#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
UPP2	151531	broad.mit.edu	37	2	158971631	158971631	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:158971631A>G	ENST00000005756.4	+	3	393	c.199A>G	c.(199-201)Agc>Ggc	p.S67G	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000409859.4_Missense_Mutation_p.S124G|UPP2_ENST00000605860.1_Missense_Mutation_p.S124G	NM_173355.3	NP_775491.1	O95045	UPP2_HUMAN	uridine phosphorylase 2	67					nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside metabolic process (GO:0009116)|nucleotide catabolic process (GO:0009166)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|small molecule metabolic process (GO:0044281)|UMP salvage (GO:0044206)|uridine metabolic process (GO:0046108)	cytosol (GO:0005829)|type III intermediate filament (GO:0045098)	uridine phosphorylase activity (GO:0004850)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31					Fluorouracil(DB00544)	TGTCGGTGGGAGCCCCAACAG	0.428																																						ENST00000605860.1																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(370-372)Agc>Ggc		uridine phosphorylase 2							86.0	88.0	87.0					2																	158971631		2203	4300	6503	SO:0001583	missense	151531				nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity	g.chr2:158971631A>G	AY225131	CCDS2207.1, CCDS46435.1	2q24.2	2008-02-05			ENSG00000007001	ENSG00000007001			23061	protein-coding gene	gene with protein product						12849978	Standard	NM_173355		Approved	UPASE2, UP2, UDRPASE2	uc002tzo.3	O95045	OTTHUMG00000131969	ENST00000005756.4:c.199A>G	2.37:g.158971631A>G	ENSP00000005756:p.Ser67Gly					UPP2_ENST00000409859.4_Missense_Mutation_p.S124G|UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.S67G	p.S124G			O95045	UPP2_HUMAN			6	416	+			67					B3KV87	Missense_Mutation	SNP	ENST00000005756.4	37	c.370A>G	CCDS2207.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.270039	0.80469	.	.	ENSG00000007001	ENST00000409859;ENST00000005756	D;D	0.88975	-2.45;-2.45	5.44	5.44	0.79542	Nucleoside phosphorylase domain (1);	0.000000	0.85682	D	0.000000	D	0.92599	0.7649	M	0.87038	2.855	0.80722	D	1	D	0.63880	0.993	P	0.50617	0.646	D	0.93817	0.7115	10	0.87932	D	0	.	14.3298	0.66548	1.0:0.0:0.0:0.0	.	67	O95045	UPP2_HUMAN	G	124;67	ENSP00000387230:S124G;ENSP00000005756:S67G	ENSP00000005756:S67G	S	+	1	0	UPP2	158679877	1.000000	0.71417	0.996000	0.52242	0.684000	0.39900	7.331000	0.79192	2.065000	0.61736	0.533000	0.62120	AGC		0.428	UPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254929.2	NM_173355		31	330	0	0	0	0.139131	0	31	330				
KAT6A	7994	broad.mit.edu	37	8	41790659	41790659	+	Silent	SNP	T	T	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:41790659T>G	ENST00000396930.3	-	18	5622	c.5079A>C	c.(5077-5079)ccA>ccC	p.P1693P	KAT6A_ENST00000265713.2_Silent_p.P1693P|KAT6A_ENST00000406337.1_Silent_p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1693	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										ggggagggggtgggggtggag	0.627																																						ENST00000396930.3																			0											c.(5077-5079)ccA>ccC		K(lysine) acetyltransferase 6A							16.0	18.0	18.0					8																	41790659		2196	4293	6489	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41790659T>G	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5079A>C	8.37:g.41790659T>G						KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P	p.P1693P	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			18	5622	-			1693			Gln/Pro-rich.		Q76L81	Silent	SNP	ENST00000396930.3	37	c.5079A>C	CCDS6124.1																																																																																				0.627	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		15	56	0	0	0	0.064281	0	15	56				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		6	446	0	0	0	0.058154	0	6	446				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					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)		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						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				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.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	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.chr2:109371498G>A	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.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		9	1013	0	0	0	0.069234	0	9	1013				
IL16	3603	broad.mit.edu	37	15	81592482	81592482	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81592482G>A	ENST00000302987.4	+	13	2815	c.2815G>A	c.(2815-2817)Gac>Aac	p.D939N	IL16_ENST00000394652.2_Missense_Mutation_p.D238N|IL16_ENST00000394660.2_Missense_Mutation_p.D939N			Q14005	IL16_HUMAN	interleukin 16	939					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCCTGGCCCGGACCCGCTCCT	0.657																																						ENST00000394660.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2815-2817)Gac>Aac		interleukin 16							28.0	33.0	31.0					15																	81592482		2203	4300	6503	SO:0001583	missense	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592482G>A	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2815G>A	15.37:g.81592482G>A	ENSP00000302935:p.Asp939Asn					IL16_ENST00000394652.2_Missense_Mutation_p.D238N|IL16_ENST00000302987.4_Missense_Mutation_p.D939N	p.D939N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	3175	+			939					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	37	c.2815G>A	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.211166	0.79240	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653;ENST00000394652;ENST00000394656	T;T;T	0.11495	2.77;2.78;3.37	4.85	4.85	0.62838	.	0.267702	0.26731	N	0.022788	T	0.24928	0.0605	L	0.46157	1.445	0.36294	D	0.856591	D;D;D;D;B;D	0.89917	0.997;0.965;1.0;1.0;0.166;0.991	P;P;D;D;B;P	0.83275	0.844;0.703;0.994;0.996;0.017;0.798	T	0.08126	-1.0737	10	0.62326	D	0.03	.	11.7533	0.51862	0.0853:0.0:0.9147:0.0	.	771;432;476;329;939;939	F8W7Z5;Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;.;IL16_HUMAN;.	N	939;771;939;476;329;238;238	ENSP00000378155:D939N;ENSP00000302935:D939N;ENSP00000378147:D238N	ENSP00000302935:D939N	D	+	1	0	IL16	79379537	0.986000	0.35501	0.367000	0.25926	0.037000	0.13140	3.537000	0.53590	2.236000	0.73375	0.655000	0.94253	GAC		0.657	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		6	296	0	0	0	0.021553	0	6	296				
WDFY1	57590	broad.mit.edu	37	2	224758990	224758990	+	Silent	SNP	G	G	A	rs374953968		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:224758990G>A	ENST00000233055.4	-	8	894	c.792C>T	c.(790-792)ggC>ggT	p.G264G		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	264						cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|zinc ion binding (GO:0008270)			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CTGCAATTCCGCCGTCCGAGG	0.557																																						ENST00000233055.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18						c.(790-792)ggC>ggT		WD repeat and FYVE domain containing 1		G		1,4405	2.1+/-5.4	0,1,2202	174.0	129.0	145.0		792	-5.0	0.9	2		145	0,8600		0,0,4300	no	coding-synonymous	WDFY1	NM_020830.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		264/411	224758990	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57590					cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding	g.chr2:224758990G>A	AB037856	CCDS33387.1	2q36.2	2013-01-09	2003-03-13		ENSG00000085449	ENSG00000085449		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20451	protein-coding gene	gene with protein product			"""WD40 and FYVE domain containing 1"""			11739631	Standard	NM_020830		Approved	KIAA1435, FENS-1, WDF1, ZFYVE17	uc002vnq.3	Q8IWB7	OTTHUMG00000153370	ENST00000233055.4:c.792C>T	2.37:g.224758990G>A							p.G264G	NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)	8	894	-		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)	264					Q53S17|Q9H9D5|Q9P2B3	Silent	SNP	ENST00000233055.4	37	c.792C>T	CCDS33387.1																																																																																				0.557	WDFY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330908.1	NM_020830		8	302	0	0	0	0.047766	0	8	302				
MUC20	200958	broad.mit.edu	37	3	195453332	195453332	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:195453332G>A	ENST00000447234.2	+	2	1984	c.1858G>A	c.(1858-1860)Ggg>Agg	p.G620R	MUC20_ENST00000445522.2_Missense_Mutation_p.G585R|MUC20_ENST00000320736.6_Missense_Mutation_p.G449R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	620	Involved in oligomerization.|Thr-rich.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CAGCAGCCGAGGGACGAACAG	0.612																																						ENST00000320736.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23						c.(1345-1347)Ggg>Agg		mucin 20, cell surface associated																																				SO:0001583	missense	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453332G>A	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1858G>A	3.37:g.195453332G>A	ENSP00000414350:p.Gly620Arg					MUC20_ENST00000447234.2_Missense_Mutation_p.G620R|MUC20_ENST00000436408.1_Missense_Mutation_p.G620R|MUC20_ENST00000445522.2_Missense_Mutation_p.G585R	p.G449R	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1471	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	620					Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Missense_Mutation	SNP	ENST00000447234.2	37	c.1345G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.15|11.15	1.553505|1.553505	0.27739|0.27739	.|.	.|.	ENSG00000176945|ENSG00000176945	ENST00000381954;ENST00000447234;ENST00000320736;ENST00000436408;ENST00000445522|ENST00000423938	T;T;T;T|T	0.13901|0.21932	2.97;2.98;3.15;2.55|1.98	4.83|4.83	2.02|2.02	0.26589|0.26589	.|.	1.113110|.	0.06939|.	N|.	0.812407|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	P|.	0.35844|.	0.524|.	B|.	0.38500|.	0.275|.	T|T	0.37407|0.37407	-0.9707|-0.9707	10|7	0.17369|0.19147	T|T	0.5|0.46	1.6052|1.6052	6.2028|6.2028	0.20585|0.20585	0.3217:0.0:0.6783:0.0|0.3217:0.0:0.6783:0.0	.|.	449|.	E9PH32|.	.|.	R|K	431;620;449;620;585|31	ENSP00000414350:G620R;ENSP00000325431:G449R;ENSP00000396774:G620R;ENSP00000405629:G585R|ENSP00000397774:R31K	ENSP00000325431:G449R|ENSP00000397774:R31K	G|R	+|+	1|2	0|0	MUC20|MUC20	196939003|196939003	0.024000|0.024000	0.19004|0.19004	0.002000|0.002000	0.10522|0.10522	0.002000|0.002000	0.02628|0.02628	1.013000|1.013000	0.29937|0.29937	0.320000|0.320000	0.23234|0.23234	-0.140000|-0.140000	0.14226|0.14226	GGG|AGG		0.612	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1	NM_152673		7	624	0	0	0	0.093190	0	7	624				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			9	217	0	0	0	0.119110	0	9	217				
BAI1	575	broad.mit.edu	37	8	143603440	143603440	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:143603440C>T	ENST00000517894.1	+	21	4033	c.3139C>T	c.(3139-3141)Cgc>Tgc	p.R1047C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1047					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCTCCGGAACCGCCTCATCCG	0.657																																						ENST00000517894.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(3139-3141)Cgc>Tgc		brain-specific angiogenesis inhibitor 1							31.0	41.0	38.0					8																	143603440		2198	4299	6497	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143603440C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3139C>T	8.37:g.143603440C>T	ENSP00000430945:p.Arg1047Cys					BAI1_ENST00000323289.5_Missense_Mutation_p.R1047C	p.R1047C			O14514	BAI1_HUMAN			21	4033	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		1047						Missense_Mutation	SNP	ENST00000517894.1	37	c.3139C>T		.	.	.	.	.	.	.	.	.	.	C	14.72	2.619636	0.46736	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.50813	0.73;0.73	3.78	2.89	0.33648	.	0.162599	0.41938	U	0.000782	T	0.49762	0.1576	M	0.83603	2.65	0.58432	D	0.999992	B	0.16802	0.019	B	0.17433	0.018	T	0.51593	-0.8686	10	0.72032	D	0.01	.	9.8607	0.41112	0.0:0.897:0.0:0.103	.	1047	E9PBK0	.	C	1047	ENSP00000430945:R1047C;ENSP00000313046:R1047C	ENSP00000313046:R1047C	R	+	1	0	BAI1	143600442	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.563000	0.60823	0.558000	0.29135	0.305000	0.20034	CGC		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		11	203	0	0	0	0.093190	0	11	203				
TRIOBP	11078	broad.mit.edu	37	22	38120006	38120006	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38120006T>C	ENST00000406386.3	+	7	1698	c.1443T>C	c.(1441-1443)tgT>tgC	p.C481C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	481					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C481C(3)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGTGCCCAGCGGG	0.592																																						ENST00000406386.3																			3	Substitution - coding silent(3)	p.C481C(3)	kidney(2)|large_intestine(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1441-1443)tgT>tgC		TRIO and F-actin binding protein							52.0	51.0	51.0					22																	38120006		1899	4072	5971	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120006T>C	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1443T>C	22.37:g.38120006T>C						RP1-37E16.12_ENST00000455236.1_RNA	p.C481C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1698	+	Melanoma(58;0.0574)		481					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1443T>C	CCDS43015.1																																																																																				0.592	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			10	805	0	0	0	0.038147	0	10	805				
ARAP1	116985	broad.mit.edu	37	11	72422096	72422096	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:72422096G>A	ENST00000393609.3	-	9	1385	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000359373.5_Nonsense_Mutation_p.R395*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	395	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GCAAAGGTTCGGTTGTTTGTG	0.547																																					Ovarian(102;1198 1520 13195 17913 37529)	ENST00000359373.5																			0				cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						c.(1183-1185)Cga>Tga		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1							160.0	128.0	139.0					11																	72422096		2200	4293	6493	SO:0001587	stop_gained	116985				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding	g.chr11:72422096G>A	AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.1183C>T	11.37:g.72422096G>A	ENSP00000377233:p.Arg395*					ARAP1_ENST00000393605.3_Nonsense_Mutation_p.R155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.R150*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.R395*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.R150*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.R395*	p.R395*			Q96P48	ARAP1_HUMAN			9	2034	-			395			PH 1.		A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	Nonsense_Mutation	SNP	ENST00000393609.3	37	c.1183C>T	CCDS41687.1	.	.	.	.	.	.	.	.	.	.	G	45	11.461141	0.99564	.	.	ENSG00000186635	ENST00000359373;ENST00000455638;ENST00000393605;ENST00000334211;ENST00000393609;ENST00000426523;ENST00000429686;ENST00000340247	.	.	.	5.52	4.61	0.57282	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.6244	0.62155	0.0:0.0:0.8439:0.1561	.	.	.	.	X	395;395;155;150;395;150;150;184	.	ENSP00000335506:R150X	R	-	1	2	ARAP1	72099744	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.092000	0.50207	1.343000	0.45638	-0.152000	0.13540	CGA		0.547	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347428.1	NM_001040118		31	626	0	0	0	0.153744	0	31	626				
BMS1P20	96610	broad.mit.edu	37	22	22662971	22662971	+	RNA	SNP	A	A	G	rs370670957		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:22662971A>G	ENST00000426066.1	+	0	500					NR_027293.1				BMS1 pseudogene 20																		TGTAAGTAAAATTCACTTTGG	0.323																																						ENST00000426066.1																			0																																																			0							g.chr22:22662971A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22662971A>G								NR_027293.1						0	500	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.323	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	31	0	0	0	0.150653	0	3	31				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		6	193	0	0	0	0.021553	0	6	193				
GRIN2A	2903	broad.mit.edu	37	16	9862737	9862737	+	Missense_Mutation	SNP	G	G	A	rs201072838	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:9862737G>A	ENST00000396573.2	-	13	2875	c.2566C>T	c.(2566-2568)Cgg>Tgg	p.R856W	GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	856					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AACCCAGGCCGGTCGGAGCAC	0.567																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(2566-2568)Cgg>Tgg		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						90.0	94.0	93.0					16																	9862737		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:9862737G>A		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.2566C>T	16.37:g.9862737G>A	ENSP00000379818:p.Arg856Trp					GRIN2A_ENST00000562109.1_Missense_Mutation_p.R856W|GRIN2A_ENST00000535259.1_Missense_Mutation_p.R699W|GRIN2A_ENST00000330684.3_Missense_Mutation_p.R856W|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R856W|GRIN2A_ENST00000404927.2_Missense_Mutation_p.R856W	p.R856W	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			13	2875	-			856					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.2566C>T	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066263	0.76187	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.12984	2.63;2.63;2.63;2.63;2.63	4.44	3.33	0.38152	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.155509	0.56097	D	0.000031	T	0.28928	0.0718	M	0.64997	1.995	0.37896	D	0.930866	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.70016	0.944;0.967;0.913	T	0.04885	-1.0920	9	.	.	.	.	9.4317	0.38615	0.0:0.0:0.5699:0.4301	.	699;856;856	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	W	856;856;699;856;856	ENSP00000379818:R856W;ENSP00000385872:R856W;ENSP00000441572:R699W;ENSP00000332549:R856W;ENSP00000379820:R856W	.	R	-	1	2	GRIN2A	9770238	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.673000	0.61604	2.170000	0.68504	0.563000	0.77884	CGG		0.567	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			17	813	0	0	0	0.175082	0	17	813				
POU2F1	5451	broad.mit.edu	37	1	167385027	167385027	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:167385027A>G	ENST00000541643.3	+	17	2374	c.2212A>G	c.(2212-2214)Acc>Gcc	p.T738A	POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_Missense_Mutation_p.T750A|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACCACCACCACCGCCTCCAA	0.582																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2248-2250)Acc>Gcc		POU class 2 homeobox 1							78.0	82.0	81.0					1																	167385027		2201	4300	6501	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385027A>G	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2212A>G	1.37:g.167385027A>G	ENSP00000441285:p.Thr738Ala					POU2F1_ENST00000367866.2_Missense_Mutation_p.T761A|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_Missense_Mutation_p.T738A|POU2F1_ENST00000429375.2_Missense_Mutation_p.T698A	p.T750A	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2483	+			738					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.2248A>G		.	.	.	.	.	.	.	.	.	.	A	12.01	1.809648	0.31961	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000541643;ENST00000367862	D;D;D;D;D	0.86097	-2.07;-2.03;-2.05;-2.04;-2.05	5.91	4.79	0.61399	.	0.919652	0.09285	N	0.823231	T	0.56232	0.1971	N	0.22421	0.69	0.31475	N	0.667872	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.001;0.0	T	0.26538	-1.0100	9	0.17832	T	0.49	.	6.4637	0.21970	0.7877:0.0:0.0736:0.1387	.	698;750;736;738	B4E029;P14859-2;P14859-3;P14859	.;.;.;PO2F1_HUMAN	A	761;698;736;738;750	ENSP00000356840:T761A;ENSP00000401217:T698A;ENSP00000356839:T736A;ENSP00000441285:T738A;ENSP00000356836:T750A	ENSP00000356836:T750A	T	+	1	0	POU2F1	165651651	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.700000	0.61803	1.072000	0.40860	0.533000	0.62120	ACC		0.582	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	770	0	0	0	0.069234	0	7	770				
EWSR1	2130	broad.mit.edu	37	22	29695793	29695793	+	Missense_Mutation	SNP	A	A	C	rs200316952		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29695793A>C	ENST00000397938.2	+	16	2202	c.1883A>C	c.(1882-1884)cAg>cCg	p.Q628P	EWSR1_ENST00000332050.6_Missense_Mutation_p.Q555P|EWSR1_ENST00000406548.1_Missense_Mutation_p.Q627P|EWSR1_ENST00000331029.7_Missense_Mutation_p.Q590P|EWSR1_ENST00000414183.2_Missense_Mutation_p.Q633P|EWSR1_ENST00000332035.6_Missense_Mutation_p.Q572P	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	628	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGATGGAACAGATGGGAGGA	0.602			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1882-1884)cAg>cCg		EWS RNA-binding protein 1							28.0	31.0	30.0					22																	29695793		2203	4300	6503	SO:0001583	missense	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695793A>C		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1883A>C	22.37:g.29695793A>C	ENSP00000381031:p.Gln628Pro					EWSR1_ENST00000332035.6_Missense_Mutation_p.Q572P|EWSR1_ENST00000332050.6_Missense_Mutation_p.Q555P|EWSR1_ENST00000331029.7_Missense_Mutation_p.Q590P|EWSR1_ENST00000406548.1_Missense_Mutation_p.Q627P|EWSR1_ENST00000414183.2_Missense_Mutation_p.Q633P	p.Q628P	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			16	2202	+			628			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Missense_Mutation	SNP	ENST00000397938.2	37	c.1883A>C	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991921	0.54041	.	.	ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035	D;D;D;D;D;D	0.96522	-3.95;-3.43;-3.57;-4.04;-3.57;-3.42	5.17	5.17	0.71159	.	0.000000	0.49305	U	0.000144	D	0.94997	0.8381	L	0.36672	1.1	0.41806	D	0.989942	D;D;D;D;D	0.61080	0.989;0.963;0.963;0.963;0.963	P;B;B;B;B	0.50825	0.651;0.425;0.425;0.425;0.425	D	0.94641	0.7830	10	0.39692	T	0.17	.	15.0248	0.71659	1.0:0.0:0.0:0.0	.	572;627;572;633;628	Q96MN4;Q96FE8;B0QYK1;Q96MX4;Q01844	.;.;.;.;EWS_HUMAN	P	555;628;627;590;633;572	ENSP00000330896:Q555P;ENSP00000381031:Q628P;ENSP00000385726:Q627P;ENSP00000330516:Q590P;ENSP00000400142:Q633P;ENSP00000331699:Q572P	ENSP00000330516:Q590P	Q	+	2	0	EWSR1	28025793	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.616000	0.61197	1.946000	0.56461	0.455000	0.32223	CAG		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		5	110	0	0	0	0.014758	0	5	110				
RP1L1	94137	broad.mit.edu	37	8	10465022	10465022	+	Missense_Mutation	SNP	T	T	C	rs200407750		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:10465022T>C	ENST00000382483.3	-	4	6809	c.6586A>G	c.(6586-6588)Ata>Gta	p.I2196V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2276	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCTCTATACCTTCTGAC	0.612																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(6586-6588)Ata>Gta		retinitis pigmentosa 1-like 1							158.0	172.0	168.0					8																	10465022		1877	4104	5981	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10465022T>C	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6586A>G	8.37:g.10465022T>C	ENSP00000371923:p.Ile2196Val						p.I2196V	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	6809	-			2196					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.6586A>G	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	T	3.257	-0.152028	0.06585	.	.	ENSG00000183638	ENST00000382483	T	0.07444	3.19	1.74	-3.47	0.04753	.	.	.	.	.	T	0.03827	0.0108	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43798	-0.9369	9	0.28530	T	0.3	.	8.8709	0.35316	0.0:0.4591:0.0:0.5409	.	2196	A6NKC6	.	V	2196	ENSP00000371923:I2196V	ENSP00000371923:I2196V	I	-	1	0	RP1L1	10502432	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.368000	0.07543	-0.995000	0.03459	-0.375000	0.07067	ATA		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			16	1668	0	0	0	0.175082	0	16	1668				
NFE2L3	9603	broad.mit.edu	37	7	26225102	26225102	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:26225102G>A	ENST00000056233.3	+	4	2043	c.1784G>A	c.(1783-1785)tGt>tAt	p.C595Y		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	595	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.C595Y(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						GCGCAGAACTGTCGTAAACGC	0.368																																						ENST00000056233.3																			1	Substitution - Missense(1)	p.C595Y(1)	kidney(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1783-1785)tGt>tAt		nuclear factor, erythroid 2-like 3							61.0	58.0	59.0					7																	26225102		2203	4299	6502	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26225102G>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1784G>A	7.37:g.26225102G>A	ENSP00000056233:p.Cys595Tyr						p.C595Y	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	2043	+			595					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1784G>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483904	0.84854	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	D	0.92858	-3.12	5.71	5.71	0.89125	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.97213	0.9089	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97705	1.0187	10	0.87932	D	0	-5.5783	19.4639	0.94931	0.0:0.0:1.0:0.0	.	595	Q9Y4A8	NF2L3_HUMAN	Y	595;300	ENSP00000056233:C595Y	ENSP00000056233:C595Y	C	+	2	0	NFE2L3	26191627	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.984000	0.88150	2.703000	0.92315	0.591000	0.81541	TGT		0.368	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			5	225	0	0	0	0.058154	0	5	225				
KRTAP5-7	440050	broad.mit.edu	37	11	71238705	71238705	+	Missense_Mutation	SNP	G	G	A	rs536797652		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:71238705G>A	ENST00000398536.4	+	1	393	c.359G>A	c.(358-360)tGc>tAc	p.C120Y		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	120	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.C120Y(2)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						tgtaagccctgctgctgccag	0.607													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20154	0.0		0.0	False		,,,				2504	0.0					ENST00000398536.4																			2	Substitution - Missense(2)	p.C120Y(2)	kidney(2)	breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(358-360)tGc>tAc		keratin associated protein 5-7							129.0	139.0	136.0					11																	71238705		2200	4294	6494	SO:0001583	missense	440050					keratin filament		g.chr11:71238705G>A	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.359G>A	11.37:g.71238705G>A	ENSP00000417330:p.Cys120Tyr						p.C120Y	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	393	+			120			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Missense_Mutation	SNP	ENST00000398536.4	37	c.359G>A	CCDS41682.1	.	.	.	.	.	.	.	.	.	.	N	4.462	0.085611	0.08583	.	.	ENSG00000244411	ENST00000398536	T	0.01304	5.03	1.87	1.87	0.25490	.	.	.	.	.	T	0.01421	0.0046	L	0.60455	1.87	0.26143	N	0.980242	B	0.12630	0.006	B	0.08055	0.003	T	0.51733	-0.8668	9	0.02654	T	1	.	4.3831	0.11304	0.201:0.0:0.799:0.0	.	120	Q6L8G8	KRA57_HUMAN	Y	120	ENSP00000417330:C120Y	ENSP00000417330:C120Y	C	+	2	0	KRTAP5-7	70916353	0.718000	0.27976	0.999000	0.59377	0.075000	0.17131	2.143000	0.42187	1.367000	0.46095	0.289000	0.19496	TGC		0.607	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			12	1533	0	0	0	0.119110	0	12	1533				
SNX21	90203	broad.mit.edu	37	20	44469465	44469465	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:44469465G>A	ENST00000491381.1	+	4	703	c.635G>A	c.(634-636)cGt>cAt	p.R212H	SNX21_ENST00000342644.5_Intron|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372542.1_Missense_Mutation_p.R203H|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000462307.1_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	212	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				ATTGCCCGCCGTAGCCGGGCC	0.642																																						ENST00000372542.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7						c.(607-609)cGt>cAt		sorting nexin family member 21							40.0	48.0	45.0					20																	44469465		2202	4296	6498	SO:0001583	missense	90203				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding	g.chr20:44469465G>A	AK095851	CCDS13376.1, CCDS13377.1, CCDS42883.1	20q13.12	2013-01-10	2006-07-24	2006-07-24	ENSG00000124104	ENSG00000124104		"""Sorting nexins"", ""Tetratricopeptide (TTC) repeat domain containing"""	16154	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 161"""	C20orf161		12461558, 12459172	Standard	NM_152897		Approved	dJ337O18.4, SNX-L	uc002xpv.1	Q969T3	OTTHUMG00000032624	ENST00000491381.1:c.635G>A	20.37:g.44469465G>A	ENSP00000418593:p.Arg212His					SNX21_ENST00000462307.1_3'UTR|SNX21_ENST00000491381.1_Missense_Mutation_p.R212H|SNX21_ENST00000344780.4_3'UTR|SNX21_ENST00000372541.1_3'UTR|SNX21_ENST00000342644.5_Intron	p.R203H			Q969T3	SNX21_HUMAN			3	920	+		Myeloproliferative disorder(115;0.0122)	212			PX.		Q5JZH5|Q5JZH6|Q5JZH7|Q8WUR6|Q9BR16	Missense_Mutation	SNP	ENST00000491381.1	37	c.608G>A	CCDS13377.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.829655	0.91036	.	.	ENSG00000124104	ENST00000491381;ENST00000372542	T;T	0.61392	0.11;0.11	4.32	4.32	0.51571	Phox homologous domain (5);	0.057521	0.64402	D	0.000002	T	0.79557	0.4466	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84538	0.0637	10	0.87932	D	0	-11.7488	15.9699	0.80004	0.0:0.0:1.0:0.0	.	203;212	Q5JZH3;Q969T3	.;SNX21_HUMAN	H	212;203	ENSP00000418593:R212H;ENSP00000361620:R203H	ENSP00000361620:R203H	R	+	2	0	SNX21	43902872	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.801000	0.91905	2.249000	0.74217	0.462000	0.41574	CGT		0.642	SNX21-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079534.1	NM_033421		5	366	0	0	0	0.014758	0	5	366				
KRTAP5-10	387273	broad.mit.edu	37	11	71276918	71276918	+	Silent	SNP	C	C	T	rs375555617		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:71276918C>T	ENST00000398531.1	+	1	310	c.285C>T	c.(283-285)ggC>ggT	p.G95G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	95	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G95G(1)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGGGCTGTGGCTCCTGTGGGG	0.687																																						ENST00000398531.1																			1	Substitution - coding silent(1)	p.G95G(1)	upper_aerodigestive_tract(1)	endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						c.(283-285)ggC>ggT		keratin associated protein 5-10		C		161,4009		0,161,1924	35.0	55.0	48.0		285	-0.0	0.2	11		48	119,8289		0,119,4085	no	coding-synonymous	KRTAP5-10	NM_001012710.1		0,280,6009	TT,TC,CC		1.4153,3.8609,2.2261		95/203	71276918	280,12298	2085	4204	6289	SO:0001819	synonymous_variant	387273					keratin filament		g.chr11:71276918C>T	AB126079	CCDS41684.1	11q13.4	2008-02-05			ENSG00000204572	ENSG00000204572		"""Keratin associated proteins"""	23605	protein-coding gene	gene with protein product						15144888	Standard	NM_001012710		Approved	KRTAP5.10	uc001oqt.1	Q6L8G5	OTTHUMG00000057585	ENST00000398531.1:c.285C>T	11.37:g.71276918C>T						KRTAP5-10_ENST00000376536.4_Intron	p.G95G	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN			1	310	+			95			7 X 4 AA repeats of C-C-X-P.		B9EHA4	Silent	SNP	ENST00000398531.1	37	c.285C>T	CCDS41684.1																																																																																				0.687	KRTAP5-10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000127968.2			20	568	0	0	0	0.183431	0	20	568				
ZNF780A	284323	broad.mit.edu	37	19	40581109	40581109	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:40581109T>C	ENST00000595687.2	-	6	1449	c.1240A>G	c.(1240-1242)Ata>Gta	p.I414V	ZNF780A_ENST00000450241.2_Missense_Mutation_p.I380V|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|AC005614.5_ENST00000595508.1_RNA	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I415V(1)|p.I380V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTATACCAGCATGA	0.383																																						ENST00000450241.2																			2	Substitution - Missense(2)	p.I415V(1)|p.I380V(1)	lung(2)	breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(1138-1140)Ata>Gta		zinc finger protein 780A							178.0	182.0	180.0					19																	40581109		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581109T>C	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.1240A>G	19.37:g.40581109T>C	ENSP00000472189:p.Ile414Val					ZNF780A_ENST00000340963.5_Missense_Mutation_p.I414V|ZNF780A_ENST00000594395.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000595687.2_Missense_Mutation_p.I414V|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.I415V|ZNF780A_ENST00000414720.2_Intron	p.I380V			O75290	Z780A_HUMAN			6	1449	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		414					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.1138A>G	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	T	10.67	1.415046	0.25552	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.16897	2.31;2.31	1.93	0.83	0.18854	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.31641	-0.9936	9	0.59425	D	0.04	.	8.0199	0.30404	0.0:0.8348:0.0:0.1652	.	415;414	E9PB48;O75290	.;Z780A_HUMAN	V	414;415;414	ENSP00000400997:I415V;ENSP00000341507:I414V	ENSP00000341507:I414V	I	-	1	0	ZNF780A	45272949	0.003000	0.15002	0.007000	0.13788	0.407000	0.30961	1.030000	0.30153	-0.222000	0.09958	-1.945000	0.00491	ATA		0.383	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	NM_001010880		7	1104	0	0	0	0.021553	0	7	1104				
