shift_Del	7	811						7	811	---	---	---	---
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		15	297						15	297	---	---	---	---
AZIN2	113451	broad.mit.edu	37	1	33583674	33583675	+	Frame_Shift_Ins	INS	-	-	C	rs576544248		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:33583674_33583675insC	ENST00000294517.6	+	11	1788_1789	c.1201_1202insC	c.(1201-1203)accfs	p.T401fs	ADC_ENST00000373443.3_Frame_Shift_Ins_p.T401fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.T421fs|ADC_ENST00000484656.1_3'UTR	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		401					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	CTTTTGGGGGACCCAGGCCTGC	0.624																																						ENST00000294517.6																			0				NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11						c.(1201-1203)ccafs		arginine decarboxylase	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)																																			SO:0001589	frameshift_variant	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33583674_33583675insC																												ENST00000294517.6:c.1204dupC	1.37:g.33583677_33583677dupC	ENSP00000294517:p.Thr401fs					ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373443.3_Frame_Shift_Ins_p.P401fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.P421fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.P421fs	p.P401fs	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN			11	1788_1789	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	401					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	ENST00000294517.6	37	c.1201_1202insC	CCDS375.1																																																																																				0.624	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			13	609						13	609	---	---	---	---
GPATCH4	54865	broad.mit.edu	37	1	156565503	156565504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr1:156565503_156565504insT	ENST00000438976.2	-	8	659_660	c.629_630insA	c.(628-630)aagfs	p.K210fs	GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000368232.4_Frame_Shift_Ins_p.K205fs			Q5T3I0	GPTC4_HUMAN	G patch domain containing 4	205							poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTTTCTTTTTCTTTTTTTTGGG	0.535																																						ENST00000368232.4																			0				autonomic_ganglia(1)|breast(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(3)|stomach(1)	17						c.(613-615)aaafs		G patch domain containing 4																																				SO:0001589	frameshift_variant	54865					intracellular	nucleic acid binding	g.chr1:156565503_156565504insT	BC056904	CCDS1146.1, CCDS44245.1	1q22	2013-01-28		2006-12-13	ENSG00000160818	ENSG00000160818		"""G patch domain containing"""	25982	protein-coding gene	gene with protein product				GPATC4		12477932	Standard	NM_015590		Approved	FLJ20249, DKFZP434F1735	uc001fpl.3	Q5T3I0	OTTHUMG00000033203	ENST00000438976.2:c.630dupA	1.37:g.156565511_156565511dupT	ENSP00000396441:p.Lys210fs					GPATCH4_ENST00000497287.1_5'UTR|GPATCH4_ENST00000438976.2_Frame_Shift_Ins_p.K210fs	p.K205fs	NM_015590.3|NM_182679.2	NP_056405.2|NP_872620.1	Q5T3I0	GPTC4_HUMAN			8	746_747	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		205					Q5T3I1|Q6ZUE7|Q8IWG8|Q9NXH4	Frame_Shift_Ins	INS	ENST00000438976.2	37	c.614_615insA	CCDS44245.1																																																																																				0.535	GPATCH4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386947.1	NM_017725		7	542						7	542	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:38710019delT	ENST00000417039.1	-	0	696																											CTTtaaaaaataaataaataa	0.244																																						ENST00000417039.1																			0																																																			0							g.chr2:38710019delT																													2.37:g.38710019delT														0	696	-									RNA	DEL	ENST00000417039.1	37																																																																																						0.244	AC016995.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000331173.1			8	39						8	39	---	---	---	---
NCKAP5	344148	broad.mit.edu	37	2	133541084	133541084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:133541084delG	ENST00000409261.1	-	14	3673	c.3300delC	c.(3298-3300)cccfs	p.P1100fs	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P1100fs|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1100	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGAAGGCTTGGGGGGTGTGG	0.502																																						ENST00000409261.1																			0				NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						c.(3298-3300)ccfs		NCK-associated protein 5							239.0	253.0	248.0					2																	133541084		2028	4185	6213	SO:0001589	frameshift_variant	344148						protein binding	g.chr2:133541084delG	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3300delC	2.37:g.133541084delG	ENSP00000387128:p.Pro1100fs					NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Frame_Shift_Del_p.P1100fs	p.P1100fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN			14	3673	-			1100			Ser-rich.		B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Frame_Shift_Del	DEL	ENST00000409261.1	37	c.3300delC	CCDS46418.1																																																																																				0.502	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481		7	1686						7	1686	---	---	---	---
PLA2R1	22925	broad.mit.edu	37	2	160801441	160801442	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:160801441_160801442insT	ENST00000283243.7	-	28	4325_4326	c.4119_4120insA	c.(4117-4122)aaaggcfs	p.G1374fs	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1374	C-type lectin 8. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CATATAAAGCCTTTTTTTTCTT	0.401																																						ENST00000283243.7																		PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(4117-4122)aagcttfs		phospholipase A2 receptor 1, 180kDa																																				SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160801441_160801442insT	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.4120dupA	2.37:g.160801449_160801449dupT	ENSP00000283243:p.Gly1374fs					PLA2R1_ENST00000460710.1_5'UTR	p.L1374fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN			28	4325_4326	-			1374			C-type lectin 8.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Ins	INS	ENST00000283243.7	37	c.4119_4120insA	CCDS33309.1																																																																																				0.401	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1			9	805						9	805	---	---	---	---
HIBCH	26275	broad.mit.edu	37	2	191161629	191161629	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr2:191161629delT	ENST00000359678.5	-	3	423	c.129delA	c.(127-129)aaafs	p.K43fs	HIBCH_ENST00000392332.3_Frame_Shift_Del_p.K43fs	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	43					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCGTGCAACCTTTTTTTTCCA	0.353																																						ENST00000392332.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13						c.(127-129)aafs		3-hydroxyisobutyryl-CoA hydrolase							116.0	104.0	108.0					2																	191161629		2203	4300	6503	SO:0001589	frameshift_variant	26275				branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding	g.chr2:191161629delT	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.129delA	2.37:g.191161629delT	ENSP00000352706:p.Lys43fs					HIBCH_ENST00000359678.5_Frame_Shift_Del_p.K43fs	p.K43fs			Q6NVY1	HIBCH_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)		3	268	-			43					D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Frame_Shift_Del	DEL	ENST00000359678.5	37	c.129delA	CCDS2304.1																																																																																				0.353	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1			10	268						10	268	---	---	---	---
SETD2	29072	broad.mit.edu	37	3	47103755	47103756	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:47103755_47103756delTC	ENST00000409792.3	-	14	6232_6233	c.6190_6191delGA	c.(6190-6192)gacfs	p.D2064fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2064					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTTGTCTGGGTCTCTCTCTCTT	0.485			"""N, F, S, Mis"""		clear cell renal carcinoma																																	ENST00000409792.3				Rec	yes		3	3p21.31	29072	"""N, F, S, Mis"""	SET domain containing 2			E			clear cell renal carcinoma		0				breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141						c.(6190-6192)cfs		SET domain containing 2																																				SO:0001589	frameshift_variant	29072				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	g.chr3:47103755_47103756delTC	AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.6190_6191delGA	3.37:g.47103763_47103764delTC	ENSP00000386759:p.Asp2064fs					SETD2_ENST00000492397.1_5'UTR	p.D2064fs	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)	14	6232_6233	-		Acute lymphoblastic leukemia(5;0.0169)	2064					O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Frame_Shift_Del	DEL	ENST00000409792.3	37	c.6190_6191delGA	CCDS2749.2																																																																																				0.485	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2	NM_014159		8	1528						8	1528	---	---	---	---
TREX1	11277	broad.mit.edu	37	3	48508192	48508192	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:48508192delC	ENST00000422277.2	+	1	964	c.303delC	c.(301-303)agcfs	p.S101fs	TREX1_ENST00000456089.1_Intron|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000296443.9_Frame_Shift_Del_p.S46fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|SHISA5_ENST00000465449.1_5'Flank|TREX1_ENST00000492235.1_3'UTR	NM_016381.4	NP_057465.1	Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	101					cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCTGGAGAGCCCCCCCACCT	0.647																																						ENST00000296443.9																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9						c.(136-138)agfs		three prime repair exonuclease 1							78.0	82.0	81.0					3																	48508192		2203	4300	6503	SO:0001589	frameshift_variant	11277				cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding	g.chr3:48508192delC	AF151105	CCDS2769.1, CCDS59451.1	3p21.31	2014-09-17			ENSG00000213689	ENSG00000213689			12269	protein-coding gene	gene with protein product		606609	"""Aicardi-Goutieres syndrome 1"""	AGS1		10391904, 10393201, 16845398	Standard	NM_033629		Approved	DRN3	uc010hka.4	Q9NSU2	OTTHUMG00000156205	ENST00000422277.2:c.303delC	3.37:g.48508192delC	ENSP00000390478:p.Ser101fs					TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.S36fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.S46fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000422277.2_Frame_Shift_Del_p.S101fs|TREX1_ENST00000456089.1_Intron	p.S46fs			Q9NSU2	TREX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	3	1025	+			101					B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2	Frame_Shift_Del	DEL	ENST00000422277.2	37	c.138delC	CCDS43086.1																																																																																				0.647	TREX1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_016381		8	935						8	935	---	---	---	---
