#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
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					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.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.H514D(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1540-1542)Cat>Gat		zinc finger protein 844							87.0	81.0	83.0					19																	12187475		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187475C>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1540C>G	19.37:g.12187475C>G	ENSP00000392024:p.His514Asp					ZNF844_ENST00000441304.2_3'UTR	p.H514D	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1715	+			514					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1540C>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	c	0.059	-1.227642	0.01518	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.06371	3.31	2.45	-4.91	0.03085	.	.	.	.	.	T	0.02649	0.0080	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44019	-0.9355	9	0.25106	T	0.35	.	9.0916	0.36614	0.0:0.4133:0.4132:0.1735	.	514	Q08AG5	ZN844_HUMAN	D	514	ENSP00000392024:H514D	ENSP00000392024:H514D	H	+	1	0	ZNF844	12048475	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-4.066000	0.00302	-2.826000	0.00341	-1.839000	0.00587	CAT		0.408	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			5	281	0	0	0	3.59834e-05	0	5	281				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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		9	146	0	0	0	9.31168e-06	0	9	146				
CELSR2	1952	broad.mit.edu	37	1	109812124	109812124	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:109812124C>T	ENST00000271332.3	+	21	6952	c.6891C>T	c.(6889-6891)gcC>gcT	p.A2297A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2297					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)		TGCCCCGGGCCCTGGACAAAC	0.597																																					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.(6889-6891)gcC>gcT		cadherin, EGF LAG seven-pass G-type receptor 2							70.0	65.0	67.0					1																	109812124		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:109812124C>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.6891C>T	1.37:g.109812124C>T							p.A2297A	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)	21	6952	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	2297					Q5T2Y7|Q92566	Silent	SNP	ENST00000271332.3	37	c.6891C>T	CCDS796.1																																																																																				0.597	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		66	201	0	0	0	2.47226e-05	0	66	201				
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:12155673A>C	ENST00000547628.1	-	4	680	c.543T>G	c.(541-543)agT>agG	p.S181R	ZNF878_ENST00000602107.1_Missense_Mutation_p.S228R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA	NM_001080404.2	NP_001073873.2	C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403																																						ENST00000602107.1																			0				cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(682-684)agT>agG		zinc finger protein 878							189.0	199.0	196.0					19																	12155673		2112	4260	6372	SO:0001583	missense	729747				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:12155673A>C		CCDS45984.1, CCDS45984.2	19p13.2	2013-01-08				ENSG00000257446		"""Zinc fingers, C2H2-type"", ""-"""	37246	protein-coding gene	gene with protein product							Standard	NM_001080404		Approved		uc021upl.1	C9JN71		ENST00000547628.1:c.543T>G	19.37:g.12155673A>C	ENSP00000447931:p.Ser181Arg					CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron	p.S228R			C9JN71	ZN878_HUMAN			5	683	-			181						Missense_Mutation	SNP	ENST00000547628.1	37	c.684T>G	CCDS45984.2	.	.	.	.	.	.	.	.	.	.	a	0	-2.730166	0.00089	.	.	ENSG00000257446;ENSG00000232371	ENST00000547628;ENST00000440730	T	0.07216	3.21	1.24	-2.47	0.06442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.12831	0.26	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.39231	-0.9624	9	0.21540	T	0.41	.	5.2308	0.15420	0.5561:0.2971:0.0:0.1468	.	181	C9JN71	ZN878_HUMAN	R	181;228	ENSP00000447931:S181R	ENSP00000447931:S181R	S	-	3	2	AC022415.4;ZNF878	12016673	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	-2.785000	0.00359	-2.885000	0.00097	AGT		0.403	ZNF878-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403723.1	NM_001080404		8	1182	0	0	0	5.18039e-06	0	8	1182				
CHIT1	1118	broad.mit.edu	37	1	203194202	203194202	+	Silent	SNP	G	G	A	rs539275442		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:203194202G>A	ENST00000367229.1	-	4	322	c.288C>T	c.(286-288)atC>atT	p.I96I	CHIT1_ENST00000255427.3_Intron|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Intron	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	96					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TCCAGCCTCCGATGGCTAACA	0.562																																						ENST00000367229.1																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						c.(286-288)atC>atT		chitinase 1 (chitotriosidase)							74.0	67.0	69.0					1																	203194202		2203	4300	6503	SO:0001819	synonymous_variant	1118				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity	g.chr1:203194202G>A	U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.288C>T	1.37:g.203194202G>A						CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Intron|CHIT1_ENST00000255427.3_Intron	p.I96I	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN			4	322	-			96					B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	ENST00000367229.1	37	c.288C>T	CCDS1436.1																																																																																				0.562	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2	NM_003465		59	219	0	0	0	2.47226e-05	0	59	219				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		11	287	0	0	0	5.3912e-06	0	11	287				
DDX42	11325	broad.mit.edu	37	17	61897290	61897290	+	IGR	SNP	C	C	T	rs201755066		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:61897290C>T	ENST00000578681.1	+	0	4337				FTSJ3_ENST00000427159.2_Missense_Mutation_p.G806S	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CGGCCCACACCTTTTTTGGCT	0.532																																						ENST00000427159.2																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						c.(2416-2418)Ggt>Agt		FtsJ homolog 3 (E. coli)							154.0	143.0	147.0					17																	61897290		2203	4300	6503	SO:0001628	intergenic_variant	117246				RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding	g.chr17:61897290C>T	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3			17.37:g.61897290C>T							p.G806S	NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN			21	3061	-			806					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	37	c.2416G>A	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	C	19.04	3.750661	0.69533	.	.	ENSG00000108592	ENST00000427159	T	0.35605	1.3	4.9	4.9	0.64082	Ribosomal RNA methyltransferase, Spb1, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.49012	0.1532	L	0.41710	1.295	0.50313	D	0.999868	D	0.65815	0.995	D	0.65684	0.937	T	0.36792	-0.9733	10	0.39692	T	0.17	-18.513	15.6231	0.76824	0.0:1.0:0.0:0.0	.	806	Q8IY81	RRMJ3_HUMAN	S	806	ENSP00000396673:G806S	ENSP00000396673:G806S	G	-	1	0	FTSJ3	59251022	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.637000	0.67854	2.539000	0.85634	0.563000	0.77884	GGT		0.532	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372		117	422	0	0	0	2.47226e-05	0	117	422				
MCTP2	55784	broad.mit.edu	37	15	94945245	94945245	+	Silent	SNP	C	C	T	rs200511099		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:94945245C>T	ENST00000357742.4	+	16	2082	c.2082C>T	c.(2080-2082)ttC>ttT	p.F694F	MCTP2_ENST00000557742.1_Silent_p.F282F|MCTP2_ENST00000331706.4_Silent_p.F282F|MCTP2_ENST00000451018.3_Silent_p.F694F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	694					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAATAGCATTCGCGGTAAGCT	0.383													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17739	0.0		0.0	False		,,,				2504	0.0					ENST00000357742.4																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(2080-2082)ttC>ttT		multiple C2 domains, transmembrane 2							107.0	104.0	105.0					15																	94945245		2197	4298	6495	SO:0001819	synonymous_variant	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94945245C>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2082C>T	15.37:g.94945245C>T						MCTP2_ENST00000331706.4_Silent_p.F282F|MCTP2_ENST00000451018.3_Silent_p.F694F|MCTP2_ENST00000557742.1_Silent_p.F282F	p.F694F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		16	2082	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		694					A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	37	c.2082C>T	CCDS32338.1																																																																																				0.383	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349		102	451	0	0	0	2.47226e-05	0	102	451				
FAM8A1	51439	broad.mit.edu	37	6	17606162	17606162	+	Nonsense_Mutation	SNP	C	C	T	rs200897067		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:17606162C>T	ENST00000259963.3	+	4	1070	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	339	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCTGGGGCTTCGAGTTGTGAC	0.423																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1015-1017)Cga>Tga		family with sequence similarity 8, member A1							138.0	124.0	129.0					6																	17606162		2203	4300	6503	SO:0001587	stop_gained	51439					integral to membrane		g.chr6:17606162C>T	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1015C>T	6.37:g.17606162C>T	ENSP00000259963:p.Arg339*						p.R339*	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		4	1070	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	339			RDD.		B2R725	Nonsense_Mutation	SNP	ENST00000259963.3	37	c.1015C>T	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	C	38	6.704243	0.97776	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.4903	14.7518	0.69530	0.1446:0.8554:0.0:0.0	.	.	.	.	X	89;339	.	ENSP00000259963:R339X	R	+	1	2	FAM8A1	17714141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.888000	0.48594	2.704000	0.92352	0.650000	0.86243	CGA		0.423	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			6	323	0	0	0	3.86212e-05	0	6	323				
OR6C76	390326	broad.mit.edu	37	12	55820043	55820043	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:55820043A>C	ENST00000328314.3	+	1	6	c.6A>C	c.(4-6)aaA>aaC	p.K2N		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	2						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)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGAAATGAAAAATAGAACAT	0.353																																						ENST00000328314.3																			0				NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(4-6)aaA>aaC		olfactory receptor, family 6, subfamily C, member 76							102.0	99.0	100.0					12																	55820043		2203	4300	6503	SO:0001583	missense	390326				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55820043A>C		CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.6A>C	12.37:g.55820043A>C	ENSP00000328402:p.Lys2Asn						p.K2N	NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN			1	6	+			2						Missense_Mutation	SNP	ENST00000328314.3	37	c.6A>C	CCDS31823.1	.	.	.	.	.	.	.	.	.	.	a	14.40	2.524254	0.44866	.	.	ENSG00000185821	ENST00000328314	T	0.01455	4.87	4.35	0.417	0.16421	.	0.826740	0.10355	U	0.684675	T	0.01523	0.0049	N	0.25992	0.78	0.09310	N	1	B	0.16603	0.018	B	0.17098	0.017	T	0.47959	-0.9076	10	0.72032	D	0.01	.	2.9347	0.05810	0.518:0.2723:0.0781:0.1316	.	2	A6NM76	O6C76_HUMAN	N	2	ENSP00000328402:K2N	ENSP00000328402:K2N	K	+	3	2	OR6C76	54106310	0.003000	0.15002	0.105000	0.21289	0.688000	0.40055	1.295000	0.33377	-0.019000	0.14055	0.487000	0.48397	AAA		0.353	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183		18	311	0	0	0	2.27731e-05	0	18	311				
CPEB3	22849	broad.mit.edu	37	10	93870858	93870858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:93870858G>T	ENST00000265997.4	-	7	1719	c.1547C>A	c.(1546-1548)tCa>tAa	p.S516*	CPEB3_ENST00000412050.4_Nonsense_Mutation_p.S502*	NM_014912.4	NP_055727.3	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	516	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA destabilization (GO:0061158)|cellular response to amino acid stimulus (GO:0071230)|long-term memory (GO:0007616)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation (GO:0017148)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of mRNA polyadenylation (GO:1900365)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|regulation of dendritic spine development (GO:0060998)|regulation of synaptic plasticity (GO:0048167)|translation (GO:0006412)	apical dendrite (GO:0097440)|CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuron projection (GO:0043005)|nucleus (GO:0005634)|synapse (GO:0045202)	mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|translation factor activity, nucleic acid binding (GO:0008135)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGGGCTTGACACACACAG	0.473																																						ENST00000412050.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18						c.(1504-1506)tCa>tAa		cytoplasmic polyadenylation element binding protein 3							171.0	155.0	160.0					10																	93870858		2203	4300	6503	SO:0001587	stop_gained	22849						nucleotide binding|RNA binding	g.chr10:93870858G>T	AB023157	CCDS31246.1, CCDS53553.1	10q23.33	2013-02-12			ENSG00000107864	ENSG00000107864		"""RNA binding motif (RRM) containing"""	21746	protein-coding gene	gene with protein product		610606				10231032, 12672660	Standard	NM_014912		Approved	KIAA0940	uc001khw.2	Q8NE35	OTTHUMG00000018756	ENST00000265997.4:c.1547C>A	10.37:g.93870858G>T	ENSP00000265997:p.Ser516*					CPEB3_ENST00000265997.4_Nonsense_Mutation_p.S516*	p.S502*	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN			7	1593	-		Colorectal(252;0.0869)	516			RRM 1.		Q5T389|Q9NQJ7|Q9Y2E9	Nonsense_Mutation	SNP	ENST00000265997.4	37	c.1505C>A	CCDS31246.1	.	.	.	.	.	.	.	.	.	.	G	40	7.971917	0.98588	.	.	ENSG00000107864	ENST00000394210;ENST00000412050;ENST00000265997	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.285	19.8057	0.96531	0.0:0.0:1.0:0.0	.	.	.	.	X	502;502;516	.	ENSP00000265997:S516X	S	-	2	0	CPEB3	93860838	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.860000	0.99555	2.682000	0.91365	0.655000	0.94253	TCA		0.473	CPEB3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049387.2	NM_014912		11	625	1	0	3.45872e-05	3.45872e-05	0.00904506	11	625				
C17orf97	400566	broad.mit.edu	37	17	263666	263666	+	Silent	SNP	C	C	T	rs111388956		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:263666C>T	ENST00000360127.6	+	2	1048	c.1032C>T	c.(1030-1032)ggC>ggT	p.G344G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	374	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G344G(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.687																																						ENST00000360127.6																			2	Substitution - coding silent(2)	p.G344G(2)	kidney(2)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1030-1032)ggC>ggT		chromosome 17 open reading frame 97							11.0	17.0	15.0					17																	263666		1810	3749	5559	SO:0001819	synonymous_variant	400566							g.chr17:263666C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1032C>T	17.37:g.263666C>T						AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.G344G	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1048	+			374			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.1032C>T	CCDS32519.2																																																																																				0.687	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		12	271	0	0	0	2.17888e-05	0	12	271				
SMIM21	284274	broad.mit.edu	37	18	73130763	73130763	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:73130763T>C	ENST00000579022.1	-	2	377	c.238A>G	c.(238-240)Agg>Ggg	p.R80G	RP11-321M21.3_ENST00000578340.1_Intron|SMIM21_ENST00000584508.1_Missense_Mutation_p.R80G|SMIM21_ENST00000382638.3_Intron|RP11-321M21.3_ENST00000579386.1_Intron	NM_001037331.2	NP_001032408.1	Q3B7S5	SMI21_HUMAN	small integral membrane protein 21	80						integral component of membrane (GO:0016021)		p.R80G(1)									ctgttggcccttttccagtct	0.368																																						ENST00000584508.1																			1	Substitution - Missense(1)	p.R80G(1)	lung(1)								c.(238-240)Agg>Ggg		small integral membrane protein 21							136.0	131.0	133.0					18																	73130763		2203	4300	6503	SO:0001583	missense	284274							g.chr18:73130763T>C		CCDS32845.1	18q23	2013-03-11	2013-03-11	2013-03-11	ENSG00000206026	ENSG00000206026			27598	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 62"""	C18orf62			Standard	NM_001037331		Approved		uc002lma.1	Q3B7S5	OTTHUMG00000179126	ENST00000579022.1:c.238A>G	18.37:g.73130763T>C	ENSP00000462106:p.Arg80Gly					SMIM21_ENST00000382638.3_Intron|SMIM21_ENST00000579022.1_Missense_Mutation_p.R80G|RP11-321M21.3_ENST00000579386.1_Intron|RP11-321M21.3_ENST00000578340.1_Intron	p.R80G							2	356	-									Missense_Mutation	SNP	ENST00000579022.1	37	c.238A>G	CCDS32845.1	.	.	.	.	.	.	.	.	.	.	T	4.260	0.047263	0.08243	.	.	ENSG00000206026	ENST00000382638	.	.	.	2.47	-1.31	0.09230	.	.	.	.	.	T	0.16938	0.0407	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.25710	-1.0124	8	0.87932	D	0	.	5.9114	0.19031	0.0:0.5421:0.0:0.4579	.	80	Q3B7S5	CR062_HUMAN	G	80	.	ENSP00000372083:R80G	R	-	1	2	C18orf62	71259751	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.070000	0.14573	0.345000	0.23873	0.477000	0.44152	AGG		0.368	SMIM21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000444917.1	NM_001037331		5	501	0	0	0	2.0095e-06	0	5	501				
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R	p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		80	277	0	0	0	2.47226e-05	0	80	277				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					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.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	225	0	0	0	2.0095e-06	0	6	225				
SETMAR	6419	broad.mit.edu	37	3	4345079	4345079	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:4345079A>G	ENST00000358065.4	+	1	92	c.25A>G	c.(25-27)Aca>Gca	p.T9A	SETMAR_ENST00000425863.1_Missense_Mutation_p.T9A|SETMAR_ENST00000430981.1_Missense_Mutation_p.T9A|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	9	Histone-lysine N-methyltransferase.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCAAAGACGACACGGCCTTG	0.647								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(25-27)Aca>Gca	Chromatin Structure	SET domain and mariner transposase fusion gene							38.0	35.0	36.0					3																	4345079		2203	4300	6503	SO:0001583	missense	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4345079A>G	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.25A>G	3.37:g.4345079A>G	ENSP00000373354:p.Thr9Ala					SETMAR_ENST00000430981.1_Missense_Mutation_p.T9A|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.T9A	p.T9A	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	1	92	+		Melanoma(143;0.0657)	0			Histone-lysine N-methyltransferase.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Missense_Mutation	SNP	ENST00000358065.4	37	c.25A>G	CCDS2563.2	.	.	.	.	.	.	.	.	.	.	A	10.03	1.238717	0.22711	.	.	ENSG00000170364	ENST00000358065;ENST00000430981;ENST00000425863	D;D;T	0.95001	-3.52;-3.58;0.6	2.53	1.28	0.21552	.	.	.	.	.	D	0.85673	0.5751	N	0.22421	0.69	0.09310	N	1	.	.	.	.	.	.	T	0.71735	-0.4503	7	0.07644	T	0.81	.	5.2353	0.15443	0.6963:0.3037:0.0:0.0	.	.	.	.	A	9	ENSP00000373354:T9A;ENSP00000403000:T9A;ENSP00000403145:T9A	ENSP00000373354:T9A	T	+	1	0	SETMAR	4320079	0.012000	0.17670	0.000000	0.03702	0.002000	0.02628	0.084000	0.14891	0.084000	0.17077	0.482000	0.46254	ACA		0.647	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		12	37	0	0	0	9.31168e-06	0	12	37				
LRRC4B	94030	broad.mit.edu	37	19	51021095	51021095	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:51021095G>T	ENST00000599957.1	-	3	2072	c.1875C>A	c.(1873-1875)ccC>ccA	p.P625P	LRRC4B_ENST00000389201.3_Silent_p.P625P			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	625					positive regulation of synapse assembly (GO:0051965)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCGAGGCGGCGGGCAGCTCGT	0.726																																						ENST00000599957.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30						c.(1873-1875)ccC>ccA		leucine rich repeat containing 4B							16.0	18.0	18.0					19																	51021095		2030	4164	6194	SO:0001819	synonymous_variant	94030					cell junction|integral to membrane|presynaptic membrane		g.chr19:51021095G>T	BC032460	CCDS42595.1	19q13.33	2014-01-30	2004-06-14	2004-06-16	ENSG00000131409	ENSG00000131409		"""Immunoglobulin superfamily / I-set domain containing"", ""Endogenous ligands"""	25042	protein-coding gene	gene with protein product	"""netrin-G3 ligand"""		"""leucine-rich repeats and immunoglobulin-like domains 4"""	LRIG4		11441184	Standard	NM_001080457		Approved	DKFZp761A179, HSM	uc002pss.3	Q9NT99		ENST00000599957.1:c.1875C>A	19.37:g.51021095G>T						LRRC4B_ENST00000389201.3_Silent_p.P625P	p.P625P			Q9NT99	LRC4B_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)	3	2072	-		all_neural(266;0.131)	625					Q3ZCQ4|Q58F20	Silent	SNP	ENST00000599957.1	37	c.1875C>A	CCDS42595.1																																																																																				0.726	LRRC4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464907.1	NM_001080457		39	107	1	0	2.19358e-23	2.86225e-05	6.60691e-21	39	107				
COL27A1	85301	broad.mit.edu	37	9	116930332	116930332	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:116930332G>A	ENST00000356083.3	+	3	888	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	166	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTCCGAGGCCGCACAGTCACT	0.692																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(496-498)cGc>cAc		collagen, type XXVII, alpha 1							19.0	20.0	20.0					9																	116930332		2199	4287	6486	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930332G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.497G>A	9.37:g.116930332G>A	ENSP00000348385:p.Arg166His						p.R166H	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			3	888	+			166			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.497G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	7.648	0.682203	0.14907	.	.	ENSG00000196739	ENST00000356083;ENST00000357257;ENST00000374106;ENST00000451716	T;T	0.02177	4.41;4.41	5.12	1.8	0.24995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	.	.	.	.	T	0.02267	0.0070	L	0.39397	1.21	0.29313	N	0.867892	B;B	0.22003	0.063;0.022	B;B	0.14023	0.01;0.004	T	0.34925	-0.9809	9	0.27785	T	0.31	.	7.4557	0.27266	0.392:0.0:0.6079:0.0	.	166;113	Q8IZC6;Q5T1U7	CORA1_HUMAN;.	H	166;166;113;113	ENSP00000348385:R166H;ENSP00000391328:R113H	ENSP00000348385:R166H	R	+	2	0	COL27A1	115970153	0.996000	0.38824	0.960000	0.40013	0.391000	0.30476	2.880000	0.48530	0.549000	0.28973	-0.263000	0.10527	CGC		0.692	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		6	204	0	0	0	3.59834e-05	0	6	204				
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament (GO:0045095)		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632																																						ENST00000361883.5																			11	Substitution - Missense(11)	p.I88T(11)	lung(7)|kidney(1)|prostate(1)|endometrium(1)|central_nervous_system(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17						c.(262-264)aTc>aCc		keratin associated protein 1-5							26.0	30.0	28.0					17																	39183145		2054	4217	6271	SO:0001583	missense	83895					keratin filament		g.chr17:39183145A>G	AJ406928	CCDS42321.1	17q21.2	2013-06-25			ENSG00000221852	ENSG00000221852		"""Keratin associated proteins"""	16777	protein-coding gene	gene with protein product		608822				11279113	Standard	NM_031957		Approved	KAP1.5	uc002hvu.3	Q9BYS1	OTTHUMG00000133587	ENST00000361883.5:c.263T>C	17.37:g.39183145A>G	ENSP00000355302:p.Ile88Thr						p.I88T	NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	309	-		Breast(137;0.00043)	88			15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].		A6NJW6|A6NLZ6|B6ZDR1|Q52LP6	Missense_Mutation	SNP	ENST00000361883.5	37	c.263T>C	CCDS42321.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-2.877501	0.00061	.	.	ENSG00000221852	ENST00000361883;ENST00000543389	T	0.25579	1.79	2.87	0.645	0.17782	.	.	.	.	.	T	0.03178	0.0093	N	0.00055	-2.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38650	-0.9651	9	0.05721	T	0.95	.	2.2484	0.04037	0.117:0.3609:0.3383:0.1838	.	88	Q9BYS1	KRA15_HUMAN	T	88;78	ENSP00000355302:I88T	ENSP00000355302:I88T	I	-	2	0	KRTAP1-5	36436671	0.730000	0.28100	0.005000	0.12908	0.023000	0.10783	0.636000	0.24644	-0.052000	0.13311	-0.215000	0.12644	ATC		0.632	KRTAP1-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257691.1			11	242	0	0	0	5.01169e-05	0	11	242				
ZNF844	284391	broad.mit.edu	37	19	12187502	12187502	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:12187502A>G	ENST00000439326.3	+	4	1742	c.1567A>G	c.(1567-1569)Aaa>Gaa	p.K523E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	523					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.K523E(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						CAAATGCATGAAAGGACTCAC	0.413																																						ENST00000439326.3																			1	Substitution - Missense(1)	p.K523E(1)	endometrium(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						c.(1567-1569)Aaa>Gaa		zinc finger protein 844							94.0	85.0	88.0					19																	12187502		692	1591	2283	SO:0001583	missense	284391				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12187502A>G	AL832297	CCDS45985.1	19p13.2	2013-01-08			ENSG00000223547	ENSG00000223547		"""Zinc fingers, C2H2-type"", ""-"""	25932	protein-coding gene	gene with protein product							Standard	NM_001136501		Approved	FLJ14959	uc002mtb.2	Q08AG5	OTTHUMG00000156405	ENST00000439326.3:c.1567A>G	19.37:g.12187502A>G	ENSP00000392024:p.Lys523Glu					ZNF844_ENST00000441304.2_3'UTR	p.K523E	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN			4	1742	+			523					Q5JPI8	Missense_Mutation	SNP	ENST00000439326.3	37	c.1567A>G	CCDS45985.1	.	.	.	.	.	.	.	.	.	.	a	8.659	0.899999	0.17686	.	.	ENSG00000223547	ENST00000439326;ENST00000541708	T	0.05786	3.39	2.31	-0.0571	0.13803	.	.	.	.	.	T	0.04452	0.0122	L	0.53617	1.68	0.09310	N	1	B	0.26081	0.141	B	0.15052	0.012	T	0.46638	-0.9177	9	0.05833	T	0.94	.	2.4497	0.04515	0.525:0.0:0.2647:0.2102	.	523	Q08AG5	ZN844_HUMAN	E	523	ENSP00000392024:K523E	ENSP00000392024:K523E	K	+	1	0	ZNF844	12048502	0.000000	0.05858	0.000000	0.03702	0.438000	0.31896	-0.320000	0.08028	-0.243000	0.09653	0.166000	0.16787	AAA		0.413	ZNF844-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344086.2			4	221	0	0	0	1.23904e-05	0	4	221				
ZNF43	7594	broad.mit.edu	37	19	21990830	21990830	+	Missense_Mutation	SNP	A	A	C	rs199855387		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:21990830A>C	ENST00000354959.4	-	4	2178	c.2009T>G	c.(2008-2010)aTa>aGa	p.I670R	ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R|ZNF43_ENST00000594012.1_Missense_Mutation_p.I664R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	670					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)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGTATGAATTATCTTATGTTT	0.368																																						ENST00000594012.1																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51						c.(1990-1992)aTa>aGa		zinc finger protein 43																																				SO:0001583	missense	7594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21990830A>C	X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.2009T>G	19.37:g.21990830A>C	ENSP00000347045:p.Ile670Arg					ZNF43_ENST00000354959.4_Missense_Mutation_p.I670R|ZNF43_ENST00000595461.1_Missense_Mutation_p.I664R|ZNF43_ENST00000598381.1_Missense_Mutation_p.I664R	p.I664R	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)	7	2505	-		Renal(1328;0.000219)|Hepatocellular(1079;0.121)	670					A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	ENST00000354959.4	37	c.1991T>G	CCDS12413.2	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.634793	0.00007	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	T	0.12465	2.68	1.76	-3.53	0.04667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01835	0.0058	N	0.00133	-2.03	0.09310	N	1	B	0.09022	0.002	B	0.13407	0.009	T	0.33752	-0.9856	9	0.02654	T	1	.	4.0493	0.09788	0.179:0.591:0.0:0.23	.	670	P17038	ZNF43_HUMAN	R	669;670	ENSP00000347045:I670R	ENSP00000347045:I670R	I	-	2	0	ZNF43	21782670	0.000000	0.05858	0.000000	0.03702	0.718000	0.41266	-3.559000	0.00431	-1.192000	0.02691	-1.026000	0.02426	ATA		0.368	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250380.2	NM_003423		6	500	0	0	0	5.50884e-06	0	6	500				
WHAMMP3	339005	broad.mit.edu	37	15	23205193	23205193	+	RNA	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:23205193A>G	ENST00000400153.2	-	0	661					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GGTGTCCTTGAATAACCTAGA	0.398																																						ENST00000400153.2																			0																																																			0							g.chr15:23205193A>G	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205193A>G								NR_003521.1						0	661	-								Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.398	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	NR_003521		6	102	0	0	0	2.0095e-06	0	6	102				
TM6SF1	53346	broad.mit.edu	37	15	83776476	83776476	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:83776476C>T	ENST00000322019.9	+	1	318	c.44C>T	c.(43-45)tCg>tTg	p.S15L	TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	15						integral component of membrane (GO:0016021)		p.S15W(1)		endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTGTCCCTCTCGGCCATCCCG	0.736																																						ENST00000322019.9																			1	Substitution - Missense(1)	p.S15W(1)	urinary_tract(1)	endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(43-45)tCg>tTg		transmembrane 6 superfamily member 1							29.0	27.0	27.0					15																	83776476		2200	4300	6500	SO:0001583	missense	53346					integral to membrane		g.chr15:83776476C>T	AF255922	CCDS10323.1, CCDS45338.1	15q24-q26	2003-04-04			ENSG00000136404	ENSG00000136404			11860	protein-coding gene	gene with protein product		606562				11124529	Standard	NM_001144903		Approved		uc002bjp.3	Q9BZW5	OTTHUMG00000147365	ENST00000322019.9:c.44C>T	15.37:g.83776476C>T	ENSP00000317000:p.Ser15Leu					TM6SF1_ENST00000379390.6_Missense_Mutation_p.S15L|TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379386.4_Missense_Mutation_p.S15L|TM6SF1_ENST00000565774.1_Missense_Mutation_p.S15L	p.S15L			Q9BZW5	TM6S1_HUMAN			1	318	+			15					A8K7T5|H3BU56|Q4U0U5	Missense_Mutation	SNP	ENST00000322019.9	37	c.44C>T	CCDS10323.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.678630	0.47886	.	.	ENSG00000136404	ENST00000322019;ENST00000379386;ENST00000379384;ENST00000379390;ENST00000258909	T;T;T;T;T	0.36699	1.24;1.24;1.24;1.24;1.24	3.12	2.19	0.27852	.	0.244473	0.31847	U	0.006973	T	0.18551	0.0445	N	0.11927	0.2	0.28287	N	0.923729	B;B;B	0.16802	0.008;0.017;0.019	B;B;B	0.11329	0.002;0.002;0.006	T	0.12192	-1.0557	10	0.40728	T	0.16	-5.543	7.7752	0.29033	0.0:0.8663:0.0:0.1337	.	15;15;15	E9PD04;Q6P4D7;Q9BZW5	.;.;TM6S1_HUMAN	L	15	ENSP00000317000:S15L;ENSP00000368696:S15L;ENSP00000368693:S15L;ENSP00000368700:S15L;ENSP00000258909:S15L	ENSP00000258909:S15L	S	+	2	0	TM6SF1	81567480	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	3.405000	0.52630	0.318000	0.23185	0.306000	0.20318	TCG		0.736	TM6SF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000304009.1	NM_023003		9	99	0	0	0	2.17888e-05	0	9	99				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			9	347	0	0	0	5.01169e-05	0	9	347				
PRSS3P2	154754	broad.mit.edu	37	7	142478865	142478865	+	RNA	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142478865T>C	ENST00000603901.1	+	0	26					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ATCCTTGCCTTTGTGGGAGCT	0.567																																						ENST00000603901.1																			0																																																			0							g.chr7:142478865T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142478865T>C								NR_001296.3						0	26	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.567	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		4	182	0	0	0	1.12685e-05	0	4	182				
HERC2	8924	broad.mit.edu	37	15	28375699	28375699	+	Silent	SNP	G	G	A	rs61756151	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													G|||	24	0.00479233	0.0	0.0029	5008	,	,		19360	0.0		0.003	False		,,,				2504	0.0194					ENST00000261609.7																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(12610-12612)tgC>tgT		HECT and RLD domain containing E3 ubiquitin protein ligase 2		G		1,4405	2.1+/-5.4	0,1,2202	185.0	196.0	192.0		12612	-1.0	1.0	15	dbSNP_129	192	32,8568	22.8+/-68.1	0,32,4268	no	coding-synonymous	HERC2	NM_004667.4		0,33,6470	AA,AG,GG		0.3721,0.0227,0.2537		4204/4835	28375699	33,12973	2203	4300	6503	SO:0001819	synonymous_variant	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28375699G>A	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.12612C>T	15.37:g.28375699G>A							p.C4204C	NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	82	12720	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	4204						Silent	SNP	ENST00000261609.7	37	c.12612C>T	CCDS10021.1																																																																																				0.418	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667		9	1341	0	0	0	1.12685e-05	0	9	1341				
SERPINC1	462	broad.mit.edu	37	1	173876629	173876629	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:173876629C>A	ENST00000367698.3	-	6	1295	c.1177G>T	c.(1177-1179)Gac>Tac	p.D393Y		NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	393					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	ACATAGAGGTCATCTCGGCCT	0.473																																						ENST00000367698.3																			0				NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25						c.(1177-1179)Gac>Tac		serpin peptidase inhibitor, clade C (antithrombin), member 1	Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)						253.0	232.0	239.0					1																	173876629		2203	4300	6503	SO:0001583	missense	462				blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr1:173876629C>A	X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.1177G>T	1.37:g.173876629C>A	ENSP00000356671:p.Asp393Tyr						p.D393Y	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN			6	1295	-			393					B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Missense_Mutation	SNP	ENST00000367698.3	37	c.1177G>T	CCDS1313.1	.	.	.	.	.	.	.	.	.	.	C	10.38	1.333334	0.24167	.	.	ENSG00000117601	ENST00000367698;ENST00000351522	D	0.83837	-1.77	5.98	3.06	0.35304	Serpin domain (3);	0.500387	0.24154	N	0.041055	T	0.73923	0.3649	M	0.84948	2.725	0.37608	D	0.920818	B	0.27264	0.173	B	0.19391	0.025	T	0.75578	-0.3269	10	0.72032	D	0.01	.	8.898	0.35476	0.1214:0.7482:0.0:0.1304	.	393	P01008	ANT3_HUMAN	Y	393;188	ENSP00000356671:D393Y	ENSP00000307953:D188Y	D	-	1	0	SERPINC1	172143252	0.997000	0.39634	0.230000	0.23976	0.173000	0.22820	3.778000	0.55371	0.858000	0.35431	0.650000	0.86243	GAC		0.473	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090734.1	NM_000488		11	1073	1	0	3.86212e-05	3.86212e-05	0.0096937	11	1073				
RELN	5649	broad.mit.edu	37	7	103132427	103132427	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:103132427A>G	ENST00000428762.1	-	58	9575	c.9416T>C	c.(9415-9417)gTa>gCa	p.V3139A	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3139A|RELN_ENST00000343529.5_Missense_Mutation_p.V3139A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3139					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTCCAGCATTACGGAATGAAG	0.363																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000424685.2																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9415-9417)gTa>gCa		reelin							94.0	84.0	87.0					7																	103132427		2203	4300	6503	SO:0001583	missense	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103132427A>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9416T>C	7.37:g.103132427A>G	ENSP00000392423:p.Val3139Ala					RELN_ENST00000343529.5_Missense_Mutation_p.V3139A|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000428762.1_Missense_Mutation_p.V3139A	p.V3139A			P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	58	9575	-			3139					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	37	c.9416T>C	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.658140	0.88154	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.34472	1.36;1.36;1.36	5.93	5.93	0.95920	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	M	0.76170	2.325	0.58432	D	0.999999	D;B	0.55800	0.973;0.34	D;B	0.63957	0.92;0.224	T	0.63812	-0.6552	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	3139;3139	P78509-2;P78509	.;RELN_HUMAN	A	3139;3139;3139;656;3139	ENSP00000392423:V3139A;ENSP00000345694:V3139A;ENSP00000388446:V3139A	ENSP00000345694:V3139A	V	-	2	0	RELN	102919663	1.000000	0.71417	0.843000	0.33291	0.866000	0.49608	8.558000	0.90704	2.271000	0.75665	0.459000	0.35465	GTA		0.363	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045		54	179	0	0	0	2.47226e-05	0	54	179				
MACF1	23499	broad.mit.edu	37	1	39951311	39951311	+	Silent	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:39951311T>C	ENST00000372915.3	+	97	22099	c.22012T>C	c.(22012-22014)Tta>Cta	p.L7338L	MACF1_ENST00000317713.7_Silent_p.L5380L|MACF1_ENST00000564288.1_Silent_p.L7505L|MACF1_ENST00000289893.4_Silent_p.L5888L|MACF1_ENST00000545844.1_Silent_p.L5380L|MACF1_ENST00000539005.1_Silent_p.L5250L|MACF1_ENST00000361689.2_Silent_p.L5380L|MACF1_ENST00000567887.1_Silent_p.L7542L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7338	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CTTTGACCTCTTAGAGACGCA	0.587																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22513-22515)Tta>Cta		microtubule-actin crosslinking factor 1							69.0	75.0	73.0					1																	39951311		2203	4300	6503	SO:0001819	synonymous_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39951311T>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.22012T>C	1.37:g.39951311T>C						MACF1_ENST00000545844.1_Silent_p.L5380L|MACF1_ENST00000539005.1_Silent_p.L5250L|MACF1_ENST00000289893.4_Silent_p.L5888L|MACF1_ENST00000361689.2_Silent_p.L5380L|MACF1_ENST00000567887.1_Silent_p.L7542L|MACF1_ENST00000317713.7_Silent_p.L5380L|MACF1_ENST00000372915.3_Silent_p.L7338L	p.L7505L			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		101	23290	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7338					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37	c.22513T>C		.	.	.	.	.	.	.	.	.	.	T	4.373	0.068714	0.08436	.	.	ENSG00000127603	ENST00000372925;ENST00000446276	T;T	0.67865	1.42;-0.29	5.28	-1.78	0.07957	.	0.000000	0.44483	D	0.000443	T	0.59622	0.2207	.	.	.	0.30229	N	0.796068	.	.	.	.	.	.	T	0.59925	-0.7362	6	.	.	.	.	11.6204	0.51115	0.0:0.7097:0.0:0.2903	.	.	.	.	P	4383;404	ENSP00000362016:L4383P;ENSP00000391512:L404P	.	L	+	2	0	MACF1	39723898	0.036000	0.19791	0.951000	0.38953	0.993000	0.82548	0.258000	0.18387	-0.143000	0.11334	0.533000	0.62120	CTT		0.587	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		71	207	0	0	0	2.47226e-05	0	71	207				