CDT1	81620	broad.mit.edu	37	16	88871873	88871873	+	Missense_Mutation	SNP	C	C	T	rs3218727	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:88871873C>T	ENST00000301019.4	+	4	1133	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGCCTACCAGCGCTTCCATGC	0.677													C|||	8	0.00159744	0.0061	0.0	5008	,	,		14178	0.0		0.0	False		,,,				2504	0.0				Melanoma(159;511 3380 30971)	ENST00000301019.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(514-516)Cgc>Tgc		chromatin licensing and DNA replication factor 1		C	CYS/ARG	15,4381	22.3+/-47.3	1,13,2184	31.0	37.0	35.0		514	3.7	1.0	16	dbSNP_106	35	0,8590		0,0,4295	yes	missense	CDT1	NM_030928.3	180	1,13,6479	TT,TC,CC		0.0,0.3412,0.1155	probably-damaging	172/547	88871873	15,12971	2198	4295	6493	SO:0001583	missense	81620				DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding	g.chr16:88871873C>T	AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.514C>T	16.37:g.88871873C>T	ENSP00000301019:p.Arg172Cys						p.R172C	NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0476)	4	1133	+			172		R -> C (in dbSNP:rs3218727).	Interaction with GMNN.			Missense_Mutation	SNP	ENST00000301019.4	37	c.514C>T	CCDS32510.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644116	0.87859	0.003412	0.0	ENSG00000167513	ENST00000301019	T	0.28255	1.62	4.68	3.66	0.41972	.	0.111388	0.64402	D	0.000007	T	0.56217	0.1970	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.64089	-0.6489	10	0.87932	D	0	-22.4772	15.3458	0.74337	0.0:0.8602:0.1398:0.0	rs3218727	172	Q9H211	CDT1_HUMAN	C	172	ENSP00000301019:R172C	ENSP00000301019:R172C	R	+	1	0	CDT1	87399374	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	3.838000	0.55828	2.319000	0.78375	0.462000	0.41574	CGC		0.677	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000423215.1	NM_030928		9	348	0	0	0	0.069234	0	9	348				
KNDC1	85442	broad.mit.edu	37	10	134997481	134997481	+	Missense_Mutation	SNP	G	G	A	rs545007203		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:134997481G>A	ENST00000304613.3	+	5	634	c.613G>A	c.(613-615)Gga>Aga	p.G205R	KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R|KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	205	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CGAGTCCTTCGGAGCGCTGCA	0.582													g|||	1	0.000199681	0.0008	0.0	5008	,	,		20334	0.0		0.0	False		,,,				2504	0.0					ENST00000304613.3																			0				NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60						c.(613-615)Gga>Aga		kinase non-catalytic C-lobe domain (KIND) containing 1							153.0	128.0	137.0					10																	134997481		2203	4300	6503	SO:0001583	missense	85442				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction			g.chr10:134997481G>A	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.613G>A	10.37:g.134997481G>A	ENSP00000304437:p.Gly205Arg					KNDC1_ENST00000368571.2_Missense_Mutation_p.G140R|KNDC1_ENST00000368572.2_Missense_Mutation_p.G205R	p.G205R			Q76NI1	VKIND_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)	5	634	+		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)	205			KIND 1.		B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Missense_Mutation	SNP	ENST00000304613.3	37	c.613G>A	CCDS7674.1	.	.	.	.	.	.	.	.	.	.	G	17.87	3.494056	0.64186	.	.	ENSG00000171798	ENST00000304613;ENST00000368572;ENST00000368571	T;T;T	0.20598	2.54;2.54;2.06	4.15	4.15	0.48705	KIND (2);	0.492334	0.17935	U	0.157032	T	0.41766	0.1173	L	0.57536	1.79	0.38641	D	0.951614	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.41520	-0.9504	10	0.87932	D	0	-17.3865	12.7092	0.57080	0.0:0.0:1.0:0.0	.	140;205	Q76NI1-2;Q76NI1	.;VKIND_HUMAN	R	205;205;140	ENSP00000304437:G205R;ENSP00000357561:G205R;ENSP00000357560:G140R	ENSP00000304437:G205R	G	+	1	0	KNDC1	134847471	0.995000	0.38212	0.998000	0.56505	0.682000	0.39822	3.501000	0.53325	2.255000	0.74692	0.450000	0.29827	GGA		0.582	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000277044.3	NM_152643		13	304	0	0	0	0.093190	0	13	304				
POLM	27434	broad.mit.edu	37	7	44112788	44112788	+	3'UTR	SNP	T	T	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:44112788T>G	ENST00000242248.5	-	0	1688				POLM_ENST00000492971.1_5'Flank|POLM_ENST00000335195.6_3'UTR|POLM_ENST00000395831.3_Missense_Mutation_p.H467P	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu						DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CGGGGAGGGGTGAAGGTGGGG	0.632								DNA polymerases (catalytic subunits)																														ENST00000395831.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						c.(1399-1401)cAc>cCc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), mu																																				SO:0001624	3_prime_UTR_variant	27434				DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	g.chr7:44112788T>G	AF176097	CCDS34625.1, CCDS64635.1, CCDS64636.1	7p13	2012-05-18			ENSG00000122678	ENSG00000122678		"""DNA polymerases"""	9185	protein-coding gene	gene with protein product	"""Pol iota"""	606344				10982892	Standard	XM_005249708		Approved	Tdt-N	uc003tjt.3	Q9NP87	OTTHUMG00000155353	ENST00000242248.5:c.*102A>C	7.37:g.44112788T>G						POLM_ENST00000242248.5_3'UTR|POLM_ENST00000335195.6_3'UTR	p.H467P			Q9NP87	DPOLM_HUMAN			9	1446	-			0					D3DVK4|Q6P5X8|Q86WQ9	Missense_Mutation	SNP	ENST00000242248.5	37	c.1400A>C	CCDS34625.1	.	.	.	.	.	.	.	.	.	.	T	13.47	2.246820	0.39697	.	.	ENSG00000122678	ENST00000395831	T	0.27256	1.68	3.06	-1.26	0.09376	.	0.105573	0.64402	D	0.000005	T	0.14184	0.0343	.	.	.	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.13818	-1.0495	9	0.87932	D	0	.	2.8964	0.05692	0.0:0.2973:0.2456:0.4571	.	467	Q86WQ9	.	P	467	ENSP00000379174:H467P	ENSP00000379174:H467P	H	-	2	0	POLM	44079313	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	-0.060000	0.11712	-0.008000	0.14320	0.374000	0.22700	CAC		0.632	POLM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339594.1	NM_013284		15	29	0	0	0	0.144211	0	15	29				
VPS13D	55187	broad.mit.edu	37	1	12423195	12423195	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:12423195G>A	ENST00000358136.3	+	52	10470	c.10340G>A	c.(10339-10341)cGg>cAg	p.R3447Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)									p.R3447Q(1)		NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CACTGGCCTCGGAATGACTAT	0.453																																						ENST00000358136.3																			1	Substitution - Missense(1)	p.R3447Q(1)	prostate(1)	NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(10339-10341)cGg>cAg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							254.0	221.0	232.0					1																	12423195		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12423195G>A	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.10340G>A	1.37:g.12423195G>A	ENSP00000350854:p.Arg3447Gln					VPS13D_ENST00000356315.4_Missense_Mutation_p.R3422Q	p.R3447Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	52	10470	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3446						Missense_Mutation	SNP	ENST00000358136.3	37	c.10340G>A	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.752959|5.752959	0.96890|0.96890	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|T;T	.|0.33438	.|1.41;1.41	6.06|6.06	6.06|6.06	0.98353|0.98353	.|Vacuolar protein sorting-associated protein (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55561|0.55561	0.1928|0.1928	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.994;1.0	.|D;D	.|0.87578	.|0.956;0.998	T|T	0.35943|0.35943	-0.9768|-0.9768	5|10	.|0.31617	.|T	.|0.26	.|.	20.6208|20.6208	0.99490|0.99490	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3422;3446	.|Q5THJ4-2;Q5THJ4	.|.;VP13D_HUMAN	R|Q	2269|3422;3447	.|ENSP00000348666:R3422Q;ENSP00000350854:R3447Q	.|ENSP00000348666:R3422Q	G|R	+|+	1|2	0|0	VPS13D|VPS13D	12345782|12345782	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.863000|0.863000	0.49368|0.49368	9.434000|9.434000	0.97515|0.97515	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.453	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		16	438	0	0	0	0.132662	0	16	438				
PRB3	5544	broad.mit.edu	37	12	11420929	11420929	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:11420929C>T	ENST00000279573.7	-	3	389	c.254G>A	c.(253-255)gGa>gAa	p.G85E	PRB3_ENST00000538488.1_Missense_Mutation_p.G85E|PRB3_ENST00000381842.3_Missense_Mutation_p.G85E|PRB3_ENST00000440870.3_5'UTR			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	85	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)	extracellular region (GO:0005576)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGTTTCCTCCTTGTGGGGG	0.632																																						ENST00000381842.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25								proline-rich protein BstNI subfamily 3							141.0	174.0	163.0					12																	11420929		2126	4246	6372	SO:0001583	missense	5544					extracellular region	Gram-negative bacterial cell surface binding	g.chr12:11420929C>T			12p13.2	2012-10-02				ENSG00000197870			9339	protein-coding gene	gene with protein product		168840				1894623	Standard	NM_006249		Approved	PRG	uc001qzs.3	Q04118		ENST00000279573.7:c.254G>A	12.37:g.11420929C>T	ENSP00000279573:p.Gly85Glu					PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000538488.1_RNA		NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.201)		0	291	-								Q15188|Q4VAY3|Q4VAY4|Q7M4M9|Q9UCT9	RNA	SNP	ENST00000279573.7	37			.	.	.	.	.	.	.	.	.	.	.	5.982	0.365151	0.11296	.	.	ENSG00000197870	ENST00000381842;ENST00000538488	T;T	0.05786	3.39;3.39	0.948	0.948	0.19561	.	.	.	.	.	T	0.11879	0.0289	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.61658	0.892	T	0.23154	-1.0196	8	0.35671	T	0.21	.	3.2489	0.06807	0.0:0.7096:0.0:0.2904	.	85	Q04118	PRB3_HUMAN	E	85	ENSP00000371264:G85E;ENSP00000442626:G85E	ENSP00000279573:G85E	G	-	2	0	PRB3	11312196	0.000000	0.05858	0.016000	0.15963	0.094000	0.18550	-0.274000	0.08537	0.819000	0.34492	0.194000	0.17425	GGA		0.632	PRB3-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000402119.5	NM_006249		12	1942	0	0	0	0.021553	0	12	1942				
COL6A6	131873	broad.mit.edu	37	3	130284081	130284081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:130284081G>A	ENST00000358511.6	+	3	936	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	302	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTTTCTCCCCGAACTGGGAAG	0.478																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(904-906)cGa>cAa		collagen, type VI, alpha 6							68.0	71.0	70.0					3																	130284081		1860	4096	5956	SO:0001583	missense	131873				axon guidance|cell adhesion	collagen		g.chr3:130284081G>A	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.905G>A	3.37:g.130284081G>A	ENSP00000351310:p.Arg302Gln					COL6A6_ENST00000453409.2_Missense_Mutation_p.R302Q	p.R302Q	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			3	936	+			302			Nonhelical region.|VWFA 2.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	c.905G>A	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	G	0.090	-1.169073	0.01660	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78364	-1.17;-1.17	5.01	-2.32	0.06745	von Willebrand factor, type A (3);	1.188040	0.06089	N	0.663415	T	0.57036	0.2026	N	0.04387	-0.21	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.38178	-0.9673	10	0.26408	T	0.33	.	12.8264	0.57723	0.4013:0.0:0.5987:0.0	.	302	A6NMZ7	CO6A6_HUMAN	Q	302	ENSP00000351310:R302Q;ENSP00000399236:R302Q	ENSP00000351310:R302Q	R	+	2	0	COL6A6	131766771	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.959000	0.03853	-0.497000	0.06641	-0.459000	0.05422	CGA		0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		11	429	0	0	0	0.069234	0	11	429				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977377	29977377	+	RNA	SNP	C	C	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:29977377C>G	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TTTGTGACTTCAAGAACCCTG	0.458																																						ENST00000376797.3																			0																																																			0							g.chr6:29977377C>G	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977377C>G						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.458	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		6	177	0	0	0	0.119110	0	6	177				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		14	197	0	0	0	0.043863	0	14	197				
TCHH	7062	broad.mit.edu	37	1	152082320	152082320	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:152082320T>C	ENST00000368804.1	-	2	3372	c.3373A>G	c.(3373-3375)Aga>Gga	p.R1125G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1125	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cgttcctctctcagcagctgc	0.612																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3373-3375)Aga>Gga		trichohyalin							93.0	94.0	94.0					1																	152082320		1979	4139	6118	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082320T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3373A>G	1.37:g.152082320T>C	ENSP00000357794:p.Arg1125Gly						p.R1125G	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3372	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1125			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3373A>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	T	5.521	0.281051	0.10458	.	.	ENSG00000159450	ENST00000368804	T	0.06849	3.25	2.38	1.02	0.19986	.	.	.	.	.	T	0.04407	0.0121	L	0.29908	0.895	0.09310	N	1	D	0.58268	0.982	P	0.59171	0.853	T	0.40590	-0.9555	9	0.28530	T	0.3	.	5.1512	0.15011	0.0:0.0:0.3026:0.6974	.	1125	Q07283	TRHY_HUMAN	G	1125	ENSP00000357794:R1125G	ENSP00000357794:R1125G	R	-	1	2	TCHH	150348944	0.001000	0.12720	0.006000	0.13384	0.018000	0.09664	1.171000	0.31896	0.940000	0.37473	0.379000	0.24179	AGA		0.612	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		7	681	0	0	0	0.038147	0	7	681				
THRB	7068	broad.mit.edu	37	3	24231773	24231773	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:24231773G>A	ENST00000356447.4	-	4	359	c.75C>T	c.(73-75)caC>caT	p.H25H	THRB_ENST00000396671.2_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	NM_000461.4|NM_001128177.1	NP_000452.2|NP_001121649.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	25	Modulating.				female courtship behavior (GO:0008050)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of female receptivity (GO:0007621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|sensory perception of sound (GO:0007605)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|Type I pneumocyte differentiation (GO:0060509)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GCTTCCAGTCGTGTTCTCGGT	0.493																																					Melanoma(21;896 1043 15021 37958)	ENST00000396671.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19						c.(73-75)caC>caT		thyroid hormone receptor, beta	Levothyroxine(DB00451)|Liothyronine(DB00279)						177.0	159.0	165.0					3																	24231773		2203	4300	6503	SO:0001819	synonymous_variant	7068				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr3:24231773G>A		CCDS2641.1	3p24.2	2013-01-16	2011-05-19		ENSG00000151090	ENSG00000151090		"""Nuclear hormone receptors"""	11799	protein-coding gene	gene with protein product	"""avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2"", ""oncogene ERBA2"", ""generalized resistance to thyroid hormone"", ""thyroid hormone receptor beta 1"""	190160	"""thyroid hormone receptor, beta (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog 2)"", ""pituitary resistance to thyroid hormone"", ""thyroid hormone receptor, beta (erythroblastic leukemia viral (v-erb-a) oncogene homolog 2, avian)"""	ERBA2, PRTH		1973914, 8040303	Standard	NM_000461		Approved	THRB1, THRB2, NR1A2, THR1, ERBA-BETA, GRTH	uc003ccy.4	P10828	OTTHUMG00000130478	ENST00000356447.4:c.75C>T	3.37:g.24231773G>A						THRB_ENST00000356447.4_Silent_p.H25H|THRB_ENST00000416420.1_Silent_p.H25H	p.H25H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN			5	423	-			25			Modulating.		B3KU79|P37243|Q13986|Q3KP35|Q6WGL2|Q9UD41	Silent	SNP	ENST00000356447.4	37	c.75C>T	CCDS2641.1	.	.	.	.	.	.	.	.	.	.	G	7.584	0.669381	0.14776	.	.	ENSG00000151090	ENST00000416811	.	.	.	5.93	2.09	0.27110	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.38566	D	0.949829	.	.	.	.	.	.	T	0.64236	-0.6455	5	0.87932	D	0	.	8.5522	0.33458	0.0713:0.5866:0.2416:0.1005	.	.	.	.	M	25	.	ENSP00000414401:T25M	T	-	2	0	THRB	24206777	0.992000	0.36948	0.664000	0.29753	0.990000	0.78478	0.216000	0.17585	0.095000	0.17434	-0.175000	0.13238	ACG		0.493	THRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252877.3	NM_000461		5	404	0	0	0	0.014758	0	5	404				
CELF2	10659	broad.mit.edu	37	10	11363283	11363283	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:11363283G>A	ENST00000379261.4	+	11	1281	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T	CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2-AS1_ENST00000379256.3_RNA|CELF2_ENST00000608830.1_Missense_Mutation_p.A377T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000315874.4_Missense_Mutation_p.A379T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000609692.1_Missense_Mutation_p.A377T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	397	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing (GO:0006397)|regulation of heart contraction (GO:0008016)|RNA processing (GO:0006396)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						CGCAGCCGCCGCGCTGCCCAC	0.657																																						ENST00000379261.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						c.(1189-1191)Gcg>Acg		CUGBP, Elav-like family member 2							34.0	38.0	37.0					10																	11363283		2062	4187	6249	SO:0001583	missense	10659				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr10:11363283G>A	U69546	CCDS41488.1, CCDS44354.1, CCDS44355.1, CCDS44356.1	10p13	2013-02-12	2010-02-19	2010-02-19	ENSG00000048740	ENSG00000048740		"""RNA binding motif (RRM) containing"""	2550	protein-coding gene	gene with protein product		602538	"""CUG triplet repeat, RNA-binding protein 2"", ""CUG triplet repeat, RNA binding protein 2"""	CUGBP2		7869393, 9887331	Standard	NM_006561		Approved	Etr-3, NAPOR-2, BRUNOL3	uc001ikl.4	O95319	OTTHUMG00000017668	ENST00000379261.4:c.1189G>A	10.37:g.11363283G>A	ENSP00000368563:p.Ala397Thr					CELF2_ENST00000537122.1_Missense_Mutation_p.A292T|CELF2_ENST00000354897.3_Missense_Mutation_p.A391T|CELF2_ENST00000427450.1_Missense_Mutation_p.A379T|CELF2_ENST00000399850.3_Missense_Mutation_p.A379T|CELF2_ENST00000542579.1_Missense_Mutation_p.A410T|CELF2_ENST00000315874.3_Missense_Mutation_p.A379T|CELF2_ENST00000354440.2_Missense_Mutation_p.A379T|CELF2_ENST00000417956.2_Missense_Mutation_p.A377T|CELF2_ENST00000416382.2_Missense_Mutation_p.A397T|CELF2_ENST00000450189.1_Missense_Mutation_p.A410T	p.A397T	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN			11	1281	+			397			Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.		B7ZAN9|Q7KYU4|Q8N499|Q92950|Q96NW9|Q96RQ5|Q96RQ6|Q9UL67	Missense_Mutation	SNP	ENST00000379261.4	37	c.1189G>A	CCDS44354.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.318107	0.81469	.	.	ENSG00000048740	ENST00000379261;ENST00000416382;ENST00000450189;ENST00000542579;ENST00000399850;ENST00000417956;ENST00000315874;ENST00000354440;ENST00000354897;ENST00000427450;ENST00000537122;ENST00000538632	T;T;T;T;T;T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26;-0.26	5.33	5.33	0.75918	.	0.186321	0.32753	N	0.005686	T	0.79094	0.4388	M	0.62723	1.935	0.80722	D	1	P;P;B;D;P;D	0.76494	0.802;0.802;0.078;0.999;0.898;0.991	P;P;B;D;B;P	0.68621	0.471;0.471;0.029;0.959;0.378;0.776	T	0.73836	-0.3857	10	0.25106	T	0.35	-1.3418	19.2874	0.94084	0.0:0.0:1.0:0.0	.	385;403;398;410;410;397	B4DDE7;B4DS31;B2RA86;E9PC62;O95319-3;O95319	.;.;.;.;.;CELF2_HUMAN	T	397;397;410;410;379;377;379;379;387;379;292;203	ENSP00000368563:A397T;ENSP00000406451:A397T;ENSP00000389951:A410T;ENSP00000443926:A410T;ENSP00000382743:A379T;ENSP00000404834:A377T;ENSP00000315328:A379T;ENSP00000346426:A379T;ENSP00000388530:A379T;ENSP00000438884:A292T	ENSP00000315328:A379T	A	+	1	0	CELF2	11403289	1.000000	0.71417	0.344000	0.25628	0.982000	0.71751	9.591000	0.98241	2.789000	0.95967	0.558000	0.71614	GCG		0.657	CELF2-201	KNOWN	basic|CCDS	protein_coding	protein_coding				11	288	0	0	0	0.093190	0	11	288				
EWSR1	2130	broad.mit.edu	37	22	29695789	29695789	+	Nonsense_Mutation	SNP	G	G	T	rs202103106	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29695789G>T	ENST00000397938.2	+	16	2198	c.1879G>T	c.(1879-1881)Gaa>Taa	p.E627*	EWSR1_ENST00000332050.6_Nonsense_Mutation_p.E554*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.E626*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.E589*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.E632*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.E571*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	627	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCTTTGATGGAACAGATGGG	0.602			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1879-1881)Gaa>Taa		EWS RNA-binding protein 1							28.0	31.0	30.0					22																	29695789		2203	4299	6502	SO:0001587	stop_gained	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695789G>T		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1879G>T	22.37:g.29695789G>T	ENSP00000381031:p.Glu627*					EWSR1_ENST00000332035.6_Nonsense_Mutation_p.E571*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.E554*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.E589*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.E626*|EWSR1_ENST00000414183.2_Nonsense_Mutation_p.E632*	p.E627*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			16	2198	+			627			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Nonsense_Mutation	SNP	ENST00000397938.2	37	c.1879G>T	CCDS13851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	6.007276|6.007276	0.97195|0.97195	.|.	.|.	ENSG00000182944|ENSG00000182944	ENST00000332050;ENST00000397938;ENST00000406548;ENST00000331029;ENST00000414183;ENST00000332035|ENST00000360091	.|.	.|.	.|.	5.05|5.05	4.03|4.03	0.46877|0.46877	.|.	0.000000|.	0.52532|.	U|.	0.000077|.	.|T	.|0.68860	.|0.3047	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.67703	.|-0.5602	.|4	0.66056|.	D|.	0.02|.	.|.	13.4134|13.4134	0.60956|0.60956	0.0762:0.0:0.9238:0.0|0.0762:0.0:0.9238:0.0	.|.	.|.	.|.	.|.	X|V	554;627;626;589;632;571|278	.|.	ENSP00000330516:E589X|.	E|G	+|+	1|2	0|0	EWSR1|EWSR1	28025789|28025789	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	5.208000|5.208000	0.65203|0.65203	1.123000|1.123000	0.41961|0.41961	0.460000|0.460000	0.39030|0.39030	GAA|GGA		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		5	110	1	0	0.000602214	0.014758	0.000628284	5	110				
SHROOM3	57619	broad.mit.edu	37	4	77661903	77661903	+	Silent	SNP	C	C	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:77661903C>G	ENST00000296043.6	+	5	3530	c.2577C>G	c.(2575-2577)tcC>tcG	p.S859S		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	859					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AAGAGGCTTCCCGGCAGCCCT	0.632																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(2575-2577)tcC>tcG		shroom family member 3							31.0	36.0	35.0					4																	77661903		2201	4295	6496	SO:0001819	synonymous_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77661903C>G	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2577C>G	4.37:g.77661903C>G							p.S859S	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	3530	+			859					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Silent	SNP	ENST00000296043.6	37	c.2577C>G	CCDS3579.2																																																																																				0.632	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		13	369	0	0	0	0.093190	0	13	369				
MIR513A2	574510	broad.mit.edu	37	X	146307386	146307386	+	RNA	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:146307386G>T	ENST00000385249.1	-	0	84					NR_030232.1				microRNA 513a-2																		acccttctcagaaaggtgaaa	0.478																																						ENST00000385249.1																			0																				107.0	88.0	94.0					X																	146307386		1568	3579	5147			0							g.chrX:146307386G>T			Xq27.3	2011-09-12	2008-01-07	2008-12-18	ENSG00000207984	ENSG00000207984		"""ncRNAs / Micro RNAs"""	32142	non-coding RNA	RNA, micro			"""microRNA 513-2"""	MIRN513-2, MIRN513A-2, MIRN513A2			Standard	NR_030232		Approved	hsa-mir-513-2					X.37:g.146307386G>T								NR_030232.1						0	84	-									RNA	SNP	ENST00000385249.1	37																																																																																						0.478	MIR513A2-201	KNOWN	basic	miRNA	miRNA		NR_030232		8	354	1	0	1.12685e-05	0.047766	1.19635e-05	8	354				
KRTAP10-5	386680	broad.mit.edu	37	21	45999841	45999841	+	Silent	SNP	A	A	G	rs183168612	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:45999841A>G	ENST00000400372.1	-	1	640	c.615T>C	c.(613-615)tgT>tgC	p.C205C	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	205	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.C205C(2)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AAGCCGGCTGACAGCTAGACT	0.632													.|||	12	0.00239617	0.0061	0.0029	5008	,	,		22259	0.0		0.0	False		,,,				2504	0.002					ENST00000400372.1																			2	Substitution - coding silent(2)	p.C205C(2)	lung(1)|prostate(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(613-615)tgT>tgC		keratin associated protein 10-5							155.0	160.0	158.0					21																	45999841		2203	4300	6503	SO:0001819	synonymous_variant	386680					keratin filament		g.chr21:45999841A>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.615T>C	21.37:g.45999841A>G						TSPEAR_ENST00000323084.4_Intron	p.C205C	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	640	-			205			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Silent	SNP	ENST00000400372.1	37	c.615T>C	CCDS42958.1																																																																																				0.632	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			11	1441	0	0	0	0.047766	0	11	1441				
TUBBP5	643224	broad.mit.edu	37	9	141070064	141070064	+	RNA	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:141070064G>A	ENST00000503395.1	+	0	1144									tubulin, beta pseudogene 5																		TGGCAGGTACGTGCCCCGCGC	0.716																																						ENST00000503395.1																			0																																																			0							g.chr9:141070064G>A	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070064G>A														0	1144	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.716	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		8	282	0	0	0	0.080935	0	8	282				
XKR4	114786	broad.mit.edu	37	8	56436505	56436505	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:56436505G>A	ENST00000327381.6	+	3	1772	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N	RP11-628E19.2_ENST00000522918.1_RNA	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	558						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTGTCAGCGACCGCGATCA	0.587																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1672-1674)Gac>Aac		XK, Kell blood group complex subunit-related family, member 4							68.0	70.0	69.0					8																	56436505		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56436505G>A	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.1672G>A	8.37:g.56436505G>A	ENSP00000328326:p.Asp558Asn						p.D558N	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		3	1772	+			558					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.1672G>A	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413709	0.42817	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.82984	-1.67	5.95	5.95	0.96441	.	0.453459	0.26616	N	0.023398	T	0.77665	0.4164	L	0.43152	1.355	0.50813	D	0.99989	B	0.33748	0.423	B	0.26094	0.066	T	0.73445	-0.3980	10	0.21014	T	0.42	-4.3001	20.3931	0.98965	0.0:0.0:1.0:0.0	.	558	Q5GH76	XKR4_HUMAN	N	558	ENSP00000328326:D558N	ENSP00000328326:D558N	D	+	1	0	XKR4	56599059	1.000000	0.71417	0.862000	0.33874	0.008000	0.06430	7.863000	0.87023	2.824000	0.97209	0.655000	0.94253	GAC		0.587	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		5	330	0	0	0	0.014758	0	5	330				
CREBBP	1387	broad.mit.edu	37	16	3790494	3790494	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:3790494G>A	ENST00000262367.5	-	24	4848	c.4039C>T	c.(4039-4041)Cgg>Tgg	p.R1347W	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1347	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTCTGGCGCCGCAAAAATTTG	0.562			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.(4039-4041)Cgg>Tgg		CREB binding protein							72.0	74.0	73.0					16																	3790494		2197	4300	6497	SO:0001583	missense	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3790494G>A	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4039C>T	16.37:g.3790494G>A	ENSP00000262367:p.Arg1347Trp					CREBBP_ENST00000382070.3_Missense_Mutation_p.R1309W	p.R1347W	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	24	4848	-		Ovarian(90;0.0266)	1347			Cys/His-rich.		D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.4039C>T	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	g	17.54	3.414250	0.62511	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.93547	-3.24;-3.24	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	D	0.95133	0.8423	L	0.51422	1.61	0.48341	D	0.999638	D;D	0.89917	1.0;1.0	D;D	0.69142	0.962;0.962	D	0.95489	0.8567	10	0.87932	D	0	-30.9344	15.2156	0.73264	0.0:0.0:0.859:0.141	.	1377;1347	Q4LE28;Q92793	.;CBP_HUMAN	W	1347;1377;1309	ENSP00000262367:R1347W;ENSP00000371502:R1309W	ENSP00000262367:R1347W	R	-	1	2	CREBBP	3730495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.297000	0.51810	2.503000	0.84419	0.555000	0.69702	CGG		0.562	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		5	363	0	0	0	0.029380	0	5	363				
LRRC37A5P	652972	broad.mit.edu	37	9	114371356	114371356	+	RNA	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:114371356C>A	ENST00000374304.1	-	0	443							Q49AS3	L37A5_HUMAN	leucine rich repeat containing 37, member A5, pseudogene																		ATACAGTTCTCAATTCTTGCT	0.493																																						ENST00000374304.1																			0																																																			0							g.chr9:114371356C>A	BC031236		9q31.3	2012-10-16	2012-03-07	2012-03-07	ENSG00000204173	ENSG00000204173			23369	pseudogene	pseudogene			"""chromosome 9 open reading frame 29"""	C9orf29			Standard	NR_034087		Approved		uc022bly.1	Q49AS3	OTTHUMG00000020494		9.37:g.114371356C>A														0	443	-								Q5JVP0	RNA	SNP	ENST00000374304.1	37			.	.	.	.	.	.	.	.	.	.	c	0.440	-0.899169	0.02472	.	.	ENSG00000204173	ENST00000374306;ENST00000536054;ENST00000374304;ENST00000374302	.	.	.	0.957	-1.91	0.07641	.	.	.	.	.	T	0.36963	0.0986	.	.	.	0.20638	N	0.999872	.	.	.	.	.	.	T	0.47018	-0.9149	4	0.87932	D	0	.	4.2417	0.10650	0.0:0.4559:0.0:0.5441	.	.	.	.	F	84;76;10;10	.	ENSP00000363420:L10F	L	-	3	2	C9orf29	113411177	0.057000	0.20700	0.006000	0.13384	0.001000	0.01503	-0.116000	0.10724	-0.616000	0.05671	-0.670000	0.03821	TTG		0.493	LRRC37A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000053655.2	NR_034087		7	243	1	0	0.00198382	0.029380	0.00204316	7	243				
UNC79	57578	broad.mit.edu	37	14	94004400	94004400	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:94004400C>T	ENST00000393151.2	+	12	1188	c.1188C>T	c.(1186-1188)caC>caT	p.H396H	UNC79_ENST00000256339.4_Silent_p.H219H|UNC79_ENST00000553484.1_Silent_p.H396H|UNC79_ENST00000555664.1_Silent_p.H396H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	396					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GTGGTCGTCACGGAAACAGGC	0.502																																						ENST00000553484.1																			0				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						c.(1186-1188)caC>caT		unc-79 homolog (C. elegans)							80.0	76.0	77.0					14																	94004400		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94004400C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1188C>T	14.37:g.94004400C>T						UNC79_ENST00000256339.4_Silent_p.H219H|UNC79_ENST00000555664.1_Silent_p.H396H|UNC79_ENST00000393151.2_Silent_p.H396H	p.H396H			Q9P2D8	UNC79_HUMAN			12	1342	+			396					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.1188C>T																																																																																					0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		7	334	0	0	0	0.038147	0	7	334				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000509479.2_Silent_p.Q497Q|MAML3_ENST00000327122.5_Silent_p.Q341Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	6	254	0	0	0	0.029380	0	6	254				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			8	324	0	0	0	0.058154	0	8	324				
SBK1	388228	broad.mit.edu	37	16	28331735	28331735	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:28331735G>A	ENST00000341901.4	+	4	1557	c.768G>A	c.(766-768)gcG>gcA	p.A256A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(3)|ovary(1)	5						GGGAGGCGGCGTCGGGCGCCG	0.746																																						ENST00000341901.4																			0				kidney(1)|lung(3)|ovary(1)	5						c.(766-768)gcG>gcA		SH3 domain binding kinase 1							13.0	21.0	18.0					16																	28331735		2083	4197	6280	SO:0001819	synonymous_variant	388228					cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr16:28331735G>A		CCDS32416.1	16p11.2	2013-09-27	2013-09-27			ENSG00000188322			17699	protein-coding gene	gene with protein product			"""SH3-binding domain kinase 1"""				Standard	XM_005255315		Approved	Sbk	uc002dpd.3	Q52WX2		ENST00000341901.4:c.768G>A	16.37:g.28331735G>A							p.A256A	NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN			4	1557	+			256			Protein kinase.			Silent	SNP	ENST00000341901.4	37	c.768G>A	CCDS32416.1																																																																																				0.746	SBK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387677.1	XM_370948		11	160	0	0	0	0.093190	0	11	160				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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		14	628	0	0	0	0.105934	0	14	628				