RHOA	387	broad.mit.edu	37	3	49395674	49395676	+	IGR	DEL	GCC	GCC	-	rs71077799|rs56041243|rs139760138|rs17838762	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr3:49395674_49395676delGCC	ENST00000418115.1	-	0	2031				GPX1_ENST00000419783.1_In_Frame_Del_p.12_13AA>A|GPX1_ENST00000419349.1_In_Frame_Del_p.12_13AA>A|GPX1_ENST00000496791.1_5'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A						actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.A12_A13delAA(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CACCGACTGGgccgccgccgccg	0.69														3825	0.763778	0.5257	0.7406	5008	,	,		9124	0.9742		0.7386	False		,,,				2504	0.911					ENST00000419783.1																			1	Deletion - In frame(1)	p.A12_A13delAA(1)	breast(1)	breast(1)|large_intestine(2)|lung(1)	4						c.(34-39)gcc>gc		glutathione peroxidase 1	Glutathione(DB00143)																																			SO:0001628	intergenic_variant	2876				anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	g.chr3:49395674_49395676delGCC	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838		3.37:g.49395683_49395685delGCC						GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del|GPX1_ENST00000496791.1_5'UTR	p.AA12del	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	1	357_359	-			12					P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	In_Frame_Del	DEL	ENST00000418115.1	37	c.36_38delGGC	CCDS2795.1																																																																																				0.690	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		10	15						10	15	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:4204225_4204229delTTGAG	ENST00000296358.4	-	4	700_704	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.LN226fs		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	226					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L226fs*1(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502																																						ENST00000296358.4																			1	Deletion - Frameshift(1)	p.L226fs*1(1)	liver(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(676-681)tfs		otopetrin 1																																				SO:0001589	frameshift_variant	133060				biomineral tissue development	extracellular space|integral to membrane		g.chr4:4204225_4204229delTTGAG	BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.676_680delCTCAA	4.37:g.4204225_4204229delTTGAG	ENSP00000296358:p.Leu226fs						p.LN226fs	NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	4	700_704	-			226					A1L476	Frame_Shift_Del	DEL	ENST00000296358.4	37	c.676_680delCTCAA	CCDS3372.1																																																																																				0.502	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		9	603						9	603	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		7	338						7	338	---	---	---	---
HMGB2	3148	broad.mit.edu	37	4	174253277	174253279	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:174253277_174253279delTCC	ENST00000296503.5	-	5	1455_1457	c.582_584delGGA	c.(580-585)gaggaa>gaa	p.194_195EE>E	HMGB2_ENST00000446922.2_In_Frame_Del_p.194_195EE>E|RP11-798M19.3_ENST00000507803.1_RNA|HMGB2_ENST00000438704.2_In_Frame_Del_p.194_195EE>E			P26583	HMGB2_HUMAN	high mobility group box 2	194	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)	p.E194E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		atcttcttcttcctcctcctcct	0.468																																						ENST00000296503.5																			1	Substitution - coding silent(1)	p.E194E(1)	endometrium(1)	endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14						c.(580-585)gaa>ga		high mobility group box 2			,,	25,4237		10,5,2116					,,	-1.4	1.0			279	85,8161		40,5,4078	no	coding,coding,coding	HMGB2	NM_002129.3,NM_001130689.1,NM_001130688.1	,,	50,10,6194	A1A1,A1R,RR		1.0308,0.5866,0.8794	,,	,,		110,12398				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253277_174253279delTCC		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.582_584delGGA	4.37:g.174253286_174253288delTCC	ENSP00000296503:p.Glu197del					HMGB2_ENST00000438704.2_In_Frame_Del_p.EE196del|HMGB2_ENST00000446922.2_In_Frame_Del_p.EE196del	p.EE196del			P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	5	1455_1457	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	196			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.582_584delGGA	CCDS3816.1																																																																																				0.468	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1	NM_001130688		7	364						7	364	---	---	---	---
LOC90768	90768	broad.mit.edu	37	4	182826808	182826809	+	RNA	INS	-	-	CTATTTAT	rs137929912|rs370938140	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr4:182826808_182826809insCTATTTAT	ENST00000509012.1	-	0	378																											CATATGATACACTATTTATTTA	0.322														1511	0.301717	0.3071	0.2536	5008	,	,		20913	0.3185		0.2336	False		,,,				2504	0.3814					ENST00000509012.1																			0																																																			0							g.chr4:182826808_182826809insCTATTTAT																													4.37:g.182826809_182826816dupCTATTTAT														0	378	-									RNA	INS	ENST00000509012.1	37																																																																																						0.322	AC108142.1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000361744.1			2	4						2	4	---	---	---	---
IRX4	50805	broad.mit.edu	37	5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-	rs561786759|rs369060686|rs200684951		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000231357.2_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685																																						ENST00000505790.1																			0				endometrium(1)|lung(7)|ovary(1)|prostate(1)	10						c.(682-687)ggg>g		iroquois homeobox 4																																				SO:0001651	inframe_deletion	50805				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:1879669_1879671delCCT	AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.683_685delAGG	5.37:g.1879678_1879680delCCT	ENSP00000423161:p.Glu228del					IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del	p.EG228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN		GBM - Glioblastoma multiforme(108;0.242)	5	1139_1141	-			228			Poly-Glu.		B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	In_Frame_Del	DEL	ENST00000505790.1	37	c.683_685delAGG	CCDS3867.1																																																																																				0.685	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365500.1	NM_016358		9	243						9	243	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32355893	32355893	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:32355893delT	ENST00000265069.8	-	20	3300	c.3198delA	c.(3196-3198)aaafs	p.K1066fs	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	1066	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTTTTGTCTTTTTTCCCCT	0.338																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(3196-3198)aafs		zinc finger RNA binding protein							135.0	131.0	132.0					5																	32355893		2203	4300	6503	SO:0001589	frameshift_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32355893delT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.3198delA	5.37:g.32355893delT	ENSP00000265069:p.Lys1066fs					ZFR_ENST00000510369.1_5'UTR	p.K1066fs	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	20	3300	-			1066					B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Frame_Shift_Del	DEL	ENST00000265069.8	37	c.3198delA	CCDS34139.1																																																																																				0.338	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			7	559						7	559	---	---	---	---
MSH3	4437	broad.mit.edu	37	5	79970915	79970915	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:79970915delA	ENST00000265081.6	+	7	1221	c.1141delA	c.(1141-1143)aaafs	p.K383fs		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	383					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|maintenance of DNA repeat elements (GO:0043570)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|heteroduplex DNA loop binding (GO:0000404)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		TGTTAGGGACAAAAAAAAGGG	0.348								Mismatch excision repair (MMR)																													Melanoma(88;1010 1399 13793 26548 36275)	ENST00000265081.6																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1141-1143)aafs	Mismatch excision repair (MMR)	mutS homolog 3							142.0	146.0	144.0					5																	79970915		2203	4300	6503	SO:0001589	frameshift_variant	4437				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding	g.chr5:79970915delA	U61981	CCDS34195.1	5q11-q12	2013-09-12	2013-09-12		ENSG00000113318	ENSG00000113318			7326	protein-coding gene	gene with protein product	"""Divergent upstream protein"", ""Mismatch repair protein 1"""	600887	"""mutS (E. coli) homolog 3"", ""mutS homolog 3 (E. coli)"""				Standard	NM_002439		Approved	DUP, MRP1	uc003kgz.4	P20585	OTTHUMG00000162540	ENST00000265081.6:c.1141delA	5.37:g.79970915delA	ENSP00000265081:p.Lys383fs						p.K383fs	NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)	7	1221	+		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)	383					A1L480|A1L482|A6NMM6|Q6PJT5|Q86UQ6|Q92867	Frame_Shift_Del	DEL	ENST00000265081.6	37	c.1141delA	CCDS34195.1																																																																																				0.348	MSH3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369471.1	NM_002439		9	845						9	845	---	---	---	---
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(697-702)acaaaafs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356129_121356130insA	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.707dupA	5.37:g.121356137_121356137dupA	ENSP00000341324:p.Lys234fs						p.TK233fs	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	771_772	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	233						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.699_700insA	CCDS43354.1																																																																																				0.401	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		7	486						7	486	---	---	---	---
OR2V2	285659	broad.mit.edu	37	5	180582648	180582648	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr5:180582648delA	ENST00000328275.1	+	1	706	c.706delA	c.(706-708)aaafs	p.K237fs		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCAGGCCTGGAAAAAGGCCCT	0.567																																						ENST00000328275.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(706-708)aafs		olfactory receptor, family 2, subfamily V, member 2							143.0	138.0	140.0					5																	180582648		2203	4300	6503	SO:0001589	frameshift_variant	285659				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180582648delA	AL161615	CCDS4461.1	5q35.3	2012-08-09			ENSG00000182613	ENSG00000182613		"""GPCR / Class A : Olfactory receptors"""	15341	protein-coding gene	gene with protein product				OR2V3			Standard	NM_206880		Approved	OST713	uc011dhj.2	Q96R30	OTTHUMG00000130933	ENST00000328275.1:c.706delA	5.37:g.180582648delA	ENSP00000332185:p.Lys237fs						p.K237fs	NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	706	+	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	237					Q6IFL6|Q8NGV1	Frame_Shift_Del	DEL	ENST00000328275.1	37	c.706delA	CCDS4461.1																																																																																				0.567	OR2V2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253529.1			7	611						7	611	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAACCCTGACTTCTCTTTCTGCAA	0.488																																						ENST00000376797.3																			0																																																			0							g.chr6:29977389_29977393delCTTCT	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977389_29977393delCTTCT						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	DEL	ENST00000376797.3	37																																																																																						0.488	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	126						7	126	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gaafs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.E19fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	222_223	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			7	899						7	899	---	---	---	---
CYP21A1P	1590	broad.mit.edu	37	6	31973891	31973891	+	IGR	DEL	T	T	-	rs572790007	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:31973891delT	ENST00000594256.1	-	0	69				CYP21A1P_ENST00000342991.6_RNA|C4A-AS1_ENST00000458633.1_RNA																							cttaaacaaattttttttttg	0.493														16	0.00319489	0.0053	0.0014	5008	,	,		16970	0.002		0.002	False		,,,				2504	0.0041					ENST00000342991.6																			0																				28.0	30.0	30.0					6																	31973891		679	1546	2225	SO:0001628	intergenic_variant	0						electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr6:31973891delT																													6.37:g.31973891delT								NR_040090.1		Q5ST44	Q5ST44_HUMAN			0	479	+									RNA	DEL	ENST00000594256.1	37																																																																																						0.493	AL645922.1-201	NOVEL	basic|appris_principal	protein_coding	protein_coding				9	134						9	134	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	194_196	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		8	228						8	228	---	---	---	---