WNT2B	7482	broad.mit.edu	37	1	113059836	113059836	+	Missense_Mutation	SNP	C	C	T	rs201153849		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:113059836C>T	ENST00000369684.4	+	4	1260	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	WNT2B_ENST00000256640.5_Missense_Mutation_p.R167C|RP4-671G15.2_ENST00000608357.1_RNA|WNT2B_ENST00000369686.5_Missense_Mutation_p.R240C	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B	259					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCAGATTTCCGCCGCACAGG	0.617																																						ENST00000369684.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18						c.(775-777)Cgc>Tgc		wingless-type MMTV integration site family, member 2B							69.0	57.0	61.0					1																	113059836		2203	4300	6503	SO:0001583	missense	7482				chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity	g.chr1:113059836C>T	AB045116	CCDS847.1, CCDS846.1	1p13	2008-07-18			ENSG00000134245	ENSG00000134245		"""Wingless-type MMTV integration sites"""	12781	protein-coding gene	gene with protein product	"""XWNT2, Xenopus, homolog of"", ""wingless-type MMTV integration site family, member 13"""	601968		WNT13		8761309, 10944466	Standard	NM_024494		Approved	XWNT2	uc001ecb.3	Q93097	OTTHUMG00000011157	ENST00000369684.4:c.775C>T	1.37:g.113059836C>T	ENSP00000358698:p.Arg259Cys					WNT2B_ENST00000369686.4_Missense_Mutation_p.R240C|WNT2B_ENST00000256640.5_Missense_Mutation_p.R167C	p.R259C	NM_024494.2	NP_078613.1	Q93097	WNT2B_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1260	+	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)	259					O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2	Missense_Mutation	SNP	ENST00000369684.4	37	c.775C>T	CCDS847.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659360	0.88154	.	.	ENSG00000134245	ENST00000256640;ENST00000369686;ENST00000369684	T;T;T	0.78924	-1.22;-1.22;-1.22	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91593	0.7344	H	0.95950	3.745	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	D	0.93785	0.7087	10	0.87932	D	0	.	19.0601	0.93090	0.0:1.0:0.0:0.0	.	259;240	Q93097;Q93097-2	WNT2B_HUMAN;.	C	167;240;259	ENSP00000256640:R167C;ENSP00000358700:R240C;ENSP00000358698:R259C	ENSP00000256640:R167C	R	+	1	0	WNT2B	112861359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.367000	0.52350	2.599000	0.87857	0.555000	0.69702	CGC		0.617	WNT2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030692.1	NM_004185		67	220	0	0	0	2.47226e-05	0	67	220				
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding. {ECO:0000255}.				angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|labyrinthine layer blood vessel development (GO:0060716)|lung alveolus development (GO:0048286)|neuron development (GO:0048666)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)|sulfotransferase activity (GO:0008146)	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627																																						ENST00000259241.6																			2	Substitution - Nonsense(2)	p.R185*(2)	prostate(1)|pancreas(1)	endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15						c.(553-555)Cga>Tga		heparan sulfate 6-O-sulfotransferase 1																																				SO:0001587	stop_gained	9394				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	g.chr2:129026419G>A	AB006179	CCDS42748.1	2q21	2010-03-19		2002-08-23	ENSG00000136720	ENSG00000136720		"""Sulfotransferases, membrane-bound"""	5201	protein-coding gene	gene with protein product		604846		HS6ST		9535912	Standard	NM_004807		Approved		uc002tpt.4	O60243	OTTHUMG00000153542	ENST00000259241.6:c.553C>T	2.37:g.129026419G>A	ENSP00000259241:p.Arg185*						p.R185*	NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	2	566	-	Colorectal(110;0.1)		185			3'-phosphate binding (Potential).		B4DEP2|B4DJ29|Q53SL2|Q9BVI1	Nonsense_Mutation	SNP	ENST00000259241.6	37	c.553C>T	CCDS42748.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.065652	0.76187	.	.	ENSG00000136720	ENST00000259241	.	.	.	4.85	2.8	0.32819	.	0.051973	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.284	0.49212	0.0:0.0:0.3759:0.6241	.	.	.	.	X	185	.	.	R	-	1	2	HS6ST1	128742889	1.000000	0.71417	0.985000	0.45067	0.971000	0.66376	1.846000	0.39289	1.015000	0.39444	0.462000	0.41574	CGA		0.627	HS6ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331572.1	NM_004807		6	202	0	0	0	2.17888e-05	0	6	202				
NBEAP1	606	broad.mit.edu	37	15	20876539	20876539	+	RNA	SNP	T	T	A	rs199718498	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:20876539T>A	ENST00000556948.1	-	0	61							P0C6P0	BCL8_HUMAN	neurobeachin pseudogene 1																		ACCATCAAGGTATTTTGCAAA	0.348													T|||	94	0.01877	0.0219	0.0144	5008	,	,		40180	0.0188		0.0149	False		,,,				2504	0.0215					ENST00000556948.1																			0																																																			0							g.chr15:20876539T>A			15q11.2	2014-03-20	2011-05-03	2011-05-03	ENSG00000258590	ENSG00000258590			1007	pseudogene	pseudogene		601889	"""B-cell CLL/lymphoma 8"""	BCL8		9159141	Standard	NR_027992		Approved	BCL8A	uc010tze.1	P0C6P0	OTTHUMG00000171717		15.37:g.20876539T>A														0	61	-									RNA	SNP	ENST00000556948.1	37																																																																																						0.348	NBEAP1-002	KNOWN	not_best_in_genome_evidence|basic	retained_intron	pseudogene	OTTHUMT00000414853.1	NR_027992		62	810	0	0	0	2.47226e-05	0	62	810				
PCDHB7	56129	broad.mit.edu	37	5	140553447	140553447	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:140553447G>A	ENST00000231137.3	+	1	1205	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	344	Cadherin 3. {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)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACGATAATCGACCCGAGCTG	0.458																																						ENST00000231137.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1030-1032)cGa>cAa									42.0	43.0	43.0					5																	140553447		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553447G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1031G>A	5.37:g.140553447G>A	ENSP00000231137:p.Arg344Gln						p.R344Q	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1205	+			344			Cadherin 3.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1031G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	G	8.889	0.953432	0.18431	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01725	4.67	4.18	1.2	0.21068	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.02156	0.0067	L	0.39245	1.2	0.23180	N	0.99816	B	0.06786	0.001	B	0.04013	0.001	T	0.40961	-0.9535	9	0.66056	D	0.02	.	9.3365	0.38054	0.2689:0.5558:0.1753:0.0	.	344	Q9Y5E2	PCDB7_HUMAN	Q	344;127	ENSP00000231137:R344Q	ENSP00000231137:R344Q	R	+	2	0	PCDHB7	140533631	0.012000	0.17670	0.626000	0.29213	0.013000	0.08279	2.647000	0.46639	0.054000	0.16065	-1.142000	0.01873	CGA		0.458	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		52	239	0	0	0	2.47226e-05	0	52	239				
GTPBP4	23560	broad.mit.edu	37	10	1058521	1058521	+	Silent	SNP	T	T	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:1058521T>A	ENST00000360803.4	+	14	1543	c.1461T>A	c.(1459-1461)atT>atA	p.I487I	GTPBP4_ENST00000538293.1_Silent_p.I371I|GTPBP4_ENST00000545048.1_Silent_p.I440I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	487					GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		CAAAGCAAATTCGAGAGAAAA	0.443																																						ENST00000360803.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21						c.(1459-1461)atT>atA		GTP binding protein 4							69.0	78.0	75.0					10																	1058521		2203	4300	6503	SO:0001819	synonymous_variant	23560				negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr10:1058521T>A	AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.1461T>A	10.37:g.1058521T>A						GTPBP4_ENST00000545048.1_Silent_p.I440I|GTPBP4_ENST00000538293.1_Silent_p.I371I	p.I487I	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)	14	1543	+		all_epithelial(10;0.107)|Colorectal(49;0.14)	487					B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	ENST00000360803.4	37	c.1461T>A	CCDS31132.1																																																																																				0.443	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046412.1	NM_012341		76	201	0	0	0	2.47226e-05	0	76	201				
PRAMEF1	65121	broad.mit.edu	37	1	12855916	12855916	+	Missense_Mutation	SNP	G	G	A	rs534609491		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12855916G>A	ENST00000332296.7	+	4	1299	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													.|||	1	0.000199681	0.0	0.0	5008	,	,		19644	0.0		0.0	False		,,,				2504	0.001					ENST00000332296.7																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(1195-1197)cGc>cAc		PRAME family member 1							49.0	46.0	47.0					1																	12855916		2201	4294	6495	SO:0001583	missense	65121							g.chr1:12855916G>A	AL049686	CCDS148.1	1p36.21	2013-01-17			ENSG00000116721	ENSG00000116721		"""-"""	28840	protein-coding gene	gene with protein product							Standard	NM_023013		Approved		uc001auj.2	O95521	OTTHUMG00000001928	ENST00000332296.7:c.1196G>A	1.37:g.12855916G>A	ENSP00000332134:p.Arg399His					PRAMEF1_ENST00000400814.3_Missense_Mutation_p.R154H	p.R399H	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1299	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399					Q9UQP2	Missense_Mutation	SNP	ENST00000332296.7	37	c.1196G>A	CCDS148.1	.	.	.	.	.	.	.	.	.	.	.	2.972	-0.212215	0.06140	.	.	ENSG00000116721	ENST00000332296;ENST00000400814	T;T	0.49432	0.78;0.78	1.56	-0.674	0.11369	.	1.571450	0.04233	N	0.335492	T	0.30008	0.0751	L	0.27053	0.805	0.09310	N	1	B	0.18166	0.026	B	0.11329	0.006	T	0.09357	-1.0678	10	0.12430	T	0.62	.	4.1186	0.10094	0.4747:0.0:0.5253:0.0	.	399	O95521	PRAM1_HUMAN	H	399;154	ENSP00000332134:R399H;ENSP00000383616:R154H	ENSP00000332134:R399H	R	+	2	0	PRAMEF1	12778503	0.000000	0.05858	0.003000	0.11579	0.017000	0.09413	-2.135000	0.01306	-0.196000	0.10366	0.205000	0.17691	CGC		0.557	PRAMEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005458.1	NM_023013		134	300	0	0	0	2.47226e-05	0	134	300				
ZNF99	7652	broad.mit.edu	37	19	22940484	22940484	+	Missense_Mutation	SNP	T	T	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:22940484T>G	ENST00000596209.1	-	4	2317	c.2227A>C	c.(2227-2229)Aag>Cag	p.K743Q	ZNF99_ENST00000397104.3_Missense_Mutation_p.K652Q|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	743					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GAGGACCACTTAAAAGCTTTA	0.383																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1954-1956)Aag>Cag		zinc finger protein 99							24.0	25.0	25.0					19																	22940484		1858	3964	5822	SO:0001583	missense	7652							g.chr19:22940484T>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2227A>C	19.37:g.22940484T>G	ENSP00000472969:p.Lys743Gln					ZNF99_ENST00000596209.1_Missense_Mutation_p.K743Q	p.K652Q							5	1953	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1954A>C	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	1.065	-0.671716	0.03403	.	.	ENSG00000213973	ENST00000397104	T	0.07444	3.19	0.726	-0.421	0.12332	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	L	0.38733	1.17	0.09310	N	1	B	0.25351	0.124	B	0.23574	0.047	T	0.34254	-0.9836	9	0.37606	T	0.19	.	6.7913	0.23701	0.0:0.0:0.6032:0.3968	.	652	A8MXY4	ZNF99_HUMAN	Q	652	ENSP00000380293:K652Q	ENSP00000380293:K652Q	K	-	1	0	ZNF99	22732324	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.627000	0.02033	-2.012000	0.00950	-3.094000	0.00064	AAG		0.383	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		5	320	0	0	0	1.12685e-05	0	5	320				
RANBP2	5903	broad.mit.edu	37	2	109367729	109367729	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:109367729G>T	ENST00000283195.6	+	10	1409	c.1283G>T	c.(1282-1284)cGa>cTa	p.R428L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	428					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R428Q(6)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGTGCTATTCGAGCACATAAT	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	6	Substitution - Missense(6)	p.R428Q(6)	kidney(4)|endometrium(2)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1282-1284)cGa>cTa		RAN binding protein 2							79.0	97.0	91.0					2																	109367729		1502	2704	4206	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109367729G>T	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1283G>T	2.37:g.109367729G>T	ENSP00000283195:p.Arg428Leu						p.R428L	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			10	1409	+			428					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1283G>T	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	13.16	2.153992	0.38021	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.27720	1.65	5.08	5.08	0.68730	.	.	.	.	.	T	0.31167	0.0788	L	0.48362	1.52	0.32799	N	0.50017	B	0.29552	0.248	B	0.24974	0.057	T	0.36138	-0.9760	9	0.40728	T	0.16	-6.2923	18.8314	0.92141	0.0:0.0:1.0:0.0	.	428	P49792	RBP2_HUMAN	L	428	ENSP00000283195:R428L	ENSP00000283195:R428L	R	+	2	0	RANBP2	108734161	1.000000	0.71417	0.988000	0.46212	0.573000	0.36030	6.632000	0.74281	2.521000	0.84997	0.650000	0.86243	CGA		0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		18	1256	1	0	3.52763e-06	5.01169e-05	0.000968945	18	1256				
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	RP5-1024G6.7_ENST00000569869.1_RNA|MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			1	Substitution - Missense(1)	p.I137T(1)	lung(1)	haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(409-411)aTt>aCt		mago-nashi homolog, proliferation-associated (Drosophila)							58.0	56.0	57.0					1																	53692748		2203	4300	6503	SO:0001583	missense	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692748A>G	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.410T>C	1.37:g.53692748A>G	ENSP00000360525:p.Ile137Thr					MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	p.I137T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	571	-			137					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Missense_Mutation	SNP	ENST00000371470.3	37	c.410T>C	CCDS577.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.259752	0.59321	.	.	ENSG00000162385	ENST00000371470;ENST00000371466	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.86410	0.5926	M	0.80028	2.48	0.80722	D	1	B;B	0.32717	0.051;0.381	B;P	0.61003	0.12;0.882	D	0.84407	0.0563	9	0.42905	T	0.14	-19.5899	16.8222	0.85835	1.0:0.0:0.0:0.0	.	100;137	B1ARP8;P61326	.;MGN_HUMAN	T	137;100	.	ENSP00000360521:I100T	I	-	2	0	MAGOH	53465336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.802000	0.91910	2.371000	0.80710	0.533000	0.62120	ATT		0.378	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		5	334	0	0	0	3.59834e-05	0	5	334				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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		10	684	0	0	0	3.45872e-05	0	10	684				
PPAN	56342	broad.mit.edu	37	19	10220315	10220315	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:10220315G>T	ENST00000253107.7	+	6	628	c.522G>T	c.(520-522)ctG>ctT	p.L174L	PPAN_ENST00000556468.1_Silent_p.L174L|PPAN-P2RY11_ENST00000393796.4_Silent_p.L174L|SNORD105B_ENST00000458770.1_RNA|SNORD105_ENST00000386910.1_RNA|PPAN_ENST00000393793.1_Silent_p.L121L|P2RY11_ENST00000321826.4_5'Flank|PPAN-P2RY11_ENST00000428358.1_Silent_p.L174L	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	174	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			AGGTGAACCTGAACACCATCA	0.577																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(520-522)ctG>ctT									250.0	263.0	258.0					19																	10220315		2203	4300	6503	SO:0001819	synonymous_variant	0				RNA splicing	nucleolus	protein binding	g.chr19:10220315G>T	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.522G>T	19.37:g.10220315G>T						PPAN-P2RY11_ENST00000393796.4_Silent_p.L174L|PPAN_ENST00000253107.7_Silent_p.L174L|PPAN_ENST00000393793.1_Silent_p.L121L|PPAN_ENST00000556468.1_Silent_p.L174L	p.L174L	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		6	694	+			174			Brix.		C9J3F9|Q9BW97|Q9H170	Silent	SNP	ENST00000253107.7	37	c.522G>T	CCDS12225.1																																																																																				0.577	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		17	1433	1	0	3.86212e-05	3.86212e-05	0.0096937	17	1433				
HIST2H2BE	8349	broad.mit.edu	37	1	149858030	149858030	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:149858030C>T	ENST00000369155.2	-	1	202	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	54					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G54D(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GGACGAGATGCCGGTGTCGGG	0.587																																						ENST00000369155.2																			2	Substitution - Missense(2)	p.G54D(2)	lung(2)	breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14						c.(160-162)gGc>gAc		histone cluster 2, H2be							179.0	169.0	173.0					1																	149858030		2203	4298	6501	SO:0001583	missense	8349				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr1:149858030C>T	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.161G>A	1.37:g.149858030C>T	ENSP00000358151:p.Gly54Asp						p.G54D	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	202	-	Breast(34;0.0124)|all_hematologic(923;0.127)		54					A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	ENST00000369155.2	37	c.161G>A	CCDS936.1	.	.	.	.	.	.	.	.	.	.	C	28.0	4.885533	0.91814	.	.	ENSG00000184678	ENST00000369155	T	0.69435	-0.4	5.89	5.89	0.94794	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	D	0.84602	0.5508	M	0.93150	3.385	0.50171	D	0.999859	D	0.61697	0.99	D	0.64595	0.927	D	0.87651	0.2528	10	0.87932	D	0	.	18.9081	0.92471	0.0:1.0:0.0:0.0	.	54	Q16778	H2B2E_HUMAN	D	54	ENSP00000358151:G54D	ENSP00000358151:G54D	G	-	2	0	HIST2H2BE	148124654	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.820000	0.69250	2.810000	0.96702	0.586000	0.80456	GGC		0.587	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033455.1	NM_003528		9	1377	0	0	0	1.12685e-05	0	9	1377				
RLIM	51132	broad.mit.edu	37	X	73811739	73811739	+	Missense_Mutation	SNP	A	A	G	rs201164156		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:73811739A>G	ENST00000332687.6	-	4	1629	c.1411T>C	c.(1411-1413)Tca>Cca	p.S471P	RLIM_ENST00000349225.2_Missense_Mutation_p.S471P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	471	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ctggaacttgaactggaactg	0.483																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1411-1413)Tca>Cca		ring finger protein, LIM domain interacting																																				SO:0001583	missense	51132				random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chrX:73811739A>G	AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1411T>C	X.37:g.73811739A>G	ENSP00000328059:p.Ser471Pro					RLIM_ENST00000349225.2_Missense_Mutation_p.S471P	p.S471P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1629	-			471			Poly-Ser.|Ser-rich.		B2RBQ1|D3DTE0|Q96D38|Q9Y598	Missense_Mutation	SNP	ENST00000332687.6	37	c.1411T>C	CCDS14427.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.619369	0.00118	.	.	ENSG00000131263	ENST00000332687;ENST00000349225	D;D	0.85258	-1.96;-1.96	1.66	0.0881	0.14453	.	0.638142	0.11946	U	0.514165	T	0.59032	0.2164	N	0.08118	0	0.09310	N	1	P	0.44734	0.842	B	0.29267	0.1	T	0.56607	-0.7951	10	0.34782	T	0.22	-0.2213	3.7245	0.08469	0.5962:0.4038:0.0:0.0	.	471	Q9NVW2	RNF12_HUMAN	P	471	ENSP00000328059:S471P;ENSP00000253571:S471P	ENSP00000328059:S471P	S	-	1	0	RLIM	73728464	0.991000	0.36638	0.012000	0.15200	0.011000	0.07611	0.068000	0.14531	0.675000	0.31264	0.441000	0.28932	TCA		0.483	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		4	221	0	0	0	5.01169e-05	0	4	221				
IGHA2	3494	broad.mit.edu	37	14	106054693	106054693	+	RNA	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:106054693C>A	ENST00000390539.2	-	0	39				AL928742.1_ENST00000581377.1_RNA|AL928742.2_ENST00000578042.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										GGGGTGCTGTCGAGGCTCAGC	0.637																																						ENST00000390539.2																			0																				58.0	65.0	63.0					14																	106054693		2084	4203	6287			0							g.chr14:106054693C>A	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106054693C>A														0	39	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.637	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		6	321	1	0	1.15088e-07	3.45872e-05	3.28512e-05	6	321				
NONO	4841	broad.mit.edu	37	X	70517747	70517747	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:70517747C>T	ENST00000276079.8	+	9	1295	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R364W|NONO_ENST00000535149.1_Missense_Mutation_p.R275W|NONO_ENST00000373856.3_Missense_Mutation_p.R364W	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	364	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGAAATGATGCGGCGACAGCA	0.512			T	TFE3	papillary renal cancer																																	ENST00000535149.1				Dom	yes		X	Xq13.1	4841	T	"""non-POU domain containing, octamer-binding"""			E	TFE3		papillary renal cancer	NONO/TFE3(2)	0				endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19						c.(823-825)Cgg>Tgg		non-POU domain containing, octamer-binding							91.0	68.0	76.0					X																	70517747		2203	4300	6503	SO:0001583	missense	4841				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding	g.chrX:70517747C>T	L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.1090C>T	X.37:g.70517747C>T	ENSP00000276079:p.Arg364Trp					NONO_ENST00000373856.3_Missense_Mutation_p.R364W|NONO_ENST00000373841.1_Missense_Mutation_p.R364W|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000276079.8_Missense_Mutation_p.R364W	p.R275W	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN			7	1466	+	Renal(35;0.156)		364			DBHS.		B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Missense_Mutation	SNP	ENST00000276079.8	37	c.823C>T	CCDS14410.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.235855	0.58886	.	.	ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841	T;T;T;T	0.31510	1.54;1.49;1.49;1.49	5.23	4.35	0.52113	.	0.050066	0.85682	D	0.000000	T	0.50548	0.1622	M	0.75085	2.285	0.80722	D	1	D	0.76494	0.999	P	0.62089	0.898	T	0.54576	-0.8273	10	0.87932	D	0	-11.2943	11.2281	0.48897	0.5288:0.4712:0.0:0.0	.	364	Q15233	NONO_HUMAN	W	275;364;364;364	ENSP00000441364:R275W;ENSP00000276079:R364W;ENSP00000362963:R364W;ENSP00000362947:R364W	ENSP00000276079:R364W	R	+	1	2	NONO	70434472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.256000	0.51492	1.145000	0.42336	0.529000	0.55759	CGG		0.512	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057138.1	NM_007363		5	132	0	0	0	3.59834e-05	0	5	132				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000567960.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																0							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T						TUBB8P7_ENST00000564451.1_RNA								0	1076	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	735	0	0	0	3.86212e-05	0	8	735				
POTEH	23784	broad.mit.edu	37	22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr22:16287770C>T	ENST00000343518.6	-	1	167	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(115-117)gGc>gAc		POTE ankyrin domain family, member H							88.0	108.0	101.0					22																	16287770		1970	3758	5728	SO:0001583	missense	23784							g.chr22:16287770C>T	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.116G>A	22.37:g.16287770C>T	ENSP00000340610:p.Gly39Asp						p.G39D	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	167	-			39					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.116G>A	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	10.31	1.313845	0.23908	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.57752	0.38	.	.	.	.	.	.	.	.	T	0.42131	0.1189	L	0.29908	0.895	0.09310	N	1	D	0.61697	0.99	P	0.52823	0.71	T	0.32134	-0.9918	7	0.07644	T	0.81	.	.	.	.	.	39	Q6S545	POTEH_HUMAN	D	39	ENSP00000340610:G39D	ENSP00000340610:G39D	G	-	2	0	POTEH	14667770	0.002000	0.14202	0.022000	0.16811	0.022000	0.10575	0.904000	0.28491	0.073000	0.16731	0.074000	0.15403	GGC		0.592	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		9	1547	0	0	0	3.59834e-05	0	9	1547				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	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.S168S(5)		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)		tgctgctgctgctactgctgc	0.537			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		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(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.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>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.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	p.S168S	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	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		7	241	0	0	0	5.18039e-06	0	7	241				
PRSS3P2	154754	broad.mit.edu	37	7	142479942	142479942	+	RNA	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142479942T>C	ENST00000603901.1	+	0	74					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GACAAGATCGTTGGGGGCTAC	0.562																																						ENST00000603901.1																			0																				106.0	72.0	82.0					7																	142479942		692	1591	2283			0							g.chr7:142479942T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142479942T>C								NR_001296.3						0	74	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.562	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		51	957	0	0	0	1.69351e-05	0	51	957				
SRL	6345	broad.mit.edu	37	16	4245590	4245590	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:4245590G>A	ENST00000399609.3	-	5	586	c.574C>T	c.(574-576)Cca>Tca	p.P192S	SRL_ENST00000537996.1_Missense_Mutation_p.P150S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	651	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						ATGATGCCTGGTGTATCCACA	0.448																																						ENST00000399609.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(574-576)Cca>Tca		sarcalumenin							141.0	138.0	139.0					16																	4245590		1915	4135	6050	SO:0001583	missense	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4245590G>A	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.574C>T	16.37:g.4245590G>A	ENSP00000382518:p.Pro192Ser					SRL_ENST00000537996.1_Missense_Mutation_p.P150S	p.P192S	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN			5	586	-			651			Acidic domain, probably binds calcium (By similarity).			Missense_Mutation	SNP	ENST00000399609.3	37	c.574C>T	CCDS42113.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989453	0.93106	.	.	ENSG00000185739	ENST00000399609;ENST00000330063;ENST00000537996	D;D	0.99769	-6.7;-6.7	5.1	5.1	0.69264	.	0.000000	0.85682	U	0.000000	D	0.99880	0.9943	H	0.97415	4	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96581	0.9430	10	0.72032	D	0.01	-8.2552	19.0659	0.93110	0.0:0.0:1.0:0.0	.	192	Q86TD4-2	.	S	192;650;150	ENSP00000382518:P192S;ENSP00000440350:P150S	ENSP00000333285:P650S	P	-	1	0	SRL	4185591	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.567000	0.98161	2.797000	0.96272	0.655000	0.94253	CCA		0.448	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		184	517	0	0	0	2.47226e-05	0	184	517				
GOLGA3	2802	broad.mit.edu	37	12	133384600	133384600	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:133384600G>C	ENST00000450791.2	-	4	1238	c.1055C>G	c.(1054-1056)gCg>gGg	p.A352G	GOLGA3_ENST00000545875.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A352G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000204726.3_Missense_Mutation_p.A352G			Q08378	GOGA3_HUMAN	golgin A3	352					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CAGGGTATCCGCAGGAATCTC	0.632																																						ENST00000204726.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1054-1056)gCg>gGg		golgin A3							84.0	74.0	77.0					12																	133384600		2203	4300	6503	SO:0001583	missense	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133384600G>C	AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1055C>G	12.37:g.133384600G>C	ENSP00000410378:p.Ala352Gly					GOLGA3_ENST00000545875.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000537452.1_Missense_Mutation_p.A352G|GOLGA3_ENST00000456883.2_Missense_Mutation_p.A352G|GOLGA3_ENST00000450791.2_Missense_Mutation_p.A352G	p.A352G	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)	5	1613	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	352					A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Missense_Mutation	SNP	ENST00000450791.2	37	c.1055C>G	CCDS9281.1	.	.	.	.	.	.	.	.	.	.	g	9.288	1.049914	0.19827	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883;ENST00000537452;ENST00000545875	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.43	1.61	0.23674	.	0.752409	0.13598	N	0.376048	T	0.25975	0.0633	L	0.56769	1.78	0.21355	N	0.999713	P;P;B	0.43352	0.804;0.553;0.394	B;B;B	0.35727	0.148;0.148;0.209	T	0.07868	-1.0750	10	0.45353	T	0.12	.	9.2674	0.37650	0.3553:0.0:0.6447:0.0	.	352;352;352	Q08378-4;Q08378-2;Q08378	.;.;GOGA3_HUMAN	G	352	ENSP00000204726:A352G;ENSP00000410378:A352G;ENSP00000409303:A352G;ENSP00000442143:A352G;ENSP00000442603:A352G	ENSP00000204726:A352G	A	-	2	0	GOLGA3	131894673	0.023000	0.18921	0.000000	0.03702	0.001000	0.01503	2.066000	0.41452	0.289000	0.22422	-0.232000	0.12228	GCG		0.632	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		74	269	0	0	0	2.47226e-05	0	74	269				
NUB1	51667	broad.mit.edu	37	7	151046243	151046243	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:151046243A>G	ENST00000355851.4	+	3	279	c.202A>G	c.(202-204)Att>Gtt	p.I68V	NUB1_ENST00000413040.2_Missense_Mutation_p.I92V|NUB1_ENST00000566856.1_Missense_Mutation_p.I68V|NUB1_ENST00000568733.1_Missense_Mutation_p.I92V	NM_001243351.1	NP_001230280.1	Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	68					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|response to interferon-gamma (GO:0034341)|response to tumor necrosis factor (GO:0034612)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TTGCAAGGCAATTGAGCGTGG	0.368																																						ENST00000568733.1																			0				endometrium(1)|large_intestine(7)|lung(3)	11						c.(274-276)Att>Gtt		negative regulator of ubiquitin-like proteins 1							122.0	120.0	121.0					7																	151046243		1861	4102	5963	SO:0001583	missense	51667				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding	g.chr7:151046243A>G	AF300717	CCDS47751.1, CCDS47751.2, CCDS59089.1	7q36	2006-07-27			ENSG00000013374	ENSG00000013374			17623	protein-coding gene	gene with protein product	"""NEDD8 ultimate buster-1"""	607981				10508479, 11259415	Standard	NM_001243351		Approved	BS4, NYREN18	uc003wjx.3	Q9Y5A7	OTTHUMG00000157365	ENST00000355851.4:c.202A>G	7.37:g.151046243A>G	ENSP00000348110:p.Ile68Val					NUB1_ENST00000355851.4_Missense_Mutation_p.I68V|NUB1_ENST00000566856.1_Missense_Mutation_p.I68V|NUB1_ENST00000413040.2_Missense_Mutation_p.I92V	p.I92V			Q9Y5A7	NUB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)	3	340	+			68					O95422|Q75MR9|Q8IX22|Q9BXR2	Missense_Mutation	SNP	ENST00000355851.4	37	c.274A>G		.	.	.	.	.	.	.	.	.	.	A	11.23	1.576657	0.28092	.	.	ENSG00000013374	ENST00000413040;ENST00000355851;ENST00000470229;ENST00000490215;ENST00000483358	T;T;T	0.42900	0.96;0.96;0.96	5.95	2.18	0.27775	.	0.222920	0.47093	N	0.000249	T	0.23249	0.0562	N	0.25201	0.72	0.35458	D	0.7963	B;B;B	0.24092	0.097;0.002;0.004	B;B;B	0.18263	0.021;0.002;0.004	T	0.19976	-1.0289	10	0.14252	T	0.57	-16.5287	8.2332	0.31610	0.7526:0.0:0.2474:0.0	.	68;68;68	F8WDL9;Q9Y5A7;Q9Y5A7-2	.;NUB1_HUMAN;.	V	68	ENSP00000348110:I68V;ENSP00000418234:I68V;ENSP00000420086:I68V	ENSP00000348110:I68V	I	+	1	0	NUB1	150677176	0.995000	0.38212	0.991000	0.47740	0.997000	0.91878	1.119000	0.31258	0.131000	0.18576	0.533000	0.62120	ATT		0.368	NUB1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_016118		125	347	0	0	0	2.47226e-05	0	125	347				
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(88-90)gtA>gtT		taste receptor, type 2, member 19							85.0	80.0	82.0					12																	11175081		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175081T>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.90A>T	12.37:g.11175081T>A						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.V30V	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	138	-			30					Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.90A>T	CCDS8640.1																																																																																				0.408	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		7	368	0	0	0	2.0095e-06	0	7	368				
EIF2B2	8892	broad.mit.edu	37	14	75472658	75472658	+	Silent	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:75472658C>A	ENST00000266126.5	+	5	767	c.687C>A	c.(685-687)gtC>gtA	p.V229V	RP11-950C14.3_ENST00000554430.1_RNA	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN	eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa	229					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|central nervous system development (GO:0007417)|gene expression (GO:0010467)|myelination (GO:0042552)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.00661)		TGTCAAGAGTCAACAAGGTGG	0.383																																						ENST00000266126.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	11						c.(685-687)gtC>gtA		eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa							267.0	261.0	263.0					14																	75472658		2203	4300	6503	SO:0001819	synonymous_variant	8892				cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	ATP binding|GTP binding|protein binding|translation initiation factor activity	g.chr14:75472658C>A		CCDS9836.1	14q24.3	2008-08-11	2002-08-29			ENSG00000119718			3258	protein-coding gene	gene with protein product		606454	"""eukaryotic translation initiation factor 2B, subunit 2 (beta, 39kD)"""			8887689	Standard	NM_014239		Approved	EIF2B, EIF-2Bbeta	uc001xrc.2	P49770		ENST00000266126.5:c.687C>A	14.37:g.75472658C>A						RP11-950C14.3_ENST00000554430.1_RNA	p.V229V	NM_014239.3	NP_055054.1	P49770	EI2BB_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00661)	5	767	+			229					O43201	Silent	SNP	ENST00000266126.5	37	c.687C>A	CCDS9836.1																																																																																				0.383	EIF2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414993.1	NM_014239		12	1132	1	0	3.86212e-05	3.86212e-05	0.0096937	12	1132				
CADM1	23705	broad.mit.edu	37	11	115080343	115080343	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:115080343G>T	ENST00000452722.3	-	8	1049	c.1029C>A	c.(1027-1029)acC>acA	p.T343T	CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000537058.1_Silent_p.T343T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000536727.1_Intron	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_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Silent_p.T343T|CADM1_ENST00000452722.2_Silent_p.T343T	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		8	334	1	0	5.18039e-06	5.18039e-06	0.00141402	8	334				
IGHG1	3500	broad.mit.edu	37	14	106204137	106204137	+	RNA	SNP	T	T	C	rs587721044	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:106204137T>C	ENST00000390548.2	-	0	1161							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										TAGTCGGGGATGATGGTCTGC	0.657													.|||	2	0.000399361	0.0015	0.0	5008	,	,		10387	0.0		0.0	False		,,,				2504	0.0					ENST00000390548.2																			0																				84.0	88.0	87.0					14																	106204137		858	1989	2847			0							g.chr14:106204137T>C	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106204137T>C														0	1161	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.657	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		5	328	0	0	0	2.0095e-06	0	5	328				
MAP4	4134	broad.mit.edu	37	3	47958144	47958144	+	Silent	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:47958144A>G	ENST00000360240.6	-	7	1691	c.1173T>C	c.(1171-1173)gcT>gcC	p.A391A	MAP4_ENST00000395734.3_Silent_p.A391A|MAP4_ENST00000426837.2_Silent_p.A408A|MAP4_ENST00000383737.4_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4	391	17 X 14 AA tandem repeats.				cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)	p.A391A(2)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTTGGAAGGAGCCAAGTCCA	0.443																																						ENST00000426837.2																			2	Substitution - coding silent(2)	p.A391A(2)	lung(2)	breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32						c.(1222-1224)gcT>gcC		microtubule-associated protein 4							148.0	145.0	146.0					3																	47958144		2203	4300	6503	SO:0001819	synonymous_variant	4134				negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr3:47958144A>G		CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1173T>C	3.37:g.47958144A>G						MAP4_ENST00000360240.6_Silent_p.A391A|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Silent_p.A391A	p.A408A			P27816	MAP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	8	1311	-			391			17 X 14 AA tandem repeats.		Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	ENST00000360240.6	37	c.1224T>C	CCDS33750.1																																																																																				0.443	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346085.1	NM_002375		8	898	0	0	0	2.17888e-05	0	8	898				
DDX55	57696	broad.mit.edu	37	12	124103244	124103244	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:124103244G>T	ENST00000238146.4	+	12	1243	c.1193G>T	c.(1192-1194)aGa>aTa	p.R398I	DDX55_ENST00000541259.1_Intron|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Missense_Mutation_p.R367I|DDX55_ENST00000421670.3_Missense_Mutation_p.R5I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	398	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		AAGCCCCAGAGAAACACAGCG	0.527											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000238146.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1192-1194)aGa>aTa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							125.0	112.0	116.0					12																	124103244		2203	4300	6503	SO:0001583	missense	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103244G>T	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1193G>T	12.37:g.124103244G>T	ENSP00000238146:p.Arg398Ile		OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000421670.3_Missense_Mutation_p.R5I|DDX55_ENST00000541259.1_Intron|DDX55_ENST00000538744.1_Missense_Mutation_p.R367I	p.R398I	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	12	1243	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		398			Helicase C-terminal.		Q658L6|Q8IYH0|Q9HCH7	Missense_Mutation	SNP	ENST00000238146.4	37	c.1193G>T	CCDS9251.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.279677	0.23307	.	.	ENSG00000111364	ENST00000238146;ENST00000538744;ENST00000421670	T;T;T	0.44482	4.02;3.74;0.92	6.06	-2.24	0.06909	Helicase, C-terminal (1);	38.690800	0.00644	U	0.000527	T	0.19525	0.0469	N	0.02916	-0.46	0.25732	N	0.985252	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.13282	-1.0515	10	0.34782	T	0.22	-21.4456	5.5124	0.16888	0.29:0.1477:0.4657:0.0966	.	398;367	Q8NHQ9;F5H5U2	DDX55_HUMAN;.	I	398;367;5	ENSP00000238146:R398I;ENSP00000443114:R367I;ENSP00000442332:R5I	ENSP00000238146:R398I	R	+	2	0	DDX55	122669197	0.014000	0.17966	0.001000	0.08648	0.636000	0.38137	0.389000	0.20751	-0.570000	0.06022	-0.290000	0.09829	AGA		0.527	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			73	235	1	0	9.98788e-38	2.47226e-05	3.07184e-35	73	235				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000567960.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		12	467	0	0	0	2.31682e-05	0	12	467				
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527																																						ENST00000285039.7																			5	Substitution - Missense(5)	p.V1703A(5)	endometrium(2)|kidney(2)|lung(1)	NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(5107-5109)gTc>gCc		myosin VB							70.0	68.0	69.0					18																	47363917		2027	4186	6213	SO:0001583	missense	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47363917A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.5108T>C	18.37:g.47363917A>G	ENSP00000285039:p.Val1703Ala					MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A|SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A	p.V1703A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	37	5407	-			1703			Dilute.		B0I1R3|Q0P656|Q9H6Y6	Missense_Mutation	SNP	ENST00000285039.7	37	c.5108T>C	CCDS42436.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.542024	0.45280	.	.	ENSG00000167306	ENST00000285039;ENST00000324581	D;T	0.86432	-2.12;2.51	4.77	0.996	0.19844	Dilute (1);Dil domain (1);	0.146358	0.45126	N	0.000396	T	0.78534	0.4298	L	0.40543	1.245	0.36910	D	0.890859	B;B	0.13145	0.001;0.007	B;B	0.21708	0.012;0.036	T	0.66284	-0.5962	10	0.19147	T	0.46	.	8.6034	0.33758	0.7815:0.0:0.2185:0.0	.	1703;818	Q9ULV0;Q9H6Y6	MYO5B_HUMAN;.	A	1703;818	ENSP00000285039:V1703A;ENSP00000315531:V818A	ENSP00000285039:V1703A	V	-	2	0	MYO5B	45617915	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.310000	0.59141	0.082000	0.17018	0.482000	0.46254	GTC		0.527	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			6	181	0	0	0	2.17888e-05	0	6	181				