RPRD1B	58490	broad.mit.edu	37	20	36694636	36694636	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:36694636C>T	ENST00000373433.4	+	6	1211	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	270					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle process (GO:0010564)|transcription, DNA-templated (GO:0006351)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleus (GO:0005634)	RNA polymerase II core binding (GO:0000993)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GATGTTTTGTCGGAGAAGGAG	0.502																																						ENST00000373433.4																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						c.(808-810)tCg>tTg		regulation of nuclear pre-mRNA domain containing 1B							75.0	86.0	82.0					20																	36694636		2203	4300	6503	SO:0001583	missense	58490							g.chr20:36694636C>T	AL109823	CCDS13301.1	20q11.21-q12	2012-02-09	2008-08-15	2008-07-28	ENSG00000101413	ENSG00000101413			16209	protein-coding gene	gene with protein product		614694	"""chromosome 20 open reading frame 77"""	C20orf77		22231121	Standard	NM_021215		Approved	dJ1057B20.2, DKFZp434P0735, CREPT, FLJ44520, NET60	uc002xho.4	Q9NQG5	OTTHUMG00000032434	ENST00000373433.4:c.809C>T	20.37:g.36694636C>T	ENSP00000362532:p.Ser270Leu						p.S270L	NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN			6	1211	+			270					Q1WDE7|Q6PKF4	Missense_Mutation	SNP	ENST00000373433.4	37	c.809C>T	CCDS13301.1	.	.	.	.	.	.	.	.	.	.	C	14.45	2.538823	0.45176	.	.	ENSG00000101413	ENST00000373433;ENST00000449186	.	.	.	5.35	5.35	0.76521	.	0.313199	0.35207	N	0.003367	T	0.45377	0.1339	L	0.27053	0.805	0.41599	D	0.988848	B	0.13594	0.008	B	0.10450	0.005	T	0.30208	-0.9986	9	0.39692	T	0.17	-5.9908	14.2206	0.65823	0.0:0.851:0.149:0.0	.	270	Q9NQG5	RPR1B_HUMAN	L	270;152	.	ENSP00000362532:S270L	S	+	2	0	RPRD1B	36128050	0.996000	0.38824	1.000000	0.80357	0.966000	0.64601	0.953000	0.29162	2.941000	0.99782	0.655000	0.94253	TCG		0.502	RPRD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079142.2	NM_021215		12	480	0	0	0	0.105934	0	12	480				
LOC101243545	101243545	broad.mit.edu	37	3	161147009	161147009	+	lincRNA	SNP	A	A	G	rs572435760	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438													N|||	6	0.00119808	0.0038	0.0	5008	,	,		16178	0.0		0.0	False		,,,				2504	0.001					ENST00000473595.1																			0																				100.0	110.0	106.0					3																	161147009		1506	2683	4189			0							g.chr3:161147009A>G																													3.37:g.161147009A>G						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.438	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			6	450	0	0	0	0.080935	0	6	450				
RNF213	57674	broad.mit.edu	37	17	78363984	78363984	+	Missense_Mutation	SNP	G	G	A	rs528073196		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78363984G>A	ENST00000582970.1	+	67	15601	c.15458G>A	c.(15457-15459)cGc>cAc	p.R5153H	CTD-2047H16.4_ENST00000573394.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	5153					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGCGCTTCCGCCCTCAGTGG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		17896	0.001		0.0	False		,,,				2504	0.0					ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(15457-15459)cGc>cAc		ring finger protein 213							57.0	66.0	63.0					17																	78363984		2202	4299	6501	SO:0001583	missense	57674							g.chr17:78363984G>A	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.15458G>A	17.37:g.78363984G>A	ENSP00000464087:p.Arg5153His					RNF213_ENST00000336301.6_Missense_Mutation_p.R3226H|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.R5202H|CTD-2047H16.4_ENST00000572151.1_RNA	p.R5153H	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		67	15601	+	all_neural(118;0.0538)		0					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.15458G>A	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	G	9.024	0.985660	0.18889	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T;T	0.23147	1.95;1.92	5.67	2.26	0.28386	.	0.954721	0.08773	N	0.896005	T	0.17704	0.0425	L	0.43152	1.355	0.20926	N	0.999826	D;P	0.53619	0.961;0.713	B;B	0.35240	0.198;0.139	T	0.16305	-1.0407	10	0.44086	T	0.13	.	6.2579	0.20884	0.6156:0.1201:0.2643:0.0	.	5153;3226	D6RI12;Q63HN8	.;RN213_HUMAN	H	5153;5202;3226;503	ENSP00000425956:R5153H;ENSP00000338218:R3226H	ENSP00000338218:R3226H	R	+	2	0	RNF213	75978579	0.010000	0.17322	0.026000	0.17262	0.011000	0.07611	0.138000	0.16016	0.092000	0.17331	-0.294000	0.09567	CGC		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		27	650	0	0	0	0.099896	0	27	650				
POTEH	23784	broad.mit.edu	37	22	16287673	16287673	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:16287673C>G	ENST00000343518.6	-	1	264	c.213G>C	c.(211-213)tgG>tgC	p.W71C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	71								p.W71C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCCCCTGCACCAGGGGAAGC	0.582																																						ENST00000343518.6																			1	Substitution - Missense(1)	p.W71C(1)	NS(1)	NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(211-213)tgG>tgC		POTE ankyrin domain family, member H							110.0	126.0	120.0					22																	16287673		2105	3940	6045	SO:0001583	missense	23784							g.chr22:16287673C>G	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.213G>C	22.37:g.16287673C>G	ENSP00000340610:p.Trp71Cys						p.W71C	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			1	264	-			71					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.213G>C	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.595853	0.00008	.	.	ENSG00000198062	ENST00000359587;ENST00000343518;ENST00000355872	T	0.25912	1.77	.	.	.	.	.	.	.	.	T	0.03608	0.0103	N	0.00321	-1.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16012	-1.0417	7	0.02654	T	1	.	.	.	.	.	71	Q6S545	POTEH_HUMAN	C	71	ENSP00000340610:W71C	ENSP00000340610:W71C	W	-	3	0	POTEH	14667673	0.006000	0.16342	0.007000	0.13788	0.007000	0.05969	-0.619000	0.05572	-1.825000	0.01207	-1.799000	0.00621	TGG		0.582	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		8	1856	0	0	0	0.014758	0	8	1856				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																0							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		8	393	0	0	0	0.132662	0	8	393				
SPOCK1	6695	broad.mit.edu	37	5	136403476	136403476	+	Missense_Mutation	SNP	C	C	T	rs139465331		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:136403476C>T	ENST00000394945.1	-	6	686	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	173	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAGAGGGTGGCGAGGCTTTTG	0.527													T|||	1	0.000199681	0.0	0.0	5008	,	,		17245	0.0		0.001	False		,,,				2504	0.0					ENST00000394945.1																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18						c.(517-519)Gcc>Acc		sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1		T	THR/ALA	2,4404	826.0+/-416.6	0,2,2201	153.0	138.0	143.0		517	1.5	0.8	5	dbSNP_134	143	8,8592	818.9+/-406.8	0,8,4292	yes	missense	SPOCK1	NM_004598.3	58	0,10,6493	TT,TC,CC		0.093,0.0454,0.0769	benign	173/440	136403476	10,12996	2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136403476C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.517G>A	5.37:g.136403476C>T	ENSP00000378401:p.Ala173Thr					SPOCK1_ENST00000282223.7_Missense_Mutation_p.A173T	p.A173T	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	686	-			173			Kazal-like.		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.517G>A	CCDS4191.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	T	8.496	0.863193	0.17250	4.54E-4	9.3E-4	ENSG00000152377	ENST00000394945;ENST00000282223;ENST00000510689	T;T;T	0.03951	3.75;3.75;3.75	5.29	1.53	0.23141	Proteinase inhibitor I1, Kazal (1);EF-hand-like domain (1);Protease inhibitor, Kazal-type (1);	0.647153	0.16037	N	0.232569	T	0.01421	0.0046	N	0.00690	-1.25	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.48833	-0.9000	10	0.15066	T	0.55	.	8.4119	0.32648	0.0:0.3226:0.0:0.6774	.	173	Q08629	TICN1_HUMAN	T	173;173;28	ENSP00000378401:A173T;ENSP00000282223:A173T;ENSP00000421677:A28T	ENSP00000282223:A173T	A	-	1	0	SPOCK1	136431375	0.624000	0.27102	0.838000	0.33150	0.900000	0.52787	0.051000	0.14141	0.035000	0.15519	-1.327000	0.01280	GCC		0.527	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		16	469	0	0	0	0.043863	0	16	469				
MN1	4330	broad.mit.edu	37	22	28194183	28194183	+	Silent	SNP	A	A	C	rs147022536|rs370415254	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:28194183A>C	ENST00000302326.4	-	1	3303	c.2349T>G	c.(2347-2349)ggT>ggG	p.G783G		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	783					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGGGTAGGCACCCCCGCCAC	0.726			T	ETV6	"""AML, meningioma"""								A|||	51	0.0101837	0.0144	0.0101	5008	,	,		9502	0.006		0.008	False		,,,				2504	0.0112					ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(2347-2349)ggT>ggG		meningioma (disrupted in balanced translocation) 1							4.0	5.0	5.0					22																	28194183		1653	3723	5376	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194183A>C	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.2349T>G	22.37:g.28194183A>C							p.G783G	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	3303	-			783					A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.2349T>G	CCDS42998.1																																																																																				0.726	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		17	40	0	0	0	0.183431	0	17	40				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		7	223	0	0	0	0.029380	0	7	223				
C3AR1	719	broad.mit.edu	37	12	8211546	8211546	+	Silent	SNP	A	A	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:8211546A>C	ENST00000307637.4	-	2	1439	c.1236T>G	c.(1234-1236)acT>acG	p.T412T		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	412					blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGACATCAGAGTTTTCCCCA	0.468																																						ENST00000307637.4																			0				breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20						c.(1234-1236)acT>acG		complement component 3a receptor 1							87.0	80.0	83.0					12																	8211546		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8211546A>C	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.1236T>G	12.37:g.8211546A>C							p.T412T	NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	1439	-			412					O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.1236T>G	CCDS8588.1																																																																																				0.468	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1			10	282	0	0	0	0.058154	0	10	282				
POM121L9P	29774	broad.mit.edu	37	22	24659809	24659809	+	RNA	SNP	G	G	A	rs376621154		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:24659809G>A	ENST00000414583.2	+	0	3334					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		CCCTATCTGCGCACCCGGAGG	0.612																																						ENST00000414583.2																			0																																																			0							g.chr22:24659809G>A	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659809G>A								NR_003714.1						0	3334	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.612	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		7	33	0	0	0	0.047766	0	7	33				
SNAP47	116841	broad.mit.edu	37	1	227968309	227968309	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:227968309G>A	ENST00000366759.4	+	5	1744	c.1330G>A	c.(1330-1332)Gca>Aca	p.A444T	SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	444	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				long-term synaptic potentiation (GO:0060291)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGGCGTTGCAGCAGCTGTGGA	0.597																																						ENST00000366759.4																			0				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(1330-1332)Gca>Aca		synaptosomal-associated protein, 47kDa							147.0	115.0	126.0					1																	227968309		2203	4300	6503	SO:0001583	missense	116841					endomembrane system|membrane|perinuclear region of cytoplasm		g.chr1:227968309G>A	AY090635	CCDS1562.1	1q42.13	2013-10-11	2008-10-27	2008-10-27	ENSG00000143740	ENSG00000143740			30669	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 142"""	C1orf142		16621800	Standard	NM_053052		Approved	SVAP1, SNAP-47	uc001hrf.2	Q5SQN1	OTTHUMG00000037697	ENST00000366759.4:c.1330G>A	1.37:g.227968309G>A	ENSP00000355721:p.Ala444Thr					SNAP47_ENST00000366760.1_Missense_Mutation_p.A202T	p.A444T	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN			5	1744	+			444			t-SNARE coiled-coil homology 2.		B6EDE0|Q5HYB5|Q5TBZ3|Q8N558|Q8TB31|Q8TCW8|Q8WV46|Q96CQ3|Q96FE1|Q96I66|Q96NU3|Q9BT10|Q9BVB2	Missense_Mutation	SNP	ENST00000366759.4	37	c.1330G>A	CCDS1562.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.565409	0.00903	.	.	ENSG00000143740	ENST00000366760;ENST00000366759	T;T	0.42513	0.97;2.28	4.67	-2.54	0.06307	Target SNARE coiled-coil domain (1);	0.884135	0.10124	N	0.713045	T	0.17109	0.0411	N	0.11560	0.145	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.28681	-1.0036	10	0.10636	T	0.68	-15.287	4.493	0.11822	0.3799:0.0:0.2016:0.4185	.	444	Q5SQN1	SNP47_HUMAN	T	202;444	ENSP00000355722:A202T;ENSP00000355721:A444T	ENSP00000355721:A444T	A	+	1	0	SNAP47	226034932	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.403000	0.07214	-0.674000	0.05253	-0.258000	0.10820	GCA		0.597	SNAP47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091961.1	NM_053052		5	335	0	0	0	0.014758	0	5	335				
IFIT1B	439996	broad.mit.edu	37	10	91143683	91143683	+	Missense_Mutation	SNP	G	G	A	rs147758253	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:91143683G>A	ENST00000371809.3	+	2	693	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	205										endometrium(2)|large_intestine(3)|lung(8)	13						TTCTCTGCACGTCCTAAAACG	0.448													G|||	5	0.000998403	0.0	0.0	5008	,	,		21527	0.005		0.0	False		,,,				2504	0.0					ENST00000371809.3																			0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(613-615)Gtc>Atc		interferon-induced protein with tetratricopeptide repeats 1B		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	262.0	272.0	268.0		613	-0.5	0.0	10	dbSNP_134	268	2,8598	2.2+/-6.3	0,2,4298	yes	missense	IFIT1B	NM_001010987.2	29	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	benign	205/475	91143683	3,13003	2203	4300	6503	SO:0001583	missense	439996						binding	g.chr10:91143683G>A		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	ENST00000371809.3:c.613G>A	10.37:g.91143683G>A	ENSP00000360874:p.Val205Ile					LIPA_ENST00000371837.1_Intron	p.V205I	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN			2	693	+			205					A7E245	Missense_Mutation	SNP	ENST00000371809.3	37	c.613G>A	CCDS31242.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.422	0.846672	0.16963	2.27E-4	2.33E-4	ENSG00000204010	ENST00000371809	T	0.37584	1.19	3.98	-0.504	0.11997	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.472024	0.22112	U	0.064468	T	0.12050	0.0293	N	0.02802	-0.49	0.09310	N	1	B	0.14805	0.011	B	0.11329	0.006	T	0.26224	-1.0109	10	0.20046	T	0.44	.	6.2199	0.20675	0.1173:0.426:0.3795:0.0773	.	205	Q5T764	IFT1B_HUMAN	I	205	ENSP00000360874:V205I	ENSP00000360874:V205I	V	+	1	0	IFIT1B	91133663	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.154000	0.03166	0.023000	0.15187	-1.605000	0.00808	GTC		0.448	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	NM_001010987		11	1748	0	0	0	0.069234	0	11	1748				
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					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)	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)	ENST00000332687.6																			6	Substitution - coding silent(6)	p.T404T(6)	lung(3)|urinary_tract(1)|kidney(1)|endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1210-1212)acC>acG		ring finger protein, LIM domain interacting							102.0	92.0	95.0					X																	73811938		2203	4300	6503	SO:0001819	synonymous_variant	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:73811938G>C	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.1212C>G	X.37:g.73811938G>C						RLIM_ENST00000349225.2_Silent_p.T404T	p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN			4	1430	-			404					B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	ENST00000332687.6	37	c.1212C>G	CCDS14427.1																																																																																				0.413	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057268.1	NM_016120		7	486	0	0	0	0.029380	0	7	486				
PRG4	10216	broad.mit.edu	37	1	186277098	186277098	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186277098C>T	ENST00000445192.2	+	7	2292	c.2247C>T	c.(2245-2247)ccC>ccT	p.P749P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P708P|PRG4_ENST00000367486.3_Silent_p.P706P|PRG4_ENST00000367485.4_Silent_p.P656P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	749	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GTGACAAGCCCGCTCCAACTA	0.607																																						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.(2245-2247)ccC>ccT		proteoglycan 4							174.0	192.0	186.0					1																	186277098		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186277098C>T	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.2247C>T	1.37:g.186277098C>T						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.P708P|PRG4_ENST00000367486.3_Silent_p.P706P|PRG4_ENST00000367485.4_Silent_p.P656P	p.P749P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2292	+			749			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2247C>T	CCDS1369.1																																																																																				0.607	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	1116	0	0	0	0.093190	0	8	1116				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	2781	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		11	930	0	0	0	0.055883	0	11	930				
BMS1P20	96610	broad.mit.edu	37	22	22661272	22661272	+	RNA	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:22661272C>T	ENST00000426066.1	+	0	360					NR_027293.1				BMS1 pseudogene 20																		CTGGGATGTACGTCTGCGTTG	0.488																																						ENST00000426066.1																			0																																																			0							g.chr22:22661272C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661272C>T								NR_027293.1						0	360	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.488	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	241	0	0	0	0.014758	0	5	241				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		8	875	0	0	0	0.069234	0	8	875				
BCRP7	100133163	broad.mit.edu	37	22	18846025	18846025	+	3'UTR	SNP	G	G	C	rs5993363		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:18846025G>C	ENST00000412938.1	+	0	3383																											GACGTTGAAGGCTGCCTTCAG	0.647																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18846025G>C																												ENST00000412938.1:c.*3380G>C	22.37:g.18846025G>C														0	3383	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.647	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			6	376	0	0	0	0.119110	0	6	376				
PRG4	10216	broad.mit.edu	37	1	186276588	186276588	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276588T>C	ENST00000445192.2	+	7	1782	c.1737T>C	c.(1735-1737)acT>acC	p.T579T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367485.4_Silent_p.T486T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	579	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T579T(1)		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						CTGCCCCAACTACCCCCAAGG	0.647																																						ENST00000445192.2																			1	Substitution - coding silent(1)	p.T579T(1)	endometrium(1)	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.(1735-1737)acT>acC		proteoglycan 4							88.0	91.0	90.0					1																	186276588		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276588T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1737T>C	1.37:g.186276588T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T538T|PRG4_ENST00000367486.3_Silent_p.T536T|PRG4_ENST00000367485.4_Silent_p.T486T	p.T579T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1782	+			579			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1737T>C	CCDS1369.1																																																																																				0.647	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		44	657	0	0	0	0.139131	0	44	657				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				4	40	0	0	0	0.038147	0	4	40				
PRG4	10216	broad.mit.edu	37	1	186276229	186276229	+	Missense_Mutation	SNP	A	A	G	rs200751463		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276229A>G	ENST00000445192.2	+	7	1423	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	460	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T460A(1)		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						CAAGGAGCCTACACCCACCAC	0.657																																						ENST00000445192.2																			1	Substitution - Missense(1)	p.T460A(1)	lung(1)	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.(1378-1380)Aca>Gca		proteoglycan 4							86.0	95.0	92.0					1																	186276229		2203	4297	6500	SO:0001583	missense	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276229A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1378A>G	1.37:g.186276229A>G	ENSP00000399679:p.Thr460Ala					PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T419A|PRG4_ENST00000367486.3_Missense_Mutation_p.T417A|PRG4_ENST00000367485.4_Missense_Mutation_p.T367A	p.T460A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1423	+			460			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	ENST00000445192.2	37	c.1378A>G	CCDS1369.1	.	.	.	.	.	.	.	.	.	.	-	5.758	0.324291	0.10900	.	.	ENSG00000116690	ENST00000367486;ENST00000367482;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T	0.03689	3.86;3.95;3.84;3.94	3.89	-1.26	0.09376	.	1.548120	0.04848	N	0.441778	T	0.01254	0.0041	N	0.01188	-0.97	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.45760	-0.9239	9	.	.	.	.	1.0401	0.01557	0.3011:0.1615:0.3744:0.163	.	326;367;460;419	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	A	417;326;419;367;460	ENSP00000356456:T417A;ENSP00000356453:T419A;ENSP00000356455:T367A;ENSP00000399679:T460A	.	T	+	1	0	PRG4	184542852	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.973000	0.00666	-0.043000	0.13513	-1.818000	0.00600	ACA		0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		12	836	0	0	0	0.175082	0	12	836				
HSP90B1	7184	broad.mit.edu	37	12	104327988	104327988	+	Silent	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:104327988C>A	ENST00000299767.5	+	5	848	c.666C>A	c.(664-666)atC>atA	p.I222I		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	222					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCCAGCACATCTGGGAGTCTG	0.433																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.(664-666)atC>atA		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						85.0	80.0	82.0					12																	104327988		2203	4300	6503	SO:0001819	synonymous_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104327988C>A	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.666C>A	12.37:g.104327988C>A							p.I222I	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			5	848	+			222					Q96A97	Silent	SNP	ENST00000299767.5	37	c.666C>A	CCDS9094.1																																																																																				0.433	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299		11	276	1	0	0.000673444	0.069234	0.000699569	11	276				
FAM86EP	348926	broad.mit.edu	37	4	3952899	3952899	+	RNA	SNP	A	A	T	rs17410906		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:3952899A>T	ENST00000313946.8	-	0	155				AC226119.5_ENST00000281228.8_RNA					family with sequence similarity 86, member E, pseudogene																		AGCACCGGGCATACTTGACTG	0.557																																						ENST00000281228.8																			0																																																			0							g.chr4:3952899A>T			4p16.3	2011-07-01			ENSG00000251669	ENSG00000251669			28017	pseudogene	pseudogene						12477932	Standard	NR_024253		Approved		uc011bvu.2		OTTHUMG00000159867		4.37:g.3952899A>T						FAM86EP_ENST00000313946.8_RNA								0	208	-									RNA	SNP	ENST00000313946.8	37																																																																																						0.557	FAM86EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357822.1			12	308	0	0	0	0.132662	0	12	308				
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:71347033C>T	ENST00000304887.5	+	3	762	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000413702.1_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587																																						ENST00000413702.1																			1	Substitution - Missense(1)	p.A191V(1)	urinary_tract(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(571-573)gCc>gTc		mucin 7, secreted							359.0	290.0	314.0					4																	71347033		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71347033C>T	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.572C>T	4.37:g.71347033C>T	ENSP00000302021:p.Ala191Val					MUC7_ENST00000456088.1_Missense_Mutation_p.A191V|MUC7_ENST00000304887.5_Missense_Mutation_p.A191V	p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	860	+			191			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.572C>T	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	9.480	1.097885	0.20552	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.59772	0.24;0.24;0.24	1.73	1.73	0.24493	.	.	.	.	.	T	0.37919	0.1021	L	0.27053	0.805	0.09310	N	1	B	0.32573	0.376	B	0.32583	0.148	T	0.17228	-1.0376	8	.	.	.	.	4.1514	0.10240	0.0:0.792:0.0:0.208	.	191	Q8TAX7	MUC7_HUMAN	V	191	ENSP00000407422:A191V;ENSP00000400585:A191V;ENSP00000302021:A191V	.	A	+	2	0	MUC7	71381622	0.000000	0.05858	0.058000	0.19502	0.018000	0.09664	0.323000	0.19593	1.273000	0.44346	0.655000	0.94253	GCC		0.587	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		9	1084	0	0	0	0.029380	0	9	1084				
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582																																						ENST00000406386.3																			6	Substitution - coding silent(6)	p.C432C(6)	kidney(3)|cervix(1)|lung(1)|endometrium(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1294-1296)tgC>tgT		TRIO and F-actin binding protein																																				SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38119859C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1296C>T	22.37:g.38119859C>T						RP1-37E16.12_ENST00000455236.1_RNA	p.C432C	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1551	+	Melanoma(58;0.0574)		432					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.1296C>T	CCDS43015.1																																																																																				0.582	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			9	857	0	0	0	0.160694	0	9	857				
EPB41	2035	broad.mit.edu	37	1	29314163	29314163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:29314163C>T	ENST00000343067.4	+	2	341	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W|EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	72					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GAACAAGGAGCGGACATCAGA	0.453																																						ENST00000343067.4																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(214-216)Cgg>Tgg		erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)							166.0	159.0	161.0					1																	29314163		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314163C>T	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.214C>T	1.37:g.29314163C>T	ENSP00000345259:p.Arg72Trp					EPB41_ENST00000373797.1_Missense_Mutation_p.R72W|EPB41_ENST00000373798.1_Missense_Mutation_p.R72W|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000356093.2_Missense_Mutation_p.R72W|EPB41_ENST00000349460.4_5'UTR|EPB41_ENST00000347529.3_Missense_Mutation_p.R72W|EPB41_ENST00000398863.2_Missense_Mutation_p.R72W	p.R72W	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	2	341	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	72					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.214C>T	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.179746	0.78564	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.85258	-1.96;-1.95;-1.78;-1.69;-1.96;-1.94	5.6	5.6	0.85130	.	0.070962	0.56097	D	0.000035	D	0.89150	0.6633	L	0.32530	0.975	0.44500	D	0.997445	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.997;0.988;0.999;1.0;0.999	D	0.90061	0.4156	10	0.72032	D	0.01	.	18.6548	0.91448	0.0:1.0:0.0:0.0	.	72;72;72;72;72	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	W	89;72;72;72;72;72;72;72;72	ENSP00000345259:R72W;ENSP00000348397:R72W;ENSP00000381839:R72W;ENSP00000290100:R72W;ENSP00000362904:R72W;ENSP00000362903:R72W	ENSP00000345259:R72W	R	+	1	2	EPB41	29186750	0.998000	0.40836	0.978000	0.43139	0.926000	0.56050	3.068000	0.50018	2.633000	0.89246	0.650000	0.86243	CGG		0.453	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1	NM_203342		6	946	0	0	0	0.029380	0	6	946				
PTPRF	5792	broad.mit.edu	37	1	44071948	44071948	+	Missense_Mutation	SNP	G	G	A	rs377569778	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:44071948G>A	ENST00000359947.4	+	20	3861	c.3521G>A	c.(3520-3522)cGg>cAg	p.R1174Q	PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1174					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAGCAGCGGCGGCGGCGG	0.632													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15712	0.0		0.0	False		,,,				2504	0.0					ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3520-3522)cGg>cAg		protein tyrosine phosphatase, receptor type, F		G	GLN/ARG,GLN/ARG	1,4363		0,1,2181	41.0	52.0	48.0		3521,3494	2.1	1.0	1		48	1,8519		0,1,4259	no	missense,missense	PTPRF	NM_002840.3,NM_130440.2	43,43	0,2,6440	AA,AG,GG		0.0117,0.0229,0.0155	benign,benign	1174/1908,1165/1899	44071948	2,12882	2182	4260	6442	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071948G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3521G>A	1.37:g.44071948G>A	ENSP00000353030:p.Arg1174Gln					PTPRF_ENST00000438120.1_Missense_Mutation_p.R1165Q|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.R522Q|PTPRF_ENST00000372413.3_Missense_Mutation_p.R1165Q|PTPRF_ENST00000372414.3_Missense_Mutation_p.R1174Q	p.R1174Q	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1174					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.3521G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.921439|2.921439	0.52653|0.52653	2.29E-4|2.29E-4	1.17E-4|1.17E-4	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.56275	.|0.47;0.5;0.47;0.5;2.43;4.11	5.2|5.2	2.08|2.08	0.27032|0.27032	.|.	.|0.281004	.|0.18882	.|N	.|0.128559	T|T	0.37348|0.37348	0.1000|0.1000	L|L	0.44542|0.44542	1.39|1.39	0.45415|0.45415	D|D	0.998395|0.998395	.|P;B;B;D;D	.|0.56521	.|0.782;0.051;0.218;0.976;0.963	.|B;B;B;B;B	.|0.41619	.|0.203;0.014;0.063;0.32;0.361	T|T	0.15549|0.15549	-1.0433|-1.0433	5|10	.|0.15952	.|T	.|0.53	.|.	7.092|7.092	0.25289|0.25289	0.0705:0.1205:0.6755:0.1334|0.0705:0.1205:0.6755:0.1334	.|.	.|819;522;740;1165;1174	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	S|Q	820|1174;1165;1174;1165;522;235	.|ENSP00000353030:R1174Q;ENSP00000398822:R1165Q;ENSP00000361491:R1174Q;ENSP00000361490:R1165Q;ENSP00000387885:R522Q;ENSP00000361484:R235Q	.|ENSP00000353030:R1174Q	G|R	+|+	1|2	0|0	PTPRF|PTPRF	43844535|43844535	0.983000|0.983000	0.35010|0.35010	0.985000|0.985000	0.45067|0.45067	0.858000|0.858000	0.48976|0.48976	0.421000|0.421000	0.21280|0.21280	0.684000|0.684000	0.31448|0.31448	0.561000|0.561000	0.74099|0.74099	GGC|CGG		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			7	557	0	0	0	0.029380	0	7	557				
ARHGAP31	57514	broad.mit.edu	37	3	119128441	119128441	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:119128441G>A	ENST00000264245.4	+	11	2276	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	582					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGAGCCAGGCGCCCACCTGGA	0.542																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(1744-1746)Gcc>Acc		Rho GTPase activating protein 31							33.0	36.0	35.0					3																	119128441		1883	4107	5990	SO:0001583	missense	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119128441G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.1744G>A	3.37:g.119128441G>A	ENSP00000264245:p.Ala582Thr						p.A582T	NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN			11	2276	+			582					Q9ULL6	Missense_Mutation	SNP	ENST00000264245.4	37	c.1744G>A	CCDS43135.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.477473	0.01035	.	.	ENSG00000031081	ENST00000264245;ENST00000543280	T	0.05925	3.37	5.27	-10.5	0.00291	.	1.661360	0.03193	N	0.173588	T	0.02083	0.0065	N	0.04880	-0.145	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.02654	T	1	.	5.8933	0.18925	0.5415:0.2715:0.1077:0.0793	.	582	Q2M1Z3	RHG31_HUMAN	T	582	ENSP00000264245:A582T	ENSP00000264245:A582T	A	+	1	0	ARHGAP31	120611131	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-3.506000	0.00448	-3.278000	0.00198	-1.594000	0.00841	GCC		0.542	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2			8	154	0	0	0	0.058154	0	8	154				