KIAA0408	9729	broad.mit.edu	37	6	127767596	127767596	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:127767596delC	ENST00000483725.3	-	5	2204	c.1868delG	c.(1867-1869)ggafs	p.G623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623										endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACTTCCTGTCCCCCCCACAC	0.398																																						ENST00000483725.3																			0				endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28						c.(1867-1869)gafs		KIAA0408							236.0	227.0	230.0					6																	127767596		2203	4300	6503	SO:0001589	frameshift_variant	9729						protein binding	g.chr6:127767596delC	AB007868	CCDS34531.1	6q22.33	2012-11-29			ENSG00000189367	ENSG00000189367			21636	protein-coding gene	gene with protein product							Standard	NM_014702		Approved		uc011ebs.2	Q6ZU52	OTTHUMG00000166439	ENST00000483725.3:c.1868delG	6.37:g.127767596delC	ENSP00000435150:p.Gly623fs					SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	p.G623fs	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN		GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)	5	2204	-			623					B3KRE5|E1P573|O43158|Q5TF20|Q7L2M2	Frame_Shift_Del	DEL	ENST00000483725.3	37	c.1868delG	CCDS34531.1																																																																																				0.398	KIAA0408-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042145.3	NM_014702		7	1421						7	1421	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000525193.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2233-2238)agt>ag		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191073_131191075delCTG	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del					EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del	p.SS745del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2416_2418	-	Breast(56;0.0639)		745					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.2235_2237delCAG	CCDS5141.1																																																																																				0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			9	479						9	479	---	---	---	---
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						ENST00000361719.2																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(3052-3054)del		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del	p.Q1022del	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.660	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		7	935						7	935	---	---	---	---
HOXA11	3207	broad.mit.edu	37	7	27222461	27222462	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:27222461_27222462insT	ENST00000006015.3	-	2	966_967	c.895_896insA	c.(895-897)attfs	p.I299fs	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520395.1_RNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|RP1-170O19.20_ENST00000470747.4_5'Flank|HOXA10_ENST00000396344.4_5'Flank	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	299					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|developmental growth (GO:0048589)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal joint morphogenesis (GO:0060272)|male gonad development (GO:0008584)|mesodermal cell fate specification (GO:0007501)|metanephros development (GO:0001656)|multicellular organismal development (GO:0007275)|organ induction (GO:0001759)|positive regulation of cell development (GO:0010720)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal system development (GO:0001501)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|uterus development (GO:0060065)	nucleus (GO:0005634)|protein complex (GO:0043234)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCTCTGTTAATTTTTTTTTCC	0.446			T	NUP98	CML																																	ENST00000006015.3				Dom	yes		7	7p15-p14.2	3207	T	homeo box A11			L	NUP98		CML		0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						c.(895-897)taafs		homeobox A11																																				SO:0001589	frameshift_variant	3207				branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27222461_27222462insT		CCDS5411.1	7p15.2	2014-09-17	2005-12-22		ENSG00000005073	ENSG00000005073		"""Homeoboxes / ANTP class : HOXL subclass"""	5101	protein-coding gene	gene with protein product		142958	"""homeo box A11"""	HOX1I, HOX1		1973146, 1358459	Standard	NM_005523		Approved		uc003syx.3	P31270	OTTHUMG00000023437	ENST00000006015.3:c.896dupA	7.37:g.27222470_27222470dupT	ENSP00000006015:p.Ile299fs						p.*299fs	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN			2	966_967	-			299					A4D190	Frame_Shift_Ins	INS	ENST00000006015.3	37	c.895_896insA	CCDS5411.1																																																																																				0.446	HOXA11-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000358754.1			11	550						11	550	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		7	448						7	448	---	---	---	---
GTF2IRD2P1	401375	broad.mit.edu	37	7	72667747	72667747	+	RNA	DEL	T	T	-	rs368317388		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:72667747delT	ENST00000425256.1	-	0	633									GTF2I repeat domain containing 2 pseudogene 1																		tttttttttcttttttttttt	0.388																																						ENST00000425256.1																			0																																																			0							g.chr7:72667747delT	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72667747delT								NR_002164.1						0	633	-									RNA	DEL	ENST00000425256.1	37																																																																																						0.388	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		8	99						8	99	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_ENST00000395156.3_In_Frame_Del_p.D19del|STX1A_ENST00000395155.3_In_Frame_Del_p.D19del|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395154.3_In_Frame_Del_p.D19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123425_73123427delCAT		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del					STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		10	688						10	688	---	---	---	---
TMEM60	85025	broad.mit.edu	37	7	77423460	77423460	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:77423460delT	ENST00000257663.3	-	2	607	c.231delA	c.(229-231)aaafs	p.K77fs		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	77						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)	4						GGTACCAGGCTTTTTTTTTAA	0.408																																						ENST00000257663.3																			0				endometrium(1)|large_intestine(1)|lung(2)	4						c.(229-231)aafs		transmembrane protein 60							142.0	141.0	141.0					7																	77423460		2203	4300	6503	SO:0001589	frameshift_variant	85025					integral to membrane		g.chr7:77423460delT	AF260336	CCDS5593.1	7q11.23	2005-07-25	2005-07-25	2005-07-25	ENSG00000135211	ENSG00000135211			21754	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 35"""	C7orf35			Standard	NM_032936		Approved	DC32	uc003ugn.3	Q9H2L4	OTTHUMG00000130689	ENST00000257663.3:c.231delA	7.37:g.77423460delT	ENSP00000257663:p.Lys77fs						p.K77fs	NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN			2	607	-			77					A4D1C3|Q86UM0	Frame_Shift_Del	DEL	ENST00000257663.3	37	c.231delA	CCDS5593.1																																																																																				0.408	TMEM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253185.2	NM_032936		16	573						16	573	---	---	---	---
CYP51A1	1595	broad.mit.edu	37	7	91752494	91752494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:91752494delT	ENST00000003100.8	-	7	1191	c.1026delA	c.(1024-1026)aaafs	p.K342fs	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	336					cholesterol biosynthetic process (GO:0006695)|cholesterol biosynthetic process via 24,25-dihydrolanosterol (GO:0033488)|demethylation (GO:0070988)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|sterol 14-demethylase activity (GO:0008398)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Itraconazole(DB01167)|Ketoconazole(DB01026)|Sertaconazole(DB01153)|Tioconazole(DB01007)	CTAAATAACATTTTTTTTGAA	0.398																																					GBM(70;1100 1190 11592 25836 51397)	ENST00000003100.8																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10						c.(1024-1026)aafs		cytochrome P450, family 51, subfamily A, polypeptide 1	Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)						119.0	123.0	121.0					7																	91752494		2203	4300	6503	SO:0001589	frameshift_variant	1595				cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity	g.chr7:91752494delT	U51685	CCDS5623.1, CCDS55123.1	7q21.2	2012-10-10	2003-02-14	2003-02-28	ENSG00000001630	ENSG00000001630		"""Cytochrome P450s"""	2649	protein-coding gene	gene with protein product		601637	"""cytochrome P450, 51 (lanosterol 14-alpha-demethylase)"""	CYP51		8975714	Standard	NM_000786		Approved	CP51, CYPL1, P450L1, LDM, P450-14DM	uc003ulm.4	Q16850	OTTHUMG00000131131	ENST00000003100.8:c.1026delA	7.37:g.91752494delT	ENSP00000003100:p.Lys342fs					LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Frame_Shift_Del_p.K237fs	p.K342fs	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		7	1191	-	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		336					A4D1F8|B2RAI4|B4DJ55|O00770|O00772|Q16784|Q8N1A8|Q99868	Frame_Shift_Del	DEL	ENST00000003100.8	37	c.1026delA	CCDS5623.1																																																																																				0.398	CYP51A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253812.4			9	725						9	725	---	---	---	---
PEX1	5189	broad.mit.edu	37	7	92146721	92146721	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:92146721delT	ENST00000248633.4	-	5	1203	c.1108delA	c.(1108-1110)attfs	p.I370fs	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	370					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TCTGACCTAATTTTTTTTTGA	0.353																																						ENST00000248633.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1108-1110)ttfs		peroxisomal biogenesis factor 1							125.0	126.0	126.0					7																	92146721		2203	4300	6503	SO:0001589	frameshift_variant	5189				microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	g.chr7:92146721delT	AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.1108delA	7.37:g.92146721delT	ENSP00000248633:p.Ile370fs					PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000438045.1_Intron|PEX1_ENST00000428214.1_Frame_Shift_Del_p.I370fs	p.I370fs	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)		5	1203	-	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	370					A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Frame_Shift_Del	DEL	ENST00000248633.4	37	c.1108delA	CCDS5627.1																																																																																				0.353	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254066.3	NM_000466		12	514						12	514	---	---	---	---
SAMD9L	219285	broad.mit.edu	37	7	92761061	92761061	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:92761061delT	ENST00000318238.4	-	5	5440	c.4224delA	c.(4222-4224)aaafs	p.K1408fs	SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1408					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCGGAGTTGTTTTTTTAGCG	0.408																																						ENST00000318238.4																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88						c.(4222-4224)aafs		sterile alpha motif domain containing 9-like				3,4257		1,1,2128	157.0	157.0	157.0			3.3	1.0	7		156	0,8254		0,0,4127	no	frameshift	SAMD9L	NM_152703.2		1,1,6255	A1A1,A1R,RR		0.0,0.0704,0.024			92761061	3,12511	2203	4300	6503	SO:0001589	frameshift_variant	219285							g.chr7:92761061delT	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.4224delA	7.37:g.92761061delT	ENSP00000326247:p.Lys1408fs					SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.K1408fs|SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.K1408fs	p.K1408fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	5440	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		1408					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Frame_Shift_Del	DEL	ENST00000318238.4	37	c.4224delA	CCDS34681.1																																																																																				0.408	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		8	1166						8	1166	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100369720	100369721	+	RNA	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:100369720_100369721insT	ENST00000348028.3	+	0	5590				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369720_100369721insT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369731_100369731dupT						ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	INS	ENST00000348028.3	37																																																																																						0.535	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		9	30						9	30	---	---	---	---