GEMIN4	50628	broad.mit.edu	37	17	650776	650776	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:650776C>G	ENST00000319004.5	-	2	625	c.507G>C	c.(505-507)aaG>aaC	p.K169N	GEMIN4_ENST00000576778.1_Missense_Mutation_p.K158N|GEMIN4_ENST00000437269.1_Intron	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	169					gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GACCCTTGTGCTTCATCACCT	0.562																																						ENST00000576778.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(472-474)aaG>aaC		gem (nuclear organelle) associated protein 4							139.0	147.0	144.0					17																	650776		2052	4183	6235	SO:0001583	missense	50628				rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding	g.chr17:650776C>G	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678		ENST00000319004.5:c.507G>C	17.37:g.650776C>G	ENSP00000321706:p.Lys169Asn					GEMIN4_ENST00000437269.1_Intron|GEMIN4_ENST00000319004.5_Missense_Mutation_p.K169N	p.K158N			P57678	GEMI4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	1	1815	-		Myeloproliferative disorder(207;0.204)	169					Q9NZS7|Q9UG32|Q9Y4Q2	Missense_Mutation	SNP	ENST00000319004.5	37	c.474G>C	CCDS45559.1	.	.	.	.	.	.	.	.	.	.	C	14.03	2.414065	0.42817	.	.	ENSG00000179409	ENST00000319004	T	0.16457	2.34	5.71	-1.79	0.07932	.	0.098372	0.64402	D	0.000002	T	0.29850	0.0746	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	P	0.62298	0.9	T	0.05533	-1.0879	10	0.87932	D	0	-25.9594	10.9603	0.47381	0.0:0.4889:0.0:0.5111	.	169	P57678	GEMI4_HUMAN	N	169	ENSP00000321706:K169N	ENSP00000321706:K169N	K	-	3	2	GEMIN4	597526	0.314000	0.24563	0.992000	0.48379	0.249000	0.25844	-0.239000	0.08965	-0.251000	0.09542	-0.136000	0.14681	AAG		0.562	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437181.1	NM_015721		6	825	0	0	0	5.18039e-06	0	6	825				
FAM8A1	51439	broad.mit.edu	37	6	17606169	17606169	+	Missense_Mutation	SNP	T	T	A	rs141659233		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:17606169T>A	ENST00000259963.3	+	4	1077	c.1022T>A	c.(1021-1023)gTg>gAg	p.V341E		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	341	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			CTTCGAGTTGTGACATGTGAT	0.423																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1021-1023)gTg>gAg		family with sequence similarity 8, member A1							145.0	128.0	134.0					6																	17606169		2203	4300	6503	SO:0001583	missense	51439					integral to membrane		g.chr6:17606169T>A	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1022T>A	6.37:g.17606169T>A	ENSP00000259963:p.Val341Glu						p.V341E	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		4	1077	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	341			RDD.		B2R725	Missense_Mutation	SNP	ENST00000259963.3	37	c.1022T>A	CCDS4540.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.021705	0.93462	.	.	ENSG00000137414	ENST00000542476;ENST00000259963	.	.	.	5.75	5.75	0.90469	RDD (1);	0.061431	0.64402	D	0.000005	T	0.77096	0.4080	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.81556	-0.0879	9	0.87932	D	0	-16.8719	16.0563	0.80809	0.0:0.0:0.0:1.0	.	341	Q9UBU6	FA8A1_HUMAN	E	91;341	.	ENSP00000259963:V341E	V	+	2	0	FAM8A1	17714148	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.644000	0.83416	2.183000	0.69458	0.528000	0.53228	GTG		0.423	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			6	324	0	0	0	3.86212e-05	0	6	324				
LOC645752	645752	broad.mit.edu	37	15	78213749	78213749	+	lincRNA	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:78213749C>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGCTGCAAGGCGTATTGCAGG	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78213749C>A																													15.37:g.78213749C>A						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	533	1	0	4.7796e-09	9.90768e-06	1.37329e-06	7	533				
FRG1B	284802	broad.mit.edu	37	20	29625956	29625956	+	Missense_Mutation	SNP	G	G	A	rs147809085		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:29625956G>A	ENST00000278882.3	+	5	580	c.200G>A	c.(199-201)aGa>aAa	p.R67K	FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	67								p.R67K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATTGGACCAAGAGAACAATGG	0.338																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.R67K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(199-201)aGa>aAa																																						SO:0001583	missense	0							g.chr20:29625956G>A			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.200G>A	20.37:g.29625956G>A	ENSP00000278882:p.Arg67Lys					FRG1B_ENST00000358464.4_Missense_Mutation_p.R67K|FRG1B_ENST00000439954.2_Missense_Mutation_p.R72K	p.R67K							5	580	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.200G>A		.	.	.	.	.	.	.	.	.	.	g	9.648	1.140706	0.21205	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.46063	0.88	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.27241	0.0668	.	.	.	0.46901	D	0.99924	B	0.02656	0.0	B	0.15484	0.013	T	0.07986	-1.0744	9	0.28530	T	0.3	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	72	F5H5R5	.	K	67;72;67	ENSP00000408863:R72K	ENSP00000278882:R67K	R	+	2	0	FRG1B	28239617	1.000000	0.71417	1.000000	0.80357	0.134000	0.20937	6.360000	0.73064	1.250000	0.43966	0.184000	0.17185	AGA		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		9	691	0	0	0	5.01169e-05	0	9	691				
GAS7	8522	broad.mit.edu	37	17	9923135	9923135	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:9923135G>A	ENST00000432992.2	-	2	423	c.263C>T	c.(262-264)tCg>tTg	p.S88L	GAS7_ENST00000396115.2_Missense_Mutation_p.S24L|GAS7_ENST00000579158.1_Missense_Mutation_p.S24L|GAS7_ENST00000540214.1_Missense_Mutation_p.S24L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000437099.2_Missense_Mutation_p.S24L|GAS7_ENST00000542249.1_Missense_Mutation_p.S24L|GAS7_ENST00000585266.1_Missense_Mutation_p.S28L|GAS7_ENST00000323816.4_Missense_Mutation_p.S28L	NM_201433.1	NP_958839.1	O60861	GAS7_HUMAN	growth arrest-specific 7	88	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				actin filament bundle assembly (GO:0051017)|actin filament polymerization (GO:0030041)|cell cycle arrest (GO:0007050)|neuron projection morphogenesis (GO:0048812)|regulation of cell shape (GO:0008360)|regulation of transcription, DNA-templated (GO:0006355)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|ruffle (GO:0001726)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						GCCCTGAGGCGACAGGTAGCT	0.597			T	MLL	AML*																																	ENST00000396115.1				Dom	yes		17	17p	8522	T	growth arrest-specific 7			L	MLL		AML*		0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						c.(82-84)tCg>tTg		growth arrest-specific 7							55.0	57.0	57.0					17																	9923135		2203	4300	6503	SO:0001583	missense	8522				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity	g.chr17:9923135G>A	AB007854	CCDS11152.1, CCDS42263.1, CCDS45611.1, CCDS58518.1	17p13.1	2004-02-18							4169	protein-coding gene	gene with protein product		603127				9736752	Standard	NM_001130831		Approved	KIAA0394, MGC1348	uc002gmg.1	O60861		ENST00000432992.2:c.263C>T	17.37:g.9923135G>A	ENSP00000407552:p.Ser88Leu					GAS7_ENST00000437099.2_Missense_Mutation_p.S24L|GAS7_ENST00000578655.1_5'UTR|GAS7_ENST00000540214.1_Missense_Mutation_p.S24L|GAS7_ENST00000585266.1_Missense_Mutation_p.S24L|GAS7_ENST00000432992.2_Missense_Mutation_p.S88L|GAS7_ENST00000323816.4_Missense_Mutation_p.S24L|GAS7_ENST00000579158.1_Missense_Mutation_p.S40L|GAS7_ENST00000542249.1_Missense_Mutation_p.S33L	p.S28L	NM_201432.1	NP_958836.1	O60861	GAS7_HUMAN			2	393	-			88			SH3.		A8KAC2|B2RCK9|O43144|Q53Y77|Q7Z571	Missense_Mutation	SNP	ENST00000432992.2	37	c.83C>T	CCDS11152.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610775	0.87258	.	.	ENSG00000007237	ENST00000323816;ENST00000396115;ENST00000437099;ENST00000540214;ENST00000537970	T;D;D	0.83250	2.04;-1.7;-1.7	5.02	5.02	0.67125	WW/Rsp5/WWP (6);	0.000000	0.85682	D	0.000000	D	0.90219	0.6942	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.68765	0.96;0.901;0.96	D	0.90263	0.4302	9	.	.	.	-21.8984	15.3829	0.74673	0.0:0.0:1.0:0.0	.	40;28;88	B7Z2L1;A8KAC2;O60861	.;.;GAS7_HUMAN	L	88;28;27;24;28	ENSP00000322608:S88L;ENSP00000379421:S28L;ENSP00000446214:S24L	.	S	-	2	0	GAS7	9863860	1.000000	0.71417	0.993000	0.49108	0.905000	0.53344	5.593000	0.67550	2.620000	0.88729	0.563000	0.77884	TCG		0.597	GAS7-017	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439883.1	NM_003644, NM_201432, NM_201433		47	169	0	0	0	1.69351e-05	0	47	169				
NFKBIB	4793	broad.mit.edu	37	19	39398260	39398260	+	Silent	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:39398260C>T	ENST00000313582.5	+	5	964	c.930C>T	c.(928-930)ccC>ccT	p.P310P	NFKBIB_ENST00000572515.1_Silent_p.P310P|NFKBIB_ENST00000392079.3_Silent_p.P278P	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	310					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			AATCCGGCCCCTGCAGCAGCA	0.692																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000392079.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(832-834)ccC>ccT		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							10.0	12.0	11.0					19																	39398260		2182	4270	6452	SO:0001819	synonymous_variant	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39398260C>T	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.930C>T	19.37:g.39398260C>T						NFKBIB_ENST00000572515.1_Silent_p.P310P|NFKBIB_ENST00000313582.5_Silent_p.P310P	p.P278P			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		5	932	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		310					A8K3F4|Q96BJ7	Silent	SNP	ENST00000313582.5	37	c.834C>T	CCDS12524.1																																																																																				0.692	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		24	56	0	0	0	5.49717e-05	0	24	56				
ZNF451	26036	broad.mit.edu	37	6	57018799	57018799	+	Silent	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:57018799A>G	ENST00000370706.4	+	13	3268	c.3024A>G	c.(3022-3024)ggA>ggG	p.G1008G	RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000491832.2_Silent_p.G1008G|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|ZNF451_ENST00000357489.3_Silent_p.G960G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1008					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ACTTAGAGGGAGATATGATGT	0.458																																						ENST00000370706.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						c.(3022-3024)ggA>ggG		zinc finger protein 451							86.0	84.0	85.0					6																	57018799		2203	4300	6503	SO:0001819	synonymous_variant	26036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:57018799A>G	AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.3024A>G	6.37:g.57018799A>G						RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA|ZNF451_ENST00000357489.3_Silent_p.G960G|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000491832.2_Silent_p.G1008G|RP11-203B9.4_ENST00000586053.1_RNA	p.G1008G	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		13	3268	+	Lung NSC(77;0.145)		1008					Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Silent	SNP	ENST00000370706.4	37	c.3024A>G	CCDS43477.1																																																																																				0.458	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041035.2	NM_015555		104	331	0	0	0	2.47226e-05	0	104	331				
RP11-252A24.2	0	broad.mit.edu	37	16	74372644	74372644	+	RNA	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:74372644A>G	ENST00000429810.2	-	0	1552																											TACCCTTGTCAGGGGGAACAA	0.443																																						ENST00000429810.2																			0																																																			0							g.chr16:74372644A>G																													16.37:g.74372644A>G														0	1552	-									RNA	SNP	ENST00000429810.2	37																																																																																						0.443	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			4	150	0	0	0	2.56e-06	0	4	150				
PRSS3P2	154754	broad.mit.edu	37	7	142481888	142481888	+	RNA	SNP	T	T	C	rs375829895		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142481888T>C	ENST00000603901.1	+	0	567					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TGGGCTTCCTTGAGGGAGGCA	0.522																																						ENST00000603901.1																			0																																																			0							g.chr7:142481888T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481888T>C								NR_001296.3						0	567	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		9	393	0	0	0	9.90768e-06	0	9	393				
PPAP2C	8612	broad.mit.edu	37	19	291323	291323	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:291323C>T	ENST00000269812.3	-	1	63	c.14G>A	c.(13-15)tGg>tAg	p.W5*	PPAP2C_ENST00000434325.2_Intron|PPAP2C_ENST00000327790.3_5'Flank	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	5					dephosphorylation (GO:0016311)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACGAAGACCCACCTCCGCTG	0.756																																						ENST00000269812.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5						c.(13-15)tGg>tAg		phosphatidic acid phosphatase type 2C							43.0	49.0	47.0					19																	291323		2177	4286	6463	SO:0001587	stop_gained	8612				sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity	g.chr19:291323C>T	AF035959	CCDS12023.1, CCDS12024.1, CCDS45889.1	19p13	2009-05-27				ENSG00000141934	3.1.3.4		9230	protein-coding gene	gene with protein product		607126				9570154, 9607309	Standard	NM_177543		Approved	PAP-2c, LPP2	uc002loh.3	O43688		ENST00000269812.3:c.14G>A	19.37:g.291323C>T	ENSP00000269812:p.Trp5*					PPAP2C_ENST00000434325.2_Intron	p.W5*	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	1	63	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	5					A6NLV0|E9PAY8	Nonsense_Mutation	SNP	ENST00000269812.3	37	c.14G>A	CCDS12023.1	.	.	.	.	.	.	.	.	.	.	c	36	5.704477	0.96812	.	.	ENSG00000141934	ENST00000269812	.	.	.	3.51	2.13	0.27403	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	6.8058	0.23777	0.0:0.8261:0.0:0.1739	.	.	.	.	X	5	.	ENSP00000269812:W5X	W	-	2	0	PPAP2C	242323	0.980000	0.34600	1.000000	0.80357	0.754000	0.42855	-0.025000	0.12413	1.497000	0.48584	0.289000	0.19496	TGG		0.756	PPAP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451777.2			40	160	0	0	0	2.47226e-05	0	40	160				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					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.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	214	0	0	0	1.12685e-05	0	8	214				
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C	rs202101890	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|RNA5SP333_ENST00000363466.1_RNA|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000528349.1_Intron			P0DJI9	SAA2_HUMAN	serum amyloid A2	102					acute-phase response (GO:0006953)	extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)		p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572																																						ENST00000526900.1																			2	Substitution - Missense(2)	p.K102E(2)	prostate(1)|central_nervous_system(1)	central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						c.(304-306)Aaa>Gaa		serum amyloid A2							93.0	83.0	86.0					11																	18266989		2199	4293	6492	SO:0001583	missense	6289							g.chr11:18266989T>C	M26152	CCDS7833.1, CCDS44548.1	11p15.1-p14	2008-07-21			ENSG00000134339	ENSG00000134339			10514	protein-coding gene	gene with protein product		104751				7686132	Standard	NM_030754		Approved			P0DJI9	OTTHUMG00000166484	ENST00000526900.1:c.304A>G	11.37:g.18266989T>C	ENSP00000436126:p.Lys102Glu					SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000530400.1_Intron	p.K102E							4	487	-								G3XAK9|P02735|P02736|P02737|Q16730|Q16834|Q16835|Q16879|Q3KRB3|Q6FG67|Q96QN0|Q9UCK9|Q9UCL0	Missense_Mutation	SNP	ENST00000526900.1	37	c.304A>G	CCDS7833.1	.	.	.	.	.	.	.	.	.	.	T	3.365	-0.129679	0.06753	.	.	ENSG00000134339	ENST00000256733;ENST00000529528;ENST00000526900	T;T;T	0.08720	3.06;3.06;3.06	5.01	-10.0	0.00425	.	1.240460	0.05687	N	0.591555	T	0.02193	0.0068	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41840	-0.9486	7	0.02654	T	1	.	8.2109	0.31483	0.0:0.2224:0.3585:0.4191	.	.	.	.	E	102	ENSP00000256733:K102E;ENSP00000437162:K102E;ENSP00000436126:K102E	ENSP00000256733:K102E	K	-	1	0	SAA2	18223565	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-3.966000	0.00324	-1.715000	0.01389	-0.147000	0.13772	AAA		0.572	SAA2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389983.1	NM_030754		7	329	0	0	0	5.50884e-06	0	7	329				
ERCC3	2071	broad.mit.edu	37	2	128046338	128046338	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:128046338C>A	ENST00000285398.2	-	7	1019	c.925G>T	c.(925-927)Gac>Tac	p.D309Y	ERCC3_ENST00000493187.2_Missense_Mutation_p.D245Y	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	309					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGCTTTAGGTCAATGTTGATA	0.493			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(733-735)Gac>Tac	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							256.0	258.0	257.0					2																	128046338		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046338C>A	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.925G>T	2.37:g.128046338C>A	ENSP00000285398:p.Asp309Tyr					ERCC3_ENST00000285398.2_Missense_Mutation_p.D309Y	p.D245Y			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	7	1196	-	Colorectal(110;0.1)		309					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.733G>T	CCDS2144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.993394|4.993394	0.93167|0.93167	.|.	.|.	ENSG00000163161|ENSG00000163161	ENST00000285398;ENST00000493187|ENST00000456257	T;T|.	0.37411|.	1.2;1.2|.	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76176|0.76176	0.3951|0.3951	M|M	0.70595|0.70595	2.14|2.14	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.74746|0.74746	-0.3561|-0.3561	10|5	0.87932|.	D|.	0|.	-21.8294|-21.8294	19.3996|19.3996	0.94623|0.94623	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309|.	P19447|.	ERCC3_HUMAN|.	Y|F	309;245|158	ENSP00000285398:D309Y;ENSP00000444796:D245Y|.	ENSP00000285398:D309Y|.	D|L	-|-	1|3	0|2	ERCC3|ERCC3	127762808|127762808	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	7.757000|7.757000	0.85209|0.85209	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GAC|TTG		0.493	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		14	1406	1	0	2.17888e-05	2.17888e-05	0.00576716	14	1406				
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	rs201055589		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63.0	41.0	49.0					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	302	0	0	0	3.59834e-05	0	5	302				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	259	0	0	0	2.0095e-06	0	6	259				
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C	rs528924232		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:53856761T>C	ENST00000595091.1	+	5	3052	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000458035.1_Missense_Mutation_p.C945R			Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					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.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348																																						ENST00000458035.1																			1	Substitution - Missense(1)	p.C945R(1)	kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2833-2835)Tgt>Cgt		zinc finger protein 845							25.0	23.0	24.0					19																	53856761		692	1590	2282	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856761T>C	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2833T>C	19.37:g.53856761T>C	ENSP00000470005:p.Cys945Arg					ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2950	+			945						Missense_Mutation	SNP	ENST00000595091.1	37	c.2833T>C	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	T	7.922	0.738844	0.15642	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	D	0.85258	-1.96	2.04	0.921	0.19403	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94417	0.8204	H	0.99336	4.52	0.38301	D	0.942985	D	0.89917	1.0	D	0.91635	0.999	D	0.91222	0.5007	9	0.66056	D	0.02	.	6.1858	0.20495	0.2258:0.0:0.0:0.7742	.	945	Q96IR2	ZN845_HUMAN	R	945;861	ENSP00000388311:C945R	ENSP00000412086:C861R	C	+	1	0	ZNF845	58548573	1.000000	0.71417	0.080000	0.20451	0.053000	0.15095	4.520000	0.60524	0.031000	0.15407	-0.871000	0.02989	TGT		0.348	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	194	0	0	0	5.18039e-06	0	7	194				
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473194	22473194	+	RNA	SNP	G	G	C	rs576463999		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:22473194G>C	ENST00000557788.2	-	0	76							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											TCCTGGGCCCGACTCCTGCAG	0.617																																						ENST00000557788.2																			0																																																			0							g.chr15:22473194G>C	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473194G>C														0	76	-									RNA	SNP	ENST00000557788.2	37																																																																																						0.617	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			9	955	0	0	0	2.27731e-05	0	9	955				
DCTN1	1639	broad.mit.edu	37	2	74597120	74597120	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:74597120C>T	ENST00000361874.3	-	13	1681	c.1364G>A	c.(1363-1365)cGc>cAc	p.R455H	DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000407639.2_Missense_Mutation_p.R321H|DCTN1_ENST00000409438.1_Missense_Mutation_p.R321H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R435H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R438H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R418H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R448H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	455					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCTCAACTCGCGCACTTTCTC	0.537																																						ENST00000361874.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(1363-1365)cGc>cAc		dynactin 1							159.0	133.0	142.0					2																	74597120		2203	4300	6503	SO:0001583	missense	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74597120C>T		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.1364G>A	2.37:g.74597120C>T	ENSP00000354791:p.Arg455His					DCTN1_ENST00000409438.1_Missense_Mutation_p.R321H|DCTN1_ENST00000409567.3_Missense_Mutation_p.R435H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R418H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R448H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R321H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R438H	p.R455H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN			13	1681	-			455					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Missense_Mutation	SNP	ENST00000361874.3	37	c.1364G>A	CCDS1939.1	.	.	.	.	.	.	.	.	.	.	C	34	5.327848	0.95733	.	.	ENSG00000204843	ENST00000361874;ENST00000394003;ENST00000393999;ENST00000407639;ENST00000409438;ENST00000409240;ENST00000409868;ENST00000409567	T;T;T;T;T;T;T	0.78707	-1.09;-1.09;-1.09;-1.09;-1.09;-1.2;-1.09	5.65	5.65	0.86999	.	0.000000	0.39615	N	0.001313	D	0.86062	0.5843	L	0.55834	1.745	0.80722	D	1	P;D;D;P;P;D	0.76494	0.745;0.999;0.999;0.522;0.678;0.999	B;P;D;B;B;D	0.78314	0.109;0.902;0.98;0.129;0.254;0.991	D	0.86070	0.1537	10	0.56958	D	0.05	-10.1178	18.4958	0.90864	0.0:1.0:0.0:0.0	.	435;418;455;448;321;321	E9PGE1;E9PFS5;Q14203;A8MY36;Q14203-2;G5E9H4	.;.;DCTN1_HUMAN;.;.;.	H	455;448;438;321;321;418;438;435	ENSP00000354791:R455H;ENSP00000377571:R448H;ENSP00000384844:R321H;ENSP00000387270:R321H;ENSP00000386406:R418H;ENSP00000387327:R438H;ENSP00000386843:R435H	ENSP00000354791:R455H	R	-	2	0	DCTN1	74450628	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.615000	0.83006	2.659000	0.90383	0.655000	0.94253	CGC		0.537	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082		114	382	0	0	0	2.47226e-05	0	114	382				
CELF3	11189	broad.mit.edu	37	1	151681757	151681757	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:151681757A>C	ENST00000290583.4	-	4	1138	c.345T>G	c.(343-345)ttT>ttG	p.F115L	CELF3_ENST00000392706.3_5'Flank|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|AL589765.1_ENST00000442233.2_5'Flank|CELF3_ENST00000290585.4_Missense_Mutation_p.F115L|RIIAD1_ENST00000326413.3_5'Flank	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	115	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CGAAGGGCTCAAACATCTTCC	0.617																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(343-345)ttT>ttG		CUGBP, Elav-like family member 3							224.0	211.0	216.0					1																	151681757		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151681757A>C	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.345T>G	1.37:g.151681757A>C	ENSP00000290583:p.Phe115Leu					CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F115L	p.F115L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			4	1138	-			115			RRM 2.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.345T>G	CCDS1002.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	18.12|18.12	3.553835|3.553835	0.65425|0.65425	.|.	.|.	ENSG00000159409|ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000368833|ENST00000420342	T;T|.	0.43294|.	0.95;0.95|.	4.39|4.39	-2.57|-2.57	0.06248|0.06248	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60521|0.60521	0.2275|0.2275	M|M	0.83774|0.83774	2.66|2.66	0.80722|0.80722	D|D	1|1	D;P;D;D;D|.	0.76494|.	0.977;0.945;0.999;0.985;0.981|.	D;P;D;P;P|.	0.87578|.	0.962;0.7;0.998;0.843;0.756|.	T|T	0.67345|0.67345	-0.5694|-0.5694	10|5	0.66056|.	D|.	0.02|.	-8.3106|-8.3106	9.4317|9.4317	0.38615|0.38615	0.5746:0.0:0.4254:0.0|0.5746:0.0:0.4254:0.0	.|.	115;115;114;115;114|.	Q5SZQ7;Q5SZQ8-2;F8W6B7;Q5SZQ8;Q5SZQ8-3|.	.;.;.;CELF3_HUMAN;.|.	L|W	115;115;114|116	ENSP00000290585:F115L;ENSP00000290583:F115L|.	ENSP00000290583:F115L|.	F|L	-|-	3|2	2|0	CELF3|CELF3	149948381|149948381	0.649000|0.649000	0.27322|0.27322	0.994000|0.994000	0.49952|0.49952	0.570000|0.570000	0.35934|0.35934	-0.097000|-0.097000	0.11042|0.11042	-0.328000|-0.328000	0.08539|0.08539	-0.624000|-0.624000	0.04008|0.04008	TTT|TTG		0.617	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		103	1159	0	0	0	2.47226e-05	0	103	1159				
TTN	7273	broad.mit.edu	37	2	179598237	179598237	+	Silent	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:179598237G>T	ENST00000591111.1	-	52	15056	c.14832C>A	c.(14830-14832)gcC>gcA	p.A4944A	TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.A4017A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.A5261A			Q8WZ42	TITIN_HUMAN	titin	12325	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGATTTTGGCAGGTTCTA	0.443																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(15781-15783)gcC>gcA		titin							217.0	219.0	219.0					2																	179598237		1928	4134	6062	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179598237G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14832C>A	2.37:g.179598237G>T						TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.A4017A|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Silent_p.A4944A|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	p.A5261A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		54	16007	-			4944			Ig-like 33.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.15783C>A																																																																																					0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	1193	1	0	1.3612e-06	2.31682e-05	0.000383534	14	1193				
MYCBP2	23077	broad.mit.edu	37	13	77672265	77672265	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:77672265G>T	ENST00000544440.2	-	56	8927	c.8910C>A	c.(8908-8910)ttC>ttA	p.F2970L	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000360084.5_Missense_Mutation_p.Q493K|MYCBP2_ENST00000407578.2_Missense_Mutation_p.F3008L|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F2970L					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CATCTCCTTTGAAAAGAAAAC	0.453																																						ENST00000407578.2																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(9022-9024)ttC>ttA		MYC binding protein 2, E3 ubiquitin protein ligase							89.0	90.0	90.0					13																	77672265		2203	4300	6503	SO:0001583	missense	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672265G>T	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8910C>A	13.37:g.77672265G>T	ENSP00000444596:p.Phe2970Leu					MYCBP2_ENST00000360084.5_Missense_Mutation_p.Q493K|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.F2970L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.F2970L	p.F3008L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	9290	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2970						Missense_Mutation	SNP	ENST00000544440.2	37	c.9024C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.246|6.246	0.413583|0.413583	0.11812|0.11812	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440|ENST00000360084	T;T;T|T	0.27402|0.37584	1.67;1.67;1.67|1.19	5.56|5.56	3.83|3.83	0.44106|0.44106	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.29126|0.29126	0.0724|0.0724	L|L	0.41236|0.41236	1.265|1.265	0.47183|0.47183	D|D	0.999341|0.999341	P;B;P|.	0.52170|.	0.951;0.367;0.924|.	P;B;P|.	0.60682|.	0.718;0.261;0.878|.	T|T	0.04825|0.04825	-1.0924|-1.0924	10|7	0.11485|0.02654	T|T	0.65|1	.|.	11.1986|11.1986	0.48728|0.48728	0.2057:0.0:0.7943:0.0|0.2057:0.0:0.7943:0.0	.|.	356;2970;2970|.	Q9UG08;O75592-2;O75592|.	.;.;MYCB2_HUMAN|.	L|K	2970;3008;2970|493	ENSP00000349892:F2970L;ENSP00000384288:F3008L;ENSP00000444596:F2970L|ENSP00000353197:Q493K	ENSP00000349892:F2970L|ENSP00000353197:Q493K	F|Q	-|-	3|1	2|0	MYCBP2|MYCBP2	76570266|76570266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	1.425000|1.425000	0.34859|0.34859	0.712000|0.712000	0.32039|0.32039	0.585000|0.585000	0.79938|0.79938	TTC|CAA		0.453	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057		10	601	1	0	3.07112e-06	3.07112e-06	0.000848892	10	601				
MUC21	394263	broad.mit.edu	37	6	30955234	30955234	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:30955234A>C	ENST00000376296.3	+	2	1523	c.1282A>C	c.(1282-1284)Acc>Ccc	p.T428P	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	428	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)				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						GTCCAGCACAACCTCCAGTGG	0.597																																						ENST00000376296.3																			0				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.(1282-1284)Acc>Ccc		mucin 21, cell surface associated							134.0	128.0	130.0					6																	30955234		2203	4300	6503	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955234A>C	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.1282A>C	6.37:g.30955234A>C	ENSP00000365473:p.Thr428Pro					MUC21_ENST00000486149.2_5'UTR	p.T428P	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1523	+			428			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1282A>C	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	a	11.69	1.712409	0.30322	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.11385	2.78	4.36	-4.11	0.03928	.	.	.	.	.	T	0.01800	0.0057	L	0.34521	1.04	0.09310	N	1	B	0.28233	0.204	B	0.29716	0.106	T	0.46512	-0.9186	9	0.25106	T	0.35	-1.8245	2.6533	0.05004	0.2809:0.1494:0.4241:0.1456	.	428	Q5SSG8	MUC21_HUMAN	P	278;428	ENSP00000365473:T428P	ENSP00000365473:T428P	T	+	1	0	MUC21	31063213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.082000	0.11304	-0.608000	0.05731	-1.031000	0.02408	ACC		0.597	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		7	363	0	0	0	3.45872e-05	0	7	363				
PSAT1	29968	broad.mit.edu	37	9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A	rs199619145		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						GTATTATTGCGCAAATGAGAC	0.463																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			1	Substitution - Missense(1)	p.A153T(1)	urinary_tract(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(457-459)Gca>Aca		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						334.0	308.0	317.0					9																	80921289		2203	4300	6503	SO:0001583	missense	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921289G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.457G>A	9.37:g.80921289G>A	ENSP00000365773:p.Ala153Thr					PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			5	525	+			153					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Missense_Mutation	SNP	ENST00000376588.3	37	c.457G>A	CCDS6660.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551918	0.27739	.	.	ENSG00000135069	ENST00000347159;ENST00000376588	T;T	0.62941	-0.01;-0.01	5.85	4.01	0.46588	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.261328	0.43747	D	0.000534	T	0.37598	0.1009	N	0.12746	0.255	0.48236	D	0.999615	P;B	0.37864	0.61;0.076	B;B	0.28139	0.086;0.034	T	0.16305	-1.0407	10	0.27785	T	0.31	-6.2508	11.7802	0.52010	0.0661:0.1237:0.8102:0.0	.	153;153	Q9Y617-2;Q9Y617	.;SERC_HUMAN	T	153	ENSP00000317606:A153T;ENSP00000365773:A153T	ENSP00000317606:A153T	A	+	1	0	PSAT1	80111109	1.000000	0.71417	0.699000	0.30290	0.814000	0.46013	5.862000	0.69560	0.820000	0.34516	0.655000	0.94253	GCA		0.463	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		11	1678	0	0	0	3.59834e-05	0	11	1678				
JADE2	23338	broad.mit.edu	37	5	133914244	133914244	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:133914244C>A	ENST00000282605.4	+	12	1828	c.1742C>A	c.(1741-1743)tCg>tAg	p.S581*	PHF15_ENST00000361895.2_Nonsense_Mutation_p.S538*|PHF15_ENST00000395003.1_Nonsense_Mutation_p.S537*|PHF15_ENST00000402835.1_3'UTR																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGCACAGTCGGTGCAGATC	0.607																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(1609-1611)tCg>tAg									113.0	110.0	111.0					5																	133914244		2203	4300	6503	SO:0001587	stop_gained	0				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914244C>A																												ENST00000282605.4:c.1742C>A	5.37:g.133914244C>A	ENSP00000282605:p.Ser581*					PHF15_ENST00000361895.2_Nonsense_Mutation_p.S538*|PHF15_ENST00000282605.4_Nonsense_Mutation_p.S581*|PHF15_ENST00000402835.1_3'UTR	p.S537*	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	1789	+			537						Nonsense_Mutation	SNP	ENST00000282605.4	37	c.1610C>A		.	.	.	.	.	.	.	.	.	.	c	38	7.004263	0.97994	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	.	.	.	5.07	5.07	0.68467	.	0.654761	0.14755	N	0.300363	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.4569	0.90724	0.0:1.0:0.0:0.0	.	.	.	.	X	581;597;581;538;538;537	.	ENSP00000282605:S581X	S	+	2	0	PHF15	133942143	1.000000	0.71417	0.926000	0.36857	0.861000	0.49209	5.489000	0.66875	2.367000	0.80283	0.306000	0.20318	TCG		0.607	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			8	553	1	0	3.86212e-05	3.86212e-05	0.0096937	8	553				
MAGI2	9863	broad.mit.edu	37	7	77797420	77797420	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:77797420C>A	ENST00000354212.4	-	15	2662	c.2409G>T	c.(2407-2409)ttG>ttT	p.L803F	MAGI2_ENST00000419488.1_Missense_Mutation_p.L789F|MAGI2_ENST00000522391.1_Missense_Mutation_p.L803F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	803	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CAGCTCCAATCAAAATCTAGA	0.458																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(2407-2409)ttG>ttT		membrane associated guanylate kinase, WW and PDZ domain containing 2							81.0	79.0	80.0					7																	77797420		2203	4300	6503	SO:0001583	missense	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77797420C>A	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.2409G>T	7.37:g.77797420C>A	ENSP00000346151:p.Leu803Phe					MAGI2_ENST00000419488.1_Missense_Mutation_p.L789F|MAGI2_ENST00000522391.1_Missense_Mutation_p.L803F	p.L803F	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			15	2662	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	803			PDZ 4.		A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Missense_Mutation	SNP	ENST00000354212.4	37	c.2409G>T	CCDS5594.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229530	0.39399	.	.	ENSG00000187391	ENST00000419488;ENST00000354212;ENST00000536298;ENST00000522391	T;T;T	0.24723	1.84;1.84;1.84	5.96	5.96	0.96718	PDZ/DHR/GLGF (4);	0.000000	0.29501	U	0.011973	T	0.23572	0.0570	N	0.10629	0.01	0.80722	D	1	P;P;D	0.58970	0.949;0.721;0.984	P;B;P	0.57846	0.776;0.287;0.828	T	0.04216	-1.0968	10	0.49607	T	0.09	.	8.9913	0.36026	0.0:0.7613:0.1607:0.078	.	803;789;803	E7EWI0;Q86UL8-2;Q86UL8	.;.;MAGI2_HUMAN	F	789;803;803;803	ENSP00000405766:L789F;ENSP00000346151:L803F;ENSP00000428389:L803F	ENSP00000346151:L803F	L	-	3	2	MAGI2	77635356	0.995000	0.38212	1.000000	0.80357	0.991000	0.79684	0.430000	0.21428	2.831000	0.97527	0.650000	0.86243	TTG		0.458	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		8	368	1	0	3.86212e-05	3.86212e-05	0.0096937	8	368				
SCRIB	23513	broad.mit.edu	37	8	144891881	144891881	+	Missense_Mutation	SNP	C	C	T	rs550678185	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:144891881C>T	ENST00000320476.3	-	14	1544	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.R432Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.R513Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	513	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCACTCAGCCGCTTCTCCTG	0.687													C|||	2	0.000399361	0.0	0.0	5008	,	,		15539	0.001		0.0	False		,,,				2504	0.001				Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1537-1539)cGg>cAg		scribbled planar cell polarity protein							34.0	30.0	32.0					8																	144891881		2200	4292	6492	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144891881C>T	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1538G>A	8.37:g.144891881C>T	ENSP00000322938:p.Arg513Gln					SCRIB_ENST00000320476.3_Missense_Mutation_p.R513Q|SCRIB_ENST00000377533.3_Missense_Mutation_p.R432Q	p.R513Q	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		14	1544	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		513			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1538G>A	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	c	13.82	2.351523	0.41700	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.78924	-1.22;-1.22;-1.22	4.54	3.64	0.41730	.	.	.	.	.	T	0.80649	0.4663	L	0.47716	1.5	0.46396	D	0.999022	D;D	0.76494	0.999;0.999	D;D	0.79784	0.984;0.993	T	0.74722	-0.3569	9	0.11485	T	0.65	.	11.3811	0.49757	0.0:0.9096:0.0:0.0904	.	513;513	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	513;513;432	ENSP00000349486:R513Q;ENSP00000322938:R513Q;ENSP00000366756:R432Q	ENSP00000322938:R513Q	R	-	2	0	SCRIB	144963869	1.000000	0.71417	0.892000	0.35008	0.125000	0.20455	4.335000	0.59298	2.249000	0.74217	0.401000	0.26515	CGG		0.687	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		59	253	0	0	0	2.47226e-05	0	59	253				
CLSTN3	9746	broad.mit.edu	37	12	7301731	7301731	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:7301731C>A	ENST00000266546.6	+	13	2461	c.2011C>A	c.(2011-2013)Caa>Aaa	p.Q671K	CLSTN3_ENST00000537408.1_Missense_Mutation_p.Q683K	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	671					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCTGATCTTCAAATCACCTG	0.562																																						ENST00000537408.1																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						c.(2047-2049)Caa>Aaa		calsyntenin 3							67.0	58.0	61.0					12																	7301731		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7301731C>A	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2011C>A	12.37:g.7301731C>A	ENSP00000266546:p.Gln671Lys					CLSTN3_ENST00000266546.6_Missense_Mutation_p.Q671K	p.Q683K			Q9BQT9	CSTN3_HUMAN			12	2585	+			671					D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2047C>A	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945190	0.34283	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.36699	1.24;1.24	5.71	5.71	0.89125	.	0.121175	0.56097	D	0.000022	T	0.18299	0.0439	N	0.04959	-0.14	0.46901	D	0.999246	B;B	0.12013	0.005;0.002	B;B	0.09377	0.002;0.004	T	0.12477	-1.0546	10	0.09590	T	0.72	-14.034	14.6704	0.68939	0.1452:0.8548:0.0:0.0	.	683;671	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	K	671;683	ENSP00000266546:Q671K;ENSP00000440679:Q683K	ENSP00000266546:Q671K	Q	+	1	0	CLSTN3	7192998	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	2.959000	0.49153	2.698000	0.92095	0.561000	0.74099	CAA		0.562	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		19	166	1	0	3.32936e-07	5.3912e-06	9.44176e-05	19	166				