CHAT	1103	broad.mit.edu	37	10	50827783	50827783	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:50827783C>T	ENST00000337653.2	+	3	553	c.400C>T	c.(400-402)Ctg>Ttg	p.L134L	CHAT_ENST00000395562.2_Silent_p.L52L|CHAT_ENST00000351556.3_Silent_p.L16L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000455728.2_Silent_p.L16L|CHAT_ENST00000339797.1_Silent_p.L16L	NM_001142929.1|NM_020549.4	NP_001136401.1|NP_065574	P28329	CLAT_HUMAN	choline O-acetyltransferase	134					adult walking behavior (GO:0007628)|dendrite development (GO:0016358)|establishment of synaptic specificity at neuromuscular junction (GO:0007529)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|rhythmic behavior (GO:0007622)|rhythmic excitation (GO:0043179)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	choline O-acetyltransferase activity (GO:0004102)			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)|Nicotine(DB00184)	GCTGCCCAAACTGCCCGTGCC	0.577																																						ENST00000395562.2																			0				central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56						c.(154-156)Ctg>Ttg		choline O-acetyltransferase	Choline(DB00122)						53.0	42.0	45.0					10																	50827783		2203	4300	6503	SO:0001819	synonymous_variant	1103				neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	g.chr10:50827783C>T	AF305907	CCDS7232.1, CCDS7233.1, CCDS44389.1	10q11.2	2010-05-11	2010-05-11		ENSG00000070748	ENSG00000070748	2.3.1.6		1912	protein-coding gene	gene with protein product		118490	"""choline acetyltransferase"""			1840566	Standard	NM_020984		Approved		uc001jhz.2	P28329	OTTHUMG00000018198	ENST00000337653.2:c.400C>T	10.37:g.50827783C>T						CHAT_ENST00000351556.3_Silent_p.L16L|CHAT_ENST00000337653.2_Silent_p.L134L|CHAT_ENST00000395559.2_Silent_p.L16L|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000339797.1_Silent_p.L16L|CHAT_ENST00000455728.2_Silent_p.L16L	p.L52L	NM_001142933.1|NM_001142934.1	NP_001136405.1|NP_001136406.1	P28329	CLAT_HUMAN		GBM - Glioblastoma multiforme(2;0.000585)	4	623	+		all_neural(218;0.107)	134					A2BDF4|A2BDF5|Q16488|Q9BQ23|Q9BQ35|Q9BQE1	Silent	SNP	ENST00000337653.2	37	c.154C>T	CCDS7232.1																																																																																				0.577	CHAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047997.1	NM_020549		6	137	0	0	0	0.047766	0	6	137				
EWSR1	2130	broad.mit.edu	37	22	29695794	29695794	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29695794G>A	ENST00000397938.2	+	16	2203	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	EWSR1_ENST00000332050.6_Silent_p.Q555Q|EWSR1_ENST00000406548.1_Silent_p.Q627Q|EWSR1_ENST00000331029.7_Silent_p.Q590Q|EWSR1_ENST00000414183.2_Silent_p.Q633Q|EWSR1_ENST00000332035.6_Silent_p.Q572Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	628	Arg/Gly/Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGATGGAACAGATGGGAGGAA	0.602			T	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""	"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""																																	ENST00000397938.2				Dom	yes		22	22q12	2130	T	Ewing sarcoma breakpoint region 1 (EWS)			"""L, M"""	"""FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"""		"""Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"""	EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1882-1884)caG>caA		EWS RNA-binding protein 1							28.0	31.0	30.0					22																	29695794		2203	4300	6503	SO:0001819	synonymous_variant	2130				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding	g.chr22:29695794G>A		CCDS13851.1, CCDS13852.1, CCDS13852.2, CCDS54512.1, CCDS54513.1, CCDS54514.1	22q12.2	2013-05-24	2013-05-24		ENSG00000182944	ENSG00000182944		"""RNA binding motif (RRM) containing"""	3508	protein-coding gene	gene with protein product		133450	"""Ewing sarcoma breakpoint region 1"""			1522903	Standard	NM_005243		Approved	EWS	uc003aev.3	Q01844	OTTHUMG00000151107	ENST00000397938.2:c.1884G>A	22.37:g.29695794G>A						EWSR1_ENST00000332035.6_Silent_p.Q572Q|EWSR1_ENST00000332050.6_Silent_p.Q555Q|EWSR1_ENST00000331029.7_Silent_p.Q590Q|EWSR1_ENST00000406548.1_Silent_p.Q627Q|EWSR1_ENST00000414183.2_Silent_p.Q633Q	p.Q628Q	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN			16	2203	+			628			Arg/Gly/Pro-rich.		B0QYK1|Q5THL0|Q92635|Q96FE8|Q96MN4|Q96MX4|Q9BWA2	Silent	SNP	ENST00000397938.2	37	c.1884G>A	CCDS13851.1	.	.	.	.	.	.	.	.	.	.	G	8.184	0.794395	0.16327	.	.	ENSG00000182944	ENST00000360091	.	.	.	5.18	1.94	0.25998	.	.	.	.	.	T	0.58892	0.2154	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54186	-0.8331	4	.	.	.	.	10.3321	0.43829	0.2164:0.0:0.7836:0.0	.	.	.	.	N	280	.	.	D	+	1	0	EWSR1	28025794	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.597000	0.24059	0.583000	0.29574	-0.251000	0.11542	GAT		0.602	EWSR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321345.1	NM_005243		5	109	0	0	0	0.014758	0	5	109				
PPT1	5538	broad.mit.edu	37	1	40539758	40539758	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:40539758G>A	ENST00000433473.3	-	9	1360	c.896C>T	c.(895-897)gCc>gTc	p.A299V	PPT1_ENST00000530076.1_Missense_Mutation_p.A80V|PPT1_ENST00000449045.2_Missense_Mutation_p.A196V|PPT1_ENST00000372775.2_5'UTR	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	299					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TATGATGTGGGCATAAAACCA	0.483																																						ENST00000433473.3																			0				endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11						c.(895-897)gCc>gTc		palmitoyl-protein thioesterase 1							189.0	181.0	183.0					1																	40539758		2203	4300	6503	SO:0001583	missense	5538				brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity	g.chr1:40539758G>A	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.896C>T	1.37:g.40539758G>A	ENSP00000394863:p.Ala299Val					PPT1_ENST00000372775.2_5'UTR|PPT1_ENST00000530076.1_Missense_Mutation_p.A80V|PPT1_ENST00000449045.2_Missense_Mutation_p.A196V	p.A299V	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		9	1360	-	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	299					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.896C>T	CCDS447.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.636756	0.29068	.	.	ENSG00000131238	ENST00000433473;ENST00000449045;ENST00000439754;ENST00000530076	D;D;D;D	0.97404	-4.37;-4.37;-3.51;-4.37	5.78	3.84	0.44239	.	0.619388	0.16981	N	0.191714	D	0.95541	0.8551	L	0.59436	1.845	0.20196	N	0.999925	B;B;B	0.29571	0.249;0.119;0.01	B;B;B	0.32583	0.024;0.148;0.007	D	0.89878	0.4028	10	0.51188	T	0.08	-0.8945	12.7764	0.57451	0.0:0.0:0.5698:0.4302	.	196;225;299	P50897-2;B4DWU3;P50897	.;.;PPT1_HUMAN	V	299;196;170;80	ENSP00000394863:A299V;ENSP00000392293:A196V;ENSP00000403207:A170V;ENSP00000434007:A80V	ENSP00000394863:A299V	A	-	2	0	PPT1	40312345	0.795000	0.28851	1.000000	0.80357	0.476000	0.33039	1.039000	0.30266	0.720000	0.32209	-0.182000	0.12963	GCC		0.483	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		6	821	0	0	0	0.029380	0	6	821				
P2RY8	286530	broad.mit.edu	37	X	1584602	1584602	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:1584602G>T	ENST00000381297.4	-	2	1060	c.850C>A	c.(850-852)Ctc>Atc	p.L284I	P2RY8_ENST00000460672.1_5'Flank	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTTGTTGAGGCAGCTGAGA	0.587			T	CRLF2	"""B-ALL, Downs associated ALL"""																																	ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(850-852)Ctc>Atc		purinergic receptor P2Y, G-protein coupled, 8							119.0	117.0	118.0					X																	1584602		2203	4296	6499	SO:0001583	missense	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1584602G>T	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.850C>A	X.37:g.1584602G>T	ENSP00000370697:p.Leu284Ile						p.L284I	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	1060	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	284						Missense_Mutation	SNP	ENST00000381297.4	37	c.850C>A	CCDS14115.1	.	.	.	.	.	.	.	.	.	.	g	11.73	1.724334	0.30593	.	.	ENSG00000182162	ENST00000381297	T	0.20598	2.06	2.73	2.73	0.32206	GPCR, rhodopsin-like superfamily (1);	0.191682	0.34110	U	0.004251	T	0.18551	0.0445	L	0.52759	1.655	0.09310	N	1	B	0.33494	0.414	B	0.38327	0.271	T	0.11275	-1.0594	10	0.23891	T	0.37	.	6.3011	0.21113	0.3491:0.0:0.6509:0.0	.	284	Q86VZ1	P2RY8_HUMAN	I	284	ENSP00000370697:L284I	ENSP00000370697:L284I	L	-	1	0	P2RY8	1544602	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	0.594000	0.24014	1.007000	0.39238	0.279000	0.19357	CTC		0.587	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		21	550	1	0	1.64293e-13	0.083992	1.80798e-13	21	550				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		9	163	0	0	0	0.105934	0	9	163				
HMCN1	83872	broad.mit.edu	37	1	185931765	185931765	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:185931765C>T	ENST00000271588.4	+	12	2173	c.1944C>T	c.(1942-1944)aaC>aaT	p.N648N	HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	648	Ig-like C2-type 3.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGACCGTTAACGATATGTTTA	0.413																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1942-1944)aaC>aaT		hemicentin 1							207.0	190.0	196.0					1																	185931765		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185931765C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1944C>T	1.37:g.185931765C>T						HMCN1_ENST00000367492.2_Silent_p.N648N|HMCN1_ENST00000485744.1_3'UTR	p.N648N	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			12	2173	+			648			Ig-like C2-type 3.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.1944C>T	CCDS30956.1																																																																																				0.413	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	390	0	0	0	0.058154	0	9	390				
UBBP4	23666	broad.mit.edu	37	17	21731270	21731270	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:21731270T>C	ENST00000584755.1	+	2	969	c.572T>C	c.(571-573)aTc>aCc	p.I191T	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron					ubiquitin B pseudogene 4									p.I191T(3)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						ATCCCCCCGATCAGCAGAGGC	0.547																																						ENST00000584755.1																			3	Substitution - Missense(3)	p.I191T(3)	kidney(2)|endometrium(1)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(571-573)aTc>aCc																																						SO:0001583	missense	0							g.chr17:21731270T>C	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000584755.1:c.572T>C	17.37:g.21731270T>C	ENSP00000463647:p.Ile191Thr					UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron	p.I191T							2	969	+									Missense_Mutation	SNP	ENST00000584755.1	37	c.572T>C																																																																																					0.547	UBBP4-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000444585.1			7	469	0	0	0	0.038147	0	7	469				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>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.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		12	281	0	0	0	0.093190	0	12	281				
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:53644386T>A	ENST00000334197.7	-	5	1763	c.1695A>T	c.(1693-1695)ggA>ggT	p.G565G	ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000452676.2_Silent_p.G566G|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408																																					Melanoma(64;205 1597 17324 45721)	ENST00000452676.2																			0				endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23						c.(1696-1698)ggA>ggT		zinc finger protein 347							156.0	149.0	152.0					19																	53644386		2203	4300	6503	SO:0001819	synonymous_variant	84671				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53644386T>A	AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1695A>T	19.37:g.53644386T>A						ZNF347_ENST00000334197.7_Silent_p.G565G|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G	p.G566G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN		GBM - Glioblastoma multiforme(134;0.0179)	5	2124	-			565					B3KU77|B9EG59|G5E9N4|Q8TCN1	Silent	SNP	ENST00000334197.7	37	c.1698A>T	CCDS33097.1																																																																																				0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1	NM_032584		6	758	0	0	0	0.029380	0	6	758				
OR5D18	219438	broad.mit.edu	37	11	55587727	55587727	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:55587727G>T	ENST00000333976.4	+	1	642	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	208						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACCTTTAATGAAATCAGCAC	0.448																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(622-624)Gaa>Taa		olfactory receptor, family 5, subfamily D, member 18							193.0	162.0	173.0					11																	55587727		2200	4296	6496	SO:0001587	stop_gained	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587727G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.622G>T	11.37:g.55587727G>T	ENSP00000335025:p.Glu208*						p.E208*	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	642	+		all_epithelial(135;0.208)	208					Q6IF67|Q6IFD3|Q96RB3	Nonsense_Mutation	SNP	ENST00000333976.4	37	c.622G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	10.04	1.242711	0.22796	.	.	ENSG00000186119	ENST00000333976	.	.	.	4.85	3.92	0.45320	.	1.005710	0.08015	N	0.991100	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	0.2984	7.6562	0.28377	0.0887:0.0:0.7453:0.166	.	.	.	.	X	208	.	ENSP00000335025:E208X	E	+	1	0	OR5D18	55344303	0.000000	0.05858	0.891000	0.34965	0.219000	0.24729	0.634000	0.24614	2.462000	0.83206	0.567000	0.79289	GAA		0.448	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		14	494	1	0	1.05317e-09	0.119110	1.14331e-09	14	494				
DIP2B	57609	broad.mit.edu	37	12	51065103	51065103	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:51065103G>A	ENST00000301180.5	+	5	596	c.562G>A	c.(562-564)Gca>Aca	p.A188T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	188	Ser-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTCTTCATCCGCATCTTCTAC	0.517																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(562-564)Gca>Aca		DIP2 disco-interacting protein 2 homolog B (Drosophila)							144.0	123.0	130.0					12																	51065103		2203	4300	6503	SO:0001583	missense	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51065103G>A	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.562G>A	12.37:g.51065103G>A	ENSP00000301180:p.Ala188Thr						p.A188T	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			5	596	+			188			Ser-rich.		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	ENST00000301180.5	37	c.562G>A	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.008645	0.75046	.	.	ENSG00000066084	ENST00000455310;ENST00000301180	T	0.25250	1.81	5.26	5.26	0.73747	.	0.044471	0.85682	D	0.000000	T	0.39517	0.1081	L	0.46614	1.455	0.80722	D	1	B;D	0.76494	0.325;0.999	B;P	0.57152	0.085;0.814	T	0.01791	-1.1273	10	0.27082	T	0.32	-15.8058	19.1286	0.93396	0.0:0.0:1.0:0.0	.	188;198	Q9P265;E9PHD6	DIP2B_HUMAN;.	T	198;188	ENSP00000301180:A188T	ENSP00000301180:A188T	A	+	1	0	DIP2B	49351370	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	9.260000	0.95568	2.758000	0.94735	0.586000	0.80456	GCA		0.517	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		5	498	0	0	0	0.014758	0	5	498				
SYNE1	23345	broad.mit.edu	37	6	152777116	152777116	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:152777116T>G	ENST00000367255.5	-	23	3233	c.2632A>C	c.(2632-2634)Agt>Cgt	p.S878R	SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	878					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTTTGAACACTTTGACTGCCT	0.363										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(2632-2634)Agt>Cgt		spectrin repeat containing, nuclear envelope 1							144.0	132.0	136.0					6																	152777116		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152777116T>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.2632A>C	6.37:g.152777116T>G	ENSP00000356224:p.Ser878Arg	HNSCC(10;0.0054)				SYNE1_ENST00000265368.4_Missense_Mutation_p.S878R|SYNE1_ENST00000367248.3_Missense_Mutation_p.S868R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S885R|SYNE1_ENST00000448038.1_Missense_Mutation_p.S885R|SYNE1_ENST00000413186.2_Missense_Mutation_p.S878R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S930R|SYNE1_ENST00000367253.4_Missense_Mutation_p.S878R|SYNE1_ENST00000495090.2_Missense_Mutation_p.S445R	p.S878R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	23	3233	-		Ovarian(120;0.0955)	878					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.2632A>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	T	15.54	2.865046	0.51482	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.52983	1.44;1.44;1.44;1.44;0.64;1.44;1.44;1.44;1.44	5.25	4.09	0.47781	.	0.427135	0.21974	N	0.066416	T	0.20861	0.0502	L	0.34521	1.04	0.80722	D	1	B;B;B;P;B;B;B	0.35077	0.112;0.215;0.404;0.483;0.321;0.215;0.21	B;B;B;B;B;B;B	0.36244	0.074;0.063;0.22;0.203;0.146;0.063;0.146	T	0.05937	-1.0855	10	0.52906	T	0.07	.	8.2238	0.31558	0.0:0.1536:0.0:0.8464	.	861;878;445;868;878;878;885	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	R	878;885;878;885;930;878;868;878;445	ENSP00000356224:S878R;ENSP00000396024:S885R;ENSP00000265368:S878R;ENSP00000390975:S885R;ENSP00000341887:S930R;ENSP00000356222:S878R;ENSP00000356217:S868R;ENSP00000414510:S878R;ENSP00000438508:S445R	ENSP00000265368:S878R	S	-	1	0	SYNE1	152818809	0.025000	0.19082	0.998000	0.56505	0.967000	0.64934	1.554000	0.36266	0.845000	0.35118	0.533000	0.62120	AGT		0.363	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		6	380	0	0	0	0.029380	0	6	380				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			11	202	0	0	0	0.080935	0	11	202				
ATG3	64422	broad.mit.edu	37	3	112267472	112267472	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:112267472C>T	ENST00000283290.5	-	5	685	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000402314.2_Missense_Mutation_p.R84Q	NM_022488.3	NP_071933.2	Q9NT62	ATG3_HUMAN	autophagy related 3	84					autophagic vacuole assembly (GO:0000045)|cellular protein modification process (GO:0006464)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)|protein targeting to membrane (GO:0006612)|protein ubiquitination (GO:0016567)|regulation of cilium assembly (GO:1902017)	cytoplasmic ubiquitin ligase complex (GO:0000153)|cytosol (GO:0005829)	Atg12 ligase activity (GO:0019777)|Atg8 ligase activity (GO:0019776)|enzyme binding (GO:0019899)|small conjugating protein ligase activity (GO:0019787)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						CTGTTTGCACCGCTTATAGCA	0.378																																						ENST00000402314.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(3)	9						c.(250-252)cGg>cAg		autophagy related 3							129.0	115.0	119.0					3																	112267472		2203	4299	6502	SO:0001583	missense	64422				autophagic vacuole assembly|mitochondrial fragmentation involved in apoptosis|protein targeting to membrane|protein ubiquitination	cytoplasmic ubiquitin ligase complex|cytosol	Atg12 ligase activity|Atg8 ligase activity|enzyme binding	g.chr3:112267472C>T		CCDS2966.1, CCDS63721.1	3q13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000144848	ENSG00000144848			20962	protein-coding gene	gene with protein product		609606	"""APG3 autophagy 3-like (S. cerevisiae)"", ""ATG3 autophagy related 3 homolog (S. cerevisiae)"""	APG3L		11825910	Standard	NM_022488		Approved	PC3-96, FLJ22125, MGC15201, DKFZp564M1178	uc003dzd.3	Q9NT62	OTTHUMG00000159260	ENST00000283290.5:c.251G>A	3.37:g.112267472C>T	ENSP00000283290:p.Arg84Gln					ATG3_ENST00000495756.1_5'UTR|ATG3_ENST00000283290.5_Missense_Mutation_p.R84Q	p.R84Q			Q9NT62	ATG3_HUMAN			5	638	-			84					Q6PKC5|Q9H6L9	Missense_Mutation	SNP	ENST00000283290.5	37	c.251G>A	CCDS2966.1	.	.	.	.	.	.	.	.	.	.	C	35	5.539479	0.96474	.	.	ENSG00000144848	ENST00000283290;ENST00000402314	.	.	.	5.32	5.32	0.75619	Autophagy-related protein 3, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	M	0.93638	3.44	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74023	0.982;0.974	D	0.90176	0.4239	9	0.87932	D	0	0.0444	18.5844	0.91183	0.0:1.0:0.0:0.0	.	84;84	Q9NT62;Q9NT62-2	ATG3_HUMAN;.	Q	84	.	ENSP00000283290:R84Q	R	-	2	0	ATG3	113750162	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.416000	0.66417	2.482000	0.83794	0.591000	0.81541	CGG		0.378	ATG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354147.1	NM_022488		7	211	0	0	0	0.029380	0	7	211				
TIAM1	7074	broad.mit.edu	37	21	32493078	32493078	+	Missense_Mutation	SNP	C	C	T	rs200252911		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:32493078C>T	ENST00000286827.3	-	29	4855	c.4384G>A	c.(4384-4386)Gtc>Atc	p.V1462I	TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1462					apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CTTGCGGAGACGGCATCAGAA	0.562																																						ENST00000286827.3																			0				autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						c.(4384-4386)Gtc>Atc		T-cell lymphoma invasion and metastasis 1		C	ILE/VAL	0,4406		0,0,2203	43.0	46.0	45.0		4384	2.2	0.7	21		45	1,8599	1.2+/-3.3	0,1,4299	no	missense	TIAM1	NM_003253.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1462/1592	32493078	1,13005	2203	4300	6503	SO:0001583	missense	7074				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr21:32493078C>T		CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4384G>A	21.37:g.32493078C>T	ENSP00000286827:p.Val1462Ile					TIAM1_ENST00000541036.1_Missense_Mutation_p.V1402I	p.V1462I	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN			29	4855	-			1462					B7ZLR6|F5GZ53|Q17RT7	Missense_Mutation	SNP	ENST00000286827.3	37	c.4384G>A	CCDS13609.1	.	.	.	.	.	.	.	.	.	.	C	9.128	1.010725	0.19277	0.0	1.16E-4	ENSG00000156299	ENST00000286827;ENST00000541036	T;T	0.39056	1.1;1.11	5.14	2.2	0.27929	.	0.290368	0.32147	N	0.006505	T	0.20981	0.0505	N	0.13235	0.315	0.27602	N	0.948927	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.17471	-1.0368	10	0.20046	T	0.44	.	6.7271	0.23363	0.0:0.5879:0.0:0.4121	.	1402;1462	F5GZ53;Q13009	.;TIAM1_HUMAN	I	1462;1402	ENSP00000286827:V1462I;ENSP00000441570:V1402I	ENSP00000286827:V1462I	V	-	1	0	TIAM1	31414949	0.308000	0.24509	0.735000	0.30896	0.916000	0.54674	0.220000	0.17660	0.129000	0.18514	-0.140000	0.14226	GTC		0.562	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253		14	392	0	0	0	0.132662	0	14	392				
TRBV5-7	28608	broad.mit.edu	37	7	142111625	142111625	+	RNA	SNP	G	G	T	rs201768550	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:142111625G>T	ENST00000390378.1	-	0	110									T cell receptor beta variable 5-7 (non-functional)																		TCAGAGTCACGTGCTGTCCTC	0.532													.|||	2	0.000399361	0.0	0.0014	5008	,	,		20313	0.0		0.0	False		,,,				2504	0.001					ENST00000390378.1																			0																				146.0	139.0	141.0					7																	142111625		1995	4171	6166			0							g.chr7:142111625G>T	L36092		7q34	2012-02-07	2008-09-11		ENSG00000211731	ENSG00000211731		"""T cell receptors / TRB locus"""	12224	other	T cell receptor gene			"""T cell receptor beta variable 5-7"""			8650574	Standard	NG_001333		Approved	TRBV57, TCRBV5S7, TCRBV5S7P			OTTHUMG00000158897		7.37:g.142111625G>T														0	110	-									RNA	SNP	ENST00000390378.1	37																																																																																						0.532	TRBV5-7-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352509.1	NG_001333		8	732	1	0	1.96292e-10	0.055883	2.14056e-10	8	732				
PRG4	10216	broad.mit.edu	37	1	186276027	186276027	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276027T>C	ENST00000445192.2	+	7	1221	c.1176T>C	c.(1174-1176)acT>acC	p.T392T	PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	392	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.637																																						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.(1174-1176)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276027T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1176T>C	1.37:g.186276027T>C						PRG4_ENST00000367484.3_Silent_p.T351T|PRG4_ENST00000367483.4_Silent_p.T351T|PRG4_ENST00000367486.3_Silent_p.T349T|PRG4_ENST00000367485.4_Silent_p.T299T	p.T392T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1221	+			392			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1176T>C	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		24	836	0	0	0	0.139131	0	24	836				
KRT7	3855	broad.mit.edu	37	12	52639299	52639299	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:52639299G>T	ENST00000331817.5	+	7	1271	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	363	Coil 2.|Rod.				viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	GCCCTGCAGCGGGGCAAGCAG	0.647																																						ENST00000331817.5																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14						c.(1087-1089)cGg>cTg		keratin 7							47.0	48.0	48.0					12																	52639299		2203	4300	6503	SO:0001583	missense	3855				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	g.chr12:52639299G>T		CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.1088G>T	12.37:g.52639299G>T	ENSP00000329243:p.Arg363Leu					RP3-416H24.1_ENST00000546686.1_RNA|KRT7_ENST00000552322.1_3'UTR	p.R363L	NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.105)	7	1271	+			363			Coil 2.|Rod.		Q92676|Q9BUD8|Q9Y3R7	Missense_Mutation	SNP	ENST00000331817.5	37	c.1088G>T	CCDS8822.1	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739868	0.30865	.	.	ENSG00000135480	ENST00000331817;ENST00000422319	D	0.89050	-2.46	4.4	1.11	0.20524	Filament (1);	1.896280	0.03317	N	0.191374	D	0.86447	0.5935	L	0.47190	1.495	0.29184	N	0.876328	P	0.43701	0.815	B	0.40477	0.33	T	0.75634	-0.3250	10	0.87932	D	0	.	8.4518	0.32875	0.7315:0.0:0.2685:0.0	.	363	P08729	K2C7_HUMAN	L	363;339	ENSP00000329243:R363L	ENSP00000329243:R363L	R	+	2	0	KRT7	50925566	0.867000	0.29959	0.022000	0.16811	0.005000	0.04900	1.090000	0.30902	0.096000	0.17463	-0.258000	0.10820	CGG		0.647	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404897.1	NM_005556		5	442	1	0	0.00116845	0.021553	0.00120856	5	442				
SLC7A3	84889	broad.mit.edu	37	X	70146816	70146816	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:70146816C>A	ENST00000374299.3	-	9	1506	c.1362G>T	c.(1360-1362)gaG>gaT	p.E454D	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	454					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGGTCAACTTCTCTGATTCAG	0.468																																						ENST00000374299.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31						c.(1360-1362)gaG>gaT		solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)						124.0	116.0	119.0					X																	70146816		2203	4300	6503	SO:0001583	missense	84889				cellular nitrogen compound metabolic process	integral to membrane|plasma membrane		g.chrX:70146816C>A	AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.1362G>T	X.37:g.70146816C>A	ENSP00000363417:p.Glu454Asp					SLC7A3_ENST00000298085.4_Missense_Mutation_p.E454D	p.E454D			Q8WY07	CTR3_HUMAN			9	1506	-	Renal(35;0.156)		454					D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Missense_Mutation	SNP	ENST00000374299.3	37	c.1362G>T	CCDS14404.1	.	.	.	.	.	.	.	.	.	.	C	9.547	1.114898	0.20795	.	.	ENSG00000165349	ENST00000374299;ENST00000298085	D;D	0.88664	-2.41;-2.41	5.31	2.39	0.29439	.	0.537794	0.13865	U	0.357372	D	0.86301	0.5900	L	0.46157	1.445	0.09310	N	0.999999	B	0.23650	0.089	B	0.35727	0.209	T	0.76189	-0.3050	10	0.44086	T	0.13	.	9.0769	0.36527	0.0:0.7342:0.0:0.2658	.	454	Q8WY07	CTR3_HUMAN	D	454	ENSP00000363417:E454D;ENSP00000298085:E454D	ENSP00000298085:E454D	E	-	3	2	SLC7A3	70063541	0.579000	0.26725	0.881000	0.34555	0.226000	0.24999	0.230000	0.17852	0.158000	0.19367	0.529000	0.55759	GAG		0.468	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803		17	313	1	0	3.32936e-07	0.175082	3.56611e-07	17	313				
LRRIQ4	344657	broad.mit.edu	37	3	169539979	169539979	+	Silent	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:169539979G>T	ENST00000340806.6	+	1	270	c.270G>T	c.(268-270)ctG>ctT	p.L90L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	90										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						GCCCGGCGCTGGGGCTGCTGA	0.567																																						ENST00000340806.6																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						c.(268-270)ctG>ctT		leucine-rich repeats and IQ motif containing 4							68.0	74.0	72.0					3																	169539979		1945	4130	6075	SO:0001819	synonymous_variant	344657							g.chr3:169539979G>T		CCDS46951.1	3q26.2	2008-08-08	2008-06-12	2008-06-12	ENSG00000188306	ENSG00000188306			34298	protein-coding gene	gene with protein product	"""leucine rich repeat containing 64"""						Standard	NM_001080460		Approved	LRRC64	uc003fgb.3	A6NIV6	OTTHUMG00000164420	ENST00000340806.6:c.270G>T	3.37:g.169539979G>T							p.L90L	NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN			1	270	+			90						Silent	SNP	ENST00000340806.6	37	c.270G>T	CCDS46951.1																																																																																				0.567	LRRIQ4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378698.1	NM_001080460		10	632	1	0	0.0809354	0.080935	0.0826501	10	632				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			5	212	0	0	0	0.146539	0	5	212				
TGM5	9333	broad.mit.edu	37	15	43527834	43527834	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:43527834G>A	ENST00000220420.5	-	10	1554	c.1547C>T	c.(1546-1548)cCg>cTg	p.P516L	TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	516					cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	CATGTTGGGCGGGTCGAGCAG	0.567																																						ENST00000220420.5																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44						c.(1546-1548)cCg>cTg		transglutaminase 5	L-Glutamine(DB00130)						108.0	90.0	96.0					15																	43527834		2203	4299	6502	SO:0001583	missense	9333				epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr15:43527834G>A	AF035960	CCDS32211.1, CCDS32212.1	15q15	2004-07-07				ENSG00000104055		"""Transglutaminases"""	11781	protein-coding gene	gene with protein product		603805				9452468, 11390390	Standard	NM_201631		Approved	TGX	uc001zrd.2	O43548		ENST00000220420.5:c.1547C>T	15.37:g.43527834G>A	ENSP00000220420:p.Pro516Leu					TGM5_ENST00000349114.4_Missense_Mutation_p.P434L	p.P516L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN		GBM - Glioblastoma multiforme(94;4e-07)	10	1554	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)	516					O43549|Q0VF40|Q9UEZ4	Missense_Mutation	SNP	ENST00000220420.5	37	c.1547C>T	CCDS32212.1	.	.	.	.	.	.	.	.	.	.	G	6.234	0.411308	0.11812	.	.	ENSG00000104055	ENST00000220420;ENST00000349114;ENST00000396996	T;T	0.68624	-0.34;-0.34	5.58	3.58	0.41010	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.439796	0.24666	N	0.036588	T	0.54838	0.1883	L	0.47016	1.485	0.09310	N	1	B;B	0.30937	0.136;0.301	B;B	0.24269	0.024;0.052	T	0.49041	-0.8980	10	0.39692	T	0.17	-0.4586	10.2275	0.43233	0.0:0.1477:0.6995:0.1528	.	434;516	O43548-2;O43548	.;TGM5_HUMAN	L	516;434;515	ENSP00000220420:P516L;ENSP00000220419:P434L	ENSP00000220420:P516L	P	-	2	0	TGM5	41315126	0.094000	0.21725	0.008000	0.14137	0.083000	0.17756	2.334000	0.43920	1.351000	0.45789	-0.165000	0.13383	CCG		0.567	TGM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432257.1	NM_004245		11	235	0	0	0	0.093190	0	11	235				
CCDC70	83446	broad.mit.edu	37	13	52439917	52439917	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:52439917T>A	ENST00000242819.4	+	2	699	c.403T>A	c.(403-405)Ttc>Atc	p.F135I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	135						extracellular region (GO:0005576)|plasma membrane (GO:0005886)				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGATAAGGCCTTCTGGAAAGA	0.478																																						ENST00000242819.4																			0				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15						c.(403-405)Ttc>Atc		coiled-coil domain containing 70							122.0	134.0	130.0					13																	52439917		2203	4300	6503	SO:0001583	missense	83446					extracellular region|plasma membrane		g.chr13:52439917T>A		CCDS9431.1	13q14.3	2006-02-07			ENSG00000123171	ENSG00000123171			25303	protein-coding gene	gene with protein product						11230166	Standard	NM_031290		Approved	DKFZP434K1172, FLJ25853	uc001vfu.4	Q6NSX1	OTTHUMG00000016950	ENST00000242819.4:c.403T>A	13.37:g.52439917T>A	ENSP00000242819:p.Phe135Ile						p.F135I	NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN		GBM - Glioblastoma multiforme(99;2.4e-08)	2	699	+		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)	135					Q8N7A8|Q9H097	Missense_Mutation	SNP	ENST00000242819.4	37	c.403T>A	CCDS9431.1	.	.	.	.	.	.	.	.	.	.	T	12.48	1.949934	0.34377	.	.	ENSG00000123171	ENST00000242819	T	0.20738	2.05	5.78	-0.997	0.10215	.	0.097664	0.45606	D	0.000357	T	0.30230	0.0758	M	0.70595	2.14	0.09310	N	1	D	0.56287	0.975	P	0.53035	0.716	T	0.17077	-1.0381	10	0.42905	T	0.14	-25.4087	10.0609	0.42275	0.0:0.3629:0.0:0.6371	.	135	Q6NSX1	CCD70_HUMAN	I	135	ENSP00000242819:F135I	ENSP00000242819:F135I	F	+	1	0	CCDC70	51337918	0.963000	0.33076	0.000000	0.03702	0.005000	0.04900	1.723000	0.38053	-0.085000	0.12573	-0.256000	0.11100	TTC		0.478	CCDC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045033.2	NM_031290		44	947	0	0	0	0.092188	0	44	947				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		8	671	0	0	0	0.069234	0	8	671				