WDR60	55112	broad.mit.edu	37	7	158704353	158704353	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr7:158704353delA	ENST00000407559.3	+	12	1731	c.1573delA	c.(1573-1575)aaafs	p.K526fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	526					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AAACTTTGGGAAAAAAAATAC	0.328																																						ENST00000407559.3																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35						c.(1573-1575)aafs		WD repeat domain 60																																				SO:0001589	frameshift_variant	55112							g.chr7:158704353delA		CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.1573delA	7.37:g.158704353delA	ENSP00000384290:p.Lys526fs						p.K526fs	NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)	12	1731	+	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	526					Q9NW58	Frame_Shift_Del	DEL	ENST00000407559.3	37	c.1573delA	CCDS47757.1																																																																																				0.328	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322668.1	NM_018051		7	361						7	361	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	361						8	361	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124384892	124384893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:124384892_124384893insT	ENST00000287394.5	-	3	461_462	c.354_355insA	c.(352-357)aaagaafs	p.E119fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	119					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.E119fs*8(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGTGCTCTTCTTTTTTTTTAT	0.267																																						ENST00000287394.5																			1	Deletion - Frameshift(1)	p.E119fs*8(1)	large_intestine(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(352-357)aaaagafs		ATPase family, AAA domain containing 2																																				SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124384892_124384893insT	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.355dupA	8.37:g.124384901_124384901dupT	ENSP00000287394:p.Glu119fs					ATAD2_ENST00000521903.1_5'UTR	p.R119fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	461_462	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		119					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Ins	INS	ENST00000287394.5	37	c.354_355insA	CCDS6343.1																																																																																				0.267	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		9	566						9	566	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143993951	143993953	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr8:143993951_143993953delGCA	ENST00000323110.2	-	8	1393_1395	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	464					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	CTTACGTGGTGCAGCAGCAGCAG	0.685									Familial Hyperaldosteronism type I																													ENST00000323110.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 2	Candesartan(DB00796)|Metyrapone(DB01011)																																			SO:0001651	inframe_deletion	1585	Familial Hyperaldosteronism type I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143993951_143993953delGCA	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1391_1393delTGC	8.37:g.143993960_143993962delGCA	ENSP00000325822:p.Leu464del						p.LH464del	NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN			8	1393_1395	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		464					B0ZBE4|Q16726	In_Frame_Del	DEL	ENST00000323110.2	37	c.1391_1393delTGC	CCDS6393.1																																																																																				0.685	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			7	401						7	401	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		8	452						8	452	---	---	---	---
MLLT3	4300	broad.mit.edu	37	9	20413952	20413952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:20413952delT	ENST00000380338.4	-	5	1178	c.892delA	c.(892-894)aggfs	p.R298fs	MLLT3_ENST00000475957.1_5'UTR|MIR4473_ENST00000583731.1_RNA|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	298					anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		CTCTTTTTCCTTTTTTTGGCT	0.393			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(892-894)ggfs		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							144.0	150.0	148.0					9																	20413952		2203	4300	6503	SO:0001589	frameshift_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20413952delT	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.892delA	9.37:g.20413952delT	ENSP00000369695:p.Arg298fs					MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|MLLT3_ENST00000475957.1_5'UTR	p.R298fs	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	1178	-			298					B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Frame_Shift_Del	DEL	ENST00000380338.4	37	c.892delA	CCDS6494.1																																																																																				0.393	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		8	823						8	823	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32633584	32633584	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:32633584delT	ENST00000242310.4	-	1	2083	c.1994delA	c.(1993-1995)aagfs	p.K665fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	665					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.K665fs*4(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATCTTGGCCTTTTTTTTGAT	0.478																																						ENST00000242310.4																			2	Deletion - Frameshift(2)	p.K665fs*4(2)	large_intestine(2)	breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159						c.(1993-1995)agfs		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like							151.0	142.0	145.0					9																	32633584		2203	4300	6503	SO:0001589	frameshift_variant	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32633584delT	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1994delA	9.37:g.32633584delT	ENSP00000418379:p.Lys665fs					RP11-555J4.4_ENST00000430787.1_RNA	p.K665fs	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	2083	-			665					Q0VG57	Frame_Shift_Del	DEL	ENST00000242310.4	37	c.1994delA	CCDS35003.1																																																																																				0.478	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			9	572						9	572	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35560102	35560104	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:35560102_35560104delGCT	ENST00000455600.1	+	10	4034_4036	c.3465_3467delGCT	c.(3463-3468)gagctg>gag	p.L1160del	FAM166B_ENST00000492890.1_5'Flank	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1160	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTGAAGAGCTGCTGCTGCTG	0.616																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3463-3468)gag>ga		RUN and SH3 domain containing 2																																				SO:0001651	inframe_deletion	9853					cytosol		g.chr9:35560102_35560104delGCT	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.3465_3467delGCT	9.37:g.35560111_35560113delGCT	ENSP00000393922:p.Leu1160del						p.EL1155del	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		10	4034_4036	+			1155			RUN.		A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	In_Frame_Del	DEL	ENST00000455600.1	37	c.3465_3467delGCT	CCDS35008.1																																																																																				0.616	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		8	834						8	834	---	---	---	---
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs369721488|rs150805048		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:37424907_37424908insG	ENST00000318158.6	+	2	234_235	c.149_150insG	c.(148-153)gcggggfs	p.AG50fs	GRHPR_ENST00000607784.1_Frame_Shift_Ins_p.AG50fs|GRHPR_ENST00000493368.1_3'UTR	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658																																						ENST00000607784.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(148-150)gggfs		glyoxylate reductase/hydroxypyruvate reductase				127,75,4062		0,0,127,0,75,1930						1.0	0.0			47	270,115,7869		0,0,270,0,115,3742	no	codingComplex	GRHPR	NM_012203.1		0,0,397,0,190,5672	A1A1,A1A2,A1R,A2A2,A2R,RR		4.6644,4.7373,4.6892				397,190,11931				SO:0001589	frameshift_variant	9380				cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding	g.chr9:37424907_37424908insG	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.154dupG	9.37:g.37424912_37424912dupG	ENSP00000313432:p.Ala50fs					GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs	p.G50fs			Q9UBQ7	GRHPR_HUMAN		GBM - Glioblastoma multiforme(29;0.00687)	2	154_155	+			50					Q5T945|Q9H3E9|Q9H636|Q9UKX1	Frame_Shift_Ins	INS	ENST00000318158.6	37	c.149_150insG	CCDS6609.1																																																																																				0.658	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052442.1	NM_012203		8	448						8	448	---	---	---	---
NFIL3	4783	broad.mit.edu	37	9	94172779	94172779	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:94172779delT	ENST00000297689.3	-	2	632	c.238delA	c.(238-240)aggfs	p.R81fs		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	81	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to interleukin-4 (GO:0071353)|circadian rhythm (GO:0007623)|immune response (GO:0006955)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TTTTTCCGCCTTTTTTCCCAA	0.423																																					Esophageal Squamous(152;732 1832 10053 26981 51762)	ENST00000297689.3																			0				endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						c.(238-240)ggfs		nuclear factor, interleukin 3 regulated							214.0	216.0	215.0					9																	94172779		2203	4300	6503	SO:0001589	frameshift_variant	4783				circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr9:94172779delT	X64318	CCDS6690.1	9q22	2013-01-10			ENSG00000165030	ENSG00000165030		"""basic leucine zipper proteins"""	7787	protein-coding gene	gene with protein product		605327		IL3BP1		7565758, 1620116	Standard	NM_005384		Approved	E4BP4, NFIL3A, NF-IL3A	uc004arh.3	Q16649	OTTHUMG00000020209	ENST00000297689.3:c.238delA	9.37:g.94172779delT	ENSP00000297689:p.Arg81fs						p.R81fs	NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN			2	632	-			81					B2R9Y8|Q14211|Q6FGQ8|Q96HS0	Frame_Shift_Del	DEL	ENST00000297689.3	37	c.238delA	CCDS6690.1																																																																																				0.423	NFIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053038.2	NM_005384		7	1123						7	1123	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		10	284						10	284	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)ttfs		Fas cell surface death receptor							338.0	365.0	356.0					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			7	2335						7	2335	---	---	---	---
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)agtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363																																						ENST00000371142.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15						c.(214-216)gtfs		transmembrane 9 superfamily member 3							146.0	145.0	145.0					10																	98336475		2203	4300	6503	SO:0001589	frameshift_variant	56889					integral to membrane	binding	g.chr10:98336475delT	AF160213, AF269150	CCDS7450.1	10q24.2	2006-04-12			ENSG00000077147	ENSG00000077147			21529	protein-coding gene	gene with protein product						11530251, 11595169	Standard	NM_020123		Approved	SMBP	uc001kmm.4	Q9HD45	OTTHUMG00000018834	ENST00000371142.4:c.214delA	10.37:g.98336475delT	ENSP00000360184:p.Ser72fs						p.S72fs	NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)	2	430	-		Colorectal(252;0.158)	72					Q5TB57|Q6UWE7|Q9NWL8|Q9P0G9|Q9UHW8	Frame_Shift_Del	DEL	ENST00000371142.4	37	c.214delA	CCDS7450.1																																																																																				0.363	TM9SF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049610.2	NM_020123		11	646						11	646	---	---	---	---
SLK	9748	broad.mit.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	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		7	545						7	545	---	---	---	---