ANKRD55	79722	broad.mit.edu	37	5	55407377	55407377	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:55407377G>T	ENST00000341048.4	-	10	1349	c.1198C>A	c.(1198-1200)Cag>Aag	p.Q400K	ANKRD55_ENST00000434982.2_Missense_Mutation_p.Q112K|ANKRD55_ENST00000504958.2_Missense_Mutation_p.Q357K|ANKRD55_ENST00000505970.2_5'Flank	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	400										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATAGCCACCTGATCACCAGGC	0.473																																						ENST00000341048.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34						c.(1198-1200)Cag>Aag		ankyrin repeat domain 55							243.0	234.0	237.0					5																	55407377		2203	4300	6503	SO:0001583	missense	79722							g.chr5:55407377G>T	AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1198C>A	5.37:g.55407377G>T	ENSP00000342295:p.Gln400Lys					ANKRD55_ENST00000504958.2_Missense_Mutation_p.Q357K|ANKRD55_ENST00000434982.2_Missense_Mutation_p.Q112K	p.Q400K	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN			10	1349	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)	399					B3KVT8|Q3KP45|Q9HAD3	Missense_Mutation	SNP	ENST00000341048.4	37	c.1198C>A	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	6.645	0.487476	0.12641	.	.	ENSG00000164512	ENST00000507283;ENST00000341048;ENST00000504958;ENST00000434982	T;T;T	0.38077	1.4;1.16;1.54	5.45	4.53	0.55603	.	0.406223	0.23720	N	0.045230	T	0.20088	0.0483	N	0.24115	0.695	0.09310	N	1	B;P	0.35844	0.146;0.524	B;B	0.28849	0.038;0.095	T	0.11012	-1.0605	10	0.26408	T	0.33	.	9.4516	0.38729	0.0744:0.0:0.6652:0.2604	.	400;399	B3KVT8;Q3KP44	.;ANR55_HUMAN	K	400;400;357;112	ENSP00000342295:Q400K;ENSP00000424230:Q357K;ENSP00000429421:Q112K	ENSP00000342295:Q400K	Q	-	1	0	ANKRD55	55443134	0.002000	0.14202	0.997000	0.53966	0.997000	0.91878	0.633000	0.24598	2.723000	0.93209	0.650000	0.86243	CAG		0.473	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4	NM_024669		11	940	1	0	3.86212e-05	3.86212e-05	0.0096937	11	940				
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1411							ion channel inhibitor activity (GO:0008200)	p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383																																						ENST00000456556.1																			9	Substitution - Missense(9)	p.H662R(6)|p.H1411R(3)	kidney(6)|lung(3)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4231-4233)cAt>cGt		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521777T>C	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4232A>G	2.37:g.96521777T>C	ENSP00000403302:p.His1411Arg					ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R	p.H1411R							63	4316	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4232A>G		.	.	.	.	.	.	.	.	.	.	t	1.211	-0.629664	0.03610	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.13196	2.61;2.61;2.61	1.87	0.665	0.17896	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.21071	0.051	B	0.15870	0.014	T	0.42666	-0.9438	9	0.15952	T	0.53	.	1.8453	0.03158	0.2739:0.1735:0.0:0.5526	.	1411	Q5JPF3	AN36C_HUMAN	R	662;1411;438	ENSP00000415231:H662R;ENSP00000403302:H1411R;ENSP00000407838:H438R	ENSP00000407838:H438R	H	-	2	0	AC073995.2	95885504	1.000000	0.71417	0.011000	0.14972	0.003000	0.03518	1.050000	0.30404	0.187000	0.20147	-0.818000	0.03119	CAT		0.383	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	114	0	0	0	1.23904e-05	0	4	114				
CEP192	55125	broad.mit.edu	37	18	13100331	13100331	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:13100331G>T	ENST00000325971.8	+	36	6496	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	CEP192_ENST00000430049.2_Missense_Mutation_p.D1756Y|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.D2231Y			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1635					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AATTCGAGAAGATTTAACTCA	0.338																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(6691-6693)Gat>Tat		centrosomal protein 192kDa							58.0	56.0	57.0					18																	13100331		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13100331G>T	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.4903G>T	18.37:g.13100331G>T	ENSP00000317156:p.Asp1635Tyr					CEP192_ENST00000325971.8_Missense_Mutation_p.D1635Y|CEP192_ENST00000430049.2_Missense_Mutation_p.D1756Y|CEP192_ENST00000540847.2_3'UTR	p.D2231Y	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			38	6771	+			1826					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.6691G>T		.	.	.	.	.	.	.	.	.	.	G	21.1	4.101103	0.76983	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.08458	3.09;3.09;3.1	5.52	5.52	0.82312	.	0.109070	0.64402	D	0.000005	T	0.29458	0.0734	M	0.68952	2.095	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.995;0.991;0.988;0.995	T	0.00337	-1.1807	10	0.87932	D	0	-25.0451	18.5764	0.91157	0.0:0.0:1.0:0.0	.	1756;2231;235;833	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	Y	2231;1635;1635;1756;235	ENSP00000427550:D2231Y;ENSP00000317156:D1635Y;ENSP00000389190:D1756Y	ENSP00000317156:D1635Y	D	+	1	0	CEP192	13090331	1.000000	0.71417	1.000000	0.80357	0.659000	0.38960	4.233000	0.58651	2.756000	0.94617	0.655000	0.94253	GAT		0.338	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		9	380	1	0	1.58986e-06	3.86212e-05	0.000445091	9	380				
SMAD4	4089	broad.mit.edu	37	18	48591891	48591891	+	Nonsense_Mutation	SNP	G	G	T	rs121912581		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:48591891G>T	ENST00000342988.3	+	9	1592	c.1054G>T	c.(1054-1056)Gga>Tga	p.G352*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	352	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		G -> R (in JP/HHT and JPS; dbSNP:rs121912581). {ECO:0000269|PubMed:12417513, ECO:0000269|PubMed:15031030}.		atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TACTGTTGATGGATACGTGGA	0.443																																						ENST00000342988.3																			38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454	GRCh37	CM024126	SMAD4	M	rs121912581	c.(1054-1056)Gga>Tga		SMAD family member 4							237.0	199.0	212.0					18																	48591891		2203	4300	6503	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591891G>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1054G>T	18.37:g.48591891G>T	ENSP00000341551:p.Gly352*					SMAD4_ENST00000588745.1_Nonsense_Mutation_p.G256*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.G352*	p.G352*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1592	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	352		G -> R (in JP/HHT and JPS).	MH2.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.1054G>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	43	10.484127	0.99413	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.86	5.86	0.93980	.	0.048668	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000341551:G352X	G	+	1	0	SMAD4	46845889	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.676000	0.98643	2.771000	0.95319	0.563000	0.77884	GGA		0.443	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		125	234	1	0	5.90297e-41	2.47226e-05	1.82837e-38	125	234				
VPS52	6293	broad.mit.edu	37	6	33235969	33235969	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:33235969C>A	ENST00000445902.2	-	8	934	c.716G>T	c.(715-717)cGa>cTa	p.R239L	VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R114L	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	239					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GATAAACTCTCGGATCTTCGT	0.498																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(715-717)cGa>cTa		vacuolar protein sorting 52 homolog (S. cerevisiae)							141.0	161.0	154.0					6																	33235969		1510	2709	4219	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33235969C>A	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.716G>T	6.37:g.33235969C>A	ENSP00000409952:p.Arg239Leu					VPS52_ENST00000436044.2_Missense_Mutation_p.R114L|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	p.R239L	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			8	934	-			239					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.716G>T	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	27.4	4.824488	0.90955	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.81307	0.4795	M	0.89353	3.025	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;D;D	0.74023	0.981;0.982;0.981	T	0.82619	-0.0368	9	0.49607	T	0.09	-7.6522	15.9168	0.79524	0.0:1.0:0.0:0.0	.	217;114;239	B4DS44;B3KMF7;Q8N1B4	.;.;VPS52_HUMAN	L	239;217;114	.	ENSP00000414785:R217L	R	-	2	0	VPS52	33343947	1.000000	0.71417	0.997000	0.53966	0.912000	0.54170	6.673000	0.74482	2.723000	0.93209	0.579000	0.79373	CGA		0.498	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		12	744	1	0	1.12685e-05	1.12685e-05	0.0030192	12	744				
RGPD4	285190	broad.mit.edu	37	2	108507185	108507185	+	Nonstop_Mutation	SNP	T	T	G	rs369515710		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:108507185T>G	ENST00000408999.3	+	23	5352	c.5275T>G	c.(5275-5277)Taa>Gaa	p.*1759E		NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	0					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGGTGAGGAATAAAATGCTTC	0.303																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(5275-5277)Taa>Gaa		RANBP2-like and GRIP domain containing 4							38.0	33.0	35.0					2																	108507185		692	1590	2282	SO:0001578	stop_lost	285190				intracellular transport		binding	g.chr2:108507185T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.5275T>G	2.37:g.108507185T>G	ENSP00000386810:p.*1759Gluext*20						p.*1759E	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			23	5352	+			0					B9A029	Nonstop_Mutation	SNP	ENST00000408999.3	37	c.5275T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	t	9.589	1.125643	0.20959	.	.	ENSG00000196862	ENST00000408999;ENST00000439322	.	.	.	0.7	0.7	0.18099	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8512	0.24016	0.0:0.0:0.7222:0.2778	.	.	.	.	E	1759;1126	.	.	X	+	1	0	RGPD4	107873617	1.000000	0.71417	0.989000	0.46669	0.362000	0.29581	3.187000	0.50950	-0.116000	0.11893	-1.681000	0.00736	TAA		0.303	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		4	216	0	0	0	1.23904e-05	0	4	216				
PRSS1	5644	broad.mit.edu	37	7	142458439	142458439	+	Missense_Mutation	SNP	T	T	C	rs564368252	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142458439T>C	ENST00000311737.7	+	2	80	c.74T>C	c.(73-75)gTt>gCt	p.V25A	PRSS1_ENST00000486171.1_Missense_Mutation_p.V25A	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	25	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GACAAGATCGTTGGGGGCTAC	0.547													T|||	2	0.000399361	0.0	0.0	5008	,	,		19800	0.0		0.0	False		,,,				2504	0.002					ENST00000486171.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38						c.(73-75)gTt>gCt		protease, serine, 1 (trypsin 1)							157.0	155.0	155.0					7																	142458439		2203	4300	6503	SO:0001583	missense	5644				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	g.chr7:142458439T>C	M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.74T>C	7.37:g.142458439T>C	ENSP00000308720:p.Val25Ala					PRSS1_ENST00000311737.7_Missense_Mutation_p.V25A	p.V25A			P07477	TRY1_HUMAN	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		2	91	+	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	25			Peptidase S1.		A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	c.74T>C	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	T	13.62	2.291402	0.40494	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243	D;D	0.94457	-3.43;-3.43	3.49	2.29	0.28610	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.057642	0.64402	D	0.000001	D	0.96457	0.8844	M	0.84773	2.715	0.42968	D	0.994423	P	0.38677	0.642	P	0.56960	0.81	D	0.95576	0.8642	10	0.87932	D	0	.	8.5187	0.33262	0.1739:0.0:0.0:0.8261	.	25	P07477	TRY1_HUMAN	A	25	ENSP00000417854:V25A;ENSP00000308720:V25A	ENSP00000308720:V25A	V	+	2	0	PRSS1	142138013	1.000000	0.71417	0.919000	0.36401	0.005000	0.04900	4.922000	0.63404	0.484000	0.27630	-0.794000	0.03295	GTT		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2			96	938	0	0	0	2.47226e-05	0	96	938				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		12	284	0	0	0	8.00594e-06	0	12	284				
GTF2A1	2957	broad.mit.edu	37	14	81646614	81646614	+	Nonsense_Mutation	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:81646614C>A	ENST00000553612.1	-	9	1487	c.1084G>T	c.(1084-1086)Gga>Tga	p.G362*	GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.G323*	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	362					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TAATCTCTTCCATTAAGATTC	0.269																																						ENST00000553612.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12						c.(1084-1086)Gga>Tga		general transcription factor IIA, 1, 19/37kDa							102.0	106.0	105.0					14																	81646614		2202	4298	6500	SO:0001587	stop_gained	2957				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|transcription factor TFIIA complex	DNA binding|protein binding|protein heterodimerization activity|TBP-class protein binding|transcription coactivator activity	g.chr14:81646614C>A	X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.1084G>T	14.37:g.81646614C>A	ENSP00000452454:p.Gly362*					GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.G323*	p.G362*	NM_015859.3	NP_056943.1	P52655	TF2AA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0287)	9	1487	-			362					Q3KNQ9	Nonsense_Mutation	SNP	ENST00000553612.1	37	c.1084G>T	CCDS9873.1	.	.	.	.	.	.	.	.	.	.	C	38	6.856852	0.97889	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	.	.	.	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-18.3478	19.7863	0.96440	0.0:1.0:0.0:0.0	.	.	.	.	X	362;323;323	.	ENSP00000298173:G362X	G	-	1	0	GTF2A1	80716367	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.665000	0.90641	0.655000	0.94253	GGA		0.269	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413309.1	NM_015859		10	1235	1	0	2.17888e-05	2.17888e-05	0.00576716	10	1235				
ZNF516	9658	broad.mit.edu	37	18	74154961	74154961	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr18:74154961G>A	ENST00000443185.2	-	3	367	c.50C>T	c.(49-51)cCc>cTc	p.P17L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	17					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGCCCTGGTGGGGCTGGGGCC	0.692																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(49-51)cCc>cTc		zinc finger protein 516							17.0	21.0	20.0					18																	74154961		1997	4158	6155	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154961G>A	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.50C>T	18.37:g.74154961G>A	ENSP00000394757:p.Pro17Leu					ZNF516_ENST00000524431.2_5'UTR	p.P17L	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	367	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	17						Missense_Mutation	SNP	ENST00000443185.2	37	c.50C>T		.	.	.	.	.	.	.	.	.	.	G	19.43	3.825265	0.71143	.	.	ENSG00000101493	ENST00000443185;ENST00000532857	T;T	0.11495	2.77;3.12	4.3	4.3	0.51218	.	0.095548	0.43919	D	0.000509	T	0.16514	0.0397	.	.	.	0.58432	D	0.999994	D	0.76494	0.999	D	0.64144	0.922	T	0.01757	-1.1280	9	0.02654	T	1	-13.6921	15.3131	0.74053	0.0:0.0:1.0:0.0	.	17	Q92618	ZN516_HUMAN	L	17	ENSP00000394757:P17L;ENSP00000446211:P17L	ENSP00000394757:P17L	P	-	2	0	ZNF516	72283949	1.000000	0.71417	0.992000	0.48379	0.981000	0.71138	5.885000	0.69736	2.106000	0.64143	0.561000	0.74099	CCC		0.692	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		21	51	0	0	0	1.64113e-05	0	21	51				
TAS1R2	80834	broad.mit.edu	37	1	19166741	19166741	+	Silent	SNP	C	C	T	rs112760365	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:19166741C>T	ENST00000375371.3	-	6	1893	c.1872G>A	c.(1870-1872)ccG>ccA	p.P624P		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	624					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AGACCTTGGGCGGCCCCACGT	0.617													C|||	2	0.000399361	0.0008	0.0	5008	,	,		16464	0.001		0.0	False		,,,				2504	0.0					ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1870-1872)ccG>ccA		taste receptor, type 1, member 2	Aspartame(DB00168)						72.0	72.0	72.0					1																	19166741		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166741C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1872G>A	1.37:g.19166741C>T							p.P624P	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1893	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	624					Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.1872G>A	CCDS187.1																																																																																				0.617	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			7	229	0	0	0	2.0095e-06	0	7	229				
SPPL2A	84888	broad.mit.edu	37	15	51012246	51012246	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:51012246T>C	ENST00000261854.5	-	14	1653	c.1379A>G	c.(1378-1380)aAg>aGg	p.K460R	SPPL2A_ENST00000559293.1_5'Flank	NM_032802.3	NP_116191.2	Q8TCT8	SPP2A_HUMAN	signal peptide peptidase like 2A	460					membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	extracellular vesicular exosome (GO:0070062)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		AGGTTGCCCCTTTTTCATCAG	0.408																																					Melanoma(50;790 1209 4069 22965 33125)	ENST00000261854.5																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1378-1380)aAg>aGg		signal peptide peptidase like 2A							128.0	111.0	117.0					15																	51012246		2196	4294	6490	SO:0001583	missense	84888					integral to membrane	aspartic-type endopeptidase activity	g.chr15:51012246T>C		CCDS10138.1	15q21.2	2012-02-21			ENSG00000138600	ENSG00000138600			30227	protein-coding gene	gene with protein product	"""intramembrane protease 3"", ""presenilin-like protein 2"""	608238				12077416, 12139484	Standard	NM_032802		Approved	IMP3, PSL2	uc001zyv.3	Q8TCT8	OTTHUMG00000131647	ENST00000261854.5:c.1379A>G	15.37:g.51012246T>C	ENSP00000261854:p.Lys460Arg						p.K460R	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN		all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)	14	1653	-			460					B2RDS0|Q8TAW1|Q96SZ8	Missense_Mutation	SNP	ENST00000261854.5	37	c.1379A>G	CCDS10138.1	.	.	.	.	.	.	.	.	.	.	T	5.356	0.250885	0.10130	.	.	ENSG00000138600	ENST00000261854	T	0.17054	2.3	5.66	4.52	0.55395	.	0.218396	0.51477	D	0.000088	T	0.06508	0.0167	N	0.04746	-0.17	0.20638	N	0.999871	P	0.41475	0.751	B	0.40982	0.345	T	0.14671	-1.0464	10	0.12766	T	0.61	-3.5127	1.9865	0.03437	0.2572:0.0784:0.1375:0.5268	.	460	Q8TCT8	PSL2_HUMAN	R	460	ENSP00000261854:K460R	ENSP00000261854:K460R	K	-	2	0	AC012100.1	48799538	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	2.041000	0.41213	0.955000	0.37878	0.477000	0.44152	AAG		0.408	SPPL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254543.3	NM_032802		5	433	0	0	0	3.59834e-05	0	5	433				
GLUD2	2747	broad.mit.edu	37	X	120182702	120182702	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:120182702G>T	ENST00000328078.1	+	1	1241	c.1164G>T	c.(1162-1164)ttG>ttT	p.L388F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	388					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGAAGCAGTTGACCAAATCCA	0.507																																						ENST00000328078.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						c.(1162-1164)ttG>ttT		glutamate dehydrogenase 2	L-Glutamic Acid(DB00142)|NADH(DB00157)						197.0	178.0	185.0					X																	120182702		2203	4300	6503	SO:0001583	missense	2747				glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	g.chrX:120182702G>T	U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.1164G>T	X.37:g.120182702G>T	ENSP00000327589:p.Leu388Phe						p.L388F	NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN			1	1241	+			388					B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	c.1164G>T	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866486	0.32977	.	.	ENSG00000182890	ENST00000328078	D	0.95918	-3.85	1.7	1.7	0.24286	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.95768	0.8623	M	0.81614	2.55	0.58432	D	0.999992	P	0.50443	0.935	P	0.52598	0.703	D	0.94935	0.8086	10	0.87932	D	0	-6.0469	9.0023	0.36090	0.0:0.0:1.0:0.0	.	388	P49448	DHE4_HUMAN	F	388	ENSP00000327589:L388F	ENSP00000327589:L388F	L	+	3	2	GLUD2	120010383	1.000000	0.71417	0.782000	0.31804	0.502000	0.33828	0.911000	0.28584	1.189000	0.43028	0.472000	0.43445	TTG		0.507	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084		18	1372	1	0	2.31682e-05	2.31682e-05	0.00609534	18	1372				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			9	692	0	0	0	2.17888e-05	0	9	692				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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		7	234	0	0	0	5.18039e-06	0	7	234				
ZNF462	58499	broad.mit.edu	37	9	109689499	109689499	+	Silent	SNP	A	A	C	rs368008742		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:109689499A>C	ENST00000277225.5	+	3	3595	c.3306A>C	c.(3304-3306)ccA>ccC	p.P1102P	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Silent_p.P1102P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1102					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACCCCCCCCACAACCCCCGC	0.527																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3304-3306)ccA>ccC		zinc finger protein 462							27.0	28.0	28.0					9																	109689499		2197	4296	6493	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689499A>C	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3306A>C	9.37:g.109689499A>C						ZNF462_ENST00000457913.1_Silent_p.P1102P	p.P1102P			Q96JM2	ZN462_HUMAN			3	3595	+			1102					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.3306A>C	CCDS35096.1																																																																																				0.527	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		9	169	0	0	0	2.90539e-05	0	9	169				
FAM8A1	51439	broad.mit.edu	37	6	17606158	17606158	+	Silent	SNP	G	G	C	rs201471025		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:17606158G>C	ENST00000259963.3	+	4	1066	c.1011G>C	c.(1009-1011)ggG>ggC	p.G337G		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	337	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			TCCTGCTGGGGCTTCGAGTTG	0.423																																						ENST00000259963.3																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(1009-1011)ggG>ggC		family with sequence similarity 8, member A1							136.0	123.0	127.0					6																	17606158		2203	4300	6503	SO:0001819	synonymous_variant	51439					integral to membrane		g.chr6:17606158G>C	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.1011G>C	6.37:g.17606158G>C							p.G337G	NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		4	1066	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	337			RDD.		B2R725	Silent	SNP	ENST00000259963.3	37	c.1011G>C	CCDS4540.1																																																																																				0.423	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1			7	324	0	0	0	3.86212e-05	0	7	324				
MANEA	79694	broad.mit.edu	37	6	96034881	96034881	+	Intron	SNP	A	A	G	rs148967607|rs112818736|rs3087829|rs78175628	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:96034881A>G	ENST00000358812.4	+	2	678				MANEA_ENST00000369293.1_Missense_Mutation_p.Y189C	NM_024641.3	NP_078917.2	Q5SRI9	MANEA_HUMAN	mannosidase, endo-alpha						cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		atatatatatatgtgtgtttg	0.299																																						ENST00000369293.1																			0				breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(565-567)tAt>tGt		mannosidase, endo-alpha							19.0	23.0	22.0					6																	96034881		1775	3309	5084	SO:0001627	intron_variant	79694				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity	g.chr6:96034881A>G	AK022900	CCDS5032.1	6q16.2	2008-02-05			ENSG00000172469	ENSG00000172469			21072	protein-coding gene	gene with protein product		612327					Standard	NM_024641		Approved	FLJ12838, mandaselin	uc003poo.2	Q5SRI9	OTTHUMG00000016296	ENST00000358812.4:c.544+22A>G	6.37:g.96034881A>G						MANEA_ENST00000358812.4_Intron	p.Y189C			Q5SRI9	MANEA_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.148)	2	700	+		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)	0			Catalytic (Probable).		A6H8M6|Q5SRJ0|Q6MZV0|Q70JE9|Q7Z3V7|Q8WWX5|Q9H9D2	Missense_Mutation	SNP	ENST00000358812.4	37	c.566A>G	CCDS5032.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.364|9.364	1.068802|1.068802	0.20147|0.20147	.|.	.|.	ENSG00000172469|ENSG00000172469	ENST00000542500|ENST00000369293	.|.	.|.	.|.	4.95|4.95	-8.6|-8.6	0.00889|0.00889	.|.	.|.	.|.	.|.	.|.	T|T	0.08358|0.08358	0.0208|0.0208	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.35674|0.35674	-0.9779|-0.9779	5|7	0.54805|0.87932	T|D	0.06|0	.|.	1.4227|1.4227	0.02315|0.02315	0.423:0.1013:0.1449:0.3308|0.423:0.1013:0.1449:0.3308	.|.	.|189	.|Q8WWX4	.|.	M|C	188|189	.|.	ENSP00000439775:I188M|ENSP00000358299:Y189C	I|Y	+|+	3|2	3|0	MANEA|MANEA	96141602|96141602	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.756000|-0.756000	0.04777|0.04777	-1.110000|-1.110000	0.02992|0.02992	-1.592000|-1.592000	0.00843|0.00843	ATA|TAT		0.299	MANEA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043644.1	NM_024641		5	182	0	0	0	3.59834e-05	0	5	182				
KDM5B	10765	broad.mit.edu	37	1	202724554	202724554	+	Missense_Mutation	SNP	C	C	A	rs76768289		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:202724554C>A	ENST00000367265.3	-	11	2547	c.1383G>T	c.(1381-1383)ttG>ttT	p.L461F	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	461	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GCATGTTGTTCAAATTCCAGC	0.378																																						ENST00000367265.3																			0				breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						c.(1381-1383)ttG>ttT		lysine (K)-specific demethylase 5B							95.0	101.0	99.0					1																	202724554		2203	4300	6503	SO:0001583	missense	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202724554C>A	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1383G>T	1.37:g.202724554C>A	ENSP00000356234:p.Leu461Phe					KDM5B_ENST00000367264.2_Missense_Mutation_p.L497F|KDM5B_ENST00000456180.1_5'UTR	p.L461F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN			11	2547	-			461			JmjC.		O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	c.1383G>T	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700822	0.68501	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264;ENST00000235790	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	4.82	0.62117	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.93328	3.405	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.91635	0.961;0.999	D	0.88022	0.2769	10	0.87932	D	0	-12.7178	9.1277	0.36826	0.0:0.7688:0.0:0.2312	.	497;461	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	F	461;303;497;303	ENSP00000356234:L461F;ENSP00000356233:L497F;ENSP00000235790:L303F	ENSP00000235790:L303F	L	-	3	2	KDM5B	200991177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.022000	0.41030	1.425000	0.47237	0.655000	0.94253	TTG		0.378	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618		19	634	1	0	5.35356e-11	4.16121e-05	1.59052e-08	19	634				
TRPM3	80036	broad.mit.edu	37	9	73151012	73151012	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:73151012C>T	ENST00000377110.3	-	25	5224	c.4981G>A	c.(4981-4983)Gac>Aac	p.D1661N	TRPM3_ENST00000377105.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1520N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1533N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1688N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1523N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1665N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1523N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1510N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1533N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1686					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CGCTGCCTGTCGAGTTTGTCA	0.582																																						ENST00000377110.2																			0				NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						c.(4981-4983)Gac>Aac		transient receptor potential cation channel, subfamily M, member 3							241.0	226.0	231.0					9																	73151012		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151012C>T	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377110.3:c.4981G>A	9.37:g.73151012C>T	ENSP00000366314:p.Asp1661Asn					TRPM3_ENST00000396280.5_Missense_Mutation_p.D1510N|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1523N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1523N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1533N|TRPM3_ENST00000357533.2_Missense_Mutation_p.D1665N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1688N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1520N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1533N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1520N	p.D1661N	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	5224	-			1686					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4981G>A	CCDS43835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.3|21.3	4.124476|4.124476	0.77436|0.77436	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T|.	0.56275|.	0.54;0.5;0.5;0.47;0.54;0.47;0.5;0.5;0.5;0.54|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.105878|.	0.64402|.	D|.	0.000005|.	T|T	0.58424|0.58424	0.2121|0.2121	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999996|0.999996	B;B;P;P;B;P;B|.	0.43352|.	0.33;0.37;0.804;0.509;0.33;0.641;0.222|.	B;B;B;B;B;B;B|.	0.27170|.	0.072;0.048;0.077;0.031;0.068;0.068;0.031|.	T|T	0.50988|0.50988	-0.8762|-0.8762	10|5	0.40728|.	T|.	0.16|.	-25.7037|-25.7037	19.9981|19.9981	0.97395|0.97395	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1661;1651;1665;1523;1520;1633;1520|.	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.|.	N|Q	1661;1533;1523;1520;1665;1520;1520;1533;1523;1688|1509	ENSP00000366314:D1661N;ENSP00000366310:D1533N;ENSP00000354066:D1523N;ENSP00000366309:D1520N;ENSP00000350140:D1665N;ENSP00000386127:D1520N;ENSP00000379581:D1520N;ENSP00000379587:D1533N;ENSP00000350791:D1523N;ENSP00000389542:D1688N|.	ENSP00000350140:D1665N|.	D|R	-|-	1|2	0|0	TRPM3|TRPM3	72340832|72340832	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.883000|0.883000	0.51084|0.51084	7.263000|7.263000	0.78421|0.78421	2.729000|2.729000	0.93468|0.93468	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.582	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		11	1233	0	0	0	1.12685e-05	0	11	1233				
SLCO1B3	28234	broad.mit.edu	37	12	21054322	21054322	+	Missense_Mutation	SNP	G	G	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:21054322G>T	ENST00000381545.3	+	15	2005	c.1786G>T	c.(1786-1788)Gat>Tat	p.D596Y	SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596Y|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.D596Y|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	596					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)	p.D596N(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	GGCTCTGATTGATAAAACATG	0.378																																						ENST00000381545.3																			1	Substitution - Missense(1)	p.D596N(1)	lung(1)	breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(1786-1788)Gat>Tat		solute carrier organic anion transporter family, member 1B3							183.0	177.0	179.0					12																	21054322		2203	4300	6503	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21054322G>T		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.1786G>T	12.37:g.21054322G>T	ENSP00000370956:p.Asp596Tyr					SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D596Y|LST3_ENST00000540229.1_Missense_Mutation_p.D596Y|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.D596Y|LST3_ENST00000381541.3_Intron	p.D596Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN			15	2005	+	Esophageal squamous(101;0.149)		596					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.1786G>T	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	.	18.03	3.532134	0.64972	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046	ENST00000261196;ENST00000381545;ENST00000553473;ENST00000544370;ENST00000540229	T;T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79;-0.79	4.53	4.53	0.55603	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90143	0.6920	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93337	0.6706	10	0.87932	D	0	.	16.3829	0.83481	0.0:0.0:1.0:0.0	.	596;596;596	Q5JAR4;B3KP78;Q9NPD5	.;.;SO1B3_HUMAN	Y	596;596;596;420;596	ENSP00000261196:D596Y;ENSP00000370956:D596Y;ENSP00000451758:D596Y;ENSP00000443225:D420Y;ENSP00000441269:D596Y	ENSP00000441269:D596Y	D	+	1	0	SLCO1B3;RP11-545J16.1	20945589	1.000000	0.71417	0.991000	0.47740	0.756000	0.42949	7.840000	0.86819	2.213000	0.71641	0.313000	0.20887	GAT		0.378	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	NM_019844		144	461	1	0	8.63352e-77	2.47226e-05	2.69323e-74	144	461				
PITPNM2	57605	broad.mit.edu	37	12	123480179	123480179	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:123480179A>G	ENST00000542749.1	-	12	1874	c.1811T>C	c.(1810-1812)cTg>cCg	p.L604P	PITPNM2_ENST00000392428.1_Missense_Mutation_p.L325P|PITPNM2_ENST00000320201.4_Missense_Mutation_p.L604P|PITPNM2_ENST00000280562.5_Missense_Mutation_p.L604P			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	604					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGCATTCATCAGGATGCCCGG	0.672																																						ENST00000280562.5																			0				NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39						c.(1810-1812)cTg>cCg		phosphatidylinositol transfer protein, membrane-associated 2							28.0	20.0	23.0					12																	123480179		2202	4299	6501	SO:0001583	missense	57605				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding	g.chr12:123480179A>G	AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.1811T>C	12.37:g.123480179A>G	ENSP00000437611:p.Leu604Pro					PITPNM2_ENST00000392428.1_Missense_Mutation_p.L325P|PITPNM2_ENST00000320201.4_Missense_Mutation_p.L604P|PITPNM2_ENST00000542749.1_Missense_Mutation_p.L604P	p.L604P			Q9BZ72	PITM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)	13	2016	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		604					Q9P271	Missense_Mutation	SNP	ENST00000542749.1	37	c.1811T>C	CCDS9242.1	.	.	.	.	.	.	.	.	.	.	A	7.514	0.655371	0.14580	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.47528	1.16;1.16;0.84;1.16	4.83	2.46	0.29980	.	1.317200	0.05113	N	0.489206	T	0.38026	0.1025	L	0.29908	0.895	0.50813	D	0.999895	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.0	T	0.08764	-1.0706	10	0.52906	T	0.07	-2.8824	7.1979	0.25864	0.7029:0.0:0.2971:0.0	.	604;604	Q9BZ72-2;Q9BZ72	.;PITM2_HUMAN	P	604;604;325;604	ENSP00000280562:L604P;ENSP00000322218:L604P;ENSP00000376223:L325P;ENSP00000437611:L604P	ENSP00000280562:L604P	L	-	2	0	PITPNM2	122046132	1.000000	0.71417	0.067000	0.19924	0.223000	0.24884	2.220000	0.42908	0.223000	0.20920	0.459000	0.35465	CTG		0.672	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401342.1	NM_020845		4	91	0	0	0	1.23904e-05	0	4	91				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			6	163	0	0	0	3.07112e-06	0	6	163				
TRAK1	22906	broad.mit.edu	37	3	42251664	42251664	+	Intron	SNP	C	C	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:42251664C>A	ENST00000327628.5	+	14	2363				TRAK1_ENST00000341421.3_Missense_Mutation_p.A659E|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000396175.1_Intron	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1						endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TTCCCGGAGGCAGAGTTTTGG	0.577																																					GBM(44;195 884 22595 31865 41850)	ENST00000341421.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						c.(1975-1977)gCa>gAa		trafficking protein, kinesin binding 1							224.0	240.0	235.0					3																	42251664		2203	4300	6503	SO:0001627	intron_variant	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42251664C>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.1963+187C>A	3.37:g.42251664C>A						TRAK1_ENST00000396175.1_Intron|TRAK1_ENST00000487159.1_Intron|TRAK1_ENST00000327628.5_Intron	p.A659E	NM_001265608.1|NM_014965.4	NP_001252537.1|NP_055780.2	Q9UPV9	TRAK1_HUMAN			13	2169	+			0					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.1976C>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.566527	0.45694	.	.	ENSG00000182606	ENST00000341421	T	0.09723	2.95	5.11	4.22	0.49857	.	.	.	.	.	T	0.06280	0.0162	N	0.14661	0.345	0.20307	N	0.999916	.	.	.	.	.	.	T	0.32241	-0.9914	6	.	.	.	.	4.2065	0.10491	0.213:0.632:0.0:0.1549	.	.	.	.	E	659	ENSP00000340702:A659E	.	A	+	2	0	TRAK1	42226668	1.000000	0.71417	0.444000	0.26895	0.998000	0.95712	1.881000	0.39638	2.525000	0.85131	0.655000	0.94253	GCA		0.577	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965		296	956	1	0	8.94258e-86	2.47226e-05	2.80971e-83	296	956				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		6	285	0	0	0	3.86212e-05	0	6	285				
PRAMEF2	65122	broad.mit.edu	37	1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	rs143742734	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(1195-1197)cGc>cAc		PRAME family member 2		G	HIS/ARG	1,4403	2.1+/-5.4	0,1,2201	70.0	73.0	72.0		1196	-1.6	0.0	1	dbSNP_134	72	1,8591	2.2+/-6.3	0,1,4295	no	missense	PRAMEF2	NM_023014.1	29	0,2,6496	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	399/475	12921405	2,12994	2202	4296	6498	SO:0001583	missense	65122							g.chr1:12921405G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.1196G>A	1.37:g.12921405G>A	ENSP00000240189:p.Arg399His						p.R399H	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	4	1283	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	399						Missense_Mutation	SNP	ENST00000240189.2	37	c.1196G>A	CCDS149.1	.	.	.	.	.	.	.	.	.	.	G	0.430	-0.903719	0.02453	2.27E-4	1.16E-4	ENSG00000120952	ENST00000240189	T	0.49432	0.78	0.824	-1.65	0.08291	.	1.555060	0.04295	N	0.346332	T	0.30634	0.0771	L	0.31578	0.945	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.08330	-1.0727	10	0.13470	T	0.59	.	4.0967	0.09995	0.6152:0.0:0.3848:0.0	.	399	O60811	PRAM2_HUMAN	H	399	ENSP00000240189:R399H	ENSP00000240189:R399H	R	+	2	0	PRAMEF2	12843992	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.445000	0.02401	-0.729000	0.04875	-1.252000	0.01501	CGC		0.557	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		7	352	0	0	0	1.8613e-05	0	7	352				
TUBB8	347688	broad.mit.edu	37	10	93379	93379	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:93379C>T	ENST00000309812.4	-	4	1015	c.953G>A	c.(952-954)aGg>aAg	p.R318K	TUBB8_ENST00000447903.2_Missense_Mutation_p.R246K|TUBB8_ENST00000413237.3_5'Flank	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	318					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGCGACCCCTGAAAATGGC	0.512																																					Pancreas(192;2041 3010 9013 18103)	ENST00000447903.2																			0				NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32						c.(736-738)aGg>aAg		tubulin, beta 8 class VIII							53.0	65.0	61.0					10																	93379		2063	4015	6078	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93379C>T	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.953G>A	10.37:g.93379C>T	ENSP00000311042:p.Arg318Lys					TUBB8_ENST00000309812.4_Missense_Mutation_p.R318K	p.R246K			Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	1052	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	318					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.737G>A	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	8.893	0.954474	0.18431	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.83591	-1.74	.	.	.	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.56097	U	0.000030	T	0.74245	0.3691	N	0.03608	-0.345	0.29492	N	0.855587	B;P	0.40476	0.164;0.718	B;P	0.59171	0.123;0.853	T	0.68977	-0.5267	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	281;318	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	K	246;284;281;318	ENSP00000403895:R246K	ENSP00000272035:R284K	R	-	2	0	RP11-631M21.2	83379	0.996000	0.38824	0.111000	0.21465	0.112000	0.19704	5.248000	0.65421	0.119000	0.18210	0.121000	0.15741	AGG		0.512	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		9	782	0	0	0	2.17888e-05	0	9	782				