PRG4	10216	broad.mit.edu	37	1	186276075	186276075	+	Silent	SNP	T	T	C	rs540749159	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276075T>C	ENST00000445192.2	+	7	1269	c.1224T>C	c.(1222-1224)acT>acC	p.T408T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367485.4_Silent_p.T315T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	408	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T408T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACTCCCAAGGAGC	0.662													-|||	16	0.00319489	0.0053	0.0014	5008	,	,		9339	0.001		0.003	False		,,,				2504	0.0041					ENST00000445192.2																			1	Substitution - coding silent(1)	p.T408T(1)	kidney(1)	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.(1222-1224)acT>acC		proteoglycan 4																																				SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276075T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1224T>C	1.37:g.186276075T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T367T|PRG4_ENST00000367486.3_Silent_p.T365T|PRG4_ENST00000367485.4_Silent_p.T315T	p.T408T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1269	+			408			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1224T>C	CCDS1369.1																																																																																				0.662	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		41	732	0	0	0	0.139131	0	41	732				
HSD17B2	3294	broad.mit.edu	37	16	82131809	82131809	+	Missense_Mutation	SNP	A	A	G	rs529224978		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:82131809A>G	ENST00000199936.4	+	5	1125	c.932A>G	c.(931-933)aAc>aGc	p.N311S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	311					in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|response to retinoic acid (GO:0032526)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity (GO:0047006)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						CTATTGATCAACTCGTTAGCC	0.542													a|||	1	0.000199681	0.0008	0.0	5008	,	,		17915	0.0		0.0	False		,,,				2504	0.0					ENST00000199936.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(931-933)aAc>aGc		hydroxysteroid (17-beta) dehydrogenase 2	NADH(DB00157)						174.0	132.0	146.0					16																	82131809		2201	4300	6501	SO:0001583	missense	3294				response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr16:82131809A>G		CCDS10936.1	16q24.1-q24.2	2011-09-14			ENSG00000086696	ENSG00000086696	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5211	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 2"""	109685				7759109, 19027726	Standard	NM_002153		Approved	HSD17, SDR9C2	uc002fgv.3	P37059	OTTHUMG00000137631	ENST00000199936.4:c.932A>G	16.37:g.82131809A>G	ENSP00000199936:p.Asn311Ser					RP11-510J16.5_ENST00000567021.1_RNA	p.N311S	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN			5	1125	+			311					B2R7T4	Missense_Mutation	SNP	ENST00000199936.4	37	c.932A>G	CCDS10936.1	.	.	.	.	.	.	.	.	.	.	a	5.085	0.201396	0.09652	.	.	ENSG00000086696	ENST00000199936	D	0.83419	-1.72	5.57	-9.36	0.00629	NAD(P)-binding domain (1);	2.782280	0.00732	N	0.000947	T	0.56645	0.1999	N	0.11064	0.09	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.57740	-0.7759	10	0.08837	T	0.75	.	0.9019	0.01276	0.281:0.2882:0.2436:0.1872	.	311	P37059	DHB2_HUMAN	S	311	ENSP00000199936:N311S	ENSP00000199936:N311S	N	+	2	0	HSD17B2	80689310	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.845000	0.01677	-1.859000	0.01156	0.533000	0.62120	AAC		0.542	HSD17B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269057.2	NM_002153		20	502	0	0	0	0.049695	0	20	502				
CSH2	1443	broad.mit.edu	37	17	61949520	61949520	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:61949520T>A	ENST00000392886.2	-	5	771	c.620A>T	c.(619-621)cAg>cTg	p.Q207L	CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L|CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	207						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						AGAGCGGCACTGCACCATGCG	0.592																																						ENST00000392886.2																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(619-621)cAg>cTg		chorionic somatomammotropin hormone 2							139.0	116.0	124.0					17																	61949520		2203	4300	6503	SO:0001583	missense	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61949520T>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.620A>T	17.37:g.61949520T>A	ENSP00000376623:p.Gln207Leu					CSH2_ENST00000345366.7_Missense_Mutation_p.Q112L|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.Q150L	p.Q207L	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN			5	771	-			207					P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000392886.2	37	c.620A>T	CCDS42369.1	.	.	.	.	.	.	.	.	.	.	N	14.32	2.499020	0.44455	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;T	0.90676	-2.71;0.93	3.97	2.88	0.33553	Somatotropin hormone, conserved site (1);Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.587450	0.04964	N	0.462618	D	0.95529	0.8547	M	0.85630	2.765	0.32011	N	0.602031	D;D;P	0.64830	0.994;0.994;0.728	D;D;B	0.74674	0.984;0.984;0.42	D	0.84470	0.0599	10	0.87932	D	0	.	8.0549	0.30600	0.0:0.101:0.0:0.899	.	207;207;112	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	L	112;207	ENSP00000308396:Q112L;ENSP00000376623:Q207L	ENSP00000308396:Q112L	Q	-	2	0	CSH2	59303252	1.000000	0.71417	0.999000	0.59377	0.018000	0.09664	3.847000	0.55895	0.570000	0.29347	0.379000	0.24179	CAG		0.592	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		20	434	0	0	0	0.043863	0	20	434				
CCNB3	85417	broad.mit.edu	37	X	50054016	50054016	+	Silent	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:50054016A>G	ENST00000376042.1	+	6	3145	c.2847A>G	c.(2845-2847)ttA>ttG	p.L949L	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L			Q8WWL7	CCNB3_HUMAN	cyclin B3	949					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)		p.L949L(5)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGGAGCCATTAGCCTTACAAG	0.483																																						ENST00000376042.1																			5	Substitution - coding silent(5)	p.L949L(5)	prostate(3)|lung(2)	breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(2845-2847)ttA>ttG		cyclin B3							87.0	82.0	84.0					X																	50054016		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50054016A>G	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2847A>G	X.37:g.50054016A>G						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.L949L	p.L949L			Q8WWL7	CCNB3_HUMAN			6	3145	+	Ovarian(276;0.236)		949					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.2847A>G	CCDS14331.1																																																																																				0.483	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			6	604	0	0	0	0.021553	0	6	604				
NUFIP2	57532	broad.mit.edu	37	17	27613833	27613833	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27613833T>C	ENST00000225388.4	-	2	1237	c.1179A>G	c.(1177-1179)caA>caG	p.Q393Q	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	393	Ser-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GACTTGATGATTGGGTCTGAG	0.433																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(1177-1179)caA>caG		nuclear fragile X mental retardation protein interacting protein 2							141.0	142.0	141.0					17																	27613833		2203	4300	6503	SO:0001819	synonymous_variant	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27613833T>C	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.1179A>G	17.37:g.27613833T>C						NUFIP2_ENST00000579665.1_Intron	p.Q393Q	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		2	1237	-			393			Ser-rich.		A1L3A6|Q9P2M5	Silent	SNP	ENST00000225388.4	37	c.1179A>G	CCDS32600.1																																																																																				0.433	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		47	596	0	0	0	0.139131	0	47	596				
ZFP36	7538	broad.mit.edu	37	19	39899271	39899271	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:39899271G>T	ENST00000248673.3	+	2	971	c.913G>T	c.(913-915)Gca>Tca	p.A305S	ZFP36_ENST00000597629.1_Missense_Mutation_p.A311S|MIR4530_ENST00000581459.1_RNA	NM_003407.3	NP_003398.2	P26651	TTP_HUMAN	ZFP36 ring finger protein	305					3'-UTR-mediated mRNA stabilization (GO:0070935)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of inflammatory response (GO:0050728)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|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 tumor necrosis factor production (GO:0032680)|response to starvation (GO:0042594)|RNA destabilization (GO:0050779)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|nucleus (GO:0005634)	14-3-3 protein binding (GO:0071889)|AU-rich element binding (GO:0017091)|C-C chemokine binding (GO:0019957)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|single-stranded RNA binding (GO:0003727)			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGAGTTTTTGCACCACCCCA	0.617																																					NSCLC(67;1164 1324 12056 21056 30097)	ENST00000597629.1																			0				large_intestine(1)|lung(5)|pancreas(1)	7						c.(931-933)Gca>Tca		ZFP36 ring finger protein							25.0	27.0	26.0					19																	39899271		2202	4294	6496	SO:0001583	missense	7538				positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding	g.chr19:39899271G>T	M63625	CCDS12534.1, CCDS12534.2	19q13.1	2012-11-27	2012-11-27			ENSG00000128016		"""RING-type (C3HC4) zinc fingers"""	12862	protein-coding gene	gene with protein product		190700	"""zinc finger protein 36, C3H type, homolog (mouse)"""			1699942	Standard	NM_003407		Approved	RNF162A, TIS11, G0S24, TTP, NUP475, tristetraprolin	uc002olh.2	P26651		ENST00000248673.3:c.913G>T	19.37:g.39899271G>T	ENSP00000248673:p.Ala305Ser					ZFP36_ENST00000248673.3_Missense_Mutation_p.A305S	p.A311S			P26651	TTP_HUMAN	Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)		2	1005	+	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		305					B2RA54	Missense_Mutation	SNP	ENST00000248673.3	37	c.931G>T		.	.	.	.	.	.	.	.	.	.	G	0.008	-1.869606	0.00547	.	.	ENSG00000128016	ENST00000248673	T	0.15017	2.46	4.42	3.39	0.38822	.	0.727020	0.11822	U	0.526130	T	0.07683	0.0193	N	0.14661	0.345	0.09310	N	0.999994	B	0.09022	0.002	B	0.08055	0.003	T	0.40831	-0.9542	10	0.05959	T	0.93	-0.4342	5.3114	0.15833	0.1044:0.0:0.6949:0.2007	.	305	P26651	TTP_HUMAN	S	305	ENSP00000248673:A305S	ENSP00000248673:A305S	A	+	1	0	ZFP36	44591111	0.908000	0.30866	0.632000	0.29296	0.208000	0.24298	1.586000	0.36611	1.106000	0.41623	0.289000	0.19496	GCA		0.617	ZFP36-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				28	180	1	0	2.89935e-36	0.139131	3.20525e-36	28	180				
POLR2B	5431	broad.mit.edu	37	4	57876368	57876368	+	Intron	SNP	T	T	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:57876368T>G	ENST00000381227.1	+	12	1817				POLR2B_ENST00000441246.2_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000510355.1_Splice_Site|POLR2B_ENST00000314595.5_Intron			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AAGTGGCAGGTAAGTTAAAGT	0.353																																						ENST00000510355.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52						c.e1+2		polymerase (RNA) II (DNA directed) polypeptide B, 140kDa																																				SO:0001627	intron_variant	5431				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr4:57876368T>G		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.1405-159T>G	4.37:g.57876368T>G						POLR2B_ENST00000381227.1_Intron|POLR2B_ENST00000431623.2_Intron|POLR2B_ENST00000314595.5_Intron|POLR2B_ENST00000441246.2_Intron				P30876	RPB2_HUMAN			1	28	+	Glioma(25;0.08)|all_neural(26;0.181)							A8K1A8|Q8IZ61	Splice_Site	SNP	ENST00000381227.1	37		CCDS3511.1																																																																																				0.353	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938		12	25	0	0	0	0.043863	0	12	25				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|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	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	170	0	0	0	0.029380	0	5	170				
KRTAP5-1	387264	broad.mit.edu	37	11	1606186	1606186	+	Silent	SNP	A	A	G	rs137999496		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:1606186A>G	ENST00000382171.2	-	1	327	c.294T>C	c.(292-294)ggT>ggC	p.G98G	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	98	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGGAGCCACAACCCCCCTTGG	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(292-294)ggT>ggC		keratin associated protein 5-1							35.0	51.0	46.0					11																	1606186		2176	4272	6448	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606186A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.294T>C	11.37:g.1606186A>G						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G98G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	327	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	98			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.294T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		25	385	0	0	0	0.139131	0	25	385				
TRPM3	80036	broad.mit.edu	37	9	73151119	73151119	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:73151119T>C	ENST00000377110.3	-	25	5117	c.4874A>G	c.(4873-4875)aAc>aGc	p.N1625S	TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000377111.2_Intron			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1650					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						AGTGATGTTGTTGGACAGGGT	0.552																																						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.(4873-4875)aAc>aGc		transient receptor potential cation channel, subfamily M, member 3							398.0	385.0	389.0					9																	73151119		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73151119T>C	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.4874A>G	9.37:g.73151119T>C	ENSP00000366314:p.Asn1625Ser					TRPM3_ENST00000396280.5_Missense_Mutation_p.N1474S|TRPM3_ENST00000377106.1_Missense_Mutation_p.N1497S|TRPM3_ENST00000377105.1_Missense_Mutation_p.N1484S|TRPM3_ENST00000396292.4_Missense_Mutation_p.N1497S|TRPM3_ENST00000358082.3_Missense_Mutation_p.N1487S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000357533.2_Missense_Mutation_p.N1629S|TRPM3_ENST00000408909.2_Missense_Mutation_p.N1484S|TRPM3_ENST00000423814.3_Missense_Mutation_p.N1652S|TRPM3_ENST00000360823.2_Missense_Mutation_p.N1487S|TRPM3_ENST00000396285.1_Missense_Mutation_p.N1484S	p.N1625S	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN			25	5117	-			1650					A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377110.3	37	c.4874A>G	CCDS43835.1	.	.	.	.	.	.	.	.	.	.	T	11.08	1.534120	0.27475	.	.	ENSG00000083067	ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814	T;T;T;T;T;T;T;T;T;T	0.53640	0.66;0.64;0.64;0.61;0.66;0.61;0.64;0.64;0.64;0.65	5.77	4.62	0.57501	.	0.290243	0.39083	N	0.001479	T	0.51126	0.1656	N	0.24115	0.695	0.32672	N	0.516704	B;B;B;B;P;D;B	0.56035	0.318;0.318;0.213;0.378;0.73;0.974;0.213	B;B;B;B;B;D;B	0.67725	0.099;0.141;0.046;0.047;0.281;0.953;0.031	T	0.58194	-0.7679	10	0.25751	T	0.34	-32.5811	13.0652	0.59030	0.0:0.0:0.1343:0.8657	.	1625;1615;1629;1487;1484;1597;1484	Q9HCF6-2;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3	.;.;.;.;.;.;.	S	1625;1497;1487;1484;1629;1484;1484;1497;1487;1652	ENSP00000366314:N1625S;ENSP00000366310:N1497S;ENSP00000354066:N1487S;ENSP00000366309:N1484S;ENSP00000350140:N1629S;ENSP00000386127:N1484S;ENSP00000379581:N1484S;ENSP00000379587:N1497S;ENSP00000350791:N1487S;ENSP00000389542:N1652S	ENSP00000350140:N1629S	N	-	2	0	TRPM3	72340939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.505000	0.66981	0.985000	0.38656	0.533000	0.62120	AAC		0.552	TRPM3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214158.3	NM_206945		97	2223	0	0	0	0.139131	0	97	2223				
RP1L1	94137	broad.mit.edu	37	8	10466059	10466059	+	Missense_Mutation	SNP	C	C	T	rs200646824		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:10466059C>T	ENST00000382483.3	-	4	5772	c.5549G>A	c.(5548-5550)gGt>gAt	p.G1850D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1930					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGCCTCTACACCTTCTGACTC	0.642																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(5548-5550)gGt>gAt		retinitis pigmentosa 1-like 1							161.0	175.0	170.0					8																	10466059		1931	4121	6052	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10466059C>T	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5549G>A	8.37:g.10466059C>T	ENSP00000371923:p.Gly1850Asp						p.G1850D	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	5772	-			1850					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.5549G>A	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	7.404	0.633294	0.14322	.	.	ENSG00000183638	ENST00000382483	T	0.07800	3.16	3.37	2.48	0.30137	.	.	.	.	.	T	0.03434	0.0099	N	0.08118	0	0.09310	N	1	B	0.32893	0.389	B	0.21546	0.035	T	0.42582	-0.9443	9	0.35671	T	0.21	.	4.9671	0.14096	0.2063:0.6755:0.0:0.1182	.	1850	A6NKC6	.	D	1850	ENSP00000371923:G1850D	ENSP00000371923:G1850D	G	-	2	0	RP1L1	10503469	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-2.579000	0.00907	0.390000	0.25115	0.400000	0.26472	GGT		0.642	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	1696	0	0	0	0.029380	0	9	1696				
ZNFX1	57169	broad.mit.edu	37	20	47887081	47887081	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:47887081G>A	ENST00000396105.1	-	3	1514	c.1268C>T	c.(1267-1269)tCa>tTa	p.S423L	ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L|ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	423							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TATGCCTGATGATGAACACAT	0.448																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(1267-1269)tCa>tTa		zinc finger, NFX1-type containing 1							179.0	174.0	176.0					20																	47887081		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47887081G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.1268C>T	20.37:g.47887081G>A	ENSP00000379412:p.Ser423Leu					ZNFX1_ENST00000371754.4_Missense_Mutation_p.S423L|ZNFX1_ENST00000371752.1_Missense_Mutation_p.S423L	p.S423L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		3	1514	-			423					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.1268C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.323649	0.24080	.	.	ENSG00000124201	ENST00000396106;ENST00000371754;ENST00000371752;ENST00000396105;ENST00000371744;ENST00000455070	D;D;D;T;D	0.86769	-1.87;-2.17;-2.17;-0.79;-1.52	5.85	5.85	0.93711	.	0.517391	0.21337	N	0.076200	D	0.84719	0.5534	L	0.52759	1.655	0.09310	N	1	B	0.21905	0.062	B	0.18561	0.022	T	0.70502	-0.4854	10	0.25751	T	0.34	-3.7111	18.7272	0.91718	0.0:0.0:1.0:0.0	.	423	Q9P2E3	ZNFX1_HUMAN	L	423;423;423;423;423;227	ENSP00000360819:S423L;ENSP00000360817:S423L;ENSP00000379412:S423L;ENSP00000360809:S423L;ENSP00000413800:S227L	ENSP00000360809:S423L	S	-	2	0	ZNFX1	47320488	0.893000	0.30496	0.982000	0.44146	0.992000	0.81027	4.477000	0.60223	2.773000	0.95371	0.655000	0.94253	TCA		0.448	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		7	931	0	0	0	0.038147	0	7	931				
ZNF845	91664	broad.mit.edu	37	19	53855284	53855284	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:53855284G>A	ENST00000595091.1	+	5	1575	c.1356G>A	c.(1354-1356)tcG>tcA	p.S452S	ZNF845_ENST00000458035.1_Silent_p.S452S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	452					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.S452S(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCGAACCTTGAAA	0.398																																						ENST00000458035.1																			2	Substitution - coding silent(2)	p.S452S(2)	prostate(1)|kidney(1)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1354-1356)tcG>tcA		zinc finger protein 845							26.0	24.0	25.0					19																	53855284		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855284G>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.1356G>A	19.37:g.53855284G>A						ZNF845_ENST00000595091.1_Silent_p.S452S	p.S452S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1473	+			452						Silent	SNP	ENST00000595091.1	37	c.1356G>A	CCDS46170.1																																																																																				0.398	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		9	382	0	0	0	0.058154	0	9	382				
NUTM2B-AS1	101060691	broad.mit.edu	37	10	81443821	81443821	+	RNA	SNP	C	C	G	rs564183572		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:81443821C>G	ENST00000600376.1	-	0	54				RP11-119F19.2_ENST00000596088.1_RNA																							GCAGCACCATCGCCTCAGACC	0.612																																						ENST00000600376.1																			0																																																			0							g.chr10:81443821C>G																													10.37:g.81443821C>G						RP11-119F19.2_ENST00000596088.1_RNA								0	54	-									RNA	SNP	ENST00000600376.1	37																																																																																						0.612	RP11-119F19.2-004	KNOWN	basic	antisense	antisense	OTTHUMT00000461766.1			5	145	0	0	0	0.029380	0	5	145				
GOLGA8DP	100132979	broad.mit.edu	37	15	22709637	22709637	+	RNA	SNP	T	T	G	rs375512037		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:22709637T>G	ENST00000314246.8	-	0	1147				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CCCATCTGGTTTTTGAGTTTG	0.547																																						ENST00000314246.8																			0																																																			0							g.chr15:22709637T>G			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709637T>G														0	1147	-									RNA	SNP	ENST00000314246.8	37			.	.	.	.	.	.	.	.	.	.	t	4.705	0.131021	0.08981	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.921	0.921	0.19403	.	.	.	.	.	T	0.23330	0.0564	.	.	.	.	.	.	B	0.10296	0.003	B	0.08055	0.003	T	0.20773	-1.0265	6	0.25751	T	0.34	.	4.1761	0.10353	0.0:0.0:0.0:1.0	.	84	F8WBT8	.	H	84;84;302	.	ENSP00000327024:N84H	N	-	1	0	AC116165.1	20261001	0.018000	0.18449	0.020000	0.16555	0.004000	0.04260	2.215000	0.42862	0.684000	0.31448	0.228000	0.17796	AAC		0.547	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415613.1	NR_027407		7	963	0	0	0	0.029380	0	7	963				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C	rs368571207		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682																																						ENST00000432432.2																			1	Substitution - Missense(1)	p.E49G(1)	kidney(1)																																																0							g.chr2:95522772T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522772T>C								NR_040113.1						0	255	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.682	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			9	294	0	0	0	0.069234	0	9	294				
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637																																						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.(1129-1131)acC>acT		proteoglycan 4							171.0	164.0	166.0					1																	186275982		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186275982C>T	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.1131C>T	1.37:g.186275982C>T						PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367483.4_Silent_p.T336T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367485.4_Silent_p.T284T	p.T377T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1176	+			377			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1131C>T	CCDS1369.1																																																																																				0.637	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	1033	0	0	0	0.119110	0	8	1033				
TRBV5-4	28611	broad.mit.edu	37	7	142168890	142168890	+	RNA	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:142168890C>T	ENST00000454561.2	-	0	155									T cell receptor beta variable 5-4																		GGGCTTGGTCCTCCTGGGGAA	0.592																																						ENST00000454561.2																			0																				25.0	26.0	26.0					7																	142168890		1957	4131	6088			0							g.chr7:142168890C>T	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168890C>T														0	155	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.592	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	98	0	0	0	0.058154	0	4	98				
KIAA0100	9703	broad.mit.edu	37	17	26946933	26946933	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:26946933C>T	ENST00000528896.2	-	30	5539	c.5465G>A	c.(5464-5466)cGg>cAg	p.R1822Q	SPAG5-AS1_ENST00000414744.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000579924.2_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1822						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					CACATGCTGCCGCACAGCCTC	0.493																																						ENST00000528896.2																			0				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68						c.(5464-5466)cGg>cAg		KIAA0100							100.0	91.0	94.0					17																	26946933		2203	4300	6503	SO:0001583	missense	9703					extracellular region		g.chr17:26946933C>T	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5465G>A	17.37:g.26946933C>T	ENSP00000436773:p.Arg1822Gln					KIAA0100_ENST00000389003.3_Missense_Mutation_p.R1679Q|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R1679Q	p.R1822Q	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN			30	5539	-	Lung NSC(42;0.00431)		1822					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	ENST00000528896.2	37	c.5465G>A	CCDS32595.1	.	.	.	.	.	.	.	.	.	.	C	33	5.208479	0.95069	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.53423	0.62;0.62	5.53	5.53	0.82687	FMP27,  C-terminal (1);	0.051185	0.64402	D	0.000001	T	0.71576	0.3356	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.69826	-0.5040	10	0.38643	T	0.18	.	19.4358	0.94794	0.0:1.0:0.0:0.0	.	1822	Q14667	K0100_HUMAN	Q	1822;1792;1822;1679	ENSP00000436773:R1822Q;ENSP00000446443:R1679Q	ENSP00000005905:R1822Q	R	-	2	0	KIAA0100	23971060	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.448000	0.66612	2.768000	0.95171	0.655000	0.94253	CGG		0.493	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		13	383	0	0	0	0.093190	0	13	383				
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T	rs368832816		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		ATCTGCGCACCCGGAGGTGGG	0.607																																						ENST00000414583.2																			0																																																			0							g.chr22:24659813C>T	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659813C>T								NR_003714.1						0	3338	+									RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	NM_014549		7	30	0	0	0	0.047766	0	7	30				
ARHGAP33	115703	broad.mit.edu	37	19	36278842	36278842	+	Silent	SNP	A	A	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:36278842A>C	ENST00000007510.4	+	21	3519	c.3375A>C	c.(3373-3375)tcA>tcC	p.S1125S	ARHGAP33_ENST00000314737.5_Silent_p.S964S|ARHGAP33_ENST00000378944.5_Silent_p.S961S|AC002398.5_ENST00000433059.1_lincRNA			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	1125					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGGCCAATCACCCCCACTCC	0.667																																						ENST00000007510.4																			0				endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						c.(3373-3375)tcA>tcC		Rho GTPase activating protein 33							20.0	24.0	22.0					19																	36278842		2203	4298	6501	SO:0001819	synonymous_variant	115703				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	g.chr19:36278842A>C	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.3375A>C	19.37:g.36278842A>C						ARHGAP33_ENST00000378944.5_Silent_p.S961S|ARHGAP33_ENST00000314737.5_Silent_p.S964S	p.S1125S			O14559	RHG33_HUMAN			21	3519	+			1125					O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Silent	SNP	ENST00000007510.4	37	c.3375A>C																																																																																					0.667	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding		NM_052948		22	104	0	0	0	0.108266	0	22	104				
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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		6	376	0	0	0	0.080935	0	6	376				
NBPF10	100132406	broad.mit.edu	37	1	145359110	145359110	+	Missense_Mutation	SNP	G	G	C	rs4058802	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:145359110G>C	ENST00000342960.5	+	72	9085	c.9050G>C	c.(9049-9051)tGt>tCt	p.C3017S	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	575						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTTGAACTGTGTGACTCATGC	0.488													.|||	515	0.102835	0.1831	0.1311	5008	,	,		9674	0.0347		0.0775	False		,,,				2504	0.0706					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(9049-9051)tGt>tCt		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145359110G>C	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.9050G>C	1.37:g.145359110G>C	ENSP00000345684:p.Cys3017Ser					NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron	p.C3017S	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	72	9085	+	all_hematologic(923;0.032)		3017					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.9050G>C	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.347446	0.00219	.	.	ENSG00000163386	ENST00000342960	T	0.05513	3.43	.	.	.	.	.	.	.	.	T	0.00384	0.0012	N	0.01640	-0.785	0.09310	N	1	.	.	.	.	.	.	T	0.42732	-0.9434	5	0.02654	T	1	.	.	.	.	rs4058802	.	.	.	S	3017	ENSP00000345684:C3017S	ENSP00000345684:C3017S	C	+	2	0	NBPF10	144070467	0.001000	0.12720	0.001000	0.08648	0.020000	0.10135	-0.804000	0.04535	-1.251000	0.02494	-1.858000	0.00562	TGT		0.488	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	303	0	0	0	0.043863	0	5	303				
CAPN15	6650	broad.mit.edu	37	16	601540	601540	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:601540C>T	ENST00000219611.2	+	9	2584	c.2221C>T	c.(2221-2223)Cgt>Tgt	p.R741C	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	741	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										CCCGTGGGGCCGTTTCTCCTG	0.672																																						ENST00000219611.2																			0											c.(2221-2223)Cgt>Tgt		calpain 15							61.0	66.0	65.0					16																	601540		2200	4295	6495	SO:0001583	missense	6650							g.chr16:601540C>T	U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.2221C>T	16.37:g.601540C>T	ENSP00000219611:p.Arg741Cys					LA16c-366D1.3_ENST00000565879.1_RNA	p.R741C	NM_005632.2	NP_005623.1					9	2584	+								B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Missense_Mutation	SNP	ENST00000219611.2	37	c.2221C>T	CCDS10410.1	.	.	.	.	.	.	.	.	.	.	c	32	5.111900	0.94339	.	.	ENSG00000103326	ENST00000219611	D	0.87966	-2.32	5.26	5.26	0.73747	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.91459	0.7304	L	0.45470	1.425	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92323	0.5867	10	0.87932	D	0	.	17.4216	0.87516	0.0:1.0:0.0:0.0	.	741	O75808	CAN15_HUMAN	C	741	ENSP00000219611:R741C	ENSP00000219611:R741C	R	+	1	0	SOLH	541541	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.883000	0.69721	2.463000	0.83235	0.556000	0.70494	CGT		0.672	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239271.1	NM_005632		8	566	0	0	0	0.047766	0	8	566				
SALL1	6299	broad.mit.edu	37	16	51175661	51175661	+	Missense_Mutation	SNP	T	T	C	rs139646526	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:51175661T>C	ENST00000251020.4	-	2	505	c.472A>G	c.(472-474)Agc>Ggc	p.S158G	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.S61G|SALL1_ENST00000562674.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	158	Poly-Ser.				adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ccgccgctgctgctgctgctg	0.632													t|||	22	0.00439297	0.0113	0.0043	5008	,	,		12583	0.002		0.002	False		,,,				2504	0.0				GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(181-183)Agc>Ggc		spalt-like transcription factor 1		C	GLY/SER,GLY/SER	15,4347		0,15,2166	22.0	25.0	24.0		472,181	-0.4	0.0	16	dbSNP_134	24	6,8538		0,6,4266	no	missense,missense	SALL1	NM_002968.2,NM_001127892.1	56,56	0,21,6432	CC,CT,TT		0.0702,0.3439,0.1627	benign,benign	158/1325,61/1228	51175661	21,12885	2181	4272	6453	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175661T>C	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.472A>G	16.37:g.51175661T>C	ENSP00000251020:p.Ser158Gly					SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.S158G	p.S61G	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	612	-		all_cancers(37;0.0322)	158					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.181A>G	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-4.558861	0.00000	0.003439	7.02E-4	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.06142	3.35;3.34	0.225	-0.451	0.12214	.	0.955374	0.08430	N	0.947112	T	0.02610	0.0079	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.44390	-0.9331	9	0.16896	T	0.51	.	.	.	.	.	158	Q9NSC2	SALL1_HUMAN	G	158;61;122	ENSP00000251020:S158G;ENSP00000407914:S61G	ENSP00000251020:S158G	S	-	1	0	SALL1	49733162	0.610000	0.26983	0.003000	0.11579	0.002000	0.02628	0.506000	0.22658	-2.764000	0.00368	-2.812000	0.00111	AGC		0.632	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		5	251	0	0	0	0.029380	0	5	251				