AP2A2	161	broad.mit.edu	37	11	970195	970195	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:970195delA	ENST00000448903.2	+	3	304	c.163delA	c.(163-165)aaafs	p.K57fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	57	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)	p.K57fs*24(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGGCTATAGTAAAAAAAAGTA	0.488																																						ENST00000448903.2																			1	Deletion - Frameshift(1)	p.K57fs*24(1)	large_intestine(1)	breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(163-165)aafs		adaptor-related protein complex 2, alpha 2 subunit							132.0	134.0	134.0					11																	970195		1937	4154	6091	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:970195delA	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.163delA	11.37:g.970195delA	ENSP00000413234:p.Lys57fs					AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K57fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K57fs	p.K57fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	3	304	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	57			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.163delA	CCDS44512.1																																																																																				0.488	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305		9	690						9	690	---	---	---	---
HNRNPKP3	399881	broad.mit.edu	37	11	43283605	43283606	+	RNA	INS	-	-	A	rs377012965|rs201499316		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:43283605_43283606insA	ENST00000511537.1	-	0	1329_1330					NR_033868.1				heterogeneous nuclear ribonucleoprotein K pseudogene 3																		GAAGCAAATGTAAAAAAAAAAA	0.386																																						ENST00000511537.1																			0																																																			0							g.chr11:43283605_43283606insA			11p12	2011-07-05				ENSG00000251557			42376	pseudogene	pseudogene							Standard	NR_033868		Approved		uc001mxe.2				11.37:g.43283616_43283616dupA								NR_033868.1						0	1329_1330	-									RNA	INS	ENST00000511537.1	37																																																																																						0.386	HNRNPKP3-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390385.1	NR_033868		7	11						7	11	---	---	---	---
FTH1	2495	broad.mit.edu	37	11	61732517	61732517	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:61732517delT	ENST00000273550.7	-	3	563	c.329delA	c.(328-330)aatfs	p.N110fs	FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|AP003733.1_ENST00000601917.1_5'Flank|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	110	Ferritin-like diiron. {ECO:0000255|PROSITE-ProRule:PRU00085}.				cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|intracellular sequestering of iron ion (GO:0006880)|iron ion transport (GO:0006826)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|post-Golgi vesicle-mediated transport (GO:0006892)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular ferritin complex (GO:0008043)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)|iron ion binding (GO:0005506)			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTGATTCACATTTTTTTCCAA	0.423																																						ENST00000273550.7																			0				NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(328-330)atfs		ferritin, heavy polypeptide 1	Iron Dextran(DB00893)						193.0	185.0	188.0					11																	61732517		1894	4106	6000	SO:0001589	frameshift_variant	2495				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	g.chr11:61732517delT		CCDS41655.1	11q13	2012-10-02			ENSG00000167996	ENSG00000167996			3976	protein-coding gene	gene with protein product	"""apoferritin"", ""placenta immunoregulatory factor"", ""proliferation-inducing protein 15"""	134770		FTHL6		3020541	Standard	NM_002032		Approved	FTH, PLIF, PIG15, FHC	uc001nsu.3	P02794		ENST00000273550.7:c.329delA	11.37:g.61732517delT	ENSP00000273550:p.Asn110fs					BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000532601.1_Frame_Shift_Del_p.N40fs|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Frame_Shift_Del_p.N80fs	p.N110fs	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN			3	563	-			110			Ferritin-like diiron.		B3KNR5|Q3KRA8|Q3SWW1	Frame_Shift_Del	DEL	ENST00000273550.7	37	c.329delA	CCDS41655.1																																																																																				0.423	FTH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388444.1	NM_002032		8	1193						8	1193	---	---	---	---
RARRES3	5920	broad.mit.edu	37	11	63313708	63313709	+	Frame_Shift_Ins	INS	-	-	A	rs547099153|rs74932327		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:63313708_63313709insA	ENST00000255688.3	+	4	523_524	c.475_476insA	c.(475-477)caafs	p.Q159fs	RARRES3_ENST00000537871.1_3'UTR|RARRES3_ENST00000354445.2_Frame_Shift_Ins_p.Q159fs	NM_004585.3	NP_004576.2	Q9UL19	HRSL4_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	159					lipid catabolic process (GO:0016042)|negative regulation of cell proliferation (GO:0008285)|phospholipid metabolic process (GO:0006644)	integral component of membrane (GO:0016021)	phospholipase A2 activity (GO:0004623)			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						TAGGAGATACCAAAAAAAAGCG	0.54																																						ENST00000255688.3																			0				kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						c.(475-477)aaafs		retinoic acid receptor responder (tazarotene induced) 3																																				SO:0001589	frameshift_variant	5920				lipid catabolic process|negative regulation of cell proliferation		hydrolase activity	g.chr11:63313708_63313709insA		CCDS41662.1	11q23	2008-05-02			ENSG00000133321	ENSG00000133321			9869	protein-coding gene	gene with protein product		605092				9270552	Standard	NM_004585		Approved	TIG3, HRASLS4	uc001nxf.4	Q9UL19	OTTHUMG00000167850	ENST00000255688.3:c.483dupA	11.37:g.63313716_63313716dupA	ENSP00000255688:p.Gln159fs					RARRES3_ENST00000354445.2_Frame_Shift_Ins_p.K159fs|RARRES3_ENST00000537871.1_3'UTR	p.K159fs	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN			4	523_524	+			159					B2R599|B4DDW2|E7ENZ7|O95200	Frame_Shift_Ins	INS	ENST00000255688.3	37	c.475_476insA	CCDS41662.1																																																																																				0.540	RARRES3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396629.1			7	820						7	820	---	---	---	---
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)gaafs	p.E223fs	CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.E223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.E239fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.E223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Interaction with CLSPN. {ECO:0000250}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		E -> V (in dbSNP:rs35817404). {ECO:0000269|PubMed:17344846}.		cellular response to caffeine (GO:0071313)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to mechanical stimulus (GO:0071260)|chromatin-mediated maintenance of transcription (GO:0048096)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of mitosis (GO:0045839)|peptidyl-threonine phosphorylation (GO:0018107)|regulation of cell proliferation (GO:0042127)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of histone H3-K9 acetylation (GO:2000615)|regulation of mitotic centrosome separation (GO:0046602)|regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage (GO:0010767)|replicative senescence (GO:0090399)	centrosome (GO:0005813)|chromatin (GO:0000785)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	ATP binding (GO:0005524)|histone kinase activity (H3-T11 specific) (GO:0035402)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes																														ENST00000534070.1																			0				central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26						c.(667-669)aaafs	Other conserved DNA damage response genes	checkpoint kinase 1																																				SO:0001589	frameshift_variant	1111				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr11:125505377_125505378insA	AF016582, BC017575	CCDS8459.1, CCDS58191.1	11q24.2	2011-11-11	2011-11-11		ENSG00000149554	ENSG00000149554			1925	protein-coding gene	gene with protein product		603078	"""CHK1 (checkpoint, S.pombe) homolog"", ""CHK1 checkpoint homolog (S. pombe)"""			9278511, 9382850	Standard	NM_001114121		Approved	CHK1	uc001qcg.4	O14757	OTTHUMG00000165853	ENST00000534070.1:c.676dupA	11.37:g.125505386_125505386dupA	ENSP00000435371:p.Glu223fs					CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs	p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)	7	922_923	+	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	223		E -> V (in dbSNP:rs35817404).	Protein kinase.		A8K934|B4DDD0|B4DSK3|B5BTY6|F5H7S4|H2BI51	Frame_Shift_Ins	INS	ENST00000534070.1	37	c.667_668insA	CCDS8459.1																																																																																				0.361	CHEK1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386714.1	NM_001274		21	620						21	620	---	---	---	---
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-	rs185386009		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr12:103695960delG	ENST00000378113.2	-	6	1234	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000548048.1_Frame_Shift_Del_p.R270fs	NM_001099336.1	NP_001092806.1	Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587																																						ENST00000548048.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						c.(808-810)gcfs		chromosome 12 open reading frame 42			,	13,3511		2,9,1751	48.0	56.0	54.0		,	0.8	0.2	12		55	19,7773		0,19,3877	no	frameshift,frameshift	C12orf42	NM_198521.2,NM_001099336.1	,	2,28,5628	A1A1,A1R,RR		0.2438,0.3689,0.2828	,	,	103695960	32,11284	1843	4081	5924	SO:0001589	frameshift_variant	374470							g.chr12:103695960delG	AK058052	CCDS44963.1	12q23.2	2012-05-30			ENSG00000179088	ENSG00000179088			24729	protein-coding gene	gene with protein product							Standard	NM_001099336		Approved	FLJ25323	uc001tjt.2	Q96LP6	OTTHUMG00000169988	ENST00000378113.2:c.1009delC	12.37:g.103695960delG	ENSP00000367353:p.Arg337fs					C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Frame_Shift_Del_p.R337fs|C12orf42_ENST00000548883.1_Frame_Shift_Del_p.R337fs	p.R270fs			Q96LP6	CL042_HUMAN			9	1304	-			337					Q49A64|Q4G0S2	Frame_Shift_Del	DEL	ENST00000378113.2	37	c.808delC	CCDS44963.1																																																																																				0.587	C12orf42-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406754.1	NM_198521		9	698						9	698	---	---	---	---
TPTE2P2	644623	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr13:52796688delC	ENST00000451298.1	-	0	1229				TPTE2P2_ENST00000606973.1_RNA																							cgctattgctccccacccatc	0.537																																						ENST00000451298.1																			0																																																			0							g.chr13:52796688delC																													13.37:g.52796688delC						RP11-64P12.8_ENST00000606031.1_RNA								0	1229	-									RNA	DEL	ENST00000451298.1	37																																																																																						0.537	RP11-248G5.8-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000471093.1			13	69						13	69	---	---	---	---
TEP1	7011	broad.mit.edu	37	14	20852647	20852647	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:20852647delC	ENST00000262715.5	-	23	3282	c.3242delG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTGCCACACCCCCCCACTC	0.587																																						ENST00000262715.5																			1	Insertion - Frameshift(1)	p.V1082fs*47(1)	large_intestine(1)	NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(3241-3243)gtfs		telomerase-associated protein 1							108.0	128.0	121.0					14																	20852647		2203	4300	6503	SO:0001589	frameshift_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20852647delC		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3242delG	14.37:g.20852647delC	ENSP00000262715:p.Gly1081fs					TEP1_ENST00000556935.1_Frame_Shift_Del_p.G973fs	p.G1081fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	23	3282	-	all_cancers(95;0.00123)	all_lung(585;0.235)	1081					A0AUV9	Frame_Shift_Del	DEL	ENST00000262715.5	37	c.3242delG	CCDS9548.1																																																																																				0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		7	1358						7	1358	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000382809.2_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000342473.4_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs|CMTM5_ENST00000359320.3_5'Flank	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			13	704						13	704	---	---	---	---