FAM19A2	338811	broad.mit.edu	37	12	62147455	62147455	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:62147455G>A	ENST00000416284.3	-	4	1916	c.332C>T	c.(331-333)cCg>cTg	p.P111L	FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000551619.1_Missense_Mutation_p.P111L|FAM19A2_ENST00000550003.1_Missense_Mutation_p.P14L	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	111						cytoplasm (GO:0005737)				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		TTTCCGATCCGGAAGAACTTT	0.408																																						ENST00000416284.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15						c.(331-333)cCg>cTg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A2							126.0	114.0	118.0					12																	62147455		2203	4300	6503	SO:0001583	missense	338811					cytoplasm		g.chr12:62147455G>A	AY325115	CCDS8962.1	12q14.1	2012-10-03			ENSG00000198673	ENSG00000198673			21589	protein-coding gene	gene with protein product						15028294	Standard	NM_178539		Approved	TAFA-2	uc001sqw.3	Q8N3H0	OTTHUMG00000170207	ENST00000416284.3:c.332C>T	12.37:g.62147455G>A	ENSP00000393987:p.Pro111Leu					FAM19A2_ENST00000550003.1_Missense_Mutation_p.P14L|FAM19A2_ENST00000551619.1_Missense_Mutation_p.P111L|FAM19A2_ENST00000551449.1_Intron	p.P111L	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)	4	1916	-			111					B3KVV4|Q4G0R9|Q68DK0|Q6GTX6	Missense_Mutation	SNP	ENST00000416284.3	37	c.332C>T	CCDS8962.1	.	.	.	.	.	.	.	.	.	.	G	19.58	3.853912	0.71719	.	.	ENSG00000198673	ENST00000416284;ENST00000551619;ENST00000550003	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.78246	0.4253	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79147	-0.1923	8	.	.	.	.	17.5418	0.87850	0.0:0.0:1.0:0.0	.	111	Q8N3H0	F19A2_HUMAN	L	111;111;14	.	.	P	-	2	0	FAM19A2	60433722	1.000000	0.71417	0.906000	0.35671	0.885000	0.51271	9.689000	0.98673	2.145000	0.66743	0.557000	0.71058	CCG		0.408	FAM19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407967.2	NM_178539		10	465	0	0	0	2.17888e-05	0	10	465				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	688	0	0	0	2.17888e-05	0	5	688				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			7	666	0	0	0	1.12685e-05	0	7	666				
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:21606712T>C	ENST00000355504.4	+	2	1133	c.867T>C	c.(865-867)tcT>tcC	p.S289S	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Silent_p.S417S	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					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)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1249-1251)tcT>tcC		zinc finger protein 493							34.0	37.0	36.0					19																	21606712		2198	4293	6491	SO:0001819	synonymous_variant	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606712T>C	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.867T>C	19.37:g.21606712T>C						CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Silent_p.S289S	p.S417S	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	1360	+			289					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	c.1251T>C	CCDS12412.1																																																																																				0.348	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		9	397	0	0	0	1.12685e-05	0	9	397				
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128735T>C																													17.37:g.45128735T>C														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	602	0	0	0	1.12685e-05	0	7	602				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		9	346	0	0	0	3.07112e-06	0	9	346				
GGT3P	2679	broad.mit.edu	37	22	18769145	18769145	+	RNA	SNP	G	G	A	rs200209148	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr22:18769145G>A	ENST00000412448.1	-	0	1141							A6NGU5	GGT3_HUMAN	gamma-glutamyltransferase 3 pseudogene						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)										TGAGGCTGCCGTTGTAGAAGG	0.612																																						ENST00000412448.1																			0																																																			0							g.chr22:18769145G>A			22q11.21	2008-08-05	2008-03-10	2008-03-10	ENSG00000197421	ENSG00000197421		"""Gamma-glutamyltransferases"""	4252	pseudogene	pseudogene			"""gamma-glutamyltransferase 3"""	GGT3		8104871, 18357469	Standard	NR_003267		Approved		uc002zob.1	A6NGU5	OTTHUMG00000150161		22.37:g.18769145G>A														0	1141	-									RNA	SNP	ENST00000412448.1	37																																																																																						0.612	GGT3P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341281.1	NR_003267		14	95	0	0	0	2.31682e-05	0	14	95				
HTR1A	3350	broad.mit.edu	37	5	63257207	63257207	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:63257207C>T	ENST00000323865.3	-	1	573	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	114	Agonist binding. {ECO:0000250}.				adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	ACGTCGAGGGCGATGAACAGG	0.607																																						ENST00000323865.3																			0				cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(340-342)Gcc>Acc		5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						69.0	63.0	65.0					5																	63257207		2202	4300	6502	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257207C>T	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.340G>A	5.37:g.63257207C>T	ENSP00000316244:p.Ala114Thr					RP11-158J3.2_ENST00000502882.1_RNA	p.A114T	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	573	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	114					Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.340G>A	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747595	0.49257	.	.	ENSG00000178394	ENST00000323865	T	0.37752	1.18	5.12	1.64	0.23874	GPCR, rhodopsin-like superfamily (1);	0.060603	0.64402	D	0.000002	T	0.22044	0.0531	N	0.25426	0.745	0.41085	D	0.985551	P	0.41848	0.763	B	0.35655	0.207	T	0.03148	-1.1067	10	0.26408	T	0.33	.	12.99	0.58614	0.752:0.2479:0.0:0.0	.	114	P08908	5HT1A_HUMAN	T	114	ENSP00000316244:A114T	ENSP00000316244:A114T	A	-	1	0	HTR1A	63292963	0.996000	0.38824	0.989000	0.46669	0.928000	0.56348	2.510000	0.45468	0.399000	0.25367	0.561000	0.74099	GCC		0.607	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		15	81	0	0	0	1.49906e-05	0	15	81				
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:8716284_8716285delTC	ENST00000337907.3	-	3	706_707	c.72_73delGA	c.(70-75)gagaaafs	p.K25fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.K25fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.K25fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	25					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505																																						ENST00000337907.3																			0				central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(70-75)gaaafs		arginine-glutamic acid dipeptide (RE) repeats																																				SO:0001589	frameshift_variant	473				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:8716284_8716285delTC	AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.72_73delGA	1.37:g.8716294_8716295delTC	ENSP00000338629:p.Lys25fs					RERE_ENST00000400907.2_Frame_Shift_Del_p.EK24fs|RERE_ENST00000400908.2_Frame_Shift_Del_p.EK24fs	p.EK24fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)	3	706_707	-	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	24					O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Frame_Shift_Del	DEL	ENST00000337907.3	37	c.72_73delGA	CCDS95.1																																																																																				0.505	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1			13	653						13	653	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		7	245						7	245	---	---	---	---
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Intron	DEL	TG	TG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:32670247_32670248delTG	ENST00000373602.5	+	5	895				CCDC28B_ENST00000421922.2_Frame_Shift_Del_p.C192fs|IQCC_ENST00000291358.6_5'Flank|CCDC28B_ENST00000483009.1_Intron|IQCC_ENST00000537469.1_5'Flank|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_024296.3	NP_077272.2	Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B						cilium assembly (GO:0042384)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5																																						ENST00000421922.2																			0				large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(574-576)tfs		coiled-coil domain containing 28B																																				SO:0001627	intron_variant	79140							g.chr1:32670247_32670248delTG	BC022848	CCDS354.2, CCDS72749.1	1p36.11-p34.2	2008-02-05			ENSG00000160050	ENSG00000160050			28163	protein-coding gene	gene with protein product		610162				16327777	Standard	XM_006710892		Approved	MGC1203, RP4-622L5.5	uc001bul.1	Q9BUN5	OTTHUMG00000005738	ENST00000373602.5:c.548+26TG>-	1.37:g.32670255_32670256delTG						CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron	p.C192fs			Q9BUN5	CC28B_HUMAN			5	674_675	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)	0					A8K789|Q8TBV8	Frame_Shift_Del	DEL	ENST00000373602.5	37	c.574_575delTG	CCDS354.2																																																																																				0.500	CCDC28B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015723.4	NM_024296		9	1150						9	1150	---	---	---	---
ZMYM4	9202	broad.mit.edu	37	1	35846959	35846960	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:35846959_35846960insA	ENST00000314607.6	+	8	1361_1362	c.1281_1282insA	c.(1282-1284)aaafs	p.K428fs	ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.K428fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	428					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATATGAACTGAAAAAAAAACC	0.342																																						ENST00000314607.6																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54						c.(1279-1284)ctaaaafs		zinc finger, MYM-type 4																																				SO:0001589	frameshift_variant	9202				multicellular organismal development		DNA binding|zinc ion binding	g.chr1:35846959_35846960insA	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.1290dupA	1.37:g.35846968_35846968dupA	ENSP00000322915:p.Lys428fs					ZMYM4_ENST00000373297.2_Frame_Shift_Ins_p.LK427fs	p.LK427fs	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN			8	1361_1362	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	427					A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Frame_Shift_Ins	INS	ENST00000314607.6	37	c.1281_1282insA	CCDS389.1																																																																																				0.342	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095		8	506						8	506	---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40756542	40756543	+	Frame_Shift_Ins	INS	-	-	T	rs553349565|rs137854889		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:40756542_40756543insT	ENST00000372759.3	+	9	1241_1242	c.1076_1077insT	c.(1075-1080)tgttttfs	p.CF359fs		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	359					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TCTTTCCTGTGTTTTTTTTTAT	0.332																																						ENST00000372759.3																			0				endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16						c.(1075-1077)tttfs		zinc metallopeptidase STE24				1,4261		0,1,2130				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		5.3	1.0		dbSNP_133	135	3,8249		0,3,4123	no	frameshift	ZMPSTE24	NM_005857.3		0,4,6253	A1A1,A1R,RR		0.0364,0.0235,0.032				4,12510				SO:0001589	frameshift_variant	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40756542_40756543insT	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.1085dupT	1.37:g.40756551_40756551dupT	ENSP00000361845:p.Cys359fs						p.F359fs	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		9	1241_1242	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	359					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Frame_Shift_Ins	INS	ENST00000372759.3	37	c.1076_1077insT	CCDS449.1																																																																																				0.332	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			7	352						7	352	---	---	---	---
IPP	3652	broad.mit.edu	37	1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-	rs144663569		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347																																						ENST00000396478.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20						c.(1162-1164)tfs		intracisternal A particle-promoted polypeptide																																				SO:0001589	frameshift_variant	3652					actin cytoskeleton|cytoplasm	actin binding	g.chr1:46184897_46184898delAC	BC032544	CCDS30702.1, CCDS44132.1	1p34-p32	2013-01-30			ENSG00000197429	ENSG00000197429		"""Kelch-like"", ""BTB/POZ domain containing"""	6108	protein-coding gene	gene with protein product	"""kelch-like family member 27"""	147485				1905535, 8432546	Standard	NM_005897		Approved	KLHL27	uc001cou.3	Q9Y573	OTTHUMG00000008004	ENST00000396478.3:c.1163_1164delGT	1.37:g.46184907_46184908delAC	ENSP00000379739:p.Cys388fs						p.C388fs	NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN			6	1265_1266	-	Acute lymphoblastic leukemia(166;0.155)		388					A2A6V4|D3DQ11|Q8N5C3	Frame_Shift_Del	DEL	ENST00000396478.3	37	c.1163_1164delGT	CCDS30702.1																																																																																				0.347	IPP-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021974.3	NM_005897		8	393						8	393	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116645	121116645	+	lincRNA	DEL	T	T	-	rs377003181		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:121116645delT	ENST00000437515.1	-	0	329					NR_104189.1																						CAAGCCCCCCTTTAAAAAAAA	0.393																																						ENST00000437515.1																			0																																																			0							g.chr1:121116645delT																													1.37:g.121116645delT														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.393	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			7	250						7	250	---	---	---	---
SRGAP2-AS1	100873165	broad.mit.edu	37	1	121116648	121116648	+	lincRNA	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:121116648delA	ENST00000437515.1	-	0	329					NR_104189.1																						GCCCCCCTTTAAAAAAAAAGG	0.398																																						ENST00000437515.1																			0																																																			0							g.chr1:121116648delA																													1.37:g.121116648delA														0	329	-									RNA	DEL	ENST00000437515.1	37																																																																																						0.398	RP11-343N15.1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098477.2			8	256						8	256	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		10	140						10	140	---	---	---	---
POLR3GL	84265	broad.mit.edu	37	1	145457040	145457042	+	In_Frame_Del	DEL	TCT	TCT	-	rs587765256		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:145457040_145457042delTCT	ENST00000369314.1	-	7	625_627	c.519_521delAGA	c.(517-522)gaagag>gag	p.173_174EE>E	POLR3GL_ENST00000369313.3_In_Frame_Del_p.150_151EE>E	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	173	Glu-rich.				gene expression (GO:0010467)|innate immune response (GO:0045087)|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)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ctcttccttctcttcttcttctt	0.448																																						ENST00000369314.1																			0				endometrium(2)|large_intestine(1)|lung(1)	4						c.(517-522)gag>ga		polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like																																				SO:0001651	inframe_deletion	84265							g.chr1:145457040_145457042delTCT	BC004355	CCDS72875.1	1q21.1	2008-02-05	2006-12-14		ENSG00000121851	ENSG00000121851			28466	protein-coding gene	gene with protein product			"""polymerase (RNA) III (DNA directed) polypeptide G (32kD) like"""			12477932	Standard	NM_032305		Approved	flj32422, MGC3200	uc001enp.1	Q9BT43	OTTHUMG00000013739	ENST00000369314.1:c.519_521delAGA	1.37:g.145457049_145457051delTCT	ENSP00000358320:p.Glu174del					POLR3GL_ENST00000369313.3_In_Frame_Del_p.EE150del	p.EE173del	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN			7	625_627	-	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		173			Glu-rich.		B1MVG5	In_Frame_Del	DEL	ENST00000369314.1	37	c.519_521delAGA	CCDS914.1																																																																																				0.448	POLR3GL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038510.1	NM_032305		9	109						9	109	---	---	---	---
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)cccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	Poly-Pro.|Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL																																	ENST00000234739.3				Dom	yes		1	1q21	607	T	B-cell CLL/lymphoma 9			L	"""IGH@, IGL@"""		B-ALL		0				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7						c.(1540-1542)ccfs		B-cell CLL/lymphoma 9				35,42,4183		0,0,35,4,34,2057	60.0	70.0	66.0			3.6	1.0	1		67	38,97,8115		0,0,38,24,49,4014	no	codingComplex	BCL9	NM_004326.2		0,0,73,28,83,6071	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6364,1.8075,1.6946			147091501	73,139,12298	2203	4300	6503	SO:0001589	frameshift_variant	607				Wnt receptor signaling pathway	nucleus	protein binding	g.chr1:147091501delC	Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.1540delC	1.37:g.147091501delC	ENSP00000234739:p.Pro517fs						p.P517fs	NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN			8	2280	+	all_hematologic(923;0.115)		517			Poly-Pro.|Pro-rich.		Q5T489	Frame_Shift_Del	DEL	ENST00000234739.3	37	c.1540delC	CCDS30833.1																																																																																				0.582	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039468.1	NM_004326		7	683						7	683	---	---	---	---
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)tttfs	p.F526fs	RP11-98D18.17_ENST00000601909.1_lincRNA	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582																																						ENST00000368820.3																			0				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1576-1578)ttfs		leucine rich repeat and Ig domain containing 4							131.0	137.0	135.0					1																	151773603		2203	4300	6503	SO:0001589	frameshift_variant	339398					integral to membrane		g.chr1:151773603delA		CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.1578delT	1.37:g.151773603delA	ENSP00000357810:p.Phe526fs						p.F526fs	NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.181)		2	2515	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		526						Frame_Shift_Del	DEL	ENST00000368820.3	37	c.1578delT	CCDS30855.1																																																																																				0.582	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036639.1	XM_291387		9	1112						9	1112	---	---	---	---
PBXIP1	57326	broad.mit.edu	37	1	154917508	154917510	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:154917508_154917510delGGT	ENST00000368463.3	-	11	2257_2259	c.2186_2188delACC	c.(2185-2190)caccgg>cgg	p.H729del	PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000498553.1_5'Flank	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	729	His-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGTCAGCCCCGGTGGTGGTGGTG	0.64																																						ENST00000368463.3																			0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(2185-2190)cgg>c		pre-B-cell leukemia homeobox interacting protein 1				1,4265		0,1,2132						1.1	0.6			98	7,8247		1,5,4121	no	coding	PBXIP1	NM_020524.2		1,6,6253	A1A1,A1R,RR		0.0848,0.0234,0.0639				8,12512				SO:0001651	inframe_deletion	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154917508_154917510delGGT	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.2186_2188delACC	1.37:g.154917517_154917519delGGT	ENSP00000357448:p.His729del					PBXIP1_ENST00000539880.1_In_Frame_Del_p.HR556del|PBXIP1_ENST00000368465.1_In_Frame_Del_p.HR700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.HR574del	p.HR729del	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		11	2257_2259	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		729			His-rich.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	In_Frame_Del	DEL	ENST00000368463.3	37	c.2186_2188delACC	CCDS1074.1																																																																																				0.640	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	NM_020524		9	415						9	415	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000392129.6_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	7	382						7	382	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183515266	183515267	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:183515266_183515267insA	ENST00000347615.2	+	17	2655_2656	c.2536_2537insA	c.(2536-2538)gaafs	p.E846fs	SMG7_ENST00000456731.2_Frame_Shift_Ins_p.E758fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.E804fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.E800fs|SMG7_ENST00000367537.3_Frame_Shift_Ins_p.E829fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	846					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						GCAGCCTCTAGAAAAAAAAATG	0.45																																						ENST00000367537.3																			1	Unknown(1)	p.?(1)	skin(1)	breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(2485-2487)aaafs		SMG7 nonsense mediated mRNA decay factor																																				SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183515266_183515267insA	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2545dupA	1.37:g.183515275_183515275dupA	ENSP00000340766:p.Glu846fs					SMG7_ENST00000456731.2_Frame_Shift_Ins_p.K758fs|SMG7_ENST00000507469.1_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000508461.1_Frame_Shift_Ins_p.K804fs|SMG7_ENST00000515829.2_Frame_Shift_Ins_p.K800fs|SMG7_ENST00000347615.2_Frame_Shift_Ins_p.K846fs	p.K829fs			Q92540	SMG7_HUMAN			18	2680_2681	+			846			Gln/Pro-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Ins	INS	ENST00000347615.2	37	c.2485_2486insA	CCDS1355.1																																																																																				0.450	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		12	547						12	547	---	---	---	---
APOBEC4	403314	broad.mit.edu	37	1	183616826	183616828	+	In_Frame_Del	DEL	TTC	TTC	-	rs141411396		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:183616826_183616828delTTC	ENST00000308641.4	-	2	1360_1362	c.1089_1091delGAA	c.(1087-1092)aagaaa>aaa	p.363_364KK>K	APOBEC4_ENST00000481562.1_5'UTR|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	363					mRNA processing (GO:0006397)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						TTTCTTCCCTTTCTTCTTCTTCT	0.419																																						ENST00000308641.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						c.(1087-1092)aaa>aa		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)																																				SO:0001651	inframe_deletion	403314				mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding	g.chr1:183616826_183616828delTTC	BC021711	CCDS1358.1	1q25.3	2008-02-05	2005-10-27	2005-10-27	ENSG00000173627	ENSG00000173627		"""Apolipoprotein B mRNA editing enzymes"""	32152	protein-coding gene	gene with protein product		609908	"""chromosome 1 open reading frame 169"""	C1orf169		16082223	Standard	NM_203454		Approved	MGC26594, FLJ25691, RP1-127C7.4	uc001gqn.3	Q8WW27	OTTHUMG00000035459	ENST00000308641.4:c.1089_1091delGAA	1.37:g.183616835_183616837delTTC	ENSP00000310622:p.Lys364del					RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.3_Intron|APOBEC4_ENST00000481562.1_5'UTR	p.KK363del	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN			2	1360_1362	-			363					Q8N7F6	In_Frame_Del	DEL	ENST00000308641.4	37	c.1089_1091delGAA	CCDS1358.1																																																																																				0.419	APOBEC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086126.1	NM_203454		7	729						7	729	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186273952	186273954	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:186273952_186273954delTCC	ENST00000445192.2	+	6	541_543	c.496_498delTCC	c.(496-498)tccdel	p.S177del	PRG4_ENST00000367484.3_In_Frame_Del_p.S136del|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367483.4_In_Frame_Del_p.S136del|PRG4_ENST00000367486.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	177	Ser-rich.				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						AAATCAAGAGtcctcctcctcct	0.355																																						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.(496-498)del		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186273952_186273954delTCC	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.496_498delTCC	1.37:g.186273961_186273963delTCC	ENSP00000399679:p.Ser177del					PRG4_ENST00000367486.3_Intron|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367484.3_In_Frame_Del_p.S136del|PRG4_ENST00000367483.4_In_Frame_Del_p.S136del	p.S177del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			6	541_543	+			177			Ser-rich.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.496_498delTCC	CCDS1369.1																																																																																				0.355	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	402						7	402	---	---	---	---
PIK3C2B	5287	broad.mit.edu	37	1	204438072	204438072	+	Frame_Shift_Del	DEL	G	G	-	rs115574296		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:204438072delG	ENST00000367187.3	-	3	1415	c.859delC	c.(859-861)cgcfs	p.R287fs	PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	287	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)	p.R287fs*92(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCATAGGTGCGGGGGGGCACC	0.622																																						ENST00000367187.3																			1	Deletion - Frameshift(1)	p.R287fs*92(1)	lung(1)	breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52						c.(859-861)gcfs		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta							57.0	65.0	62.0					1																	204438072		2203	4300	6503	SO:0001589	frameshift_variant	5287				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding	g.chr1:204438072delG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.859delC	1.37:g.204438072delG	ENSP00000356155:p.Arg287fs					PIK3C2B_ENST00000424712.2_Frame_Shift_Del_p.R287fs	p.R287fs	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)		3	1415	-	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		287			Interaction with GRB2.		O95666|Q5SW99	Frame_Shift_Del	DEL	ENST00000367187.3	37	c.859delC	CCDS1446.1																																																																																				0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646		8	725						8	725	---	---	---	---
C1orf131	128061	broad.mit.edu	37	1	231362513	231362513	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:231362513delT	ENST00000366649.2	-	5	690	c.665delA	c.(664-666)aagfs	p.K222fs	C1orf131_ENST00000366651.3_Frame_Shift_Del_p.K221fs|C1orf131_ENST00000318906.2_Frame_Shift_Del_p.K222fs			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	222	Lys-rich.						poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				CTTTGCTGCCTTTTTTTCTTT	0.373																																						ENST00000318906.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8						c.(664-666)agfs		chromosome 1 open reading frame 131							163.0	159.0	161.0					1																	231362513		2203	4300	6503	SO:0001589	frameshift_variant	128061							g.chr1:231362513delT	BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.665delA	1.37:g.231362513delT	ENSP00000355609:p.Lys222fs					C1orf131_ENST00000366651.3_Frame_Shift_Del_p.K221fs|C1orf131_ENST00000366649.2_Frame_Shift_Del_p.K222fs	p.K222fs			Q8NDD1	CA131_HUMAN			5	693	-	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)	222			Lys-rich.		Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Frame_Shift_Del	DEL	ENST00000366649.2	37	c.665delA	CCDS1591.2																																																																																				0.373	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092864.1	NM_152379		7	728						7	728	---	---	---	---
HEATR1	55127	broad.mit.edu	37	1	236719429	236719429	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:236719429delT	ENST00000366582.3	-	38	5599	c.5485delA	c.(5485-5487)actfs	p.T1829fs	HEATR1_ENST00000366581.2_Frame_Shift_Del_p.T1748fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1829					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTTGTAAGTTTTTTTGATG	0.438																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(5485-5487)ctfs		HEAT repeat containing 1							139.0	142.0	141.0					1																	236719429		2203	4300	6503	SO:0001589	frameshift_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236719429delT	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.5485delA	1.37:g.236719429delT	ENSP00000355541:p.Thr1829fs					HEATR1_ENST00000366581.2_Frame_Shift_Del_p.T1748fs	p.T1829fs	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		38	5599	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1829					Q5T3Q8|Q6P197|Q9NW23	Frame_Shift_Del	DEL	ENST00000366582.3	37	c.5485delA	CCDS31066.1																																																																																				0.438	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		8	780						8	780	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		7	598						7	598	---	---	---	---
AC016995.3	0	broad.mit.edu	37	2	38710019	38710019	+	lincRNA	DEL	T	T	-	rs2005502|rs57303101|rs538061888|rs200292719	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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			9	34						9	34	---	---	---	---
CCDC88A	55704	broad.mit.edu	37	2	55549818	55549818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:55549818delT	ENST00000436346.1	-	18	3849	c.3008delA	c.(3007-3009)aatfs	p.N1003fs	AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1003					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						AGCTTCATAATTTTTTTTCAC	0.353																																						ENST00000436346.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						c.(3007-3009)atfs		coiled-coil domain containing 88A							55.0	55.0	55.0					2																	55549818		2203	4300	6503	SO:0001589	frameshift_variant	55704				activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding	g.chr2:55549818delT	AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.3008delA	2.37:g.55549818delT	ENSP00000410608:p.Asn1003fs					CCDC88A_ENST00000413716.2_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000336838.6_Frame_Shift_Del_p.N1002fs|CCDC88A_ENST00000263630.8_Frame_Shift_Del_p.N1003fs|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA	p.N1003fs	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN			18	3849	-			1003					A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Frame_Shift_Del	DEL	ENST00000436346.1	37	c.3008delA																																																																																					0.353	CCDC88A-203	KNOWN	basic	protein_coding	protein_coding		NM_017571		9	474						9	474	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91887904	91887905	+	RNA	INS	-	-	T	rs374250838|rs373336109|rs369805878|rs199562278	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:91887904_91887905insT	ENST00000436174.1	-	0	540																											AGCTATTTTCCATTTTTTTTTT	0.292																																						ENST00000436174.1																			0																																																			0							g.chr2:91887904_91887905insT																													2.37:g.91887904_91887905insT														0	540	-									RNA	INS	ENST00000436174.1	37																																																																																						0.292	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			9	205						9	205	---	---	---	---
ITPRIPL1	150771	broad.mit.edu	37	2	96992793	96992795	+	In_Frame_Del	DEL	GAG	GAG	-	rs368798001		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:96992793_96992795delGAG	ENST00000439118.2	+	3	675_677	c.424_426delGAG	c.(424-426)gagdel	p.E147del	ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000361124.4_In_Frame_Del_p.E155del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	147						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TTCCAGCAGTGAGGAGGAGGAGG	0.532																																						ENST00000361124.4																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(448-450)del		inositol 1,4,5-trisphosphate receptor interacting protein-like 1																																				SO:0001651	inframe_deletion	150771					integral to membrane		g.chr2:96992793_96992795delGAG		CCDS33250.1, CCDS46360.1, CCDS54378.1	2q11.2	2011-04-28	2011-04-28	2008-08-11	ENSG00000198885	ENSG00000198885			29371	protein-coding gene	gene with protein product			"""KIAA1754-like"", ""inositol 1,4,5-triphosphate receptor interacting protein-like 1"""	KIAA1754L		12477932	Standard	NM_178495		Approved		uc010yul.2	Q6GPH6	OTTHUMG00000155230	ENST00000439118.2:c.424_426delGAG	2.37:g.96992802_96992804delGAG	ENSP00000389308:p.Glu147del					ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del|ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del	p.E155del	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN			1	859_861	+			147					F5H1L8|Q8NE61	In_Frame_Del	DEL	ENST00000439118.2	37	c.448_450delGAG	CCDS46360.1																																																																																				0.532	ITPRIPL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338896.1	NM_178495		11	328						11	328	---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		9	519						9	519	---	---	---	---
RGPD8	727851	broad.mit.edu	37	2	113181886	113181887	+	Splice_Site	INS	-	-	A	rs375647001	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:113181886_113181887insA	ENST00000302558.3	-	2	264		c.e2-2		RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8						protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						CATTGACTTCTAAAAAAAAATT	0.252													|||unknown(NO_COVERAGE)	74	0.0147764	0.0507	0.0014	5008	,	,		33471	0.0		0.001	False		,,,				2504	0.0051					ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.e2-2		RANBP2-like and GRIP domain containing 8																																				SO:0001630	splice_region_variant	727851							g.chr2:113181886_113181887insA	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.73-2->T	2.37:g.113181895_113181895dupA						RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site		NM_001164463.1	NP_001157935.1					2	264	-								Q5CZA8	Splice_Site	INS	ENST00000302558.3	37		CCDS46394.1																																																																																				0.252	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279	Intron	10	932						10	932	---	---	---	---
RIF1	55183	broad.mit.edu	37	2	152326345	152326345	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr2:152326345delA	ENST00000243326.5	+	33	7545	c.7062delA	c.(7060-7062)gtafs	p.V2354fs	RIF1_ENST00000453091.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.V2354fs			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGTCCAATGTAAAAAAGGCTC	0.313																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(7060-7062)gtfs		RAP1 interacting factor homolog (yeast)							65.0	69.0	68.0					2																	152326345		2203	4300	6503	SO:0001589	frameshift_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152326345delA	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.7062delA	2.37:g.152326345delA	ENSP00000243326:p.Val2354fs					RIF1_ENST00000453091.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000430328.2_Frame_Shift_Del_p.V2328fs|RIF1_ENST00000444746.2_Frame_Shift_Del_p.V2354fs|RIF1_ENST00000428287.2_Frame_Shift_Del_p.V2328fs	p.V2354fs			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	33	7545	+			2354			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	Frame_Shift_Del	DEL	ENST00000243326.5	37	c.7062delA	CCDS2194.1																																																																																				0.313	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			8	634						8	634	---	---	---	---
JAGN1	84522	broad.mit.edu	37	3	9934929	9934930	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:9934929_9934930insG	ENST00000307768.4	+	2	589_590	c.420_421insG	c.(421-423)ggtfs	p.G141fs		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					GTTTCCTCTTTGGTTTTTCTGC	0.515																																						ENST00000307768.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10						c.(418-423)ttgtttfs		jagunal homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	84522					endoplasmic reticulum membrane|integral to membrane		g.chr3:9934929_9934930insG	AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.422dupG	3.37:g.9934931_9934931dupG	ENSP00000306106:p.Gly141fs						p.F141fs	NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN			2	589_590	+	Medulloblastoma(99;0.227)		141						Frame_Shift_Ins	INS	ENST00000307768.4	37	c.420_421insG	CCDS2588.1																																																																																				0.515	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250335.1	NM_032492		131	359						131	359	---	---	---	---
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:53220653delG	ENST00000394729.2	+	13	1622	c.1294delG	c.(1294-1296)gggfs	p.G433fs	PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	433	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GTTCCTCAACGGGGGGGACCT	0.602																																						ENST00000394729.2																			0				breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1294-1296)ggfs		protein kinase C, delta							215.0	220.0	218.0					3																	53220653		2203	4300	6503	SO:0001589	frameshift_variant	5580				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	g.chr3:53220653delG		CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1294delG	3.37:g.53220653delG	ENSP00000378217:p.Gly433fs					PRKCD_ENST00000330452.3_Frame_Shift_Del_p.G433fs	p.G433fs	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	13	1622	+		Ovarian(412;0.0728)	433			Protein kinase.		B0KZ81|B2R834|Q15144|Q86XJ6	Frame_Shift_Del	DEL	ENST00000394729.2	37	c.1294delG	CCDS2870.1																																																																																				0.602	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257818.1			8	1464						8	1464	---	---	---	---