ALK	238	broad.mit.edu	37	2	30143012	30143012	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:30143012C>T	ENST00000389048.3	-	1	1420	c.514G>A	c.(514-516)Gag>Aag	p.E172K	ALK_ENST00000431873.1_Missense_Mutation_p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	172					activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CTGAACAGCTCGCTGAGATTG	0.647			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													ENST00000389048.3			yes	Dom	yes	Familial neuroblastoma	2	2p23	238	"""T, Mis, A"""	anaplastic lymphoma kinase (Ki-1)			"""L, E, M"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	neuroblastoma	"""ALCL, NSCLC, Neuroblastoma"""	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	0				NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340						c.(514-516)Gag>Aag		anaplastic lymphoma receptor tyrosine kinase	Adenosine triphosphate(DB00171)						26.0	32.0	30.0					2																	30143012		2203	4300	6503	SO:0001583	missense	238	Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:30143012C>T	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.514G>A	2.37:g.30143012C>T	ENSP00000373700:p.Glu172Lys					ALK_ENST00000431873.1_Missense_Mutation_p.E172K	p.E172K	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN			1	1420	-	Acute lymphoblastic leukemia(172;0.155)		172					Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	c.514G>A	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	C	18.26	3.585036	0.66105	.	.	ENSG00000171094	ENST00000389048;ENST00000431873	T;T	0.80033	-1.33;2.7	5.33	5.33	0.75918	.	.	.	.	.	T	0.69886	0.3161	N	0.24115	0.695	0.32250	N	0.571579	B	0.28258	0.205	B	0.19666	0.026	T	0.68503	-0.5391	8	.	.	.	.	17.9759	0.89127	0.0:1.0:0.0:0.0	.	172	Q9UM73	ALK_HUMAN	K	172	ENSP00000373700:E172K;ENSP00000414027:E172K	.	E	-	1	0	ALK	29996516	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	2.012000	0.40932	2.652000	0.90054	0.655000	0.94253	GAG		0.647	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304		6	248	0	0	0	0.038147	0	6	248				
DENND5A	23258	broad.mit.edu	37	11	9225319	9225319	+	Silent	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:9225319A>G	ENST00000328194.3	-	4	1157	c.837T>C	c.(835-837)ctT>ctC	p.L279L	DENND5A_ENST00000530044.1_Silent_p.L279L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	279	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CAAATAGGGGAAGCTCATTGG	0.498																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(835-837)ctT>ctC		DENN/MADD domain containing 5A							71.0	76.0	75.0					11																	9225319		2201	4296	6497	SO:0001819	synonymous_variant	23258							g.chr11:9225319A>G	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.837T>C	11.37:g.9225319A>G						DENND5A_ENST00000530044.1_Silent_p.L279L	p.L279L	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			4	1157	-			279			DENN.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Silent	SNP	ENST00000328194.3	37	c.837T>C	CCDS31423.1																																																																																				0.498	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		5	574	0	0	0	0.014758	0	5	574				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		8	1351	0	0	0	0.021553	0	8	1351				
TET2	54790	broad.mit.edu	37	4	106157130	106157130	+	Nonsense_Mutation	SNP	T	T	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:106157130T>A	ENST00000540549.1	+	3	2891	c.2031T>A	c.(2029-2031)tgT>tgA	p.C677*	TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	677	Gln-rich.				5-methylcytosine catabolic process (GO:0006211)|cell cycle (GO:0007049)|DNA demethylation (GO:0080111)|histone H3-K4 trimethylation (GO:0080182)|kidney development (GO:0001822)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|protein O-linked glycosylation (GO:0006493)		DNA binding (GO:0003677)|ferrous iron binding (GO:0008198)|methylcytosine dioxygenase activity (GO:0070579)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGTCACTGTGTGGCACTAGAT	0.438			"""Mis N, F"""		MDS																																	ENST00000540549.1				Rec	yes		4	4q24	54790	"""Mis N, F"""	tet oncogene family member 2			L			MDS		0				NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314						c.(2029-2031)tgT>tgA		tet methylcytosine dioxygenase 2							109.0	107.0	108.0					4																	106157130		2203	4300	6503	SO:0001587	stop_gained	54790				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr4:106157130T>A	AB046766	CCDS3666.1, CCDS47120.1	4q24	2014-09-17	2011-09-30	2008-03-12	ENSG00000168769	ENSG00000168769			25941	protein-coding gene	gene with protein product		612839	"""KIAA1546"", ""tet oncogene family member 2"""	KIAA1546		10997877, 12646957	Standard	NM_017628		Approved	FLJ20032	uc003hxk.3	Q6N021	OTTHUMG00000131213	ENST00000540549.1:c.2031T>A	4.37:g.106157130T>A	ENSP00000442788:p.Cys677*					TET2_ENST00000545826.1_Nonsense_Mutation_p.C677*|TET2_ENST00000394764.1_Nonsense_Mutation_p.C677*|TET2_ENST00000305737.2_Nonsense_Mutation_p.C677*|TET2_ENST00000380013.4_Nonsense_Mutation_p.C677*|TET2_ENST00000413648.2_Nonsense_Mutation_p.C677*|TET2_ENST00000513237.1_Nonsense_Mutation_p.C698*	p.C677*			Q6N021	TET2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)	3	2891	+		Myeloproliferative disorder(5;0.0393)	677			Gln-rich.		B5MDU0|Q2TB88|Q3LIB8|Q96JX5|Q9HCM6|Q9NXW0	Nonsense_Mutation	SNP	ENST00000540549.1	37	c.2031T>A	CCDS47120.1	.	.	.	.	.	.	.	.	.	.	T	29.6	5.020328	0.93462	.	.	ENSG00000168769	ENST00000305737;ENST00000540549;ENST00000545826;ENST00000513237;ENST00000380013;ENST00000394764;ENST00000413648	.	.	.	5.6	-6.08	0.02151	.	0.621347	0.15973	N	0.235671	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	10.1181	0.42603	0.0:0.5241:0.1056:0.3704	.	.	.	.	X	677;677;677;698;677;677;677	.	ENSP00000265149:C677X	C	+	3	2	TET2	106376579	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-0.340000	0.07821	-0.678000	0.05224	0.533000	0.62120	TGT		0.438	TET2-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253952.2	NM_017628		5	398	0	0	0	0.021553	0	5	398				
CAPZA3	93661	broad.mit.edu	37	12	18891852	18891852	+	Missense_Mutation	SNP	A	A	G	rs374397815		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:18891852A>G	ENST00000317658.3	+	1	808	c.650A>G	c.(649-651)aAc>aGc	p.N217S	RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000539875.1_5'Flank|PLCZ1_ENST00000266505.7_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	217					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GAAATAGTTAACCAAGCTCAA	0.398																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(649-651)aAc>aGc		capping protein (actin filament) muscle Z-line, alpha 3		A	SER/ASN	0,4406		0,0,2203	64.0	66.0	65.0		650	4.8	1.0	12		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	CAPZA3	NM_033328.2	46	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	benign	217/300	18891852	1,13005	2203	4300	6503	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891852A>G	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.650A>G	12.37:g.18891852A>G	ENSP00000326238:p.Asn217Ser						p.N217S	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	808	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	217					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.650A>G	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972165	0.53614	0.0	1.16E-4	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.288858	0.31673	N	0.007253	T	0.61850	0.2380	L	0.41906	1.305	0.37992	D	0.933951	D	0.59767	0.986	P	0.58928	0.848	T	0.65158	-0.6236	9	0.40728	T	0.16	-22.2602	11.8334	0.52309	1.0:0.0:0.0:0.0	.	217	Q96KX2	CAZA3_HUMAN	S	217	.	ENSP00000326238:N217S	N	+	2	0	CAPZA3	18783119	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.478000	0.66806	2.021000	0.59480	0.379000	0.24179	AAC		0.398	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		8	250	0	0	0	0.038147	0	8	250				
AKAP4	8852	broad.mit.edu	37	X	49957303	49957303	+	Silent	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:49957303A>G	ENST00000376056.2	-	5	2184	c.2034T>C	c.(2032-2034)agT>agC	p.S678S	AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376064.3_Silent_p.S678S|AKAP4_ENST00000481402.1_5'UTR					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCTTCATCCCACTGGTACAGT	0.478																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(2032-2034)agT>agC		A kinase (PRKA) anchor protein 4							126.0	92.0	104.0					X																	49957303		2203	4300	6503	SO:0001819	synonymous_variant	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957303A>G	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.2034T>C	X.37:g.49957303A>G						AKAP4_ENST00000358526.2_Silent_p.S687S|AKAP4_ENST00000376058.2_Silent_p.S304S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Silent_p.S678S	p.S678S			Q5JQC9	AKAP4_HUMAN			5	2184	-	Ovarian(276;0.236)		687						Silent	SNP	ENST00000376056.2	37	c.2034T>C	CCDS14330.1																																																																																				0.478	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		9	281	0	0	0	0.058154	0	9	281				
KRTAP10-5	386680	broad.mit.edu	37	21	45999774	45999774	+	Missense_Mutation	SNP	T	T	C	rs200900562	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:45999774T>C	ENST00000400372.1	-	1	707	c.682A>G	c.(682-684)Ata>Gta	p.I228V	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	228	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.I228V(1)		endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGCCTGCATATGGGGCGGCAG	0.682													.|||	3	0.000599042	0.0	0.0	5008	,	,		18832	0.0		0.001	False		,,,				2504	0.002					ENST00000400372.1																			1	Substitution - Missense(1)	p.I228V(1)	lung(1)	endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(682-684)Ata>Gta		keratin associated protein 10-5							65.0	76.0	72.0					21																	45999774		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999774T>C	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.682A>G	21.37:g.45999774T>C	ENSP00000383223:p.Ile228Val					TSPEAR_ENST00000323084.4_Intron	p.I228V	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	707	-			228			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.682A>G	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	0.005	-2.194699	0.00299	.	.	ENSG00000241123	ENST00000400372	T	0.00640	6.03	3.66	-0.867	0.10655	.	.	.	.	.	T	0.00144	0.0004	N	0.00034	-2.555	0.21064	N	0.999794	B	0.20550	0.046	B	0.25405	0.06	T	0.45396	-0.9264	9	0.02654	T	1	.	3.5285	0.07768	0.1652:0.5698:0.1611:0.1039	.	228	P60370	KR105_HUMAN	V	228	ENSP00000383223:I228V	ENSP00000383223:I228V	I	-	1	0	KRTAP10-5	44824202	.	.	0.972000	0.41901	0.048000	0.14542	.	.	-0.051000	0.13334	-0.835000	0.03068	ATA		0.682	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			8	701	0	0	0	0.175082	0	8	701				
IFT122	55764	broad.mit.edu	37	3	129221571	129221571	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:129221571G>A	ENST00000348417.2	+	20	2470	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000296266.3_Missense_Mutation_p.R849H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	798					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACATCGCCCGCAAACTGGAC	0.597																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2545-2547)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							106.0	103.0	104.0					3																	129221571		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129221571G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2393G>A	3.37:g.129221571G>A	ENSP00000324005:p.Arg798His					IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H	p.R849H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			21	2738	+			798					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2546G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455763	0.96223	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.65364	0.5;-0.15;-0.01;0.07;0.64;0.66;0.48;0.07;0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.994;0.997;1.0;1.0	D;D;D;P;D;D;P;P;D;D	0.81914	0.966;0.995;0.988;0.875;0.993;0.948;0.624;0.792;0.925;0.966	T	0.80919	-0.1167	10	0.59425	D	0.04	-14.9855	20.422	0.99049	0.0:0.0:1.0:0.0	.	589;124;790;185;674;638;687;739;798;849	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	739;849;790;739;648;674;687;798;638;589;295;160	ENSP00000323973:R739H;ENSP00000296266:R849H;ENSP00000425536:R790H;ENSP00000410946:R648H;ENSP00000422179:R674H;ENSP00000324165:R687H;ENSP00000324005:R798H;ENSP00000401569:R589H;ENSP00000424727:R295H	ENSP00000296266:R849H	R	+	2	0	IFT122	130704261	1.000000	0.71417	0.965000	0.40720	0.817000	0.46193	9.587000	0.98229	2.832000	0.97577	0.655000	0.94253	CGC		0.597	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		6	856	0	0	0	0.021553	0	6	856				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			9	234	0	0	0	0.058154	0	9	234				
PRG4	10216	broad.mit.edu	37	1	186276615	186276615	+	Silent	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:186276615T>C	ENST00000445192.2	+	7	1809	c.1764T>C	c.(1762-1764)acT>acC	p.T588T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T547T|PRG4_ENST00000367486.3_Silent_p.T545T|PRG4_ENST00000367485.4_Silent_p.T495T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	588	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.T588T(3)		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						CACCCACCACTCCCAAGGAAC	0.652																																						ENST00000445192.2																			3	Substitution - coding silent(3)	p.T588T(3)	endometrium(2)|lung(1)	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.(1762-1764)acT>acC		proteoglycan 4							95.0	91.0	93.0					1																	186276615		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276615T>C	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1764T>C	1.37:g.186276615T>C						PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Silent_p.T547T|PRG4_ENST00000367486.3_Silent_p.T545T|PRG4_ENST00000367485.4_Silent_p.T495T	p.T588T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1809	+			588			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1764T>C	CCDS1369.1																																																																																				0.652	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		25	592	0	0	0	0.139131	0	25	592				
KIAA1045	23349	broad.mit.edu	37	9	34971580	34971580	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:34971580G>T	ENST00000242315.3	+	2	367	c.285G>T	c.(283-285)agG>agT	p.R95S	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	95							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGTTTGACAGGACAAGTCGAT	0.622																																						ENST00000242315.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(283-285)agG>agT		KIAA1045							105.0	121.0	116.0					9																	34971580		2011	4162	6173	SO:0001583	missense	23349						calcium ion binding	g.chr9:34971580G>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.285G>T	9.37:g.34971580G>T	ENSP00000242315:p.Arg95Ser					KIAA1045_ENST00000544237.1_Missense_Mutation_p.R95S|KIAA1045_ENST00000476115.2_Intron	p.R95S	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		2	367	+			95					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.285G>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.510166	0.27036	.	.	ENSG00000122733	ENST00000544237;ENST00000242315	.	.	.	6.03	2.92	0.33932	.	0.366196	0.29046	N	0.013305	T	0.28134	0.0694	L	0.36672	1.1	0.21220	N	0.99976	B	0.19200	0.034	B	0.18561	0.022	T	0.13683	-1.0500	8	.	.	.	-9.928	6.5955	0.22669	0.2802:0.0:0.5903:0.1295	.	95	Q9UPV7	K1045_HUMAN	S	95	.	.	R	+	3	2	KIAA1045	34961580	0.710000	0.27896	0.619000	0.29118	0.132000	0.20833	-0.067000	0.11579	0.885000	0.36088	0.655000	0.94253	AGG		0.622	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	XM_048592		11	1758	1	0	3.09899e-07	0.047766	3.33418e-07	11	1758				
ZAN	7455	broad.mit.edu	37	7	100350592	100350592	+	RNA	SNP	T	T	C	rs112032841	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:100350592T>C	ENST00000348028.3	+	0	3029				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAGAAAAACTCACCATCCCC	0.512													N|||	10	0.00199681	0.0	0.0043	5008	,	,		19015	0.001		0.005	False		,,,				2504	0.001					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)							235.0	279.0	265.0					7																	100350592		1871	4095	5966			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350592T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350592T>C						ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	3012	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37			.	.	.	.	.	.	.	.	.	.	C	4.962	0.178753	0.09443	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.63417	-0.04;-0.04;-0.04	2.8	2.8	0.32819	.	0.841065	0.09711	N	0.765773	T	0.36468	0.0968	N	0.02960	-0.455	0.18873	N	0.999988	B;B	0.06786	0.001;0.0	B;B	0.11329	0.006;0.001	T	0.23868	-1.0176	10	0.34782	T	0.22	.	8.2876	0.31939	0.0:0.8748:0.0:0.1252	.	955;955	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	955	ENSP00000445943:L955P;ENSP00000445091:L955P;ENSP00000444427:L955P	ENSP00000423579:L955P	L	+	2	0	ZAN	100188528	0.000000	0.05858	0.004000	0.12327	0.001000	0.01503	0.000000	0.12993	0.748000	0.32831	-0.230000	0.12252	CTC		0.512	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		19	1026	0	0	0	0.091800	0	19	1026				
PCDHA13	56136	broad.mit.edu	37	5	140263026	140263026	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:140263026G>A	ENST00000289272.2	+	1	1173	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	391	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P391P(4)		NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGACGCCGCATGTCCCCT	0.547																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			4	Substitution - coding silent(4)	p.P391P(4)	haematopoietic_and_lymphoid_tissue(3)|lung(1)	NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1171-1173)ccG>ccA									144.0	139.0	140.0					5																	140263026		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140263026G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1173G>A	5.37:g.140263026G>A						PCDHA3_ENST00000522353.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.P391P|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron	p.P391P	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1173	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1173G>A	CCDS4240.1																																																																																				0.547	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		6	870	0	0	0	0.021553	0	6	870				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			7	416	1	0	1.58986e-06	0.069234	1.69539e-06	7	416				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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		57	291	0	0	0	0.139131	0	57	291				
TRBV5-4	28611	broad.mit.edu	37	7	142168862	142168862	+	RNA	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:142168862A>G	ENST00000454561.2	-	0	183									T cell receptor beta variable 5-4																		TGGGCCAGGCAGCACTGCACC	0.597																																						ENST00000454561.2																			0																				28.0	28.0	28.0					7																	142168862		1933	4131	6064			0							g.chr7:142168862A>G	L36092		7q34	2012-02-07			ENSG00000230099	ENSG00000230099		"""T cell receptors / TRB locus"""	12221	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV54, TCRBV5S4, TCRBV5S6A3N2T			OTTHUMG00000158524		7.37:g.142168862A>G														0	183	-									RNA	SNP	ENST00000454561.2	37																																																																																						0.597	TRBV5-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351230.2	NG_001333		4	130	0	0	0	0.069234	0	4	130				
MUC21	394263	broad.mit.edu	37	6	30955025	30955025	+	Missense_Mutation	SNP	G	G	A	rs55763085		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:30955025G>A	ENST00000376296.3	+	2	1314	c.1073G>A	c.(1072-1074)aGc>aAc	p.S358N	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	358	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S358N(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTGGGGCCAGCACAGCCACC	0.642																																						ENST00000376296.3																			1	Substitution - Missense(1)	p.S358N(1)	lung(1)	NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(1072-1074)aGc>aAc		mucin 21, cell surface associated							135.0	134.0	135.0					6																	30955025		2202	4298	6500	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30955025G>A	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.1073G>A	6.37:g.30955025G>A	ENSP00000365473:p.Ser358Asn					MUC21_ENST00000486149.2_5'UTR	p.S358N	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	1314	+			358			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.1073G>A	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	g	11.44	1.638585	0.29157	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.02863	4.13	4.44	1.37	0.22104	.	.	.	.	.	T	0.00724	0.0024	N	0.17082	0.46	0.09310	N	1	B	0.27498	0.18	B	0.29176	0.099	T	0.47509	-0.9112	9	0.36615	T	0.2	-6.2264	7.3385	0.26623	0.0985:0.4534:0.448:0.0	rs55763085	358	Q5SSG8	MUC21_HUMAN	N	208;358	ENSP00000365473:S358N	ENSP00000365473:S358N	S	+	2	0	MUC21	31063004	0.000000	0.05858	0.067000	0.19924	0.130000	0.20726	-0.612000	0.05616	0.590000	0.29694	-0.192000	0.12808	AGC		0.642	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		10	1278	0	0	0	0.119110	0	10	1278				
NBPF12	149013	broad.mit.edu	37	1	146397379	146397379	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:146397379C>G	ENST00000442909.2	+	6	1032	c.196C>G	c.(196-198)Ctc>Gtc	p.L66V	NBPF12_ENST00000309471.8_Intron|NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	0	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				ovary(2)	2						GTGTAAAGACCTCATAAAATT	0.527																																						ENST00000442909.2																			0				ovary(2)	2						c.(196-198)Ctc>Gtc		neuroblastoma breakpoint family, member 12																																				SO:0001583	missense	149013							g.chr1:146397379C>G	BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.196C>G	1.37:g.146397379C>G	ENSP00000391116:p.Leu66Val					NBPF12_ENST00000446760.2_Missense_Mutation_p.L66V|NBPF12_ENST00000309471.8_Intron	p.L66V							6	1032	+								O95877	Missense_Mutation	SNP	ENST00000442909.2	37	c.196C>G		.	.	.	.	.	.	.	.	.	.	N	8.973	0.973352	0.18736	.	.	ENSG00000186275	ENST00000446760;ENST00000442909	T;T	0.03689	3.84;3.88	1.11	-2.02	0.07388	.	.	.	.	.	T	0.01765	0.0056	L	0.61218	1.895	0.09310	N	1	.	.	.	.	.	.	T	0.41627	-0.9498	7	0.48119	T	0.1	.	2.1489	0.03795	0.408:0.3351:0.2568:0.0	.	.	.	.	V	66	ENSP00000396525:L66V;ENSP00000391116:L66V	ENSP00000391116:L66V	L	+	1	0	NBPF12	144766784	0.004000	0.15560	0.001000	0.08648	0.021000	0.10359	-0.017000	0.12590	-0.566000	0.06054	0.074000	0.15403	CTC		0.527	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		8	964	0	0	0	0.093190	0	8	964				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			6	343	0	0	0	0.047766	0	6	343				
SEPT14	346288	broad.mit.edu	37	7	55872990	55872990	+	Silent	SNP	G	G	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:55872990G>A	ENST00000388975.3	-	9	1196	c.1080C>T	c.(1078-1080)gtC>gtT	p.V360V		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	360					cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTTCTCCTTGACTCGCTGCA	0.343																																						ENST00000388975.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23						c.(1078-1080)gtC>gtT		septin 14							117.0	115.0	115.0					7																	55872990		2202	4297	6499	SO:0001819	synonymous_variant	346288				cell cycle|cell division	septin complex	GTP binding|protein binding	g.chr7:55872990G>A	AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.1080C>T	7.37:g.55872990G>A							p.V360V	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		9	1196	-	Breast(14;0.214)		360					A6NCC2|B4DXD6	Silent	SNP	ENST00000388975.3	37	c.1080C>T	CCDS5519.2																																																																																				0.343	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251489.2	NM_207366		6	201	0	0	0	0.029380	0	6	201				
FAM86C1	55199	broad.mit.edu	37	11	71507261	71507261	+	Intron	SNP	A	A	G	rs111708284	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:71507261A>G	ENST00000359244.4	+	4	434				FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	NM_018172.2	NP_060642.2	Q9NVL1	FA86C_HUMAN	family with sequence similarity 86, member C1											lung(1)	1						AGCTGTCCCTACAGGACTCCA	0.627													.|||	1255	0.250599	0.4395	0.1816	5008	,	,		19360	0.1895		0.2167	False		,,,				2504	0.1421					ENST00000528685.1																			0				lung(1)	1						c.(358-360)Aca>Gca		family with sequence similarity 86, member C1		G	,,	1465,2935		182,1101,917	56.0	66.0	62.0		,,	-2.4	0.0	11	dbSNP_132	62	1133,7453		27,1079,3187	no	intron,intron,intron	FAM86C1	NM_001099653.1,NM_018172.2,NM_152563.2	,,	209,2180,4104	GG,GA,AA		13.1959,33.2955,20.0062	,,	,,	71507261	2598,10388	2200	4293	6493	SO:0001627	intron_variant	55199							g.chr11:71507261A>G	AK130709	CCDS8202.1, CCDS41686.1, CCDS44664.1	11q13.4	2011-07-07	2011-07-07	2011-07-07	ENSG00000158483	ENSG00000158483			25561	protein-coding gene	gene with protein product			"""family with sequence similarity 86, member C"""	FAM86C		12477932	Standard	NM_152563		Approved	FLJ10661, FLJ27199	uc001oqv.4	Q9NVL1	OTTHUMG00000160552	ENST00000359244.4:c.411+49A>G	11.37:g.71507261A>G						FAM86C1_ENST00000359244.4_Intron|FAM86C1_ENST00000426628.2_Intron|FAM86C1_ENST00000346333.6_Intron	p.T120A			Q9NVL1	FA86C_HUMAN			3	358	+			0					Q8N5D3	Missense_Mutation	SNP	ENST00000359244.4	37	c.358A>G	CCDS41686.1	364	0.16666666666666666	154	0.3130081300813008	49	0.13535911602209943	72	0.1258741258741259	89	0.11741424802110818	.	5.025	0.190229	0.09547	0.332955	0.131959	ENSG00000158483	ENST00000528685	T	0.18502	2.21	1.18	-2.36	0.06663	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	.	.	.	.	.	.	T	0.43782	-0.9370	4	.	.	.	.	3.1938	0.06626	0.5083:0.0:0.3019:0.1898	.	.	.	.	A	120	ENSP00000436598:T120A	.	T	+	1	0	FAM86C1	71184909	.	.	0.000000	0.03702	0.012000	0.07955	.	.	-2.374000	0.00599	-1.160000	0.01791	ACA		0.627	FAM86C1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000361120.1	NM_152563		6	653	0	0	0	0.055883	0	6	653				
GOLGA3	2802	broad.mit.edu	37	12	133353241	133353241	+	Silent	SNP	T	T	C	rs541227756	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:133353241T>C	ENST00000450791.2	-	20	4140	c.3957A>G	c.(3955-3957)gaA>gaG	p.E1319E	GOLGA3_ENST00000204726.3_Silent_p.E1319E|GOLGA3_ENST00000456883.2_Silent_p.E1319E			Q08378	GOGA3_HUMAN	golgin A3	1319	Gln-rich.				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)		GCTGTAGCCCTTCCAGTTCCT	0.587													T|||	45	0.00898562	0.0212	0.0159	5008	,	,		20367	0.0		0.005	False		,,,				2504	0.001					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.(3955-3957)gaA>gaG		golgin A3							90.0	83.0	85.0					12																	133353241		2203	4300	6503	SO:0001819	synonymous_variant	2802				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity	g.chr12:133353241T>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.3957A>G	12.37:g.133353241T>C						GOLGA3_ENST00000456883.2_Silent_p.E1319E|GOLGA3_ENST00000450791.2_Silent_p.E1319E	p.E1319E	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)	21	4515	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)	1319			Gln-rich.		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Silent	SNP	ENST00000450791.2	37	c.3957A>G	CCDS9281.1																																																																																				0.587	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397569.2	NM_005895		7	435	0	0	0	0.069288	0	7	435				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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		14	244	0	0	0	0.132662	0	14	244				
FILIP1	27145	broad.mit.edu	37	6	76022448	76022448	+	Missense_Mutation	SNP	G	G	A	rs201283216		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:76022448G>A	ENST00000237172.7	-	5	3430	c.3100C>T	c.(3100-3102)Cgg>Tgg	p.R1034W	FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000393004.2_Missense_Mutation_p.R1034W|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	1034										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGATTGTCCGTCCCATGGGC	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		20359	0.001		0.0	False		,,,				2504	0.0					ENST00000393004.2																			0				breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(3100-3102)Cgg>Tgg		filamin A interacting protein 1		G	TRP/ARG	0,4406		0,0,2203	195.0	198.0	197.0		3100	4.9	1.0	6		197	2,8598	2.2+/-6.3	0,2,4298	yes	missense	FILIP1	NM_015687.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	1034/1214	76022448	2,13004	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76022448G>A	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.3100C>T	6.37:g.76022448G>A	ENSP00000237172:p.Arg1034Trp					FILIP1_ENST00000370020.1_Missense_Mutation_p.R935W|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R1034W	p.R1034W			Q7Z7B0	FLIP1_HUMAN			5	3321	-			1034					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.3100C>T	CCDS4984.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	18.48	3.632208	0.67015	0.0	2.33E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.21543	2.0;2.0;2.01	6.03	4.88	0.63580	.	0.090765	0.64402	D	0.000001	T	0.29458	0.0734	L	0.55481	1.735	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.987;0.994	T	0.07347	-1.0777	10	0.72032	D	0.01	-28.613	12.2258	0.54459	0.0:0.0:0.2831:0.7169	.	1034;1034;1034	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	W	1034;1034;935	ENSP00000376728:R1034W;ENSP00000237172:R1034W;ENSP00000359037:R935W	ENSP00000237172:R1034W	R	-	1	2	FILIP1	76079168	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	2.142000	0.42177	1.110000	0.41699	-0.262000	0.10625	CGG		0.468	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179		7	937	0	0	0	0.029380	0	7	937				
CAMTA1	23261	broad.mit.edu	37	1	7796575	7796575	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:7796575C>T	ENST00000303635.7	+	13	3445	c.3238C>T	c.(3238-3240)Cta>Tta	p.L1080L	CAMTA1_ENST00000439411.2_Silent_p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1080					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTATGCCACCCTAATCCAGAC	0.607			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7				Dom	yes		1	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1			M	WWTR1		epitheliod hemangioendothelioma		0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85						c.(3238-3240)Cta>Tta		calmodulin binding transcription activator 1							95.0	91.0	92.0					1																	7796575		2203	4300	6503	SO:0001819	synonymous_variant	23261				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	g.chr1:7796575C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3238C>T	1.37:g.7796575C>T						CAMTA1_ENST00000439411.2_Silent_p.L1080L	p.L1080L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)	13	3445	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	1080					A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Silent	SNP	ENST00000303635.7	37	c.3238C>T	CCDS30576.1																																																																																				0.607	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215		24	566	0	0	0	0.083992	0	24	566				
FIGN	55137	broad.mit.edu	37	2	164466495	164466495	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:164466495A>G	ENST00000333129.3	-	3	2161	c.1847T>C	c.(1846-1848)gTa>gCa	p.V616A	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	616					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGAAGTTAGTACAGTGTCCAG	0.423																																						ENST00000333129.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						c.(1846-1848)gTa>gCa		fidgetin							116.0	110.0	112.0					2																	164466495		1958	4157	6115	SO:0001583	missense	55137					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	g.chr2:164466495A>G	AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.1847T>C	2.37:g.164466495A>G	ENSP00000333836:p.Val616Ala					FIGN_ENST00000409634.1_Intron	p.V616A	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN			3	2161	-			616					B3KWM0|Q9H6M5|Q9NVZ9	Missense_Mutation	SNP	ENST00000333129.3	37	c.1847T>C	CCDS2221.2	.	.	.	.	.	.	.	.	.	.	A	4.122	0.020814	0.08006	.	.	ENSG00000182263	ENST00000333129	D	0.94897	-3.55	5.77	5.77	0.91146	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.062004	0.64402	D	0.000004	D	0.93324	0.7872	L	0.27975	0.815	0.58432	D	0.999999	P	0.41366	0.747	P	0.55161	0.77	D	0.90675	0.4601	10	0.08837	T	0.75	-17.6067	16.0953	0.81117	1.0:0.0:0.0:0.0	.	616	Q5HY92	FIGN_HUMAN	A	616	ENSP00000333836:V616A	ENSP00000333836:V616A	V	-	2	0	FIGN	164174741	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.116000	0.71571	2.204000	0.70986	0.383000	0.25322	GTA		0.423	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157220.2	NM_018086		13	481	0	0	0	0.160694	0	13	481				