G2E3	55632	broad.mit.edu	37	14	31074771	31074772	+	Frame_Shift_Ins	INS	-	-	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:31074771_31074772insA	ENST00000206595.6	+	11	1225_1226	c.1071_1072insA	c.(1072-1074)aaafs	p.K358fs	G2E3_ENST00000438909.2_Frame_Shift_Ins_p.K312fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.K388fs|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GATTCCAAATTAAAAAAAAAAC	0.272																																						ENST00000206595.6																			0				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1069-1074)ataaaafs		G2/M-phase specific E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	55632				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding	g.chr14:31074771_31074772insA	AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1081dupA	14.37:g.31074781_31074781dupA	ENSP00000206595:p.Lys358fs					G2E3_ENST00000438909.2_Frame_Shift_Ins_p.IK311fs|G2E3_ENST00000553504.1_Frame_Shift_Ins_p.IK387fs|G2E3_ENST00000544007.1_Intron	p.IK357fs	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN			11	1225_1226	+			357					Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Frame_Shift_Ins	INS	ENST00000206595.6	37	c.1071_1072insA	CCDS9638.1																																																																																				0.272	G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769		10	123						10	123	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36194270	36194270	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:36194270delT	ENST00000389698.3	-	14	2216	c.1826delA	c.(1825-1827)aatfs	p.N609fs	RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	609					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAAGGTCATATTTTTTTTCCC	0.378																																						ENST00000258840.6																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(1825-1827)atfs		Ral GTPase activating protein, alpha subunit 1 (catalytic)							56.0	58.0	58.0					14																	36194270		2203	4300	6503	SO:0001589	frameshift_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36194270delT	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.1826delA	14.37:g.36194270delT	ENSP00000374348:p.Asn609fs					RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000389698.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Del_p.N609fs|RALGAPA1_ENST00000307138.6_Frame_Shift_Del_p.N609fs	p.N609fs			Q6GYQ0	RGPA1_HUMAN			14	2216	-			609					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Del	DEL	ENST00000389698.3	37	c.1826delA	CCDS32065.1																																																																																				0.378	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		7	276						7	276	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		9	65						9	65	---	---	---	---
GOLGA8DP	100132979	broad.mit.edu	37	15	22709778	22709779	+	RNA	DEL	TC	TC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:22709778_22709779delTC	ENST00000314246.8	-	0	1069				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CATGCTACCATCTCTCTCTCTG	0.535																																						ENST00000314246.8																			0																																																			0							g.chr15:22709778_22709779delTC			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709786_22709787delTC														0	1069	-									RNA	DEL	ENST00000314246.8	37																																																																																						0.535	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	400						7	400	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNORD115-22_ENST00000364456.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNORD115-23_ENST00000364461.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTGTGGGCAGGGGGGGTGCC	0.557																																						ENST00000424208.1																			0																				213.0	225.0	221.0					15																	25456925		876	1991	2867			0							g.chr15:25456925delG			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25456925delG						SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA		NR_003305.1						0	2516	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.557	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			8	921						8	921	---	---	---	---
OCA2	4948	broad.mit.edu	37	15	28200305	28200305	+	Splice_Site	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:28200305delT	ENST00000354638.3	-	17	1996	c.1841delA	c.(1840-1842)aag>ag	p.K614fs	OCA2_ENST00000382996.2_Splice_Site_p.K614fs|OCA2_ENST00000353809.5_Splice_Site_p.K590fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	614			K -> E (in OCA2). {ECO:0000269|PubMed:10987646}.|K -> N (in OCA2).		cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTGGGTACCTTTTTTTGGAG	0.443									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85	GRCh37	CD000269	OCA2	D		c.e17+1		oculocutaneous albinism II							224.0	217.0	219.0					15																	28200305		2203	4300	6503	SO:0001630	splice_region_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28200305delT		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.1842+1A>-	15.37:g.28200305delT						OCA2_ENST00000353809.5_Splice_Site_p.K590_splice|OCA2_ENST00000382996.2_Splice_Site_p.K614_splice	p.K614_splice	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	17	1996	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	614		K -> E (in OCA2).|K -> N (in OCA2).			Q15211|Q15212|Q96EN1|Q9UMI5	Splice_Site	DEL	ENST00000354638.3	37	c.1842_splice	CCDS10020.1																																																																																				0.443	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275	Frame_Shift_Del	8	756						8	756	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14-AS1_ENST00000504245.1_lincRNA	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		9	313						9	313	---	---	---	---
RMDN3	55177	broad.mit.edu	37	15	41029893	41029894	+	Frame_Shift_Ins	INS	-	-	T			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:41029893_41029894insT	ENST00000260385.6	-	9	2223_2224	c.1156_1157insA	c.(1156-1158)actfs	p.T386fs	RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.T386fs|RMDN3_ENST00000558560.1_5'UTR			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	386					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											GGCTGTAGCAGTTTTTTTTTCT	0.45																																						ENST00000260385.6																			0											c.(1156-1158)tgcfs		regulator of microtubule dynamics 3																																				SO:0001589	frameshift_variant	55177							g.chr15:41029893_41029894insT	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.1157dupA	15.37:g.41029902_41029902dupT	ENSP00000260385:p.Thr386fs					RMDN3_ENST00000558560.1_5'UTR|RMDN3_ENST00000338376.3_Frame_Shift_Ins_p.C386fs	p.C386fs							9	2223_2224	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Frame_Shift_Ins	INS	ENST00000260385.6	37	c.1156_1157insA	CCDS10063.1																																																																																				0.450	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		7	419						7	419	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-	rs370141395		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		10	906						10	906	---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gccagc>gcc	p.S537del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	538	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.64																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1591-1596)gcc>gc		AT rich interactive domain 3B (BRIGHT-like)																																				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888025_74888027delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1593_1595delCAG	15.37:g.74888034_74888036delCAG	ENSP00000343126:p.Ser537del						p.AS531del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1824_1826	+			532			Ser-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.1593_1595delCAG	CCDS10264.1																																																																																				0.640	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		7	230						7	230	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G	rs199996275	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933									DNM1 pseudogene 47																		AACCTGTACTCGCGTCGGAACC	0.589													|||unknown(NO_COVERAGE)	758	0.151358	0.2511	0.1167	5008	,	,		74102	0.0595		0.163	False		,,,				2504	0.1237					ENST00000561463.1																			0																																																			0							g.chr15:102299886_102299887insG	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299887_102299887dupG														0	7932_7933	+									RNA	INS	ENST00000561463.1	37																																																																																						0.589	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	47						7	47	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		9	809						9	809	---	---	---	---
ZNF629	23361	broad.mit.edu	37	16	30793261	30793261	+	Frame_Shift_Del	DEL	G	G	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:30793261delG	ENST00000262525.4	-	3	2595	c.2388delC	c.(2386-2388)cccfs	p.P796fs	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCTCGGGATTGGGGGGTTTTT	0.652																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(2386-2388)ccfs		zinc finger protein 629							80.0	94.0	90.0					16																	30793261		1905	4111	6016	SO:0001589	frameshift_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30793261delG	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2388delC	16.37:g.30793261delG	ENSP00000262525:p.Pro796fs						p.P796fs	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	2595	-			796					Q15938	Frame_Shift_Del	DEL	ENST00000262525.4	37	c.2388delC	CCDS45463.1																																																																																				0.652	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		7	1209						7	1209	---	---	---	---
ZFP90	146198	broad.mit.edu	37	16	68598462	68598463	+	Frame_Shift_Ins	INS	-	-	A	rs543784734		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:68598462_68598463insA	ENST00000570495.1	+	5	2064_2065	c.1772_1773insA	c.(1771-1776)cgaaaafs	p.RK591fs	ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.RK591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.RK591fs			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	591					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AGAGCCTTCCGAAAAAAAACCA	0.411																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(1771-1773)caafs		ZFP90 zinc finger protein																																				SO:0001589	frameshift_variant	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68598462_68598463insA	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.1780dupA	16.37:g.68598470_68598470dupA	ENSP00000460547:p.Arg591fs					ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs|RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs	p.Q591fs			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	2064_2065	+		Ovarian(137;0.192)	591					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Frame_Shift_Ins	INS	ENST00000570495.1	37	c.1772_1773insA	CCDS42183.1																																																																																				0.411	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		8	946						8	946	---	---	---	---
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		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.V777V(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		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5																			1	Substitution - coding silent(1)	p.V777V(1)	lung(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.(2329-2334)gct>g		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	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.chr16:72991713_72991715delCCA	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.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del					ZFHX3_ENST00000397992.5_Intron	p.VA777del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		14	413						14	413	---	---	---	---
C16orf46	123775	broad.mit.edu	37	16	81095470	81095470	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr16:81095470delT	ENST00000299578.5	-	4	719	c.484delA	c.(484-486)agtfs	p.S162fs	RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000378611.4_Frame_Shift_Del_p.S162fs	NM_152337.2	NP_689550.2	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	162						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATTTGCAGACTTTTTTTCTCT	0.572																																						ENST00000378611.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(484-486)gtfs		chromosome 16 open reading frame 46							146.0	155.0	152.0					16																	81095470		2202	4300	6502	SO:0001589	frameshift_variant	123775							g.chr16:81095470delT	BC064143	CCDS10932.1, CCDS42201.1	16q23.2	2012-10-09			ENSG00000166455	ENSG00000166455			26525	protein-coding gene	gene with protein product							Standard	NM_152337		Approved	FLJ32702	uc002fgc.4	Q6P387	OTTHUMG00000137629	ENST00000299578.5:c.484delA	16.37:g.81095470delT	ENSP00000299578:p.Ser162fs					C16orf46_ENST00000299578.5_Frame_Shift_Del_p.S162fs|RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR	p.S162fs	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN			3	599	-			162					Q96MA7	Frame_Shift_Del	DEL	ENST00000299578.5	37	c.484delA	CCDS10932.1																																																																																				0.572	C16orf46-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269054.2	NM_152337		7	1467						7	1467	---	---	---	---