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Start_Codon_Del	DEL	GAT	GAT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:53529193_53529195delGAT	ENST00000350061.5	+	0	511_513				CACNA1D_ENST00000422281.2_Start_Codon_Del|CACNA1D_ENST00000288139.4_Start_Codon_Del	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90								calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)																																			SO:0001582	initiator_codon_variant	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53529193_53529195delGAT	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278		3.37:g.53529202_53529204delGAT						CACNA1D_ENST00000350061.5_Start_Codon_Del|CACNA1D_ENST00000422281.2_Start_Codon_Del		NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	0	118_120	+								B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Translation_Start_Site	DEL	ENST00000350061.5	37		CCDS46848.1																																																																																				0.581	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		12	478						12	478	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		9	1153						9	1153	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:66436625_66436627delGCT	ENST00000273261.3	-	13	2091_2093	c.1567_1569delAGC	c.(1567-1569)agcdel	p.S524del	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000383703.3_In_Frame_Del_p.S548del|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.|Poly-Ser.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1639-1641)del		leucine-rich repeats and immunoglobulin-like domains 1																																				SO:0001651	inframe_deletion	26018					integral to membrane		g.chr3:66436625_66436627delGCT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1567_1569delAGC	3.37:g.66436634_66436636delGCT	ENSP00000273261:p.Ser524del					SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|LRIG1_ENST00000496559.2_5'UTR	p.S548del			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	14	2242_2244	-		Lung NSC(201;0.0101)	524			Ig-like C2-type 1.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	In_Frame_Del	DEL	ENST00000273261.3	37	c.1639_1641delAGC	CCDS33783.1																																																																																				0.547	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		7	1452						7	1452	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108102443	108102443	+	Splice_Site	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:108102443delT	ENST00000273353.3	-	41	5881	c.5825delA	c.(5824-5826)aag>ag	p.K1942fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1942						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGCCATACCTTTTTCCCAAA	0.368																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.e41+1		myosin, heavy chain 15							194.0	183.0	186.0					3																	108102443		1851	4098	5949	SO:0001630	splice_region_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108102443delT	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.5826+1A>-	3.37:g.108102443delT							p.K1942_splice	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			41	5881	-			1942						Splice_Site	DEL	ENST00000273353.3	37	c.5826_splice	CCDS43127.1																																																																																				0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	Frame_Shift_Del	7	669						7	669	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108682418	108682419	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:108682418_108682419insT	ENST00000483760.1	-	26	2621_2622	c.2578_2579insA	c.(2578-2580)atafs	p.I860fs	MORC1_ENST00000232603.5_Frame_Shift_Ins_p.I881fs					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTCCTCTTTATTTTTTTTTCA	0.287																																						ENST00000232603.5																			0				breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						c.(2641-2643)aaafs		MORC family CW-type zinc finger 1																																				SO:0001589	frameshift_variant	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108682418_108682419insT	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2579dupA	3.37:g.108682427_108682427dupT	ENSP00000417282:p.Ile860fs					MORC1_ENST00000483760.1_Frame_Shift_Ins_p.K860fs	p.K881fs	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN			27	2723_2724	-			881						Frame_Shift_Ins	INS	ENST00000483760.1	37	c.2641_2642insA																																																																																					0.287	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			7	362						7	362	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122433231	122433232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:122433231_122433232insA	ENST00000474629.2	+	12	4221_4222	c.3955_3956insA	c.(3955-3957)gaafs	p.E1319fs		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1319	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GCAGGAGTGTGAAAAAAAAAAT	0.421																																						ENST00000474629.2																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(3955-3957)aaafs		poly (ADP-ribose) polymerase family, member 14																																				SO:0001589	frameshift_variant	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122433231_122433232insA	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.3965dupA	3.37:g.122433241_122433241dupA	ENSP00000418194:p.Glu1319fs						p.K1319fs	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	12	4221_4222	+			1319			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Frame_Shift_Ins	INS	ENST00000474629.2	37	c.3955_3956insA	CCDS46894.1																																																																																				0.421	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		13	236						13	236	---	---	---	---
XRN1	54464	broad.mit.edu	37	3	142122606	142122607	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:142122606_142122607insA	ENST00000264951.4	-	18	2129_2130	c.2012_2013insT	c.(2011-2013)ttgfs	p.L671fs	XRN1_ENST00000392981.2_Frame_Shift_Ins_p.L671fs	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	671					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						CACTTTTCTTCAAAAAAAACTT	0.292																																						ENST00000264951.4																			0				NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						c.(2011-2013)taafs		5'-3' exoribonuclease 1																																				SO:0001589	frameshift_variant	54464				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding	g.chr3:142122606_142122607insA	AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.2013dupT	3.37:g.142122614_142122614dupA	ENSP00000264951:p.Leu671fs					XRN1_ENST00000392981.2_Frame_Shift_Ins_p.*671fs	p.*671fs	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN			18	2129_2130	-			671					Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Frame_Shift_Ins	INS	ENST00000264951.4	37	c.2012_2013insT	CCDS3123.1																																																																																				0.292	XRN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000354087.2	NM_019001		8	757						8	757	---	---	---	---
RP11-649A16.1	0	broad.mit.edu	37	3	146995077	146995077	+	RNA	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:146995077delA	ENST00000473299.1	-	0	132																											TCTGGACTGtaaaaaaaaaaa	0.294																																						ENST00000473299.1																			0																																																			0							g.chr3:146995077delA																													3.37:g.146995077delA														0	132	-									RNA	DEL	ENST00000473299.1	37																																																																																						0.294	RP11-649A16.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000355522.1			14	43						14	43	---	---	---	---
DHX36	170506	broad.mit.edu	37	3	154032977	154032978	+	Frame_Shift_Ins	INS	-	-	T	rs373108427		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:154032977_154032978insT	ENST00000496811.1	-	3	540_541	c.460_461insA	c.(460-462)atgfs	p.M154fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.M154fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.M154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	154					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GATTCTAAACATTTTTTTTTCT	0.337																																						ENST00000496811.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35						c.(460-462)gttfs		DEAH (Asp-Glu-Ala-His) box polypeptide 36																																				SO:0001589	frameshift_variant	170506					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr3:154032977_154032978insT	AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.461dupA	3.37:g.154032986_154032986dupT	ENSP00000417078:p.Met154fs					DHX36_ENST00000308361.6_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000329463.5_Frame_Shift_Ins_p.V154fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.V154fs	p.V154fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		3	540_541	-			154					B2RB00|Q70JU3|Q8IYE5|Q9P240	Frame_Shift_Ins	INS	ENST00000496811.1	37	c.460_461insA	CCDS3171.1																																																																																				0.337	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865		14	380						14	380	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000475480.1_5'UTR|TMEM41A_ENST00000296254.3_Intron	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	809						7	809	---	---	---	---
HTT	3064	broad.mit.edu	37	4	3216905	3216907	+	In_Frame_Del	DEL	GAG	GAG	-	rs373205907		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr4:3216905_3216907delGAG	ENST00000355072.5	+	51	7166_7168	c.7021_7023delGAG	c.(7021-7023)gagdel	p.E2345del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2345	Poly-Glu.				anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCCATCAGCGAGGAGGAGGAGG	0.424																																						ENST00000355072.5																			0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(7021-7023)del		huntingtin																																				SO:0001651	inframe_deletion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3216905_3216907delGAG	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.7021_7023delGAG	4.37:g.3216914_3216916delGAG	ENSP00000347184:p.Glu2345del						p.E2345del	NM_002111.6	NP_002102.4	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	51	7166_7168	+		all_epithelial(65;0.18)	2345			Poly-Glu.		Q9UQB7	In_Frame_Del	DEL	ENST00000355072.5	37	c.7021_7023delGAG	CCDS43206.1																																																																																				0.424	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	NM_002111		7	174						7	174	---	---	---	---
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	TTGAG	-	rs369956607		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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		7	541						7	541	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs|LIAS_ENST00000515061.1_3'UTR	NM_001024921.2	NP_001020092.1	P32969	RL9_HUMAN	ribosomal protein L9						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)|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)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribosome (GO:0005840)	RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.K36fs*31(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|skin(1)	8						CTTGCCAGATAAAAAAAAGGA	0.393																																						ENST00000261434.3																			1	Deletion - Frameshift(1)	p.K36fs*31(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						c.(100-102)aafs		lipoic acid synthetase	Lipoic Acid(DB00166)						107.0	120.0	115.0					4																	39462464		2203	4300	6503	SO:0001631	upstream_gene_variant	11019				inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding	g.chr4:39462464delA	D14531	CCDS3452.1	4p13	2011-04-06			ENSG00000163682	ENSG00000163682		"""L ribosomal proteins"""	10369	protein-coding gene	gene with protein product		603686				8597601, 8415001	Standard	XM_005262661		Approved	L9	uc021sso.1	P32969	OTTHUMG00000099367		4.37:g.39462464delA	Exception_encountered					LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs	p.K36fs	NM_006859.2	NP_006850.2	O43766	LIAS_HUMAN			2	218	+			36						Frame_Shift_Del	DEL	ENST00000449470.2	37	c.100delA	CCDS3452.1																																																																																				0.393	RPL9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361018.1			12	959						12	959	---	---	---	---
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaagaa>aaa	p.E86del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	86					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414																																						ENST00000226798.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(253-258)aaa>a		FSHD region gene 1				24,4216		0,24,2096						3.5	1.0		dbSNP_134	78	47,8181		0,47,4067	no	coding	FRG1	NM_004477.2		0,71,6163	A1A1,A1R,RR		0.5712,0.566,0.5695				71,12397				SO:0001651	inframe_deletion	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190873437_190873439delAAG	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.254_256delAAG	4.37:g.190873440_190873442delAAG	ENSP00000226798:p.Glu86del					FRG1_ENST00000514482.1_3'UTR	p.KE85del	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	3	476_478	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	85					A8K775	In_Frame_Del	DEL	ENST00000226798.4	37	c.254_256delAAG	CCDS34121.1																																																																																				0.414	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		13	739						13	739	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	TCC	-	rs61744453|rs75551718	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:32090059_32090061delTCC	ENST00000438447.1	+	20	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del			O15018	PDZD2_HUMAN	PDZ domain containing 2	2173	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527																																						ENST00000438447.1																			0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(6505-6507)del		PDZ domain containing 2																																				SO:0001651	inframe_deletion	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32090059_32090061delTCC	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.6505_6507delTCC	5.37:g.32090068_32090070delTCC	ENSP00000402033:p.Ser2173del					PDZD2_ENST00000282493.3_In_Frame_Del_p.S2173del	p.S2173del			O15018	PDZD2_HUMAN			20	6893_6895	+			2173			Ser-rich.		Q9BXD4	In_Frame_Del	DEL	ENST00000438447.1	37	c.6505_6507delTCC	CCDS34137.1																																																																																				0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			7	611						7	611	---	---	---	---
NPR3	4883	broad.mit.edu	37	5	32789822	32789823	+	3'UTR	DEL	GT	GT	-	rs370388563		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:32789822_32789823delGT	ENST00000265074.8	+	0	5340_5341				AC026703.1_ENST00000326958.1_Frame_Shift_Del_p.C106fs	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CTGATTTTGGGTGTGTGTGTGT	0.421																																						ENST00000326958.1																			0											c.(313-318)gggtfs																																						SO:0001624	3_prime_UTR_variant	0							g.chr5:32789822_32789823delGT		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3372GT>-	5.37:g.32789832_32789833delGT						NPR3_ENST00000265074.8_3'UTR	p.GC105fs							1	878_879	+								A2RRD1|B4DT84|E7EPG9	Frame_Shift_Del	DEL	ENST00000265074.8	37	c.315_316delGT	CCDS56357.1																																																																																				0.421	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		9	549						9	549	---	---	---	---
ANKHD1	54882	broad.mit.edu	37	5	139905676	139905676	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr5:139905676delA	ENST00000360839.2	+	26	4742	c.4588delA	c.(4588-4590)aaafs	p.K1531fs	ANKHD1_ENST00000544120.1_5'Flank|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Frame_Shift_Del_p.K1531fs	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	1531						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGTTTGGGAAAAAAAGGGC	0.423																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(4588-4590)aafs		ankyrin repeat and KH domain containing 1							133.0	145.0	141.0					5																	139905676		2203	4300	6503	SO:0001589	frameshift_variant	54882							g.chr5:139905676delA	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.4588delA	5.37:g.139905676delA	ENSP00000354085:p.Lys1531fs					ANKHD1_ENST00000360839.2_Frame_Shift_Del_p.K1531fs|ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Del_p.K1531fs	p.K1531fs	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		26	4712	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Frame_Shift_Del	DEL	ENST00000360839.2	37	c.4588delA	CCDS4225.1																																																																																				0.423	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		7	1231						7	1231	---	---	---	---
PRPF4B	8899	broad.mit.edu	37	6	4031880	4031881	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:4031880_4031881insA	ENST00000337659.6	+	2	229_230	c.129_130insA	c.(130-132)aaafs	p.K44fs	PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.K30fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	44	Arg/Lys-rich (basic).|His-rich.				mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACAGTCGTCACaaaaaaaagaa	0.297																																						ENST00000337659.6																			0				breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(127-132)caaaaafs		pre-mRNA processing factor 4B																																				SO:0001589	frameshift_variant	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4031880_4031881insA	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.137dupA	6.37:g.4031888_4031888dupA	ENSP00000337194:p.Lys44fs					PRPF4B_ENST00000538861.1_Frame_Shift_Ins_p.QK29fs	p.QK43fs	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			2	229_230	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	43			Arg/Lys-rich (basic).|His-rich.		A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Frame_Shift_Ins	INS	ENST00000337659.6	37	c.129_130insA	CCDS4488.1																																																																																				0.297	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			7	518						7	518	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(136-141)gaa>ga		DEK oncogene			,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264079_18264081delTCC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del					DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	585_587	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	46			Asp/Glu-rich (highly acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	ENST00000397239.3	37	c.138_140delGGA	CCDS34344.1																																																																																				0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			9	373						9	373	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	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.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		13	468						13	468	---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27782855	27782855	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:27782855delA	ENST00000359465.4	+	1	34	c.34delA	c.(34-36)aaafs	p.K13fs	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	13					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TCCAGTCCCTAAAAAAGGCTC	0.433																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(34-36)aafs		histone cluster 1, H2bm							92.0	93.0	93.0					6																	27782855		2203	4300	6503	SO:0001589	frameshift_variant	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27782855delA	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.34delA	6.37:g.27782855delA	ENSP00000352442:p.Lys13fs						p.K13fs	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	34	+			13					Q6NWQ3	Frame_Shift_Del	DEL	ENST00000359465.4	37	c.34delA	CCDS4629.1																																																																																				0.433	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		9	642						9	642	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38816440	38816440	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:38816440delA	ENST00000359357.3	+	35	4665	c.4411delA	c.(4411-4413)aaafs	p.K1472fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1472					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTCCATTTAAAAAAAATAT	0.343																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4411-4413)aafs		dynein, axonemal, heavy chain 8							54.0	56.0	56.0					6																	38816440		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38816440delA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4411delA	6.37:g.38816440delA	ENSP00000352312:p.Lys1472fs					DNAH8_ENST00000449981.2_Frame_Shift_Del_p.K1689fs|DNAH8_ENST00000441566.1_Frame_Shift_Del_p.K1472fs	p.K1472fs							35	4665	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.4411delA																																																																																					0.343	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		7	336						7	336	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3412-3414)agfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	2641						7	2641	---	---	---	---
ZNF318	24149	broad.mit.edu	37	6	43308089	43308089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:43308089delT	ENST00000361428.2	-	10	3724	c.3647delA	c.(3646-3648)aagfs	p.K1216fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1216	Lys-rich.				meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGCCTTTGCCTTTTTTTCTTT	0.463																																						ENST00000361428.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61						c.(3646-3648)agfs		zinc finger protein 318							176.0	180.0	179.0					6																	43308089		2203	4300	6503	SO:0001589	frameshift_variant	24149				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	g.chr6:43308089delT	AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3647delA	6.37:g.43308089delT	ENSP00000354964:p.Lys1216fs					ZNF318_ENST00000318149.3_Intron	p.K1216fs	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)		10	3724	-			1216			Lys-rich.		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Frame_Shift_Del	DEL	ENST00000361428.2	37	c.3647delA	CCDS4895.2																																																																																				0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040601.2	NM_014345		7	940						7	940	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcaacagcagcagcagc	0.729																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(175-177)del		runt-related transcription factor 2																																				SO:0001651	inframe_deletion	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390446_45390448delCAG	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.175_177delCAG	6.37:g.45390455_45390457delCAG	ENSP00000360493:p.Gln71del					RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del	p.Q71del	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	533_535	+			71			Poly-Gln.		O14614|O14615|O95181	In_Frame_Del	DEL	ENST00000371438.1	37	c.175_177delCAG	CCDS43467.2																																																																																				0.729	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		8	156						8	156	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79655961	79655961	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:79655961delT	ENST00000275034.4	-	38	4554	c.4387delA	c.(4387-4389)aggfs	p.R1463fs	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1463					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TTTAAGATCCTTTTTTTCCTT	0.358																																						ENST00000275034.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68						c.(4387-4389)ggfs		pleckstrin homology domain interacting protein							150.0	155.0	153.0					6																	79655961		2203	4300	6503	SO:0001589	frameshift_variant	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79655961delT	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.4387delA	6.37:g.79655961delT	ENSP00000275034:p.Arg1463fs					PHIP_ENST00000479165.1_5'UTR	p.R1463fs	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	38	4554	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1463					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Del	DEL	ENST00000275034.4	37	c.4387delA	CCDS4987.1																																																																																				0.358	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			7	683						7	683	---	---	---	---
SOGA3	387104	broad.mit.edu	37	6	127804080	127804080	+	Frame_Shift_Del	DEL	T	T	-	rs34142169		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:127804080delT	ENST00000525778.1	-	5	2280	c.1535delA	c.(1534-1536)aagfs	p.K512fs	SOGA3_ENST00000556132.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs			Q5TF21	SOGA3_HUMAN	SOGA family member 3	512					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											CTGTTGAGCCTTTTTTTCAGA	0.294																																						ENST00000556132.1																			0											c.(1534-1536)agfs		SOGA family member 3							133.0	121.0	125.0					6																	127804080		1790	4063	5853	SO:0001589	frameshift_variant	387104					integral to membrane		g.chr6:127804080delT	AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1535delA	6.37:g.127804080delT	ENSP00000434570:p.Lys512fs					SOGA3_ENST00000465909.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000525778.1_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000481848.2_Frame_Shift_Del_p.K512fs|SOGA3_ENST00000368268.2_Frame_Shift_Del_p.K512fs	p.K512fs	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN			5	2399	-			512						Frame_Shift_Del	DEL	ENST00000525778.1	37	c.1535delA	CCDS43505.1																																																																																				0.294	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388246.1	NM_001012279		8	717						8	717	---	---	---	---
SGK1	6446	broad.mit.edu	37	6	134493456	134493460	+	Splice_Site	DEL	TGTAA	TGTAA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr6:134493456_134493460delTGTAA	ENST00000237305.7	-	8	751		c.e8-2		SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000367858.5_Splice_Site|SGK1_ENST00000367857.5_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000489458.2_Splice_Site	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1						apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TTTAAGTCTCTGTAAAAAAGTGAAT	0.356																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.e10-2		serum/glucocorticoid regulated kinase 1																																				SO:0001630	splice_region_variant	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134493456_134493460delTGTAA	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.663-2TTACA>-	6.37:g.134493456_134493460delTGTAA						SGK1_ENST00000237305.7_Splice_Site|SGK1_ENST00000528577.1_Splice_Site|SGK1_ENST00000489458.2_Splice_Site|SGK1_ENST00000475719.2_Splice_Site|SGK1_ENST00000413996.3_Splice_Site|SGK1_ENST00000367857.5_Splice_Site		NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	10	1545	-	Colorectal(23;0.221)							B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Splice_Site	DEL	ENST00000237305.7	37		CCDS5170.1																																																																																				0.356	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2		Intron	82	233						82	233	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(337-339)tttfs	p.F113fs	ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.F113fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.F113fs			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	113						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.F115fs*3(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GTGTAAACCTGTTTTTTTTCAC	0.45																																						ENST00000396706.2																			2	Deletion - Frameshift(2)	p.F115fs*3(2)	ovary(1)|large_intestine(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(334-339)ctttttfs		zinc finger, DHHC-type containing 4																																				SO:0001589	frameshift_variant	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6621848_6621849insT	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.344dupT	7.37:g.6621856_6621856dupT	ENSP00000379934:p.Phe113fs					ZDHHC4_ENST00000396713.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000396709.1_Frame_Shift_Ins_p.LF112fs|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.LF112fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.LF112fs	p.LF112fs			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	5	779_780	+		Ovarian(82;0.232)	112					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Frame_Shift_Ins	INS	ENST00000396706.2	37	c.336_337insT	CCDS5352.1																																																																																				0.450	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		8	920						8	920	---	---	---	---
MPP6	51678	broad.mit.edu	37	7	24705665	24705666	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:24705665_24705666insA	ENST00000222644.5	+	8	1159_1160	c.909_910insA	c.(910-912)aaafs	p.K304fs	MPP6_ENST00000409761.1_Frame_Shift_Ins_p.K192fs|MPP6_ENST00000396475.2_Frame_Shift_Ins_p.K304fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						CTATAAGTAGCAAAAAAAAGAA	0.302																																						ENST00000396475.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(907-912)agaaaafs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)																																				SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24705665_24705666insA	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.917dupA	7.37:g.24705673_24705673dupA	ENSP00000222644:p.Lys304fs					MPP6_ENST00000409761.1_Frame_Shift_Ins_p.RK191fs|MPP6_ENST00000222644.4_Frame_Shift_Ins_p.RK303fs	p.RK303fs	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN			9	1208_1209	+			303					B2RAF0	Frame_Shift_Ins	INS	ENST00000222644.5	37	c.909_910insA	CCDS5388.1																																																																																				0.302	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4			9	1031						9	1031	---	---	---	---
GTF2I	2969	broad.mit.edu	37	7	74114939	74114939	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:74114939delT	ENST00000324896.4	+	6	950	c.561delT	c.(559-561)cctfs	p.P187fs	GTF2I_ENST00000353920.4_Frame_Shift_Del_p.P187fs|AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.P187fs|GTF2I_ENST00000443166.1_Frame_Shift_Del_p.P187fs|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.P187fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	187					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AATGCAGACCTTTTTTAGAGC	0.318																																						ENST00000324896.4																			0				NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(559-561)ccfs		general transcription factor IIi							124.0	124.0	124.0					7																	74114939		2203	4300	6503	SO:0001589	frameshift_variant	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74114939delT	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.561delT	7.37:g.74114939delT	ENSP00000322542:p.Pro187fs					AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000346152.4_Frame_Shift_Del_p.P187fs|GTF2I_ENST00000416070.1_Frame_Shift_Del_p.P187fs|GTF2I_ENST00000443166.1_Frame_Shift_Del_p.P187fs|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000353920.4_Frame_Shift_Del_p.P187fs	p.P187fs	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN			6	950	+			187					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Frame_Shift_Del	DEL	ENST00000324896.4	37	c.561delT	CCDS5573.1																																																																																				0.318	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		7	1029						7	1029	---	---	---	---
DNAJC2	27000	broad.mit.edu	37	7	102964992	102964992	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:102964992delT	ENST00000379263.3	-	6	840	c.590delA	c.(589-591)aatfs	p.N197fs	DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs|PMPCB_ENST00000420236.2_Intron	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	197	ZRF1-UBD.				'de novo' cotranslational protein folding (GO:0051083)|chromatin modification (GO:0016568)|DNA replication (GO:0006260)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA biosynthetic process (GO:2000279)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone binding (GO:0042393)|Hsp70 protein binding (GO:0030544)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						TTTAGGAACATTTTTTTTATT	0.239																																						ENST00000379263.3																			0				endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						c.(589-591)atfs		DnaJ (Hsp40) homolog, subfamily C, member 2							54.0	54.0	54.0					7																	102964992		1782	4027	5809	SO:0001589	frameshift_variant	27000				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding	g.chr7:102964992delT	X98260	CCDS43628.1, CCDS47679.1	7q22-q32	2011-09-02	2008-07-01	2008-07-01	ENSG00000105821	ENSG00000105821		"""Heat shock proteins / DNAJ (HSP40)"""	13192	protein-coding gene	gene with protein product		605502	"""zuotin related factor 1"""	ZRF1		8885239	Standard	NM_001129887		Approved	MPP11, MPHOSPH11, ZUO1, zuotin	uc003vbo.3	Q99543	OTTHUMG00000157202	ENST00000379263.3:c.590delA	7.37:g.102964992delT	ENSP00000368565:p.Asn197fs					PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs	p.N197fs	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN			6	840	-			197			ZRF1-UBD.		A4VCI0|Q9BVX1	Frame_Shift_Del	DEL	ENST00000379263.3	37	c.590delA	CCDS43628.1																																																																																				0.239	DNAJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347891.1			7	718						7	718	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141619203	141619203	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:141619203delT	ENST00000548136.1	+	1	587	c.528delT	c.(526-528)aatfs	p.N176fs	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TGGTGAACAATTTTTTTTGTG	0.383																																						ENST00000548136.1																			0				NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22						c.(526-528)aafs		olfactory receptor, family 9, subfamily A, member 4							152.0	152.0	152.0					7																	141619203		2056	4243	6299	SO:0001589	frameshift_variant	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141619203delT		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.528delT	7.37:g.141619203delT	ENSP00000448789:p.Asn176fs					MGAM_ENST00000497554.1_Intron	p.N176fs	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN			1	587	+	Melanoma(164;0.0171)		176					B9EGV6|Q6IFI4	Frame_Shift_Del	DEL	ENST00000548136.1	37	c.528delT	CCDS43661.1																																																																																				0.383	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		10	1023						10	1023	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-	rs587750077|rs376315825	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACCCACATTTCTACTTTCTTTAT	0.517																																						ENST00000603901.1																			0																																																			0							g.chr7:142481743_142481745delCTA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481743_142481745delCTA								NR_001296.3						0	454	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.517	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		14	414						14	414	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481996	142481997	+	RNA	INS	-	-	C	rs372758218|rs376236342		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr7:142481996_142481997insC	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										TCCCAAGGTGGGGGGCTGAGGA	0.564																																						ENST00000603901.1																			0																																																			0							g.chr7:142481996_142481997insC			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481996_142481997insC								NR_001296.3						0	591	+									RNA	INS	ENST00000603901.1	37																																																																																						0.564	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		23	125						23	125	---	---	---	---
ANGPT2	285	broad.mit.edu	37	8	6378797	6378798	+	Frame_Shift_Ins	INS	-	-	T	rs34047276		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:6378797_6378798insT	ENST00000325203.5	-	4	1174_1175	c.700_701insA	c.(700-702)atafs	p.I234fs	ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.I234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.I182fs|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.I234fs			O15123	ANGP2_HUMAN	angiopoietin 2	234					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		GGCAGTCACTATTTTTTTTTCT	0.366																																						ENST00000325203.5																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						c.(700-702)agtfs		angiopoietin 2																																				SO:0001589	frameshift_variant	285				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding	g.chr8:6378797_6378798insT	AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.701dupA	8.37:g.6378806_6378806dupT	ENSP00000314897:p.Ile234fs					ANGPT2_ENST00000523120.1_Frame_Shift_Ins_p.S234fs|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Frame_Shift_Ins_p.S234fs|ANGPT2_ENST00000338312.6_Frame_Shift_Ins_p.S182fs	p.S234fs			O15123	ANGP2_HUMAN		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)	4	1174_1175	-		Hepatocellular(245;0.0663)	234					A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Frame_Shift_Ins	INS	ENST00000325203.5	37	c.700_701insA	CCDS5958.1																																																																																				0.366	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206737.1	NM_001147		12	471						12	471	---	---	---	---
CHD7	55636	broad.mit.edu	37	8	61769038	61769040	+	In_Frame_Del	DEL	GGA	GGA	-	rs374380640|rs534510177		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:61769038_61769040delGGA	ENST00000423902.2	+	34	7678_7680	c.7199_7201delGGA	c.(7198-7203)cggagg>cgg	p.2400_2401RR>R	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2400	Poly-Arg.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCTCGCCAGCGGAGGAGGAGGAG	0.512																																						ENST00000423902.2																			0				NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(7198-7203)cgg>c		chromodomain helicase DNA binding protein 7																																				SO:0001651	inframe_deletion	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61769038_61769040delGGA	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7199_7201delGGA	8.37:g.61769047_61769049delGGA	ENSP00000392028:p.Arg2405del					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	p.RR2404del	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		34	7678_7680	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	2404			Poly-Arg.		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	In_Frame_Del	DEL	ENST00000423902.2	37	c.7199_7201delGGA	CCDS47865.1																																																																																				0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		8	153						8	153	---	---	---	---
ASPH	444	broad.mit.edu	37	8	62588724	62588726	+	Intron	DEL	TTC	TTC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:62588724_62588726delTTC	ENST00000379454.4	-	3	510				ASPH_ENST00000518068.1_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000389204.4_Intron|ASPH_ENST00000541428.1_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000379449.6_In_Frame_Del_p.E174del|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000517847.2_Intron	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase						activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CGGTTTCGCTTTCTTCTTCTTCT	0.369																																						ENST00000379449.6																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(520-522)del		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)																																			SO:0001627	intron_variant	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62588724_62588726delTTC	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.322+4800GAA>-	8.37:g.62588733_62588735delTTC						ASPH_ENST00000389204.4_Intron|ASPH_ENST00000517856.1_Intron|ASPH_ENST00000517903.1_Intron|ASPH_ENST00000517847.2_Intron|ASPH_ENST00000517661.1_In_Frame_Del_p.E145del|ASPH_ENST00000379454.4_Intron|ASPH_ENST00000356457.5_Intron|ASPH_ENST00000445642.3_Intron|ASPH_ENST00000518068.1_Intron|ASPH_ENST00000522603.1_Intron|ASPH_ENST00000522835.1_Intron|ASPH_ENST00000541428.1_Intron	p.E174del	NM_001164756.1	NP_001158228.1	Q12797	ASPH_HUMAN			5	694_696	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	0			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	In_Frame_Del	DEL	ENST00000379454.4	37	c.520_522delGAA	CCDS34898.1																																																																																				0.369	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		8	449						8	449	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs	p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		7	798						7	798	---	---	---	---
SLC26A7	115111	broad.mit.edu	37	8	92378867	92378867	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:92378867delA	ENST00000276609.3	+	14	1787	c.1548delA	c.(1546-1548)gcafs	p.A516fs	SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000520249.1_3'UTR	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCCTGAATGCAAAAAAATTTT	0.348																																						ENST00000276609.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1546-1548)gcfs		solute carrier family 26 (anion exchanger), member 7							61.0	66.0	64.0					8																	92378867		2203	4298	6501	SO:0001589	frameshift_variant	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92378867delA	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1548delA	8.37:g.92378867delA	ENSP00000276609:p.Ala516fs					SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.A516fs|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.A516fs	p.A516fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		14	1787	+			516			STAS.			Frame_Shift_Del	DEL	ENST00000276609.3	37	c.1548delA	CCDS6254.1																																																																																				0.348	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1			8	1018						8	1018	---	---	---	---