KRTAP5-1	387264	broad.mit.edu	37	11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:1606166G>C	ENST00000382171.2	-	1	347	c.314C>G	c.(313-315)tCc>tGc	p.S105C	KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	105	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(313-315)tCc>tGc		keratin associated protein 5-1							35.0	50.0	45.0					11																	1606166		2143	4251	6394	SO:0001583	missense	387264					keratin filament		g.chr11:1606166G>C	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.314C>G	11.37:g.1606166G>C	ENSP00000371606:p.Ser105Cys					KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.S105C	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	347	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	105			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.314C>G	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	G	1.533	-0.543703	0.04053	.	.	ENSG00000205869	ENST00000382171	T	0.04603	3.59	3.68	-4.47	0.03525	.	.	.	.	.	T	0.03959	0.0111	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36187	-0.9758	9	0.72032	D	0.01	.	18.0282	0.89275	0.0:0.7506:0.2494:0.0	.	105	Q6L8H4	KRA51_HUMAN	C	105	ENSP00000371606:S105C	ENSP00000371606:S105C	S	-	2	0	KRTAP5-1	1562742	0.023000	0.18921	0.001000	0.08648	0.004000	0.04260	0.000000	0.12993	-0.646000	0.05452	-0.643000	0.03959	TCC		0.672	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		13	383	0	0	0	0.144211	0	13	383				
TPK1	27010	broad.mit.edu	37	7	144380019	144380019	+	Silent	SNP	G	G	T	rs370527936		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:144380019G>T	ENST00000360057.3	-	4	270	c.168C>A	c.(166-168)acC>acA	p.T56T	TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000538212.2_Missense_Mutation_p.P11Q|TPK1_ENST00000549981.1_5'UTR	NM_022445.3	NP_071890.2	Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	56					small molecule metabolic process (GO:0044281)|thiamine diphosphate biosynthetic process (GO:0009229)|thiamine metabolic process (GO:0006772)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|thiamine binding (GO:0030975)|thiamine diphosphokinase activity (GO:0004788)			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	TCTCTCCTTCGGTGATATCAT	0.388																																					Ovarian(45;88 1034 2073 5829 28455)	ENST00000538212.2																			0				large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19						c.(31-33)cCg>cAg		thiamin pyrophosphokinase 1	Thiamine(DB00152)						202.0	199.0	200.0					7																	144380019		2203	4300	6503	SO:0001819	synonymous_variant	27010				thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity	g.chr7:144380019G>T	AB028138	CCDS5888.1, CCDS55178.1	7q34-q35	2008-07-18			ENSG00000196511	ENSG00000196511			17358	protein-coding gene	gene with protein product	"""placental protein 20"", ""thiamine pyrophosphokinase 1"", ""thiamine kinase"", ""thiamine diphosphokinase"""	606370				11342111	Standard	NM_022445		Approved	HTPK1, PP20	uc003weq.3	Q9H3S4	OTTHUMG00000152774	ENST00000360057.3:c.168C>A	7.37:g.144380019G>T						TPK1_ENST00000549981.1_5'UTR|TPK1_ENST00000378099.3_Silent_p.T56T|TPK1_ENST00000360057.3_Silent_p.T56T	p.P11Q			Q9H3S4	TPK1_HUMAN			2	102	-			0					A8K0T7|D3DWG0|I6L9B8|Q6NUR5|Q9H602	Missense_Mutation	SNP	ENST00000360057.3	37	c.32C>A	CCDS5888.1	.	.	.	.	.	.	.	.	.	.	G	11.09	1.535538	0.27475	.	.	ENSG00000196511	ENST00000538212	T	0.76839	-1.05	6.02	-12.0	0.00017	.	.	.	.	.	T	0.55210	0.1906	.	.	.	0.39078	D	0.960843	B	0.13594	0.008	B	0.12156	0.007	T	0.42699	-0.9436	8	0.87932	D	0	-12.0501	0.591	0.00728	0.3264:0.1282:0.3282:0.2172	.	11	Q6ZQX6	.	Q	11	ENSP00000438813:P11Q	ENSP00000449909:P11Q	P	-	2	0	TPK1	144010952	0.001000	0.12720	0.186000	0.23195	0.976000	0.68499	-3.359000	0.00498	-2.266000	0.00687	-0.136000	0.14681	CCG		0.388	TPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327777.1	NM_022445		7	964	1	0	0.0293803	0.029380	0.0301305	7	964				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000413702.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		9	926	0	0	0	0.069234	0	9	926				
MFSD9	84804	broad.mit.edu	37	2	103335481	103335481	+	Missense_Mutation	SNP	G	G	A	rs144200432	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:103335481G>A	ENST00000258436.5	-	6	866	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	MFSD9_ENST00000496253.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	275					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						TTCATGTTCCGCAAGGCCAAC	0.557													G|||	5	0.000998403	0.0008	0.0	5008	,	,		20033	0.004		0.0	False		,,,				2504	0.0					ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(823-825)Cgg>Tgg		major facilitator superfamily domain containing 9							99.0	79.0	86.0					2																	103335481		2203	4300	6503	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103335481G>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.823C>T	2.37:g.103335481G>A	ENSP00000258436:p.Arg275Trp						p.R275W	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			6	866	-			275					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.823C>T	CCDS2063.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	13.25	2.181450	0.38511	.	.	ENSG00000135953	ENST00000258436	D	0.83250	-1.7	4.97	1.47	0.22746	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.665977	0.15409	N	0.263908	T	0.71745	0.3376	L	0.34521	1.04	0.09310	N	1	B	0.18013	0.025	B	0.17098	0.017	T	0.62062	-0.6933	10	0.52906	T	0.07	-5.4226	7.0595	0.25117	0.0938:0.0:0.3214:0.5847	.	275	Q8NBP5	MFSD9_HUMAN	W	275	ENSP00000258436:R275W	ENSP00000258436:R275W	R	-	1	2	MFSD9	102701913	0.437000	0.25593	0.068000	0.19968	0.045000	0.14185	1.372000	0.34261	0.571000	0.29365	0.644000	0.83932	CGG		0.557	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		7	432	0	0	0	0.029380	0	7	432				
ARID1A	8289	broad.mit.edu	37	1	27100182	27100184	+	In_Frame_Del	DEL	GCA	GCA	-	rs370696498|rs374564889		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:27100182_27100184delGCA	ENST00000324856.7	+	16	4349_4351	c.3978_3980delGCA	c.(3976-3981)ccgcag>ccg	p.Q1334del	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_In_Frame_Del_p.Q951del|ARID1A_ENST00000457599.2_In_Frame_Del_p.Q1334del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1334	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1327*(1)|p.Q1334delQ(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTACCCCCCgcagcagcagcag	0.591			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	2	Substitution - Nonsense(1)|Deletion - In frame(1)	p.Q1327*(1)|p.Q1334delQ(1)	large_intestine(1)|endometrium(1)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(3976-3981)ccg>cc		AT rich interactive domain 1A (SWI-like)																																				SO:0001651	inframe_deletion	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27100182_27100184delGCA	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3978_3980delGCA	1.37:g.27100191_27100193delGCA	ENSP00000320485:p.Gln1334del					ARID1A_ENST00000374152.2_In_Frame_Del_p.PQ943del|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_In_Frame_Del_p.PQ1326del	p.PQ1326del	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	16	4349_4351	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1326					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	In_Frame_Del	DEL	ENST00000324856.7	37	c.3978_3980delGCA	CCDS285.1																																																																																				0.591	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		29	644						29	644	---	---	---	---
HAX1	10456	broad.mit.edu	37	1	154246357	154246357	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:154246357delG	ENST00000328703.7	+	3	637	c.424delG	c.(424-426)gggfs	p.G143fs	HAX1_ENST00000483970.2_Frame_Shift_Del_p.G151fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.G95fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.G15fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	143	Involved in HCLS1 binding.				cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGGATCTTTGGGGGGGTCTT	0.552									Kostmann syndrome																													ENST00000328703.7																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(424-426)ggfs		HCLS1 associated protein X-1							91.0	97.0	95.0					1																	154246357		2203	4300	6503	SO:0001589	frameshift_variant	10456	Kostmann syndrome	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis		actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding	g.chr1:154246357delG	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.424delG	1.37:g.154246357delG	ENSP00000329002:p.Gly143fs					HAX1_ENST00000483970.2_Frame_Shift_Del_p.G151fs|HAX1_ENST00000457918.2_Frame_Shift_Del_p.G95fs|HAX1_ENST00000532105.1_Frame_Shift_Del_p.G15fs	p.G143fs	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	637	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		143			Involved in HCLS1 binding.		A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Frame_Shift_Del	DEL	ENST00000328703.7	37	c.424delG	CCDS1064.1																																																																																				0.552	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087650.1	NM_006118		7	916						7	916	---	---	---	---
OR10Z1	128368	broad.mit.edu	37	1	158576487	158576487	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:158576487delG	ENST00000361284.1	+	1	259	c.259delG	c.(259-261)gggfs	p.G88fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	88						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGGCCTGGCTGGGGGGGACCA	0.552																																						ENST00000361284.1																			0				endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37						c.(259-261)ggfs		olfactory receptor, family 10, subfamily Z, member 1							183.0	191.0	188.0					1																	158576487		2203	4300	6503	SO:0001589	frameshift_variant	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576487delG	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.259delG	1.37:g.158576487delG	ENSP00000354707:p.Gly88fs						p.G88fs	NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN			1	259	+	all_hematologic(112;0.0378)		88					Q5VYL0|Q6IFR7	Frame_Shift_Del	DEL	ENST00000361284.1	37	c.259delG	CCDS30901.1																																																																																				0.552	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1	NM_001004478		7	1254						7	1254	---	---	---	---
PCP4L1	654790	broad.mit.edu	37	1	161254154	161254156	+	In_Frame_Del	DEL	GGA	GGA	-	rs549268381		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:161254154_161254156delGGA	ENST00000504449.1	+	3	338_340	c.90_92delGGA	c.(88-93)gcggag>gcg	p.E35del		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	35								p.A30A(1)|p.E35delE(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCAAGAAGGCGGAGGAGGAGGAG	0.488																																						ENST00000504449.1																			2	Substitution - coding silent(1)|Deletion - In frame(1)	p.A30A(1)|p.E35delE(1)	large_intestine(1)|lung(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(88-93)gcg>gc		Purkinje cell protein 4 like 1																																				SO:0001651	inframe_deletion	654790							g.chr1:161254154_161254156delGGA	BC028905	CCDS53412.1	1q23.3	2006-02-27	2006-02-27		ENSG00000248485	ENSG00000248485			20448	protein-coding gene	gene with protein product			"""purkinje cell protein 4 like 1"""				Standard	NM_001102566		Approved	IQM1	uc001gad.3	A6NKN8	OTTHUMG00000034340	ENST00000504449.1:c.90_92delGGA	1.37:g.161254163_161254165delGGA	ENSP00000426296:p.Glu35del						p.AE30del	NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	338_340	+	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		30					B2RV24|B9EJG4	In_Frame_Del	DEL	ENST00000504449.1	37	c.90_92delGGA	CCDS53412.1																																																																																				0.488	PCP4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082986.2			11	596						11	596	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|LMX1A_ENST00000489443.2_5'UTR|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del|LMX1A_ENST00000489443.2_5'UTR	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		8	215						8	215	---	---	---	---
TNN	63923	broad.mit.edu	37	1	175086325	175086325	+	Silent	SNP	C	C	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:175086325C>T	ENST00000239462.4	+	10	2483	c.2370C>T	c.(2368-2370)gaC>gaT	p.D790D		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	790	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAAGGCTGACACCAAGGCCC	0.537																																						ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(2368-2370)gaC>gaT		tenascin N							85.0	85.0	85.0					1																	175086325		2203	4300	6503	SO:0001819	synonymous_variant	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175086325C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2370C>T	1.37:g.175086325C>T							p.D790D	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	10	2483	+		Breast(1374;0.000962)	790			Fibronectin type-III 6.		B9EGP3|Q5R360	Silent	SNP	ENST00000239462.4	37	c.2370C>T	CCDS30943.1																																																																																				0.537	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		19	479	0	0	0	0.043863	0	19	479				
PAPPA2	60676	broad.mit.edu	37	1	176525710	176525710	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:176525710delG	ENST00000367662.3	+	2	1416	c.252delG	c.(250-252)gtgfs	p.V84fs	PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.V84fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	84					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CCTACCCCGTGGGGGAGCAAG	0.567																																						ENST00000367662.3																			0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.(250-252)gtfs		pappalysin 2							129.0	121.0	124.0					1																	176525710		1958	4142	6100	SO:0001589	frameshift_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176525710delG	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.252delG	1.37:g.176525710delG	ENSP00000356634:p.Val84fs					PAPPA2_ENST00000367661.3_Frame_Shift_Del_p.V84fs	p.V84fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN			2	1416	+			84					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Frame_Shift_Del	DEL	ENST00000367662.3	37	c.252delG	CCDS41438.1																																																																																				0.567	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1			7	1302						7	1302	---	---	---	---
ACBD3	64746	broad.mit.edu	37	1	226352490	226352491	+	Splice_Site	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.568_569insA	c.(568-570)agg>aAgg	p.R190fs		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.e3+1		acyl-CoA binding domain containing 3																																				SO:0001630	splice_region_variant	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226352490_226352491insT	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.569+1->A	1.37:g.226352499_226352499dupT							p.E190_splice	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	3	622_623	-	Breast(184;0.158)		190			Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Splice_Site	INS	ENST00000366812.5	37	c.569_splice	CCDS1551.1																																																																																				0.411	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735	Frame_Shift_Ins	7	311						7	311	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26693554	26693556	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:26693554_26693556delCTT	ENST00000272371.2	-	32	4054_4056	c.3928_3930delAAG	c.(3928-3930)aagdel	p.K1310del	OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000402415.3_In_Frame_Del_p.K620del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1310	Poly-Lys.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCGCAGTGCCcttcttcttcttc	0.576																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(3928-3930)del		otoferlin			,,,	10,9,4247		0,0,10,0,9,2114					,,,	4.9	1.0			146	5,24,8225		0,0,5,0,24,4098	no	codingComplex,codingComplex,codingComplex,codingComplex	OTOF	NM_194323.2,NM_194322.2,NM_194248.2,NM_004802.3	,,,	0,0,15,0,33,6212	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3513,0.4454,0.3834	,,,	,,,		15,33,12472				SO:0001651	inframe_deletion	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26693554_26693556delCTT	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.3928_3930delAAG	2.37:g.26693563_26693565delCTT	ENSP00000272371:p.Lys1310del					OTOF_ENST00000402415.3_In_Frame_Del_p.K620del|OTOF_ENST00000339598.3_In_Frame_Del_p.K543del|OTOF_ENST00000338581.6_In_Frame_Del_p.K543del|OTOF_ENST00000403946.3_In_Frame_Del_p.K1310del	p.K1310del	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			32	4054_4056	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1310			Poly-Lys.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	In_Frame_Del	DEL	ENST00000272371.2	37	c.3928_3930delAAG	CCDS1725.1																																																																																				0.576	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			16	516						16	516	---	---	---	---
AFTPH	54812	broad.mit.edu	37	2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000409183.1_5'Flank|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409																																						ENST00000422803.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(64-66)del		aftiphilin																																				SO:0001651	inframe_deletion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64778672_64778674delGAT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	ENST00000422803.1:c.64_66delGAT	2.37:g.64778681_64778683delGAT	ENSP00000397726:p.Asp26del					AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del	p.D26del			Q6ULP2	AFTIN_HUMAN			2	378_380	+			26					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Del	DEL	ENST00000422803.1	37	c.64_66delGAT																																																																																					0.409	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		NM_017657		7	658						7	658	---	---	---	---
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:96919781_96919783delTGC	ENST00000258439.3	-	4	736_738	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.Q160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.Q76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation (GO:0008285)|negative regulation of TOR signaling (GO:0032007)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557																																						ENST00000258439.2																			0				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						c.(478-483)cat>ca		transmembrane protein 127																																				SO:0001651	inframe_deletion	55654				negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane		g.chr2:96919781_96919783delTGC	AK000514	CCDS2018.1	2q11.2	2014-09-17			ENSG00000135956	ENSG00000135956			26038	protein-coding gene	gene with protein product		613403				10493829	Standard	NM_017849		Approved	FLJ20507, FLJ22257	uc002svr.3	O75204	OTTHUMG00000130454	ENST00000258439.3:c.480_482delGCA	2.37:g.96919790_96919792delTGC	ENSP00000258439:p.Gln160del					TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN			4	736_738	-			160					D3DXH0	In_Frame_Del	DEL	ENST00000258439.3	37	c.480_482delGCA	CCDS2018.1																																																																																				0.557	TMEM127-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252845.3	NM_017849		17	669						17	669	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109087883	109087884	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:109087883_109087884insA	ENST00000309863.6	+	6	2812_2813	c.2098_2099insA	c.(2098-2100)gaafs	p.E700fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	700					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACTCAGTTCAGAAAAAAAACAG	0.307																																						ENST00000309863.6																			0				breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(2098-2100)aaafs		GRIP and coiled-coil domain containing 2																																				SO:0001589	frameshift_variant	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109087883_109087884insA	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2106dupA	2.37:g.109087891_109087891dupA	ENSP00000307939:p.Glu700fs						p.K700fs	NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN			6	2812_2813	+			700					A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Frame_Shift_Ins	INS	ENST00000309863.6	37	c.2098_2099insA	CCDS33268.1																																																																																				0.307	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		11	1285						11	1285	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				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)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""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.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1.0			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	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.chr2:128046944_128046946delTCT	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.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		7	262						7	262	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187521085	187521085	+	Frame_Shift_Del	DEL	G	G	-	rs567294324		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr2:187521085delG	ENST00000261023.3	+	17	1950	c.1676delG	c.(1675-1677)aggfs	p.R559fs	ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	ACTATTTCAAGGGGGGGACTG	0.428																																					Melanoma(58;108 1995 6081)	ENST00000261023.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(1675-1677)agfs		integrin, alpha V							249.0	235.0	239.0					2																	187521085		2203	4300	6503	SO:0001589	frameshift_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187521085delG		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.1676delG	2.37:g.187521085delG	ENSP00000261023:p.Arg559fs					ITGAV_ENST00000433736.2_Frame_Shift_Del_p.R513fs|ITGAV_ENST00000374907.3_Frame_Shift_Del_p.R523fs|AC017101.10_ENST00000453665.1_RNA	p.R559fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	17	1950	+			559					A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Frame_Shift_Del	DEL	ENST00000261023.3	37	c.1676delG	CCDS2292.1																																																																																				0.428	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2	NM_002210		8	996						8	996	---	---	---	---
EMC3	55831	broad.mit.edu	37	3	10049093	10049094	+	lincRNA	INS	-	-	G	rs371761226|rs377547959		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:10049093_10049094insG	ENST00000383808.2	-	0	904_905				AC034193.5_ENST00000326237.3_RNA																							GGGTCAGTGGCGGGGTGTGGTC	0.589																																						ENST00000383808.2																			0																																																			0							g.chr3:10049093_10049094insG																													3.37:g.10049097_10049097dupG														0	904_905	-									RNA	INS	ENST00000383808.2	37																																																																																						0.589	AC022007.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000339469.1			11	360						11	360	---	---	---	---
NUP210	23225	broad.mit.edu	37	3	13438890	13438890	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:13438890delG	ENST00000254508.5	-	3	485	c.403delC	c.(403-405)ctgfs	p.L135fs		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	135					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTCAGCTCCAGGGGGGAGTCC	0.602																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(403-405)tgfs		nucleoporin 210kDa							70.0	64.0	66.0					3																	13438890		2203	4300	6503	SO:0001589	frameshift_variant	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13438890delG	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.403delC	3.37:g.13438890delG	ENSP00000254508:p.Leu135fs						p.L135fs	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			3	485	-	all_neural(104;0.187)		135					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Frame_Shift_Del	DEL	ENST00000254508.5	37	c.403delC	CCDS33704.1																																																																																				0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		7	409						7	409	---	---	---	---
NKTR	4820	broad.mit.edu	37	3	42679764	42679764	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:42679764delA	ENST00000232978.8	+	13	2756	c.2568delA	c.(2566-2568)tcafs	p.S856fs	RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	856					protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GCCCTCATTCAAAAAAAAGAA	0.373																																						ENST00000232978.8																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41						c.(2566-2568)tcfs		natural killer-tumor recognition sequence							44.0	49.0	47.0					3																	42679764		2191	4295	6486	SO:0001589	frameshift_variant	4820				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr3:42679764delA		CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.2568delA	3.37:g.42679764delA	ENSP00000232978:p.Ser856fs					RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	p.S856fs	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.24)	13	2756	+			856						Frame_Shift_Del	DEL	ENST00000232978.8	37	c.2568delA	CCDS2702.1																																																																																				0.373	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256642.2	NM_005385		7	411						7	411	---	---	---	---
PRSS50	29122	broad.mit.edu	37	3	46759228	46759229	+	In_Frame_Ins	INS	-	-	AGC	rs371656552|rs143449678		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:46759228_46759229insAGC	ENST00000460241.1	-	6	1756_1757	c.86_87insGCT	c.(85-87)ctt>ctGCTt	p.29_29L>LL	PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29L>LL			Q9UI38	TSP50_HUMAN	protease, serine, 50	29					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.L32_R33insL(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCAGCAACAGAAGCAGCAGCAG	0.728																																					Pancreas(41;915 1239 11561 17469)	ENST00000460241.1																			1	Insertion - In frame(1)	p.L32_R33insL(1)	upper_aerodigestive_tract(1)	endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(85-87)cct>cGCTct		protease, serine, 50																																				SO:0001652	inframe_insertion	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759228_46759229insAGC	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.84_86dupGCT	3.37:g.46759235_46759237dupAGC	ENSP00000418875:p.Leu32dup					PRSS50_ENST00000315170.7_In_Frame_Ins_p.29_29P>RS	p.29_29P>RS			Q9UI38	TSP50_HUMAN			6	1756_1757	-			29						In_Frame_Ins	INS	ENST00000460241.1	37	c.86_87insGCT	CCDS2745.1																																																																																				0.728	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			28	37						28	37	---	---	---	---
CELSR3	1951	broad.mit.edu	37	3	48685385	48685385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:48685385delC	ENST00000164024.4	-	20	7298	c.7018delG	c.(7018-7020)gccfs	p.A2340fs	CELSR3_ENST00000544264.1_Frame_Shift_Del_p.A2345fs	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2340					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAGCGACGGGCCCCCCGGGGA	0.632																																						ENST00000544264.1																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(7033-7035)ccfs		cadherin, EGF LAG seven-pass G-type receptor 3							103.0	114.0	110.0					3																	48685385		2203	4299	6502	SO:0001589	frameshift_variant	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48685385delC	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7018delG	3.37:g.48685385delC	ENSP00000164024:p.Ala2340fs					CELSR3_ENST00000164024.4_Frame_Shift_Del_p.A2340fs	p.A2345fs			Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	21	7313	-			2340					O75092	Frame_Shift_Del	DEL	ENST00000164024.4	37	c.7033delG	CCDS2775.1																																																																																				0.632	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407		7	1161						7	1161	---	---	---	---
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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					LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR|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		9	1461						9	1461	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108229398	108229398	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:108229398delA	ENST00000273353.3	-	2	96	c.40delT	c.(40-42)tggfs	p.W15fs		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	15						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						GCAATCCACCAAAAAAAGGCC	0.418																																						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.(40-42)ggfs		myosin, heavy chain 15							82.0	79.0	80.0					3																	108229398		1856	4090	5946	SO:0001589	frameshift_variant	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108229398delA	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.40delT	3.37:g.108229398delA	ENSP00000273353:p.Trp15fs						p.W15fs	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			2	96	-			15			Myosin head-like.			Frame_Shift_Del	DEL	ENST00000273353.3	37	c.40delT	CCDS43127.1																																																																																				0.418	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		9	315						9	315	---	---	---	---
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)aagfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|LRR domain binding (GO:0030275)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522																																						ENST00000389709.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17						c.(2185-2187)agfs		ZXD family zinc finger C							288.0	315.0	306.0					3																	126178522		2005	4167	6172	SO:0001589	frameshift_variant	79364				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:126178522delT	AK023923	CCDS43145.1, CCDS43146.1	3q21.3	2014-02-12			ENSG00000070476	ENSG00000070476		"""Zinc fingers, C2H2-type"""	28160	protein-coding gene	gene with protein product		615746				8619474, 9110174	Standard	XM_005247757		Approved	MGC11349, FLJ13861	uc003eiv.3	Q2QGD7	OTTHUMG00000162754	ENST00000389709.3:c.2186delA	3.37:g.126178522delT	ENSP00000374359:p.Lys729fs						p.K729fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	7	2239	-			729					C5J0H9|Q6DKI8|Q7L3L1|Q8NAU2	Frame_Shift_Del	DEL	ENST00000389709.3	37	c.2186delA	CCDS43145.1																																																																																				0.522	ZXDC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370327.2	NM_025112		10	2427						10	2427	---	---	---	---
H1FOO	132243	broad.mit.edu	37	3	129268107	129268108	+	Frame_Shift_Ins	INS	-	-	A	rs150160917		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:129268107_129268108insA	ENST00000324382.2	+	3	647_648	c.642_643insA	c.(643-645)aggfs	p.R215fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.R76fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	215					meiotic nuclear division (GO:0007126)|negative regulation of stem cell differentiation (GO:2000737)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of DNA methylation (GO:0044030)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|female germ cell nucleus (GO:0001674)|nucleosome (GO:0000786)|nucleus (GO:0005634)	nucleosomal DNA binding (GO:0031492)			endometrium(1)|lung(4)|skin(1)	6						CGGGAGAGGCTAGGAAGGTGCC	0.653																																						ENST00000324382.2																			0				endometrium(1)|lung(4)|skin(1)	6						c.(640-645)gcggaafs		H1 histone family, member O, oocyte-specific																																				SO:0001589	frameshift_variant	132243				meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding	g.chr3:129268107_129268108insA	AY158091	CCDS3064.1	3q21.3	2011-01-27			ENSG00000178804	ENSG00000178804		"""Histones / Replication-independent"""	18463	protein-coding gene	gene with protein product						12408966	Standard	NM_153833		Approved		uc003emu.3	Q8IZA3	OTTHUMG00000159541	ENST00000324382.2:c.643dupA	3.37:g.129268108_129268108dupA	ENSP00000319799:p.Arg215fs					H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.E76fs	p.E215fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN			3	647_648	+			215					Q86WT7	Frame_Shift_Ins	INS	ENST00000324382.2	37	c.642_643insA	CCDS3064.1																																																																																				0.653	H1FOO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356100.3	NM_153833		8	69						8	69	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		9	447						9	447	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906329	164906331	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:164906329_164906331delCCT	ENST00000475390.1	-	2	2731_2733	c.2288_2290delAGG	c.(2287-2292)gaggtg>gtg	p.E763del	SLITRK3_ENST00000241274.3_In_Frame_Del_p.E763del			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	763					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GAAACAGCCACCTCCTCCTCCTC	0.581										HNSCC(40;0.11)																												ENST00000475390.1																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						c.(2287-2292)gtg>g		SLIT and NTRK-like family, member 3																																				SO:0001651	inframe_deletion	22865					integral to membrane		g.chr3:164906329_164906331delCCT	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2288_2290delAGG	3.37:g.164906338_164906340delCCT	ENSP00000420091:p.Glu763del	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_In_Frame_Del_p.EV763del	p.EV763del			O94933	SLIK3_HUMAN			2	2731_2733	-			763					Q1RMY6	In_Frame_Del	DEL	ENST00000475390.1	37	c.2288_2290delAGG	CCDS3197.1																																																																																				0.581	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	569						7	569	---	---	---	---