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:3721809_3721811delTCC	ENST00000389005.4	-	10	1083_1085	c.1056_1058delGGA	c.(1054-1059)gaggaa>gaa	p.352_353EE>E	C17orf85_ENST00000158149.3_In_Frame_Del_p.72_73EE>E	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352	Glu-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507																																						ENST00000158149.3																			0				endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10						c.(214-219)gaa>ga		chromosome 17 open reading frame 85																																				SO:0001651	inframe_deletion	55421						nucleotide binding	g.chr17:3721809_3721811delTCC		CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.1056_1058delGGA	17.37:g.3721818_3721820delTCC	ENSP00000373657:p.Glu359del					C17orf85_ENST00000389005.4_In_Frame_Del_p.EE358del	p.EE78del			Q53F19	CQ085_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)	11	1111_1113	-			358					B3KWG7|Q7L406|Q96FK1|Q9NXZ4	In_Frame_Del	DEL	ENST00000389005.4	37	c.216_218delGGA	CCDS45578.1																																																																																				0.507	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438385.1	NM_018553		8	496						8	496	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8397095	8397097	+	In_Frame_Del	DEL	CCT	CCT	-	rs146612839		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:8397095_8397097delCCT	ENST00000269243.4	-	30	4208_4210	c.4070_4072delAGG	c.(4069-4074)gaggcc>gcc	p.E1357del	MYH10_ENST00000379980.4_In_Frame_Del_p.E1373del|MYH10_ENST00000360416.3_In_Frame_Del_p.E1388del|MYH10_ENST00000396239.1_In_Frame_Del_p.E1378del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1357					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTCTTCCTGGCCTCCTCCTCCTC	0.596																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(4162-4167)gcc>g		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8397095_8397097delCCT	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.4070_4072delAGG	17.37:g.8397104_8397106delCCT	ENSP00000269243:p.Glu1357del					MYH10_ENST00000269243.4_In_Frame_Del_p.EA1357del|MYH10_ENST00000379980.4_In_Frame_Del_p.EA1373del|MYH10_ENST00000396239.1_In_Frame_Del_p.EA1378del	p.EA1388del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			32	4301_4303	-			1357					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.4163_4165delAGG	CCDS11144.1																																																																																				0.596	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	353						8	353	---	---	---	---
AKAP1	8165	broad.mit.edu	37	17	55183460	55183460	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:55183460delA	ENST00000337714.3	+	2	868	c.635delA	c.(634-636)gaafs	p.E212fs	AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	212					blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GTGTTGGGGGAAAAGGTGCTT	0.587																																						ENST00000337714.3																			0				endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14						c.(634-636)gafs		A kinase (PRKA) anchor protein 1							92.0	91.0	91.0					17																	55183460		2203	4300	6503	SO:0001589	frameshift_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55183460delA	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.635delA	17.37:g.55183460delA	ENSP00000337736:p.Glu212fs					AKAP1_ENST00000539273.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000572557.1_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000314126.3_Frame_Shift_Del_p.E212fs|AKAP1_ENST00000571629.1_Frame_Shift_Del_p.E212fs	p.E212fs	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN			2	868	+	Breast(9;5.46e-08)		212					A8K8Q1|D3DTZ0|Q13320|Q9BW14	Frame_Shift_Del	DEL	ENST00000337714.3	37	c.635delA	CCDS11594.1																																																																																				0.587	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			7	617						7	617	---	---	---	---
AMZ2P1	201283	broad.mit.edu	37	17	62968575	62968575	+	RNA	DEL	T	T	-	rs376847634	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:62968575delT	ENST00000430983.1	-	0	1593					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		TTGGTTGGAATTTTTTTCCCT	0.333													|||unknown(NO_COVERAGE)	3	0.000599042	0.0	0.0	5008	,	,		17809	0.0		0.0	False		,,,				2504	0.0031					ENST00000430983.1																			0																																																			0							g.chr17:62968575delT	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968575delT								NR_026903.1						0	1593	-									RNA	DEL	ENST00000430983.1	37																																																																																						0.333	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		12	224						12	224	---	---	---	---
HELZ	9931	broad.mit.edu	37	17	65134199	65134199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr17:65134199delA	ENST00000358691.5	-	22	2967	c.2801delT	c.(2800-2802)ttafs	p.L934fs	HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	934						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					CTTCCTTCTTAACTCTTCTAC	0.388																																						ENST00000358691.5																			0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2800-2802)tafs		helicase with zinc finger							134.0	133.0	133.0					17																	65134199		2106	4232	6338	SO:0001589	frameshift_variant	9931							g.chr17:65134199delA	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.2801delT	17.37:g.65134199delA	ENSP00000351524:p.Leu934fs					HELZ_ENST00000580168.1_Frame_Shift_Del_p.L935fs	p.L934fs	NM_014877.3	NP_055692.2					22	2967	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)							I6L9H4	Frame_Shift_Del	DEL	ENST00000358691.5	37	c.2801delT	CCDS42374.1																																																																																				0.388	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	NM_014877		7	573						7	573	---	---	---	---
CXXC1	30827	broad.mit.edu	37	18	47812275	47812277	+	In_Frame_Del	DEL	CTG	CTG	-	rs527645784	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:47812275_47812277delCTG	ENST00000285106.6	-	5	1195_1197	c.481_483delCAG	c.(481-483)cagdel	p.Q161del	CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000587396.1_5'Flank|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	161					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|histone H3-K4 methylation (GO:0051568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						ACCGTTTGATctgctgctgctgc	0.557														27	0.00539137	0.0151	0.0	5008	,	,		19878	0.0		0.0	False		,,,				2504	0.0072					ENST00000285106.6																			0				autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						c.(481-483)del		CXXC finger protein 1																																				SO:0001651	inframe_deletion	30827				histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding	g.chr18:47812275_47812277delCTG	BC014940	CCDS11945.1, CCDS45866.1	18q12	2014-02-20	2014-02-20		ENSG00000154832	ENSG00000154832		"""Zinc fingers, PHD-type"""	24343	protein-coding gene	gene with protein product	"""CpG binding protein"", ""DNA-binding protein with PHD finger and CXXC domain"", ""zinc finger, CpG binding-type containing 1"""	609150	"""CXXC finger 1 (PHD domain)"""			10799292, 10688657	Standard	NM_014593		Approved	HsT2645, PCCX1, hCGBP, PHF18, CGBP, SPP1, CFP1, ZCGPC1	uc002ler.4	Q9P0U4	OTTHUMG00000132670	ENST00000285106.6:c.481_483delCAG	18.37:g.47812284_47812286delCTG	ENSP00000285106:p.Gln161del					CXXC1_ENST00000412036.2_In_Frame_Del_p.Q161del|CXXC1_ENST00000589940.1_In_Frame_Del_p.Q161del	p.Q161del	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN			5	1195_1197	-			161					B2RC03|Q8N2W4|Q96BC8|Q9P2V7	In_Frame_Del	DEL	ENST00000285106.6	37	c.481_483delCAG	CCDS11945.1																																																																																				0.557	CXXC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255927.2	NM_014593		9	265						9	265	---	---	---	---
ZADH2	284273	broad.mit.edu	37	18	72913980	72913980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:72913980delT	ENST00000322342.3	-	2	814	c.525delA	c.(523-525)aaafs	p.K175fs	ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	175						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		TCACCAAAACTTTTTTCCCTT	0.517																																						ENST00000322342.3																			0				endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15						c.(523-525)aafs		zinc binding alcohol dehydrogenase domain containing 2							269.0	285.0	280.0					18																	72913980		2203	4300	6503	SO:0001589	frameshift_variant	284273					peroxisome	oxidoreductase activity|zinc ion binding	g.chr18:72913980delT	BC033780	CCDS12008.1	18q22.3	2008-05-29	2008-05-29		ENSG00000180011	ENSG00000180011			28697	protein-coding gene	gene with protein product						12477932	Standard	NM_175907		Approved	MGC45594	uc002llx.3	Q8N4Q0	OTTHUMG00000132858	ENST00000322342.3:c.525delA	18.37:g.72913980delT	ENSP00000323678:p.Lys175fs					ZADH2_ENST00000537114.2_Frame_Shift_Del_p.K52fs	p.K175fs	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)	2	814	-		Esophageal squamous(42;0.131)|Prostate(75;0.155)	175					A8KA15|B4DZ91	Frame_Shift_Del	DEL	ENST00000322342.3	37	c.525delA	CCDS12008.1																																																																																				0.517	ZADH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256332.1	NM_175907		7	2332						7	2332	---	---	---	---
ZNF236	7776	broad.mit.edu	37	18	74593429	74593430	+	Frame_Shift_Ins	INS	-	-	A	rs201842338		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr18:74593429_74593430insA	ENST00000253159.8	+	9	1570_1571	c.1372_1373insA	c.(1372-1374)gaafs	p.E458fs	ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.E460fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	458					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GGATAAAAAAGAAAAAAAAATG	0.381																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(1372-1374)aaafs		zinc finger protein 236																																				SO:0001589	frameshift_variant	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74593429_74593430insA	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1381dupA	18.37:g.74593438_74593438dupA	ENSP00000253159:p.Glu458fs					ZNF236_ENST00000320610.9_Frame_Shift_Ins_p.K460fs	p.K458fs	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	9	1570_1571	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	458					B2RTX9|Q9UL37	Frame_Shift_Ins	INS	ENST00000253159.8	37	c.1372_1373insA	CCDS42447.1																																																																																				0.381	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			7	298						7	298	---	---	---	---
MAMSTR	284358	broad.mit.edu	37	19	49218105	49218106	+	Frame_Shift_Ins	INS	-	-	G	rs373516785		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:49218105_49218106insG	ENST00000318083.6	-	6	548_549	c.485_486insC	c.(484-486)ccafs	p.P162fs	MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	162	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CCAACTTGTGTGGGGGGGGCGA	0.569																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(484-486)ccafs		MEF2 activating motif and SAP domain containing transcriptional regulator																																				SO:0001589	frameshift_variant	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49218105_49218106insG	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.486dupC	19.37:g.49218113_49218113dupG	ENSP00000324175:p.Pro162fs					MAMSTR_ENST00000377367.3_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000419611.1_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000356751.4_Frame_Shift_Ins_p.P59fs|MAMSTR_ENST00000594582.1_Frame_Shift_Ins_p.P59fs	p.P162fs			Q6ZN01	MASTR_HUMAN			6	548_549	-			162			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Frame_Shift_Ins	INS	ENST00000318083.6	37	c.485_486insC	CCDS46137.1																																																																																				0.569	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		7	713						7	713	---	---	---	---