DCAF13	25879	broad.mit.edu	37	8	104439486	104439487	+	Frame_Shift_Ins	INS	-	-	T	rs566617241|rs368195456|rs531567041|rs546695543	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:104439486_104439487insT	ENST00000521971.1	+	4	590_591	c.510_511insT	c.(511-513)tttfs	p.F171fs	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.F207fs			Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	211					protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGAGGTAATGTTTTTTTTTAA	0.277													TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion	12	0.00239617	0.0083	0.0	5008	,	,		16529	0.0		0.0	False		,,,				2504	0.001					ENST00000521971.1																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(508-513)atttttfs		DDB1 and CUL4 associated factor 13																																				SO:0001589	frameshift_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104439486_104439487insT	AK074725	CCDS34934.1	8q22.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000164934	ENSG00000164934		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	24535	protein-coding gene	gene with protein product			"""WD repeats and SOF1 domain containing"""	WDSOF1		11042152	Standard	NM_015420		Approved	DKFZP564O0463, Gm83, HSPC064	uc003yln.3	Q9NV06	OTTHUMG00000164888	ENST00000521971.1:c.519dupT	8.37:g.104439495_104439495dupT	ENSP00000430883:p.Phe171fs					DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs|DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000521999.1_Intron	p.IF170fs			Q9NV06	DCA13_HUMAN			4	590_591	+			0					Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3	Frame_Shift_Ins	INS	ENST00000521971.1	37	c.510_511insT																																																																																					0.277	DCAF13-003	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000380799.2	NM_015420		7	324						7	324	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	8	451						8	451	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					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)			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)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				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.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	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.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		8	413						8	413	---	---	---	---
ANXA13	312	broad.mit.edu	37	8	124707761	124707762	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:124707761_124707762insT	ENST00000419625.1	-	6	523_524	c.451_452insA	c.(451-453)atcfs	p.I151fs	ANXA13_ENST00000262219.6_Frame_Shift_Ins_p.I192fs	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	151					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AGACACCAGGATTTTTTTTAGG	0.411																																						ENST00000262219.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25						c.(574-576)cctfs		annexin A13																																				SO:0001589	frameshift_variant	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124707761_124707762insT	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.452dupA	8.37:g.124707769_124707769dupT	ENSP00000390809:p.Ile151fs					ANXA13_ENST00000419625.1_Frame_Shift_Ins_p.P151fs	p.P192fs	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		7	641_642	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		151					Q9BQR5	Frame_Shift_Ins	INS	ENST00000419625.1	37	c.574_575insA	CCDS47917.1																																																																																				0.411	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1	NM_004306		8	1063						8	1063	---	---	---	---
CYP11B1	1584	broad.mit.edu	37	8	143956378	143956380	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr8:143956378_143956380delGCA	ENST00000292427.4	-	8	1423_1425	c.1391_1393delTGC	c.(1390-1395)ctgcac>cac	p.L464del	CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_In_Frame_Del_p.L535del	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	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)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CTCACATGGTGCAGCAGCAGCAG	0.68									Familial Hyperaldosteronism type I																													ENST00000292427.4																			0				central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67						c.(1390-1395)cac>c		cytochrome P450, family 11, subfamily B, polypeptide 1	Mitotane(DB00648)																																			SO:0001651	inframe_deletion	0	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|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143956378_143956380delGCA	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.1391_1393delTGC	8.37:g.143956387_143956389delGCA	ENSP00000292427:p.Leu464del					CYP11B1_ENST00000517471.1_Intron|CYP11B1_ENST00000377675.3_In_Frame_Del_p.LH535del	p.LH464del	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN			8	1423_1425	-	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-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					Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	In_Frame_Del	DEL	ENST00000292427.4	37	c.1391_1393delTGC	CCDS6392.1																																																																																				0.680	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2			7	360						7	360	---	---	---	---
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaggaa>gaa	p.916_917EE>E	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2746-2751)gaa>ga		receptor tyrosine kinase-like orphan receptor 2																																				SO:0001651	inframe_deletion	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486026_94486028delTCC	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2748_2750delGGA	9.37:g.94486035_94486037delTCC	ENSP00000364860:p.Glu917del					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.EE916del	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2946_2948	-			916					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	In_Frame_Del	DEL	ENST00000375708.3	37	c.2748_2750delGGA	CCDS6691.1																																																																																				0.645	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			7	524						7	524	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15254987	15254989	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:15254987_15254989delTCA	ENST00000378116.4	-	8	2604_2606	c.2598_2600delTGA	c.(2596-2601)gatgac>gac	p.866_867DD>D	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	866						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTCTCCTTGGTCATCATCATCAT	0.571																																						ENST00000378116.4																			0				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						c.(2596-2601)gac>ga		family with sequence similarity 171, member A1																																				SO:0001651	inframe_deletion	221061					integral to membrane		g.chr10:15254987_15254989delTCA	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2598_2600delTGA	10.37:g.15254996_15254998delTCA	ENSP00000367356:p.Asp867del						p.DD866del	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN			8	2604_2606	-			866					D3DRT9|Q32M49|Q8N4I0	In_Frame_Del	DEL	ENST00000378116.4	37	c.2598_2600delTGA	CCDS31154.1																																																																																				0.571	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		7	697						7	697	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	623						7	623	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000603742.1_5'UTR	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		9	812						9	812	---	---	---	---
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(868-873)agc>a		ubiquilin 3																																				SO:0001651	inframe_deletion	50613							g.chr11:5529918_5529920delTGG	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.869_871delCCA	11.37:g.5529927_5529929delTGG	ENSP00000347997:p.Thr290del					HBG2_ENST00000380259.2_Intron	p.TS290del	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1016_1018	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	290		T -> S (in dbSNP:rs2234451).			Q9NRE0	In_Frame_Del	DEL	ENST00000311659.4	37	c.869_871delCCA	CCDS7758.1																																																																																				0.537	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481		9	460						9	460	---	---	---	---
OR10A2	341276	broad.mit.edu	37	11	6891253	6891255	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:6891253_6891255delTTC	ENST00000307322.4	+	1	330_332	c.268_270delTTC	c.(268-270)ttcdel	p.F94del		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGATGTATTTCTTCTTCTTCT	0.517																																						ENST00000307322.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24						c.(268-270)del		olfactory receptor, family 10, subfamily A, member 2																																				SO:0001651	inframe_deletion	341276				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6891253_6891255delTTC	BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.268_270delTTC	11.37:g.6891262_6891264delTTC	ENSP00000303862:p.Phe94del						p.F94del	NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)	1	330_332	+		Medulloblastoma(188;0.0523)|all_neural(188;0.236)	94					B2RNL9|Q6IFG9	In_Frame_Del	DEL	ENST00000307322.4	37	c.268_270delTTC	CCDS31415.1																																																																																				0.517	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460		8	533						8	533	---	---	---	---
TMEM41B	440026	broad.mit.edu	37	11	9304991	9304992	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:9304991_9304992insT	ENST00000528080.1	-	7	1193_1194	c.855_856insA	c.(853-858)aaactafs	p.L286fs		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	286					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		TTCTGCTTTAGTTTTTTTTGGA	0.342																																						ENST00000528080.1																			0				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7						c.(853-858)aataaafs		transmembrane protein 41B																																				SO:0001589	frameshift_variant	440026					integral to membrane		g.chr11:9304991_9304992insT	D26067	CCDS31424.1, CCDS53600.1	11p15.3	2008-02-05			ENSG00000166471	ENSG00000166471			28948	protein-coding gene	gene with protein product						7584026, 7584028	Standard	NM_015012		Approved	KIAA0033	uc001mhn.2	Q5BJD5	OTTHUMG00000165719	ENST00000528080.1:c.856dupA	11.37:g.9304999_9304999dupT	ENSP00000433126:p.Leu286fs						p.NK285fs	NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN		all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)	7	1193_1194	-			285					D3DQU9|E9PP29|Q15055|Q4G0P0	Frame_Shift_Ins	INS	ENST00000528080.1	37	c.855_856insA	CCDS31424.1																																																																																				0.342	TMEM41B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385940.2			7	273						7	273	---	---	---	---
PAK1	5058	broad.mit.edu	37	11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				actin cytoskeleton reorganization (GO:0031532)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cellular response to insulin stimulus (GO:0032869)|dendrite development (GO:0016358)|exocytosis (GO:0006887)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|receptor clustering (GO:0043113)|response to hypoxia (GO:0001666)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|wound healing (GO:0042060)	axon (GO:0030424)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|intercalated disc (GO:0014704)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|Z disc (GO:0030018)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478																																						ENST00000356341.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29						c.(547-552)gct>g		p21 protein (Cdc42/Rac)-activated kinase 1			,	392,0,3872		189,0,14,0,0,1929					,	3.9	1.0		dbSNP_134	110	824,25,7405		391,0,42,0,25,3669	no	codingComplex,codingComplex	PAK1	NM_002576.4,NM_001128620.1	,	580,0,56,0,25,5598	A1A1,A1A2,A1R,A2A2,A2R,RR		10.2859,9.1932,9.9137	,	,		1216,25,11277				SO:0001651	inframe_deletion	5058				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity	g.chr11:77069990_77069992delCAT	U51120	CCDS8250.1, CCDS44687.1	11q13-q14	2008-06-17	2008-06-17						8590	protein-coding gene	gene with protein product	"""STE20 homolog, yeast"""	602590	"""p21/Cdc42/Rac1-activated kinase 1 (yeast Ste20-related)"", ""p21/Cdc42/Rac1-activated kinase 1 (STE20 homolog, yeast)"""			8805275, 9533029	Standard	NM_002576		Approved		uc001oyg.4	Q13153		ENST00000356341.3:c.548_550delATG	11.37:g.77069999_77070001delCAT	ENSP00000348696:p.Asp183del					PAK1_ENST00000278568.4_In_Frame_Del_p.DA183del|PAK1_ENST00000530617.1_In_Frame_Del_p.DA183del|PAK1_ENST00000528203.1_In_Frame_Del_p.DA85del|PAK1_ENST00000525542.1_5'UTR	p.DA183del	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN			6	1079_1081	-	all_cancers(14;1.75e-18)		183			Interaction with CRIPAK.		O75561|Q13567|Q32M53|Q32M54|Q86W79	In_Frame_Del	DEL	ENST00000356341.3	37	c.548_550delATG	CCDS8250.1																																																																																				0.478	PAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382083.2	NM_002576		12	563						12	563	---	---	---	---
C11orf54	28970	broad.mit.edu	37	11	93486914	93486914	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:93486914delA	ENST00000331239.4	+	4	400	c.221delA	c.(220-222)caafs	p.Q74fs	C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs|C11orf54_ENST00000528288.1_Frame_Shift_Del_p.Q74fs			Q9H0W9	CK054_HUMAN	chromosome 11 open reading frame 54	74					metabolic process (GO:0008152)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTGTAAACCAAAAAAAAGTA	0.353																																						ENST00000528288.1																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(5)	8						c.(220-222)cafs		chromosome 11 open reading frame 54							99.0	97.0	98.0					11																	93486914		2201	4298	6499	SO:0001589	frameshift_variant	28970					nucleus	hydrolase activity, acting on ester bonds|protein binding|zinc ion binding	g.chr11:93486914delA	AF092133	CCDS8294.1, CCDS66204.1, CCDS73365.1, CCDS73366.1	11q21	2012-08-09			ENSG00000182919	ENSG00000182919			30204	protein-coding gene	gene with protein product		615810				16522806	Standard	NM_014039		Approved	PTD012	uc001pef.3	Q9H0W9	OTTHUMG00000167452	ENST00000331239.4:c.221delA	11.37:g.93486914delA	ENSP00000331209:p.Gln74fs					C11orf54_ENST00000528099.1_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000354421.3_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000331239.4_Frame_Shift_Del_p.Q74fs|C11orf54_ENST00000540113.1_Frame_Shift_Del_p.Q55fs	p.Q74fs	NM_014039.2	NP_054758.2	Q9H0W9	CK054_HUMAN			4	456	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	74					A8K850|Q6FI88|Q6XYB0|Q96EI3|Q96IX1|Q9Y6B4	Frame_Shift_Del	DEL	ENST00000331239.4	37	c.221delA																																																																																					0.353	C11orf54-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394671.1	NM_014039		7	289						7	289	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A	rs552593852|rs199627800		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:102743846_102743847insA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|proteolysis (GO:0006508)|wound healing, spreading of epidermal cells (GO:0035313)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)|Marimastat(DB00786)	AGTATCTCTGGAAAAAAAAATA	0.332																																						ENST00000532855.1																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26								matrix metallopeptidase 12 (macrophage elastase)	Acetohydroxamic Acid(DB00551)																																					4321				positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr11:102743846_102743847insA	L23808	CCDS73375.1	11q22.3	2009-02-26	2005-08-08			ENSG00000262406			7158	protein-coding gene	gene with protein product		601046	"""matrix metalloproteinase 12 (macrophage elastase)"""				Standard	NM_002426		Approved	HME	uc001phk.3	P39900			11.37:g.102743855_102743855dupA										P39900	MMP12_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.014)	0	199	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)						B2R9X8|B7ZLF6|Q2M1L9	RNA	INS	ENST00000532855.1	37																																																																																						0.332	MMP12-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000386646.1	NM_002426		7	135						7	135	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0					ENST00000321355.2																			0				large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						c.(301-306)ctttttfs		olfactory receptor, family 8, subfamily D, member 4				222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				SO:0001589	frameshift_variant	338662				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123777441_123777442insT	AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs						p.LF101fs	NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)	1	333_334	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	101					Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	c.303_304insT	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197		10	1059						10	1059	---	---	---	---
SCAF11	9169	broad.mit.edu	37	12	46318575	46318577	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:46318575_46318577delGGT	ENST00000369367.3	-	12	4073_4075	c.3840_3842delACC	c.(3838-3843)ccaccc>ccc	p.1280_1281PP>P	SCAF11_ENST00000549162.1_In_Frame_Del_p.1088_1089PP>P|SCAF11_ENST00000419565.2_In_Frame_Del_p.1280_1281PP>P|SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_In_Frame_Del_p.965_966PP>P	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1280	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TGGGGGAGGGGGTGGTGGTGGTG	0.483																																						ENST00000465950.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						c.(2893-2898)ccc>cc		SR-related CTD-associated factor 11																																				SO:0001651	inframe_deletion	9169				spliceosome assembly	nucleus	protein binding|zinc ion binding	g.chr12:46318575_46318577delGGT	Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3840_3842delACC	12.37:g.46318584_46318586delGGT	ENSP00000358374:p.Pro1285del					SCAF11_ENST00000419565.2_In_Frame_Del_p.PP1284del|SCAF11_ENST00000369367.3_In_Frame_Del_p.PP1284del|SCAF11_ENST00000549162.1_In_Frame_Del_p.PP1092del	p.PP969del			Q99590	SCAFB_HUMAN			2	4104_4106	-			1284			Arg-rich.		A6NEU9|A6NLW5|Q8IW59	In_Frame_Del	DEL	ENST00000369367.3	37	c.2895_2897delACC	CCDS8748.2																																																																																				0.483	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719		9	407						9	407	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			8	981						8	981	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550943.1_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	506						8	506	---	---	---	---
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN	synaptonemal complex protein 3	215	Gln-rich.				male meiosis I (GO:0007141)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						TCCATCATAATTTTTTTTTGC	0.259																																						ENST00000392927.3																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11	GRCh37	CD035010	SYCP3	D		c.(643-645)ttfs		synaptonemal complex protein 3			,,	9,54,4181		1,0,7,9,36,2069	53.0	55.0	54.0		,,	4.2	1.0	12		55	10,59,8149		0,0,10,17,25,4057	no	codingComplex,codingComplex,codingComplex	SYCP3	NM_153694.4,NM_001177949.1,NM_001177948.1	,,	1,0,17,26,61,6126	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8396,1.4844,1.0592	,,	,,	102122901	19,113,12330	2198	4284	6482	SO:0001589	frameshift_variant	50511				cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding	g.chr12:102122901delT	AF492003, AI075991	CCDS9087.1	12q23.2	2007-02-05			ENSG00000139351	ENSG00000139351			18130	protein-coding gene	gene with protein product		604759				12213195, 10854409	Standard	NM_153694		Approved		uc001tis.3	Q8IZU3	OTTHUMG00000150132	ENST00000392927.3:c.643delA	12.37:g.102122901delT	ENSP00000376658:p.Ile215fs					SYCP3_ENST00000392924.1_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs	p.I215fs	NM_001177948.1|NM_001177949.1|NM_153694.4	NP_001171419.1|NP_001171420.1|NP_710161.1	Q8IZU3	SYCP3_HUMAN			8	774	-			215			Gln-rich.			Frame_Shift_Del	DEL	ENST00000392927.3	37	c.643delA	CCDS9087.1																																																																																				0.259	SYCP3-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316478.2	NM_153694		13	371						13	371	---	---	---	---
VPS29	51699	broad.mit.edu	37	12	110930880	110930881	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:110930880_110930881delTG	ENST00000549578.1	-	3	416_417	c.351_352delCA	c.(349-354)cacaaafs	p.HK117fs	VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	117					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						GCTTCAAATTTGTGTGTGTGTC	0.421																																						ENST00000549578.1																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(349-354)caaafs		vacuolar protein sorting 29 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110930880_110930881delTG	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.351_352delCA	12.37:g.110930888_110930889delTG	ENSP00000447058:p.His117fs					VPS29_ENST00000360579.7_Frame_Shift_Del_p.HK121fs|VPS29_ENST00000447578.2_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000549970.1_Frame_Shift_Del_p.HK22fs|VPS29_ENST00000546588.1_Frame_Shift_Del_p.HK149fs|VPS29_ENST00000552130.2_Frame_Shift_Del_p.HK22fs	p.HK117fs	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN			3	416_417	-			117					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Frame_Shift_Del	DEL	ENST00000549578.1	37	c.351_352delCA	CCDS41832.1																																																																																				0.421	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1			7	377						7	377	---	---	---	---
DDX55	57696	broad.mit.edu	37	12	124103201	124103202	+	Intron	DEL	TG	TG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr12:124103201_124103202delTG	ENST00000238146.4	+	12	1214				DDX55_ENST00000541259.1_Intron|SNORA9_ENST00000384170.1_RNA|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000421670.3_De_novo_Start_InFrame	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55							membrane (GO:0016020)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		GAATGTGGTATGTGTGTGTGTG	0.52											OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000421670.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14								DEAD (Asp-Glu-Ala-Asp) box polypeptide 55																																				SO:0001627	intron_variant	57696						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr12:124103201_124103202delTG	AB046815	CCDS9251.1	12q24.31	2003-06-13			ENSG00000111364	ENSG00000111364		"""DEAD-boxes"""	20085	protein-coding gene	gene with protein product						10997877	Standard	NM_020936		Approved	KIAA1595	uc001ufi.3	Q8NHQ9	OTTHUMG00000168695	ENST00000238146.4:c.1165-14TG>-	12.37:g.124103211_124103212delTG			OREG0022230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1531	DDX55_ENST00000238146.4_Intron|DDX55_ENST00000538744.1_Intron|DDX55_ENST00000541259.1_Intron				Q8NHQ9	DDX55_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)	0	639_640	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q658L6|Q8IYH0|Q9HCH7	Translation_Start_Site	DEL	ENST00000238146.4	37		CCDS9251.1																																																																																				0.520	DDX55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400616.2			8	222						8	222	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	526						7	526	---	---	---	---
MRPS31	10240	broad.mit.edu	37	13	41331010	41331010	+	Splice_Site	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:41331010delT	ENST00000323563.6	-	4	775	c.739delA	c.(739-741)agg>gg	p.R247fs		NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	247						mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GCCTGATACCTTTTTTTAAGA	0.393																																						ENST00000323563.6																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13						c.e4+1		mitochondrial ribosomal protein S31							111.0	100.0	104.0					13																	41331010		2203	4300	6503	SO:0001630	splice_region_variant	10240					mitochondrion|ribosome	protein domain specific binding	g.chr13:41331010delT	Z68747	CCDS9372.1	13q14.11	2012-09-13			ENSG00000102738	ENSG00000102738		"""Mitochondrial ribosomal proteins / small subunits"""	16632	protein-coding gene	gene with protein product		611992				11279123, 8567980	Standard	NM_005830		Approved	IMOGN38	uc001uxm.4	Q92665	OTTHUMG00000016777	ENST00000323563.6:c.740+1A>-	13.37:g.41331010delT							p.R247_splice	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)	4	775	-		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)	247					B2RCS3|Q5VYC8|Q8WTV8	Splice_Site	DEL	ENST00000323563.6	37	c.740_splice	CCDS9372.1																																																																																				0.393	MRPS31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044640.2		Frame_Shift_Del	8	400						8	400	---	---	---	---
LOC102723968	102723968	broad.mit.edu	37	13	64407210	64407211	+	lincRNA	INS	-	-	TACTGTCAG			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:64407210_64407211insTACTGTCAG	ENST00000607822.1	-	0	2159																											AGACCTTTATATAATTGCCAAA	0.366																																						ENST00000607822.1																			0																																																			0							g.chr13:64407210_64407211insTACTGTCAG																													13.37:g.64407210_64407211insTACTGTCAG														0	2159	-									RNA	INS	ENST00000607822.1	37																																																																																						0.366	RP11-394A14.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000471084.1			9	522						9	522	---	---	---	---
KDELC1	79070	broad.mit.edu	37	13	103443722	103443722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr13:103443722delT	ENST00000376004.4	-	5	1067	c.731delA	c.(730-732)aagfs	p.K245fs	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	245						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATTGGATTTCTTTTTTTCCAA	0.418																																						ENST00000376004.4																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19						c.(730-732)agfs		KDEL (Lys-Asp-Glu-Leu) containing 1							203.0	218.0	213.0					13																	103443722		2203	4300	6503	SO:0001589	frameshift_variant	79070					endoplasmic reticulum lumen		g.chr13:103443722delT	BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.731delA	13.37:g.103443722delT	ENSP00000365172:p.Lys245fs					KDELC1_ENST00000460338.1_5'UTR	p.K245fs	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN			5	1067	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		245					Q53HL3|Q9BVD2	Frame_Shift_Del	DEL	ENST00000376004.4	37	c.731delA	CCDS9504.1																																																																																				0.418	KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1			7	1568						7	1568	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		10	418						10	418	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			0							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			10	73						10	73	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			7	62						7	62	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25456925	25456925	+	RNA	DEL	G	G	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:25456925delG	ENST00000424208.1	+	0	2516				SNORD115-22_ENST00000364456.1_RNA|SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-23_ENST00000364461.1_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_ENST00000450809.1_RNA|SNHG14_ENST00000424333.1_RNA		NR_003305.1						0	2516	+									RNA	DEL	ENST00000424208.1	37																																																																																						0.557	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2			8	1173						8	1173	---	---	---	---
FAN1	22909	broad.mit.edu	37	15	31196894	31196894	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:31196894delA	ENST00000362065.4	+	2	319	c.28delA	c.(28-30)aaafs	p.K11fs	FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	11					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						ACCTCCTGACAAAAAAAGGCC	0.353								Direct reversal of damage																														ENST00000362065.4																			0				autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						c.(28-30)aafs	Direct reversal of damage	FANCD2/FANCI-associated nuclease 1							77.0	87.0	84.0					15																	31196894		2202	4300	6502	SO:0001589	frameshift_variant	22909				double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding	g.chr15:31196894delA		CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.28delA	15.37:g.31196894delA	ENSP00000354497:p.Lys11fs					FAN1_ENST00000565466.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561607.1_Frame_Shift_Del_p.K11fs|FAN1_ENST00000561594.1_Frame_Shift_Del_p.K11fs	p.K11fs	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN			2	319	+			11					A8K4M2|Q86WU8	Frame_Shift_Del	DEL	ENST00000362065.4	37	c.28delA	CCDS32186.1																																																																																				0.353	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430740.1	NM_014967		11	1010						11	1010	---	---	---	---
ADAL	161823	broad.mit.edu	37	15	43641115	43641115	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:43641115delA	ENST00000562188.1	+	8	660	c.644delA	c.(643-645)caafs	p.Q215fs	ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000422466.2_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs			Q6DHV7	ADAL_HUMAN	adenosine deaminase-like	215					adenosine catabolic process (GO:0006154)|drug metabolic process (GO:0017144)|inosine biosynthetic process (GO:0046103)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	adenosine deaminase activity (GO:0004000)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		ATTCCAAACCAAAAAAAAGAA	0.453																																						ENST00000422466.2																			0				endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7						c.(643-645)cafs		adenosine deaminase-like							69.0	68.0	68.0					15																	43641115		2201	4299	6500	SO:0001589	frameshift_variant	161823				adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding	g.chr15:43641115delA		CCDS32214.1, CCDS53936.1	15q15.3	2014-08-08			ENSG00000168803	ENSG00000168803			31853	protein-coding gene	gene with protein product							Standard	NM_001012969		Approved		uc010udo.2	Q6DHV7	OTTHUMG00000176646	ENST00000562188.1:c.644delA	15.37:g.43641115delA	ENSP00000456242:p.Gln215fs					ADAL_ENST00000389651.4_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000562188.1_Frame_Shift_Del_p.Q215fs|ADAL_ENST00000428046.3_Frame_Shift_Del_p.Q188fs	p.Q215fs			Q6DHV7	ADAL_HUMAN		GBM - Glioblastoma multiforme(94;9.31e-07)	11	1218	+		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)	215					A6NHZ3|B4DQM8	Frame_Shift_Del	DEL	ENST00000562188.1	37	c.644delA																																																																																					0.453	ADAL-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000432960.1	XM_091156		7	475						7	475	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64972995	64972997	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:64972995_64972997delCAC	ENST00000326648.3	+	7	4224_4226	c.4096_4098delCAC	c.(4096-4098)cacdel	p.H1371del		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1371	Poly-His.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGTCCACACACCACCACCACC	0.591																																						ENST00000326648.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(4096-4098)del		zinc finger protein 609				15,2,4245		0,0,15,0,2,2114						1.6	1.0			90	2,1,8249		0,0,2,0,1,4123	no	codingComplex	ZNF609	NM_015042.1		0,0,17,0,3,6237	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0364,0.3989,0.1598				17,3,12494				SO:0001651	inframe_deletion	23060					nucleus	zinc ion binding	g.chr15:64972995_64972997delCAC	BC014251	CCDS32270.1	15q22.1	2008-05-02				ENSG00000180357		"""Zinc fingers, C2H2-type"""	29003	protein-coding gene	gene with protein product						9205841	Standard	NM_015042		Approved	KIAA0295	uc002ann.3	O15014		ENST00000326648.3:c.4096_4098delCAC	15.37:g.64973004_64973006delCAC	ENSP00000316527:p.His1371del						p.H1371del	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			7	4224_4226	+			1371			Poly-His.		Q0D2I2	In_Frame_Del	DEL	ENST00000326648.3	37	c.4096_4098delCAC	CCDS32270.1																																																																																				0.591	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		7	620						7	620	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-	rs370141395		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|RP11-809H16.4_ENST00000559495.1_RNA	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_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del	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		7	1081						7	1081	---	---	---	---
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aaafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363																																						ENST00000268182.5																			0				breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(2815-2817)aafs		IQ motif containing GTPase activating protein 1							105.0	121.0	116.0					15																	91019925		2198	4298	6496	SO:0001589	frameshift_variant	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91019925delA	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.2815delA	15.37:g.91019925delA	ENSP00000268182:p.Lys940fs					IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	p.K940fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		24	2939	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		940					A7MBM3	Frame_Shift_Del	DEL	ENST00000268182.5	37	c.2815delA	CCDS10362.1																																																																																				0.363	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		8	882						8	882	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91550236	91550238	+	In_Frame_Del	DEL	TCC	TCC	-	rs147271815		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:91550236_91550238delTCC	ENST00000333371.3	-	9	995_997	c.642_644delGGA	c.(640-645)gaggat>gat	p.E214del	VPS33B_ENST00000535906.1_In_Frame_Del_p.E187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.E123del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	214					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGTTTCGCCATCCTCCTCCTCCT	0.522																																						ENST00000333371.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16						c.(640-645)gat>ga		vacuolar protein sorting 33 homolog B (yeast)																																				SO:0001651	inframe_deletion	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91550236_91550238delTCC	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.642_644delGGA	15.37:g.91550245_91550247delTCC	ENSP00000327650:p.Glu214del					VPS33B_ENST00000535906.1_In_Frame_Del_p.ED187del|VPS33B_ENST00000535843.1_In_Frame_Del_p.ED123del	p.ED214del	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			9	995_997	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		214					B3KQF6|Q96K14|Q9NRP6|Q9NSF3	In_Frame_Del	DEL	ENST00000333371.3	37	c.642_644delGGA	CCDS10369.1																																																																																				0.522	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668		10	738						10	738	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			12	168						12	168	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102304934	102304936	+	RNA	DEL	TCT	TCT	-	rs377396518|rs527958203		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr15:102304934_102304936delTCT	ENST00000561463.1	+	0	12980_12982									DNM1 pseudogene 47																		AAGGAGTTCATCTTCTCAGAGCT	0.586																																						ENST00000561463.1																			0																																																			0							g.chr15:102304934_102304936delTCT	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304937_102304939delTCT														0	12980_12982	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.586	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		7	119						7	119	---	---	---	---
IL9RP3	729486	broad.mit.edu	37	16	81973	81974	+	RNA	INS	-	-	GTCC	rs369213970	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:81973_81974insGTCC	ENST00000568710.1	-	0	349																											ATCAGCAGGAGGCCCACCTCGT	0.614														377	0.0752796	0.2057	0.049	5008	,	,		9104	0.003		0.0437	False		,,,				2504	0.0245					ENST00000568710.1																			0																																																			0							g.chr16:81973_81974insGTCC																													16.37:g.81973_81974insGTCC														0	349	-									RNA	INS	ENST00000568710.1	37																																																																																						0.614	Z84812.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000420570.1			13	83						13	83	---	---	---	---
RAB40C	57799	broad.mit.edu	37	16	677580	677580	+	Frame_Shift_Del	DEL	C	C	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:677580delC	ENST00000248139.3	+	6	1007	c.804delC	c.(802-804)agcfs	p.S268fs	RAB40C_ENST00000538492.1_Frame_Shift_Del_p.S268fs|RAB40C_ENST00000535977.1_Frame_Shift_Del_p.S268fs|RAB40C_ENST00000539661.1_Frame_Shift_Del_p.S268fs	NM_021168.4	NP_066991.3	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	268					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CACCCCAGAGCCCCCCCCAGA	0.682																																					Melanoma(123;1631 1690 28262 44104 44957)	ENST00000535977.1																			1	Insertion - Frameshift(1)	p.Q271fs*7(1)	large_intestine(1)	NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6						c.(802-804)agfs		RAB40C, member RAS oncogene family							64.0	67.0	66.0					16																	677580		2201	4300	6501	SO:0001589	frameshift_variant	57799				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr16:677580delC	Z84779	CCDS10413.1	16p13.3	2008-07-28	2003-10-14		ENSG00000197562	ENSG00000197562		"""RAB, member RAS oncogene"""	18285	protein-coding gene	gene with protein product			"""RAS-like, family 8, member C"""	RASL8C		11697911, 18485483	Standard	NM_021168		Approved	RARL	uc021szv.1	Q96S21	OTTHUMG00000047854	ENST00000248139.3:c.804delC	16.37:g.677580delC	ENSP00000248139:p.Ser268fs					RAB40C_ENST00000539661.1_Frame_Shift_Del_p.S268fs|RAB40C_ENST00000538492.1_Frame_Shift_Del_p.S268fs|RAB40C_ENST00000248139.3_Frame_Shift_Del_p.S268fs	p.S268fs	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN			7	1026	+		Hepatocellular(780;0.0218)	268					A2IDE2|D3DU54|O60795|Q4TT41|Q5PXE8|Q6PIU5	Frame_Shift_Del	DEL	ENST00000248139.3	37	c.804delC	CCDS10413.1																																																																																				0.682	RAB40C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109079.4	NM_021168		7	343						7	343	---	---	---	---
ZNF75A	7627	broad.mit.edu	37	16	3367275	3367275	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:3367275delA	ENST00000574298.1	+	6	770	c.297delA	c.(295-297)tcafs	p.S99fs	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	99					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCGTCATATCAAAAAAGGCCA	0.393																																						ENST00000574298.1																			0				breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(295-297)tcfs		zinc finger protein 75a							66.0	65.0	66.0					16																	3367275		2197	4300	6497	SO:0001589	frameshift_variant	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367275delA	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.297delA	16.37:g.3367275delA	ENSP00000459566:p.Ser99fs					ZNF75A_ENST00000498240.2_3'UTR	p.S99fs	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN			6	770	+			99					Q0VDI8|Q92669	Frame_Shift_Del	DEL	ENST00000574298.1	37	c.297delA	CCDS10501.1																																																																																				0.393	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	NM_153028		7	824						7	824	---	---	---	---
UBN1	29855	broad.mit.edu	37	16	4910691	4910693	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:4910691_4910693delAGA	ENST00000396658.4	+	6	1401_1403	c.698_700delAGA	c.(697-702)gagaag>gag	p.K238del	UBN1_ENST00000590769.1_In_Frame_Del_p.K238del|UBN1_ENST00000262376.6_In_Frame_Del_p.K238del|UBN1_ENST00000545171.1_In_Frame_Del_p.K238del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	238	Lys-rich.				chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of phosphatase activity (GO:0010923)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K234E(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GCCAGTAAGGAGAAGAAGAAGAA	0.453																																						ENST00000396658.4																			1	Substitution - Missense(1)	p.K234E(1)	large_intestine(1)	NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(697-702)gag>g		ubinuclein 1																																				SO:0001651	inframe_deletion	29855				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:4910691_4910693delAGA	AF108460	CCDS10525.1, CCDS73822.1	16p13.3	2010-11-09			ENSG00000118900	ENSG00000118900			12506	protein-coding gene	gene with protein product		609771				10725330	Standard	XM_005255277		Approved		uc002cyb.3	Q9NPG3	OTTHUMG00000129531	ENST00000396658.4:c.698_700delAGA	16.37:g.4910700_4910702delAGA	ENSP00000379894:p.Lys238del					UBN1_ENST00000590769.1_In_Frame_Del_p.EK233del|UBN1_ENST00000545171.1_In_Frame_Del_p.EK233del|UBN1_ENST00000262376.6_In_Frame_Del_p.EK233del	p.EK233del	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN			6	1401_1403	+			233			Lys-rich.		B7Z6D3|D3DUE8|Q13079|Q9P1P7	In_Frame_Del	DEL	ENST00000396658.4	37	c.698_700delAGA	CCDS10525.1																																																																																				0.453	UBN1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251719.1	NM_016936		14	1101						14	1101	---	---	---	---
RRN3P1	730092	broad.mit.edu	37	16	21817398	21817399	+	RNA	INS	-	-	A	rs371932459|rs144931984|rs149686515		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:21817398_21817399insA	ENST00000546471.1	-	0	1607							Q2M238	RN3P1_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1																		TAAATGaaaataaaaaaataaa	0.302																																						ENST00000546471.1																			0																																																			0							g.chr16:21817398_21817399insA			16p12.2	2012-10-16			ENSG00000248124	ENSG00000248124			30548	pseudogene	pseudogene						12477932	Standard	NR_003370		Approved		uc010vbl.1	Q2M238	OTTHUMG00000170417		16.37:g.21817405_21817405dupA														0	1607	-								A8K6T4|B3KWX9|O75704	RNA	INS	ENST00000546471.1	37																																																																																						0.302	RRN3P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409035.1	NR_003370		21	78						21	78	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5626-5628)cccfs	p.P1876fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P1718fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P1814fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1876	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5623-5628)caccccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736370_30736371insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5633dupC	16.37:g.30736378_30736378dupC	ENSP00000262518:p.Pro1876fs					SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	p.HP1875fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	6010_6011	+			1875			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.5625_5626insC	CCDS10689.2																																																																																				0.569	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		12	545						12	545	---	---	---	---
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-	rs528891272	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaggaa>gaa	p.189_190EE>E		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.				visual perception (GO:0007601)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522																																						ENST00000268802.5																			0				breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(565-570)gaa>ga		NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	28987					nucleus	metal ion binding|protein binding	g.chr16:69782978_69782980delTCC	AB026125	CCDS10884.1	16q22.1	2008-02-05	2006-04-20	2006-04-20	ENSG00000141101	ENSG00000141101			29540	protein-coding gene	gene with protein product	"""nin one binding protein"""	613586	"""PSMD8 binding protein 1"""	PSMD8BP1		16172919	Standard	NM_014062		Approved	NOB1P, ART-4, MST158	uc002exs.4	Q9ULX3	OTTHUMG00000137576	ENST00000268802.5:c.567_569delGGA	16.37:g.69782987_69782989delTCC	ENSP00000268802:p.Glu191del						p.EE189del	NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN			6	596_598	-			189			Poly-Glu.		Q7L6B7|Q7M4M4|Q7Z4B5|Q9NWB0	In_Frame_Del	DEL	ENST00000268802.5	37	c.567_569delGGA	CCDS10884.1																																																																																				0.522	NOB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268958.2	NM_014062		11	323						11	323	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(895-897)del		telomeric repeat binding factor 2, interacting protein				1,182,4081		0,0,1,0,182,1949						-3.9	1.0			71	0,377,7877		0,0,0,1,375,3751	no	codingComplex	TERF2IP	NM_018975.3		0,0,1,1,557,5700	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5675,4.2917,4.4736				1,559,11958				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690204_75690206delGAA	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.895_897delGAA	16.37:g.75690213_75690215delGAA	ENSP00000300086:p.Glu304del						p.E304del	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	992_994	+			304			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.895_897delGAA	CCDS32491.1																																																																																				0.424	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		21	386						21	386	---	---	---	---
RP11-150D5.2	0	broad.mit.edu	37	16	76268905	76268905	+	lincRNA	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:76268905delT	ENST00000568714.1	-	0	135																											ttttcttttctttttttttGC	0.418																																						ENST00000568714.1																			0																																																			0							g.chr16:76268905delT																													16.37:g.76268905delT														0	135	-									RNA	DEL	ENST00000568714.1	37																																																																																						0.418	RP11-150D5.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000434958.1			7	238						7	238	---	---	---	---
TCF25	22980	broad.mit.edu	37	16	89951019	89951020	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr16:89951019_89951020insA	ENST00000263346.8	+	3	440_441	c.384_385insA	c.(385-387)aaafs	p.K129fs	TCF25_ENST00000563406.1_3'UTR|TCF25_ENST00000263347.7_5'Flank	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	129					heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		TCCGGAAGAAGAAAAAAAAACA	0.446																																						ENST00000263346.8																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18						c.(382-387)aaaaaafs		transcription factor 25 (basic helix-loop-helix)																																				SO:0001589	frameshift_variant	22980				heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr16:89951019_89951020insA	AF322111	CCDS10987.1	16q24.3	2008-02-05			ENSG00000141002	ENSG00000141002			29181	protein-coding gene	gene with protein product		612326				12107429, 16574069	Standard	NM_014972		Approved	Nulp1, KIAA1049	uc002fpb.2	Q9BQ70	OTTHUMG00000138986	ENST00000263346.8:c.393dupA	16.37:g.89951028_89951028dupA	ENSP00000263346:p.Lys129fs					TCF25_ENST00000563406.1_3'UTR	p.KK128fs	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0288)	3	440_441	+		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)	128					Q2MK75|Q9UPV3	Frame_Shift_Ins	INS	ENST00000263346.8	37	c.384_385insA	CCDS10987.1																																																																																				0.446	TCF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272875.2	NM_014972		8	132						8	132	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)ccafs	p.P540fs	SOX15_ENST00000570788.1_5'Flank|FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609																																						ENST00000250113.7																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P540fs*32(1)|p.A541fs*14(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1618-1620)cgcfs		fragile X mental retardation, autosomal homolog 2																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496121_7496122insG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1620dupC	17.37:g.7496129_7496129dupG	ENSP00000250113:p.Pro540fs						p.R540fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1953_1954	-			540					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.1619_1620insC	CCDS45604.1																																																																																				0.609	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	248						7	248	---	---	---	---
PIK3R5	23533	broad.mit.edu	37	17	8792116	8792118	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:8792116_8792118delCCT	ENST00000447110.1	-	10	1110_1112	c.986_988delAGG	c.(985-990)gaggtg>gtg	p.E329del	PIK3R5_ENST00000581552.1_In_Frame_Del_p.E329del|PIK3R5_ENST00000584803.1_In_Frame_Del_p.E329del	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	329				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						tcctcctccacctcctcctcctc	0.571																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(985-990)gtg>g		phosphoinositide-3-kinase, regulatory subunit 5																																				SO:0001651	inframe_deletion	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8792116_8792118delCCT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.986_988delAGG	17.37:g.8792125_8792127delCCT	ENSP00000392812:p.Glu329del					PIK3R5_ENST00000584803.1_In_Frame_Del_p.EV329del|PIK3R5_ENST00000581552.1_In_Frame_Del_p.EV329del	p.EV329del	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1110_1112	-			329	DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).				B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	In_Frame_Del	DEL	ENST00000447110.1	37	c.986_988delAGG	CCDS11147.1																																																																																				0.571	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		8	169						8	169	---	---	---	---
MED9	55090	broad.mit.edu	37	17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581																																						ENST00000268711.3																			0				cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						c.(337-339)del		mediator complex subunit 9																																				SO:0001651	inframe_deletion	55090				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding	g.chr17:17394705_17394707delCAG	BC000647	CCDS11184.1	17p11.2	2007-07-30	2007-07-30		ENSG00000141026	ENSG00000141026			25487	protein-coding gene	gene with protein product		609878	"""mediator of RNA polymerase II transcription, subunit 9 homolog (S. cerevisiae)"""			11997338	Standard	NM_018019		Approved	FLJ10193, MED25	uc002grh.1	Q9NWA0	OTTHUMG00000059293	ENST00000268711.3:c.337_339delCAG	17.37:g.17394714_17394716delCAG	ENSP00000268711:p.Gln117del						p.Q117del	NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN			2	393_395	+			117						In_Frame_Del	DEL	ENST00000268711.3	37	c.337_339delCAG	CCDS11184.1																																																																																				0.581	MED9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131669.2	NM_018019		7	517						7	517	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-	rs376314569|rs368840037		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:66141017delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAGATTTCTACAAAAAAAAAA	0.323																																						ENST00000590019.1																			0																																																			0							g.chr17:66141017delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141017delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.323	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			9	453						9	453	---	---	---	---
TNRC6C	57690	broad.mit.edu	37	17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr17:76046980delA	ENST00000588061.1	+	5	2564	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000335749.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|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)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522																																						ENST00000335749.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(1837-1839)aafs		trinucleotide repeat containing 6C			,	8,3764		1,6,1879	77.0	78.0	78.0		,	-0.2	0.8	17	dbSNP_130	79	42,7894		10,22,3936	no	frameshift,frameshift	TNRC6C	NM_018996.3,NM_001142640.1	,	11,28,5815	A1A1,A1R,RR		0.5292,0.2121,0.4271	,	,	76046980	50,11658	1966	4142	6108	SO:0001589	frameshift_variant	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76046980delA	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.1837delA	17.37:g.76046980delA	ENSP00000468647:p.Lys614fs					TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs	p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		3	2406	+			614			Sufficient for interaction with argonaute family proteins.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Frame_Shift_Del	DEL	ENST00000588061.1	37	c.1837delA	CCDS45798.1																																																																																				0.522	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996		8	533						8	533	---	---	---	---
MBD3	53615	broad.mit.edu	37	19	1578372	1578374	+	In_Frame_Del	DEL	CTC	CTC	-	rs371220154		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:1578372_1578374delCTC	ENST00000434436.3	-	6	970_972	c.841_843delGAG	c.(841-843)gagdel	p.E281del	MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000585967.1_5'Flank|MBD3_ENST00000590550.2_In_Frame_Del_p.E225del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|AC005943.5_ENST00000588960.1_lincRNA	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	281	Poly-Glu.				ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGGGTCGGGctcctcctcctcc	0.714																																						ENST00000590550.2																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(673-675)del		methyl-CpG binding domain protein 3				2,177,4065		0,0,2,3,171,1946						4.1	0.9			25	7,249,7984		0,0,7,1,247,3865	no	codingComplex	MBD3	NM_003926.5		0,0,9,4,418,5811	A1A1,A1A2,A1R,A2A2,A2R,RR		3.1068,4.2177,3.4845				9,426,12049				SO:0001651	inframe_deletion	53615				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding	g.chr19:1578372_1578374delCTC	AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.841_843delGAG	19.37:g.1578381_1578383delCTC	ENSP00000412302:p.Glu281del					MBD3_ENST00000156825.1_In_Frame_Del_p.E281del|MBD3_ENST00000592012.1_In_Frame_Del_p.E249del|MBD3_ENST00000434436.3_In_Frame_Del_p.E281del	p.E225del			O95983	MBD3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1046_1048	-		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	281					A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	In_Frame_Del	DEL	ENST00000434436.3	37	c.673_675delGAG	CCDS12072.1																																																																																				0.714	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449658.2	NM_003926		8	189						8	189	---	---	---	---
NWD1	284434	broad.mit.edu	37	19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:16908642delT	ENST00000552788.1	+	14	3404	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000524140.2_Frame_Shift_Del_p.V1135fs			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							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						GAGACGGCTGTTTTTGGTACT	0.552																																						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.(3403-3405)gtfs		NACHT and WD repeat domain containing 1							301.0	275.0	284.0					19																	16908642		2203	4300	6503	SO:0001589	frameshift_variant	284434						ATP binding	g.chr19:16908642delT	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.3404delT	19.37:g.16908642delT	ENSP00000447224:p.Val1135fs					NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs	p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN			16	3822	+			1135					C9J021|Q68CT3	Frame_Shift_Del	DEL	ENST00000552788.1	37	c.3404delT																																																																																					0.552	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	NM_001007525		7	1648						7	1648	---	---	---	---
ZNF567	163081	broad.mit.edu	37	19	37210374	37210375	+	Frame_Shift_Ins	INS	-	-	A			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:37210374_37210375insA	ENST00000536254.2	+	6	970_971	c.748_749insA	c.(748-750)gaafs	p.E250fs	ZNF567_ENST00000585696.1_Frame_Shift_Ins_p.E219fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.E219fs|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.E219fs|ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.E219fs			Q8N184	ZN567_HUMAN	zinc finger protein 567	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AACCAATATTGAAAAAAAACAT	0.351																																						ENST00000585696.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(655-657)aaafs		zinc finger protein 567																																				SO:0001589	frameshift_variant	163081				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37210374_37210375insA	AK093034	CCDS12495.1, CCDS74349.1	19q13.12	2013-10-08				ENSG00000189042		"""Zinc fingers, C2H2-type"", ""-"""	28696	protein-coding gene	gene with protein product						12477932	Standard	XM_006723064		Approved	MGC45586	uc002oep.4	Q8N184		ENST00000536254.2:c.756dupA	19.37:g.37210382_37210382dupA	ENSP00000441838:p.Glu250fs					ZNF567_ENST00000360729.4_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000392163.2_Frame_Shift_Ins_p.K219fs|ZNF567_ENST00000536254.2_Frame_Shift_Ins_p.K250fs|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000588311.1_Frame_Shift_Ins_p.K219fs	p.K219fs			Q8N184	ZN567_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		3	1885_1886	+	Esophageal squamous(110;0.198)		250					B3KX49|Q6N044	Frame_Shift_Ins	INS	ENST00000536254.2	37	c.655_656insA																																																																																					0.351	ZNF567-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000453549.1	NM_152603		7	303						7	303	---	---	---	---
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000588738.1_5'Flank|ERCC1_ENST00000300853.3_3'UTR|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						ENST00000309424.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(631-636)cgg>cg		CD3e molecule, epsilon associated protein			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					ERCC1_ENST00000300853.3_3'UTR|ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.RK213del	p.RK211del	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	3	1121_1123	+		all_neural(266;0.224)|Ovarian(192;0.231)	211					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.633_635delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099		12	490						12	490	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		8	238						8	238	---	---	---	---
NIFKP6	100132796	broad.mit.edu	37	19	51906669	51906670	+	lincRNA	INS	-	-	T	rs202017245		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:51906669_51906670insT	ENST00000600765.1	+	0	324_325																											GGTTGTTCTTGTTTTTTTTGCT	0.446																																						ENST00000600765.1																			0																																																			0							g.chr19:51906669_51906670insT																													19.37:g.51906677_51906677dupT														0	324_325	+									RNA	INS	ENST00000600765.1	37																																																																																						0.446	CTD-2616J11.14-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000465204.1			9	262						9	262	---	---	---	---
MIR518F	574472	broad.mit.edu	37	19	54200830	54200830	+	RNA	DEL	A	A	-	rs80268200		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:54200830delA	ENST00000384973.1	+	0	0				MIR525_ENST00000384978.1_RNA|MIR523_ENST00000385281.1_RNA|MIR519B_ENST00000385090.1_RNA	NR_030194.1				microRNA 518f																		CTCTTATGTGAAAAAAAAGAA	0.423																																						ENST00000384978.1																			0																				80.0	78.0	79.0					19																	54200830		1568	3582	5150			0							g.chr19:54200830delA			19q13.42	2011-09-12		2008-12-18	ENSG00000207706	ENSG00000207706		"""ncRNAs / Micro RNAs"""	32104	non-coding RNA	RNA, micro				MIRN518F			Standard	NR_030194		Approved	hsa-mir-518f	uc021uzx.1				19.37:g.54200830delA								NR_030192.1						0	44	+									RNA	DEL	ENST00000384973.1	37																																																																																						0.423	MIR518F-201	KNOWN	basic	miRNA	miRNA		NR_030194		9	584						9	584	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			10	363						10	363	---	---	---	---
LILRB3	11025	broad.mit.edu	37	19	54721186	54721186	+	Splice_Site	DEL	A	A	-	rs560928027	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr19:54721186delA	ENST00000391750.1	-	13	1886		c.e13+1		LILRA6_ENST00000270464.5_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site|LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAAGGACTCACCTCAGTGTC	0.607													|||unknown(NO_COVERAGE)	4	0.000798722	0.0015	0.0014	5008	,	,		15822	0.0		0.001	False		,,,				2504	0.0					ENST00000391750.1																			0				endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34						c.e13+1		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3			,	273,3943		12,249,1847	90.0	90.0	90.0		,	-0.9	0.0	19		93	386,7868		0,386,3741	no	splice-5,splice-5	LILRB3	NM_006864.2,NM_001081450.1	,	12,635,5588	A1A1,A1R,RR		4.6765,6.4753,5.2847	,	,	54721186	659,11811	2167	4299	6466	SO:0001630	splice_region_variant	11025				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	g.chr19:54721186delA	U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.1749+1T>-	19.37:g.54721186delA						LILRB3_ENST00000346401.6_Splice_Site|LILRB3_ENST00000245620.9_Splice_Site|LILRB3_ENST00000424807.1_Splice_Site|LILRB3_ENST00000469273.1_Splice_Site|LILRA6_ENST00000419410.2_Splice_Site|LILRB3_ENST00000407860.2_Splice_Site|LILRA6_ENST00000391735.3_Splice_Site|LILRA6_ENST00000440558.2_Splice_Site|LILRA6_ENST00000270464.5_Splice_Site				O75022	LIRB3_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1886	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)							C9J1P3|C9JIP1|O15471|Q86U49	Splice_Site	DEL	ENST00000391750.1	37		CCDS33105.1																																																																																				0.607	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	Intron	7	198						7	198	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																						ENST00000379333.1																			1	Deletion - Frameshift(1)	p.I412fs*4(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1231-1233)ccfs		solute carrier family 23 (ascorbic acid transporter), member 2							65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850569delG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs					SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			12	1625	-			411					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.1233delC	CCDS13085.1																																																																																				0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			16	254						16	254	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581679	17581680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:17581679_17581680insT	ENST00000246069.7	+	2	646_647	c.300_301insT	c.(301-303)tttfs	p.F101fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.F84fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	101	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(298-303)atttttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581679_17581680insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.308dupT	20.37:g.17581687_17581687dupT	ENSP00000246069:p.Phe101fs					DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs	p.IF100fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	646_647	+			100			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.300_301insT	CCDS13127.1																																																																																				0.356	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		9	450						9	450	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21143813	21143814	+	RNA	INS	-	-	T	rs536341837|rs371455437		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:21143813_21143814insT	ENST00000591761.1	-	0	5051				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							AAGCCATTCAATTTTTTTTTTC	0.371																																						ENST00000591761.1																			0																																																			0							g.chr20:21143813_21143814insT																													20.37:g.21143823_21143823dupT						PLK1S1_ENST00000457464.1_RNA								0	5051	-									RNA	INS	ENST00000591761.1	37																																																																																						0.371	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			12	380						12	380	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del|FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	105										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTAAAACAGCAGGAGAAGAAGAA	0.355																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(310-315)gca>gc																																						SO:0001651	inframe_deletion	0							g.chr20:29628310_29628312delAGG			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.312_314delAGG	20.37:g.29628310_29628312delAGG	ENSP00000278882:p.Gly105del					FRG1B_ENST00000439954.2_In_Frame_Del_p.AG109del|FRG1B_ENST00000358464.4_In_Frame_Del_p.AG104del	p.AG104del							6	692_694	+								C4AME5	In_Frame_Del	DEL	ENST00000278882.3	37	c.312_314delAGG																																																																																					0.355	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	488						8	488	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408346	50408348	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr20:50408346_50408348delGCT	ENST00000217086.4	-	2	785_787	c.674_676delAGC	c.(673-678)cagcta>cta	p.Q225del	SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_In_Frame_Del_p.Q225del	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	225					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCTGCTGTAGCTGCTGCTGCTG	0.645																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(673-678)cta>c		spalt-like transcription factor 4																																				SO:0001651	inframe_deletion	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408346_50408348delGCT	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.674_676delAGC	20.37:g.50408355_50408357delGCT	ENSP00000217086:p.Gln225del					SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_In_Frame_Del_p.QL225del	p.QL225del	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	785_787	-			225					A2A2D8|Q540H3|Q6Y8G6	In_Frame_Del	DEL	ENST00000217086.4	37	c.674_676delAGC	CCDS13438.1																																																																																				0.645	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			8	341						8	341	---	---	---	---
MSANTD2P1	100130310	broad.mit.edu	37	21	24474307	24474308	+	lincRNA	DEL	AA	AA	-	rs58069067|rs538240686|rs72441902|rs3079583	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr21:24474307_24474308delAA	ENST00000421604.1	+	0	297																											catttctactaaaaaaaaaaaa	0.49														2161	0.43151	0.1899	0.5562	5008	,	,		12488	0.4028		0.6163	False		,,,				2504	0.5092					ENST00000421604.1																			0																																																			0							g.chr21:24474307_24474308delAA																													21.37:g.24474317_24474318delAA														0	297	+									RNA	DEL	ENST00000421604.1	37																																																																																						0.490	AP001255.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171055.1			4	8						4	8	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			7	284						7	284	---	---	---	---
RANGAP1	5905	broad.mit.edu	37	22	41650469	41650471	+	In_Frame_Del	DEL	TCC	TCC	-	rs556869373		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chr22:41650469_41650471delTCC	ENST00000455915.2	-	10	2570_2572	c.1101_1103delGGA	c.(1099-1104)gaggaa>gaa	p.367_368EE>E	RANGAP1_ENST00000405486.1_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000356244.3_In_Frame_Del_p.367_368EE>E|RANGAP1_ENST00000407260.4_In_Frame_Del_p.312_313EE>E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	367	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ctcttctccttcctcctcctcct	0.562																																						ENST00000455915.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1099-1104)gaa>ga		Ran GTPase activating protein 1																																				SO:0001651	inframe_deletion	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650469_41650471delTCC	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1101_1103delGGA	22.37:g.41650478_41650480delTCC	ENSP00000401470:p.Glu368del					RANGAP1_ENST00000405486.1_In_Frame_Del_p.EE367del|RANGAP1_ENST00000407260.4_In_Frame_Del_p.EE312del|RANGAP1_ENST00000356244.3_In_Frame_Del_p.EE367del	p.EE367del			P46060	RAGP1_HUMAN			10	2570_2572	-			367			Asp/Glu-rich (highly acidic).		Q96JJ2	In_Frame_Del	DEL	ENST00000455915.2	37	c.1101_1103delGGA	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		8	524						8	524	---	---	---	---
TXLNG	55787	broad.mit.edu	37	X	16850849	16850850	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	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		9	507						9	507	---	---	---	---
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:21627678_21627680delGAG	ENST00000379510.3	+	20	2671_2673	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_ENST00000425654.2_In_Frame_Del_p.E856del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886	Poly-Glu.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517																																						ENST00000425654.2																			0				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(2545-2547)del		connector enhancer of kinase suppressor of Ras 2																																				SO:0001651	inframe_deletion	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21627678_21627680delGAG	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2635_2637delGAG	X.37:g.21627687_21627689delGAG	ENSP00000368824:p.Glu886del					CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del	p.E856del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			19	3025_3027	+			886					B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	In_Frame_Del	DEL	ENST00000379510.3	37	c.2545_2547delGAG	CCDS14198.1																																																																																				0.517	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		7	181						7	181	---	---	---	---
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:70360648_70360650delCAG	ENST00000374080.3	+	42	6240_6242	c.6208_6210delCAG	c.(6208-6210)cagdel	p.Q2076del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|AL590764.1_ENST00000579622.1_RNA|MED12_ENST00000333646.6_In_Frame_Del_p.Q2079del			Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															ENST00000333646.6				Dom	yes		X	Xq13	9968	"""M, S"""	mediator complex subunit 12	Yes	Opitz-Kaveggia Syndrome	M			uterine leiomyoma		0				breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420						c.(6217-6219)del		mediator complex subunit 12				7,109,3423		0,0,6,1,1,78,29,1439,461						2.6	0.4			23	29,192,5891		2,0,16,9,2,98,90,2148,1481	no	codingComplex	MED12	NM_005120.2		2,0,22,10,3,176,119,3587,1942	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		3.6158,3.2778,3.4919				36,301,9314				SO:0001651	inframe_deletion	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70360648_70360650delCAG	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6208_6210delCAG	X.37:g.70360657_70360659delCAG	ENSP00000363193:p.Gln2076del					MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del|MED12_ENST00000478889.1_3'UTR	p.Q2079del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN			42	6416_6418	+	Renal(35;0.156)		2076			Gln-rich.		O15410|O75557|Q9UHV6|Q9UND7	In_Frame_Del	DEL	ENST00000374080.3	37	c.6217_6219delCAG	CCDS43970.1																																																																																				0.621	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		7	201						7	201	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:76920173delT	ENST00000373344.5	-	11	4118	c.3904delA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTCCAGTTCTTTTTTTCCCT	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3904-3906)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						196.0	176.0	183.0					X																	76920173		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920173delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3904delA	X.37:g.76920173delT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs|ATRX_ENST00000480283.1_5'UTR	p.R1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3904delA	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		8	902						8	902	---	---	---	---
ZBTB33	10009	broad.mit.edu	37	X	119388276	119388278	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:119388276_119388278delGAT	ENST00000326624.2	+	2	1234_1236	c.1006_1008delGAT	c.(1006-1008)gatdel	p.D340del	ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	340					intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGAAATAATAGATGATGATGATG	0.433																																						ENST00000326624.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(1006-1008)del		zinc finger and BTB domain containing 33																																				SO:0001651	inframe_deletion	10009				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	g.chrX:119388276_119388278delGAT	BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1006_1008delGAT	X.37:g.119388285_119388287delGAT	ENSP00000314153:p.Asp340del					ZBTB33_ENST00000557385.1_In_Frame_Del_p.D340del	p.D340del	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN			2	1234_1236	+			340					B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	In_Frame_Del	DEL	ENST00000326624.2	37	c.1006_1008delGAT	CCDS14596.1																																																																																				0.433	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058085.2	NM_006777		10	679						10	679	---	---	---	---
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:135585048_135585050delAAG	ENST00000218364.4	+	5	856_858	c.682_684delAAG	c.(682-684)aagdel	p.K232del	HTATSF1_ENST00000535601.1_In_Frame_Del_p.K232del	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335																																						ENST00000535601.1																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30						c.(682-684)del		HIV-1 Tat specific factor 1																																				SO:0001651	inframe_deletion	27336				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding	g.chrX:135585048_135585050delAAG	U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.682_684delAAG	X.37:g.135585057_135585059delAAG	ENSP00000218364:p.Lys232del					HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN			6	1104_1106	+	Acute lymphoblastic leukemia(192;0.000127)		232			Poly-Lys.		D3DWG9|Q59G06|Q99730	In_Frame_Del	DEL	ENST00000218364.4	37	c.682_684delAAG	CCDS14657.1																																																																																				0.335	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058497.1	NM_014500		8	655						8	655	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-	rs7877654	byFrequency	TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P|CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(766-771)ccc>cc		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149937526_149937528delGGC	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.768_770delGCC	X.37:g.149937535_149937537delGGC	ENSP00000359403:p.Pro257del					CD99L2_ENST00000466436.1_In_Frame_Del_p.PP207del|CD99L2_ENST00000355149.3_In_Frame_Del_p.PP184del|CD99L2_ENST00000437787.2_In_Frame_Del_p.PP183del|CD99L2_ENST00000346693.4_5'UTR	p.PP256del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			11	885_887	-	Acute lymphoblastic leukemia(192;6.56e-05)		256			Poly-Pro.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.768_770delGCC	CCDS35427.1																																																																																				0.611	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	955						7	955	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		7	1048						7	1048	---	---	---	---
F8	2157	broad.mit.edu	37	X	154157980	154157980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:154157980delT	ENST00000360256.4	-	14	4285	c.4085delA	c.(4084-4086)aacfs	p.N1362fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1362	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGTTTCATGTTTTTGGACCA	0.438																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120						c.(4084-4086)acfs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)						253.0	213.0	227.0					X																	154157980		2203	4300	6503	SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154157980delT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4085delA	X.37:g.154157980delT	ENSP00000353393:p.Asn1362fs						p.N1362fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	4285	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1362			B.		Q14286|Q5HY69	Frame_Shift_Del	DEL	ENST00000360256.4	37	c.4085delA	CCDS35457.1																																																																																				0.438	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			10	1732						10	1732	---	---	---	---
F8	2157	broad.mit.edu	37	X	154158427	154158428	+	Frame_Shift_Ins	INS	-	-	T	rs387906450		TCGA-S4-A8RP-01A-11D-A36O-08	TCGA-S4-A8RP-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	317e480a-3ba4-44b1-9920-557bc1b4c4ee	5f6753a1-efa7-4751-b4ae-2b230620b524	g.chrX:154158427_154158428insT	ENST00000360256.4	-	14	3837_3838	c.3637_3638insA	c.(3637-3639)attfs	p.I1213fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1213	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTCCTGAATTTTTTTTTCT	0.327																																						ENST00000360256.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	GRCh37	CD930955|CI962274	F8	D|I		c.(3637-3639)tcafs		coagulation factor VIII, procoagulant component	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)																																			SO:0001589	frameshift_variant	2157				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding	g.chrX:154158427_154158428insT	M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.3638dupA	X.37:g.154158436_154158436dupT	ENSP00000353393:p.Ile1213fs						p.S1213fs	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN			14	3837_3838	-	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		1213			B.		Q14286|Q5HY69	Frame_Shift_Ins	INS	ENST00000360256.4	37	c.3637_3638insA	CCDS35457.1																																																																																				0.327	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4			8	353						8	353	---	---	---	---