SCAF1	58506	broad.mit.edu	37	19	50156709	50156711	+	In_Frame_Del	DEL	GGA	GGA	-	rs199563438	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr19:50156709_50156711delGGA	ENST00000360565.3	+	7	3187_3189	c.3063_3065delGGA	c.(3061-3066)gcggag>gcg	p.E1039del		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1039	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GAGGTGGGGCggaggaggaggag	0.655																																						ENST00000360565.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20						c.(3061-3066)gcg>gc		SR-related CTD-associated factor 1																																				SO:0001651	inframe_deletion	58506				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:50156709_50156711delGGA	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3063_3065delGGA	19.37:g.50156718_50156720delGGA	ENSP00000353769:p.Glu1039del						p.AE1021del	NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)	7	3187_3189	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)	1021			Glu-rich.		Q7Z5V7|Q8WVA1|Q9NR59	In_Frame_Del	DEL	ENST00000360565.3	37	c.3063_3065delGGA	CCDS33074.1																																																																																				0.655	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228		7	67						7	67	---	---	---	---
TRMT6	51605	broad.mit.edu	37	20	5919208	5919208	+	Frame_Shift_Del	DEL	T	T	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr20:5919208delT	ENST00000203001.2	-	11	1597	c.1467delA	c.(1465-1467)aaafs	p.K489fs	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Frame_Shift_Del_p.K319fs	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	489					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						GGCATTTTCGTTTTTTAGCTG	0.408																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(1465-1467)aafs		tRNA methyltransferase 6 homolog (S. cerevisiae)							131.0	134.0	133.0					20																	5919208		2203	4300	6503	SO:0001589	frameshift_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5919208delT	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.1467delA	20.37:g.5919208delT	ENSP00000203001:p.Lys489fs					TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Frame_Shift_Del_p.K319fs	p.K489fs	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			11	1597	-			489					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Frame_Shift_Del	DEL	ENST00000203001.2	37	c.1467delA	CCDS13093.1																																																																																				0.408	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			7	818						7	818	---	---	---	---
MIR3687-2	103504728	broad.mit.edu	37	21	9825838	9825839	+	RNA	INS	-	-	GCG	rs372061766|rs369177681|rs563875271	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:9825838_9825839insGCG	ENST00000577708.1	+	0	0				MIR3648_ENST00000581792.1_RNA	NR_037458.1																						cggccgcgactgcggcggcggt	0.842																																						ENST00000581792.1																			0																																																			0							g.chr21:9825838_9825839insGCG																													21.37:g.9825845_9825847dupGCG								NR_037421.1						0	7_8	+									RNA	INS	ENST00000577708.1	37																																																																																						0.842	MIR3687-201	KNOWN	basic	miRNA	miRNA				7	12						7	12	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			11	384						11	384	---	---	---	---
TCP10L	140290	broad.mit.edu	37	21	33949091	33949091	+	Frame_Shift_Del	DEL	C	C	-	rs373347740		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr21:33949091delC	ENST00000300258.3	-	5	754	c.641delG	c.(640-642)ggtfs	p.G214fs	LINC00846_ENST00000334165.4_lincRNA|TCP10L_ENST00000472557.1_Frame_Shift_Del_p.G128fs	NM_144659.5	NP_653260.1	Q8TDR4	TCP1L_HUMAN	t-complex 10-like	214					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	protein self-association (GO:0043621)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)			breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTCAGACACCCCCCCGTCT	0.478																																						ENST00000300258.3																			0				breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						c.(640-642)gtfs		t-complex 10-like							118.0	108.0	112.0					21																	33949091		2203	4300	6503	SO:0001589	frameshift_variant	140290							g.chr21:33949091delC	AF115967	CCDS13616.1	21p22.11	2012-09-20	2012-09-20		ENSG00000242220	ENSG00000242220			11657	protein-coding gene	gene with protein product		608365	"""t-complex 10 (a murine tcp homolog)-like"", ""t-complex 10 (mouse)-like"""			10830953	Standard	NM_144659		Approved	PRED77		Q8TDR4	OTTHUMG00000064901	ENST00000300258.3:c.641delG	21.37:g.33949091delC	ENSP00000300258:p.Gly214fs					TCP10L_ENST00000491828.1_5'UTR	p.G214fs	NM_144659.5	NP_653260.1					5	754	-								Q53EW0|Q96LN5	Frame_Shift_Del	DEL	ENST00000300258.3	37	c.641delG	CCDS13616.1																																																																																				0.478	TCP10L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139350.1	NM_144659		7	597						7	597	---	---	---	---
HIRA	7290	broad.mit.edu	37	22	19373136	19373138	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:19373136_19373138delGCT	ENST00000263208.5	-	12	1491_1493	c.1235_1237delAGC	c.(1234-1239)cagctg>ctg	p.Q412del	HIRA_ENST00000541063.1_In_Frame_Del_p.Q368del|HIRA_ENST00000340170.4_In_Frame_Del_p.Q412del|HIRA_ENST00000546308.1_In_Frame_Del_p.Q368del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	412	Poly-Gln.				anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|gastrulation (GO:0007369)|muscle cell differentiation (GO:0042692)|osteoblast differentiation (GO:0001649)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTCTGGTCCAGCTGCTGCTGCTG	0.581																																						ENST00000263208.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37						c.(1234-1239)ctg>c		histone cell cycle regulator																																				SO:0001651	inframe_deletion	7290				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr22:19373136_19373138delGCT	X75296	CCDS13759.1	22q11.2	2013-05-03	2013-05-03		ENSG00000100084	ENSG00000100084		"""WD repeat domain containing"""	4916	protein-coding gene	gene with protein product	"""DiGeorge critical region gene 1"""	600237	"""HIR (histone cell cycle regulation defective) homolog A (S. cerevisiae)"", ""HIR histone cell cycle regulation defective homolog A (S. cerevisiae)"""	TUPLE1		8111380, 7633437, 9731536	Standard	NM_003325		Approved	DGCR1, TUP1	uc002zpf.1	P54198	OTTHUMG00000150134	ENST00000263208.5:c.1235_1237delAGC	22.37:g.19373145_19373147delGCT	ENSP00000263208:p.Gln412del					HIRA_ENST00000546308.1_In_Frame_Del_p.QL368del|HIRA_ENST00000340170.4_In_Frame_Del_p.QL412del|HIRA_ENST00000541063.1_In_Frame_Del_p.QL368del	p.QL412del	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN			12	1491_1493	-	Colorectal(54;0.0993)		412			Poly-Gln.		Q05BU9|Q8IXN2	In_Frame_Del	DEL	ENST00000263208.5	37	c.1235_1237delAGC	CCDS13759.1																																																																																				0.581	HIRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316488.2	NM_003325		8	294						8	294	---	---	---	---
SF3A1	10291	broad.mit.edu	37	22	30742328	30742330	+	In_Frame_Del	DEL	CTG	CTG	-	rs141985009	byFrequency	TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chr22:30742328_30742330delCTG	ENST00000215793.8	-	3	518_520	c.364_366delCAG	c.(364-366)cagdel	p.Q122del	SF3A1_ENST00000439242.1_Intron	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	122	Poly-Gln.				gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GCTGGGTGGTCTGCTGCTGCTGC	0.606																																						ENST00000215793.7																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(364-366)del		splicing factor 3a, subunit 1, 120kDa																																				SO:0001651	inframe_deletion	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30742328_30742330delCTG	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.364_366delCAG	22.37:g.30742337_30742339delCTG	ENSP00000215793:p.Gln122del					SF3A1_ENST00000439242.1_Intron	p.Q122del	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN			3	518_520	-			122			Poly-Gln.		E9PAW1	In_Frame_Del	DEL	ENST00000215793.8	37	c.364_366delCAG	CCDS13875.1																																																																																				0.606	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877		14	733						14	733	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-	rs312262846|rs312262847|rs312262848		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48.0	47.0	47.0			4.2	1.0	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		7	313						7	313	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:16850849_16850850delAG	ENST00000380122.5	+	6	1029_1030	c.968_969delAG	c.(967-969)cagfs	p.Q323fs	TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	323					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						GAAAAACATCAGAGAGAGAGAG	0.386																																						ENST00000380122.5																			0				breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						c.(967-969)cfs		taxilin gamma																																				SO:0001589	frameshift_variant	55787				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane		g.chrX:16850849_16850850delAG	AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.968_969delAG	X.37:g.16850859_16850860delAG	ENSP00000369465:p.Gln323fs					TXLNG_ENST00000398155.4_Frame_Shift_Del_p.Q191fs	p.Q323fs	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN			6	1029_1030	+			323					Q2KQ75|Q5JNZ7|Q9P0X1	Frame_Shift_Del	DEL	ENST00000380122.5	37	c.968_969delAG	CCDS14178.1																																																																																				0.386	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055912.1	NM_018360		10	403						10	403	---	---	---	---
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:50350711_50350713delTCC	ENST00000289292.7	-	6	3712_3714	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1143_1144EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1027_1028EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1143	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547																																						ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3427-3432)gaa>ga		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350711_50350713delTCC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3429_3431delGGA	X.37:g.50350711_50350713delTCC	ENSP00000289292:p.Glu1151del					SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del|SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del	p.EE1149del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			6	3454_3456	-	Ovarian(276;0.236)		1149			Glu-rich.		A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3429_3431delGGA	CCDS35277.1																																																																																				0.547	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		9	83						9	83	---	---	---	---
HCFC1	3054	broad.mit.edu	37	X	153216342	153216342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-US-A77J-01A-11D-A32N-08	TCGA-US-A77J-11A-11D-A32N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ef1b12-2e82-41c7-a7b6-ecdd198b3788	0a347018-b42c-4fb7-98e6-6ae5c73930ad	g.chrX:153216342delC	ENST00000310441.7	-	23	6591	c.5625delG	c.(5623-5625)gggfs	p.G1875fs	HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs|HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1875	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTGAAGGGCCCCCGGCCAC	0.567																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5623-5625)ggfs		host cell factor C1 (VP16-accessory protein)							126.0	136.0	133.0					X																	153216342		1957	4129	6086	SO:0001589	frameshift_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216342delC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5625delG	X.37:g.153216342delC	ENSP00000309555:p.Gly1875fs					HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs|HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs	p.G1875fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6591	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1875					Q6P4G5	Frame_Shift_Del	DEL	ENST00000310441.7	37	c.5625delG	CCDS44020.1																																																																																				0.567	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		8	1773						8	1773	---	---	---	---