EIF4G1	1981	broad.mit.edu	37	3	184039744	184039746	+	In_Frame_Del	DEL	GAA	GAA	-	rs530167757	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr3:184039744_184039746delGAA	ENST00000346169.2	+	10	1643_1645	c.1372_1374delGAA	c.(1372-1374)gaadel	p.E465del	EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del|EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000342981.4_In_Frame_Del_p.E465del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	465	Poly-Glu.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAGGAAATGgaagaagaagaag	0.562																																						ENST00000342981.4																			0				central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75						c.(1372-1374)del		eukaryotic translation initiation factor 4 gamma, 1																																				SO:0001651	inframe_deletion	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039744_184039746delGAA	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1372_1374delGAA	3.37:g.184039753_184039755delGAA	ENSP00000316879:p.Glu465del					EIF4G1_ENST00000392537.2_In_Frame_Del_p.E378del|EIF4G1_ENST00000346169.2_In_Frame_Del_p.E465del|EIF4G1_ENST00000435046.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000427845.1_In_Frame_Del_p.E378del|EIF4G1_ENST00000424196.1_In_Frame_Del_p.E472del|EIF4G1_ENST00000434061.2_In_Frame_Del_p.E269del|EIF4G1_ENST00000352767.3_In_Frame_Del_p.E472del|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000414031.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000382330.3_In_Frame_Del_p.E472del|EIF4G1_ENST00000411531.1_In_Frame_Del_p.E425del|EIF4G1_ENST00000319274.6_In_Frame_Del_p.E465del|EIF4G1_ENST00000350481.5_In_Frame_Del_p.E301del|EIF4G1_ENST00000441154.1_In_Frame_Del_p.E301del	p.E465del	NM_182917.4	NP_886553.3	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		9	1786_1788	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		465			Poly-Glu.		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	In_Frame_Del	DEL	ENST00000346169.2	37	c.1372_1374delGAA	CCDS3259.1																																																																																				0.562	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		7	493						7	493	---	---	---	---
HGFAC	3083	broad.mit.edu	37	4	3443798	3443800	+	In_Frame_Del	DEL	CTG	CTG	-	rs372137428		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:3443798_3443800delCTG	ENST00000382774.3	+	1	185_187	c.70_72delCTG	c.(70-72)ctgdel	p.L29del	HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	29					proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTCCTCCTCCTGCTGCTGCTGC	0.714																																						ENST00000382774.3																			0				central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						c.(70-72)del		HGF activator				1,155,2800		0,0,1,8,139,1330						2.2	1.0			15	2,247,5979		0,0,2,8,231,2873	no	codingComplex	HGFAC	NM_001528.2		0,0,3,16,370,4203	A1A1,A1A2,A1R,A2A2,A2R,RR		3.9981,5.2774,4.4098				3,402,8779				SO:0001651	inframe_deletion	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3443798_3443800delCTG	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.70_72delCTG	4.37:g.3443807_3443809delCTG	ENSP00000372224:p.Leu29del					HGFAC_ENST00000511533.1_In_Frame_Del_p.L29del	p.L29del	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	1	185_187	+			29					Q14726|Q2M1W7|Q53X47	In_Frame_Del	DEL	ENST00000382774.3	37	c.70_72delCTG	CCDS3369.1																																																																																				0.714	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			8	262						8	262	---	---	---	---
KLF3	51274	broad.mit.edu	37	4	38691476	38691476	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:38691476delC	ENST00000261438.5	+	4	976	c.671delC	c.(670-672)tccfs	p.S224fs	KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	224	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|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)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AACTCAGTGTCCCCCCCGCAA	0.423																																						ENST00000261438.5																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(670-672)tcfs		Kruppel-like factor 3 (basic)							137.0	129.0	132.0					4																	38691476		2203	4300	6503	SO:0001589	frameshift_variant	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38691476delC	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.671delC	4.37:g.38691476delC	ENSP00000261438:p.Ser224fs					KLF3_ENST00000514033.1_Frame_Shift_Del_p.S224fs	p.S224fs	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN			4	976	+			224			Pro-rich.		Q6PIR1|Q86TN0|Q9P2X6	Frame_Shift_Del	DEL	ENST00000261438.5	37	c.671delC	CCDS3444.1																																																																																				0.423	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			7	785						7	785	---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39310612	39310612	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:39310612delT	ENST00000381897.1	-	13	1662	c.1529delA	c.(1528-1530)aatfs	p.N510fs	RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	510					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCTTGGACATTTTTTTGGGG	0.353																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1528-1530)atfs		replication factor C (activator 1) 1, 145kDa							62.0	66.0	65.0					4																	39310612		2203	4298	6501	SO:0001589	frameshift_variant	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39310612delT	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1529delA	4.37:g.39310612delT	ENSP00000371321:p.Asn510fs					RFC1_ENST00000349703.2_Frame_Shift_Del_p.N510fs	p.N510fs	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			13	1662	-			510					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Frame_Shift_Del	DEL	ENST00000381897.1	37	c.1529delA	CCDS56329.1																																																																																				0.353	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		7	426						7	426	---	---	---	---
RPL9	6133	broad.mit.edu	37	4	39462464	39462464	+	5'Flank	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:39462464delA	ENST00000449470.2	-	0	0				LIAS_ENST00000513731.1_Frame_Shift_Del_p.K36fs|RPL9_ENST00000295955.9_5'Flank|LIAS_ENST00000515061.1_3'UTR|LIAS_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_Frame_Shift_Del_p.K36fs|LIAS_ENST00000261434.3_Frame_Shift_Del_p.K36fs	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_ENST00000340169.2_Frame_Shift_Del_p.K36fs|LIAS_ENST00000381846.1_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			7	805						7	805	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060358	46060358	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:46060358delA	ENST00000295452.4	-	7	959	c.792delT	c.(790-792)tttfs	p.F264fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	264					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.F264fs*3(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TGCTCAGGTCAAAAAAAATTG	0.294																																						ENST00000295452.4																			1	Deletion - Frameshift(1)	p.F264fs*3(1)	large_intestine(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(790-792)ttfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							94.0	97.0	96.0					4																	46060358		2203	4300	6503	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060358delA	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.792delT	4.37:g.46060358delA	ENSP00000295452:p.Phe264fs						p.F264fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	7	959	-			264					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.792delT	CCDS3470.1																																																																																				0.294	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		8	342						8	342	---	---	---	---
SEC31A	22872	broad.mit.edu	37	4	83785565	83785565	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:83785565delT	ENST00000395310.2	-	11	1566	c.1384delA	c.(1384-1386)attfs	p.I462fs	SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000432794.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	462	Interaction with SEC13.				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)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)	p.I462fs*16(2)	SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAGCATCAATTTTTTTTTGG	0.353																																						ENST00000432794.1																		SEC31A/ALK(3)|SEC31A/JAK2(4)	2	Deletion - Frameshift(2)	p.I462fs*16(2)	lung(2)	breast(1)	1						c.(1384-1386)ttfs		SEC31 homolog A (S. cerevisiae)							89.0	91.0	91.0					4																	83785565		2203	4300	6503	SO:0001589	frameshift_variant	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83785565delT	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1384delA	4.37:g.83785565delT	ENSP00000378721:p.Ile462fs					SEC31A_ENST00000508479.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000508502.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000448323.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000348405.4_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505472.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000326950.5_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000509142.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000500777.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000355196.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000505984.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000264405.5_Frame_Shift_Del_p.I234fs|SEC31A_ENST00000395310.2_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000513858.1_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000311785.7_Frame_Shift_Del_p.I462fs|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000443462.2_Frame_Shift_Del_p.I457fs	p.I462fs			O94979	SC31A_HUMAN			11	1547	-		Hepatocellular(203;0.114)	462			Interaction with SEC13.		B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Frame_Shift_Del	DEL	ENST00000395310.2	37	c.1384delA	CCDS3596.1																																																																																				0.353	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211		10	325						10	325	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119745872	119745873	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:119745872_119745873insG	ENST00000280551.6	-	3	388_389	c.150_151insC	c.(148-153)gccaccfs	p.T51fs	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Frame_Shift_Ins_p.T51fs			O94855	SC24D_HUMAN	SEC24 family member D	51	Pro-rich.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CTAGTGGCGGTGGCCCCCAAAG	0.54																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(148-153)gcccgcfs		SEC24 family member D																																				SO:0001589	frameshift_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119745872_119745873insG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.151dupC	4.37:g.119745874_119745874dupG	ENSP00000280551:p.Thr51fs					SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.R51fs	p.R51fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			3	421_422	-			51			Pro-rich.		Q8IYI7	Frame_Shift_Ins	INS	ENST00000280551.6	37	c.150_151insC	CCDS3710.1																																																																																				0.540	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			10	726						10	726	---	---	---	---
NAA15	80155	broad.mit.edu	37	4	140258043	140258043	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140258043delA	ENST00000296543.5	+	3	504	c.181delA	c.(181-183)aaafs	p.K62fs	NAA15_ENST00000398947.1_Frame_Shift_Del_p.K62fs|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	62					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGTTTGGGGAAAAAGGAAGA	0.299																																						ENST00000296543.5																			0				NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(181-183)aafs		N(alpha)-acetyltransferase 15, NatA auxiliary subunit							138.0	128.0	131.0					4																	140258043		1884	4163	6047	SO:0001589	frameshift_variant	80155				angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	g.chr4:140258043delA	AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.181delA	4.37:g.140258043delA	ENSP00000296543:p.Lys62fs					NAA15_ENST00000398947.1_Frame_Shift_Del_p.K62fs|NAA15_ENST00000480277.2_3'UTR	p.K62fs	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN			3	504	+			62					D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Frame_Shift_Del	DEL	ENST00000296543.5	37	c.181delA	CCDS43270.1																																																																																				0.299	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000267839.2	NM_057175		8	692						8	692	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000398940.1_Splice_Site_p.A37del|MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000398940.1_Splice_Site_p.37_splice|MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			39	400						39	400	---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54579209	54579210	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:54579209_54579210insC	ENST00000251636.5	-	11	1934_1935	c.1786_1787insG	c.(1786-1788)gaafs	p.E596fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	596	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ACTCCCTGTTTCACCTGCCACA	0.396																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(1786-1788)aacfs		DEAH (Asp-Glu-Ala-His) box polypeptide 29																																				SO:0001589	frameshift_variant	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54579209_54579210insC	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1787dupG	5.37:g.54579210_54579210dupC	ENSP00000251636:p.Glu596fs					RP11-506H20.1_ENST00000506435.1_RNA	p.N596fs	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			11	1934_1935	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	596			Helicase ATP-binding.		O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Frame_Shift_Ins	INS	ENST00000251636.5	37	c.1786_1787insG	CCDS34158.1																																																																																				0.396	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		9	652						9	652	---	---	---	---
THBS4	7060	broad.mit.edu	37	5	79372774	79372776	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:79372774_79372776delTGA	ENST00000350881.2	+	16	2179_2181	c.1989_1991delTGA	c.(1987-1992)tgtgat>tgt	p.D668del	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_In_Frame_Del_p.D577del|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	668					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GTGACGAGTGTGATGATGATGAT	0.562																																						ENST00000350881.2																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34						c.(1987-1992)tgt>tg		thrombospondin 4																																				SO:0001651	inframe_deletion	7060				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity	g.chr5:79372774_79372776delTGA		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1989_1991delTGA	5.37:g.79372783_79372785delTGA	ENSP00000339730:p.Asp668del					THBS4_ENST00000511733.1_In_Frame_Del_p.CD572del|CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA	p.CD663del	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)	16	2179_2181	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	663					B2R909|Q86TG2	In_Frame_Del	DEL	ENST00000350881.2	37	c.1989_1991delTGA	CCDS4049.1																																																																																				0.562	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1			8	1480						8	1480	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118525523	118525524	+	Frame_Shift_Ins	INS	-	-	G	rs17144964|rs376776822	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:118525523_118525524insG	ENST00000311085.8	+	29	7336_7337	c.7256_7257insG	c.(7255-7260)gcggttfs	p.V2420fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2420fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2420										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAGTCACTGGCGGTTAAAGAAA	0.421																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7255-7257)ggtfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118525523_118525524insG	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7258dupG	5.37:g.118525525_118525525dupG	ENSP00000309690:p.Val2420fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.G2419fs	p.G2419fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7336_7337	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2419						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.7256_7257insG	CCDS4125.1																																																																																				0.421	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		10	762						10	762	---	---	---	---
CSNK1G3	1456	broad.mit.edu	37	5	122881495	122881495	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:122881495delA	ENST00000361991.2	+	1	168	c.138delA	c.(136-138)ggafs	p.G46fs	CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000395412.1_Frame_Shift_Del_p.G46fs			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	46	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTAGAGTTGGAAAAAAAATTG	0.363																																					Pancreas(187;2868 2964 4353 6297)	ENST00000395412.1																			0				autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15						c.(136-138)ggfs		casein kinase 1, gamma 3							102.0	101.0	101.0					5																	122881495		2203	4300	6503	SO:0001589	frameshift_variant	1456				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr5:122881495delA	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.138delA	5.37:g.122881495delA	ENSP00000354942:p.Gly46fs					CSNK1G3_ENST00000510842.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000361991.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000521364.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000395411.1_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000360683.2_Frame_Shift_Del_p.G46fs|CSNK1G3_ENST00000345990.4_Frame_Shift_Del_p.G46fs	p.G46fs	NM_001044723.1	NP_001038188.1	Q9Y6M4	KC1G3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)	2	857	+		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	46			Protein kinase.		A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Frame_Shift_Del	DEL	ENST00000361991.2	37	c.138delA	CCDS4135.1																																																																																				0.363	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250900.1	NM_004384		9	550						9	550	---	---	---	---
CDKL3	51265	broad.mit.edu	37	5	133634348	133634349	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:133634348_133634349insA	ENST00000265334.4	-	13	1890_1891	c.1772_1773insT	c.(1771-1773)ttcfs	p.F591fs	CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000523054.1_3'UTR|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000609383.1_Intron	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	591					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACACTACCAGAAAAAAAACCT	0.356																																						ENST00000265334.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11						c.(1771-1773)ttgfs		cyclin-dependent kinase-like 3																																				SO:0001589	frameshift_variant	51265					cytoplasm	ATP binding|cyclin-dependent protein kinase activity	g.chr5:133634348_133634349insA	AF130372	CCDS47264.1, CCDS47265.1, CCDS75303.1	5q31.1	2014-09-09			ENSG00000006837	ENSG00000006837	2.7.11.22	"""Cyclin-dependent kinases"""	15483	protein-coding gene	gene with protein product	"""serine-threonine protein kinase NKIAMRE"""	608459				10463609	Standard	NM_016508		Approved	NKIAMRE	uc003kzf.4	Q8IVW4	OTTHUMG00000186341	ENST00000265334.4:c.1773dupT	5.37:g.133634356_133634356dupA	ENSP00000265334:p.Phe591fs					CDKL3_ENST00000523054.1_3'UTR|CDKL3_ENST00000518409.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000536186.1_Intron	p.L591fs	NM_001113575.1	NP_001107047.1	Q8IVW4	CDKL3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	1890_1891	-			591					D3DQA0|D3DQA1|Q9P114	Frame_Shift_Ins	INS	ENST00000265334.4	37	c.1772_1773insT	CCDS47264.1																																																																																				0.356	CDKL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377697.1	NM_001113575		7	698						7	698	---	---	---	---
SH3TC2	79628	broad.mit.edu	37	5	148389864	148389865	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:148389864_148389865insG	ENST00000515425.1	-	14	3396_3397	c.3295_3296insC	c.(3295-3297)cgcfs	p.R1099fs	SH3TC2_ENST00000538184.1_Frame_Shift_Ins_p.R646fs|SH3TC2_ENST00000512049.1_Frame_Shift_Ins_p.R1092fs|SH3TC2_ENST00000502274.1_5'Flank	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1099					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCTGTGGCGGGTCCCATTG	0.55																																						ENST00000538184.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(1936-1938)ccafs		SH3 domain and tetratricopeptide repeats 2																																				SO:0001589	frameshift_variant	79628						binding	g.chr5:148389864_148389865insG	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.3296dupC	5.37:g.148389867_148389867dupG	ENSP00000423660:p.Arg1099fs					SH3TC2_ENST00000515425.1_Frame_Shift_Ins_p.P1099fs|SH3TC2_ENST00000512049.1_Frame_Shift_Ins_p.P1092fs	p.P646fs			Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	2824_2825	-			1099					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Frame_Shift_Ins	INS	ENST00000515425.1	37	c.1936_1937insC	CCDS4293.1																																																																																				0.550	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		7	398						7	398	---	---	---	---
DCTN4	51164	broad.mit.edu	37	5	150121709	150121710	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:150121709_150121710insC	ENST00000447998.2	-	4	510_511	c.395_396insG	c.(394-396)ggtfs	p.G132fs	DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000424236.1_Frame_Shift_Ins_p.G75fs|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.G132fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	132					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|nucleus (GO:0005634)	protein N-terminus binding (GO:0047485)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTCCTGCCAACCGCCACTAGC	0.337																																						ENST00000447998.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10						c.(394-396)gtgfs		dynactin 4 (p62)																																				SO:0001589	frameshift_variant	51164					centrosome|nucleus	protein N-terminus binding	g.chr5:150121709_150121710insC	AF195120	CCDS4310.1, CCDS47310.1, CCDS47311.1	5q31-q32	2008-05-23			ENSG00000132912	ENSG00000132912			15518	protein-coding gene	gene with protein product		614758				10843801, 16554302	Standard	NM_016221		Approved		uc010jhi.3	Q9UJW0	OTTHUMG00000130079	ENST00000447998.2:c.396dupG	5.37:g.150121711_150121711dupC	ENSP00000416968:p.Gly132fs					DCTN4_ENST00000521093.1_Intron|DCTN4_ENST00000446090.2_Frame_Shift_Ins_p.V132fs|DCTN4_ENST00000424236.1_Frame_Shift_Ins_p.V75fs	p.V132fs	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	510_511	-		Medulloblastoma(196;0.167)	132					B3KWW0|D3DQH0|E5RGT5|Q8TAN8	Frame_Shift_Ins	INS	ENST00000447998.2	37	c.395_396insG	CCDS4310.1																																																																																				0.337	DCTN4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252372.1			10	975						10	975	---	---	---	---
BTNL8	79908	broad.mit.edu	37	5	180374632	180374633	+	Intron	DEL	GA	GA	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr5:180374632_180374633delGA	ENST00000340184.4	+	4	993				BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000231229.4_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8						immune system process (GO:0002376)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGTAAGCGAGAGAGAGAAG	0.495																																						ENST00000231229.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28						c.(793-795)cfs		butyrophilin-like 8																																				SO:0001627	intron_variant	79908					integral to membrane		g.chr5:180374632_180374633delGA	AK025111	CCDS4459.1, CCDS43413.1, CCDS54956.1, CCDS54957.1, CCDS54958.1, CCDS54959.1	5q35.3	2014-01-14			ENSG00000113303	ENSG00000113303		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	26131	protein-coding gene	gene with protein product		615606				12975309	Standard	NM_024850		Approved	FLJ21458, BTN9.2	uc003mmp.3	Q6UX41	OTTHUMG00000130932	ENST00000340184.4:c.787+7GA>-	5.37:g.180374640_180374641delGA						BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000505126.1_Intron|BTNL8_ENST00000508408.1_Frame_Shift_Del_p.R265fs|BTNL8_ENST00000340184.4_Intron|BTNL8_ENST00000533815.2_Intron|BTNL8_ENST00000400707.3_Intron	p.R265fs	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	1028_1029	+	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	265					A4QMZ8|A6NEX6|B7Z409|B7Z5B1|E9PEF6|E9PG07|F2Z2B2|F8W712|Q9H730	Frame_Shift_Del	DEL	ENST00000340184.4	37	c.794_795delGA	CCDS43413.1																																																																																				0.495	BTNL8-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368440.1	NM_024850		8	1464						8	1464	---	---	---	---
JARID2	3720	broad.mit.edu	37	6	15501164	15501164	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:15501164delT	ENST00000341776.2	+	8	2216	c.1972delT	c.(1972-1974)tttfs	p.F659fs	JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs|JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	659	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCTGGCCTGCTTTTTCCGGCT	0.517																																						ENST00000341776.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59						c.(1972-1974)ttfs		jumonji, AT rich interactive domain 2							108.0	114.0	112.0					6																	15501164		2203	4300	6503	SO:0001589	frameshift_variant	3720				central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding	g.chr6:15501164delT	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.1972delT	6.37:g.15501164delT	ENSP00000341280:p.Phe659fs					JARID2_ENST00000397311.3_Frame_Shift_Del_p.F487fs|JARID2_ENST00000541660.1_Frame_Shift_Del_p.F621fs	p.F659fs	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN			8	2216	+	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)	659			ARID.		A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Frame_Shift_Del	DEL	ENST00000341776.2	37	c.1972delT	CCDS4533.1																																																																																				0.517	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973		8	1009						8	1009	---	---	---	---
HIST1H1A	3024	broad.mit.edu	37	6	26017448	26017448	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:26017448delT	ENST00000244573.3	-	1	592	c.513delA	c.(511-513)aaafs	p.K171fs		NM_005325.3	NP_005316.1	Q02539	H11_HUMAN	histone cluster 1, H1a	171					nucleosome assembly (GO:0006334)|spermatogenesis (GO:0007283)	nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						CAGTTTTGGGTTTTTTTGGAT	0.483																																						ENST00000244573.3																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|ovary(3)|prostate(1)	13						c.(511-513)aafs		histone cluster 1, H1a							172.0	184.0	180.0					6																	26017448		2203	4300	6503	SO:0001589	frameshift_variant	3024				nucleosome assembly|spermatogenesis	nucleosome|nucleus	DNA binding	g.chr6:26017448delT	AF531299	CCDS4569.1	6p22.1	2012-11-16	2006-10-11	2003-02-21	ENSG00000124610	ENSG00000124610		"""Histones / Replication-dependent"""	4715	protein-coding gene	gene with protein product		142709	"""H1 histone family, member 1"", ""histone 1, H1a"""	H1F1		2759094, 12408966	Standard	NM_005325		Approved	H1.1, H1a	uc003nfo.3	Q02539	OTTHUMG00000016413	ENST00000244573.3:c.513delA	6.37:g.26017448delT	ENSP00000244573:p.Lys171fs						p.K171fs	NM_005325.3	NP_005316.1	Q02539	H11_HUMAN			1	592	-			171					Q3MJ34	Frame_Shift_Del	DEL	ENST00000244573.3	37	c.513delA	CCDS4569.1																																																																																				0.483	HIST1H1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043884.1	NM_005325		7	984						7	984	---	---	---	---
GABBR1	2550	broad.mit.edu	37	6	29573436	29573438	+	In_Frame_Del	DEL	CAG	CAG	-	rs368201041		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:29573436_29573438delCAG	ENST00000377034.4	-	20	2682_2684	c.2347_2349delCTG	c.(2347-2349)ctgdel	p.L783del	GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000376977.3_3'UTR	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	783					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	G-protein coupled GABA receptor activity (GO:0004965)	p.L783M(1)		endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)|Vigabatrin(DB01080)	GGAAGATTCCCAGCAGCAGCAGC	0.512																																						ENST00000377034.4																			1	Substitution - Missense(1)	p.L783M(1)	kidney(1)	endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(2347-2349)del		gamma-aminobutyric acid (GABA) B receptor, 1	Baclofen(DB00181)|Progabide(DB00837)																																			SO:0001651	inframe_deletion	0				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr6:29573436_29573438delCAG	Y11044	CCDS4663.1, CCDS4664.1, CCDS4665.1	6p21.3	2012-08-29			ENSG00000204681	ENSG00000204681		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4070	protein-coding gene	gene with protein product	"""GABA-B receptor"""	603540				9753614, 9798068	Standard	NM_001470		Approved	hGB1a, GPRC3A	uc003nmt.4	Q9UBS5	OTTHUMG00000031095	ENST00000377034.4:c.2347_2349delCTG	6.37:g.29573445_29573447delCAG	ENSP00000366233:p.Leu783del					GABBR1_ENST00000377016.4_In_Frame_Del_p.L721del|GABBR1_ENST00000377012.4_In_Frame_Del_p.L666del|GABBR1_ENST00000376977.3_3'UTR|GABBR1_ENST00000355973.3_In_Frame_Del_p.L666del	p.L783del	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN			20	2682_2684	-			783					B0UXY7|O95375|O95468|O95975|O96022|Q5STL4|Q5SUJ8|Q5SUL3|Q71SG6|Q86W60|Q9UQQ0	In_Frame_Del	DEL	ENST00000377034.4	37	c.2347_2349delCTG	CCDS4663.1																																																																																				0.512	GABBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076141.3			7	415						7	415	---	---	---	---
HLA-V	352962	broad.mit.edu	37	6	29760353	29760373	+	RNA	DEL	GCGGGCGCCGTGGATGGAGCA	GCGGGCGCCGTGGATGGAGCA	-	rs60681449|rs2905755|rs140982245	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	ENST00000457107.1	+	0	223_243									major histocompatibility complex, class I, V (pseudogene)																		GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG	0.674																																						ENST00000457107.1																			0																																																			0							g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA	M96332		6p21.3	2012-10-05	2007-12-12	2007-12-12	ENSG00000181126	ENSG00000181126		"""Histocompatibility complex"""	23482	pseudogene	pseudogene			"""HLA-75 pseudogene"""	HLA-75			Standard	NG_002729		Approved	dJ377H14.4			OTTHUMG00000031277		6.37:g.29760353_29760373delGCGGGCGCCGTGGATGGAGCA														0	223_243	+									RNA	DEL	ENST00000457107.1	37																																																																																						0.674	HLA-V-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000105231.1	NG_002729		13	39						13	39	---	---	---	---
DDX39B	7919	broad.mit.edu	37	6	31504445	31504446	+	Frame_Shift_Ins	INS	-	-	A	rs75750725		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:31504445_31504446insA	ENST00000396172.1	-	5	1077_1078	c.447_448insT	c.(445-450)tttggtfs	p.G150fs	DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.G72fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000417556.2_Frame_Shift_Ins_p.G165fs|DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.G150fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.G103fs|SNORD117_ENST00000364915.1_RNA|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.G150fs	NM_004640.6	NP_004631.1	Q13838	DX39B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|RNA secondary structure unwinding (GO:0010501)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|transcription export complex (GO:0000346)	ATP binding (GO:0005524)|ATP-dependent protein binding (GO:0043008)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)|RNA-dependent ATPase activity (GO:0008186)|U4 snRNA binding (GO:0030621)|U6 snRNA binding (GO:0017070)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						GACAGACCACCAAAAAAAACAG	0.51																																						ENST00000417556.2																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(490-495)ttgtggfs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B																																				SO:0001589	frameshift_variant	7919				intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding	g.chr6:31504445_31504446insA	Z37166	CCDS4697.1	6p21.33	2011-02-09	2011-02-08	2011-02-08	ENSG00000198563	ENSG00000198563		"""DEAD-boxes"""	13917	protein-coding gene	gene with protein product	"""U2AF65-associated protein 56"""	142560	"""HLA-B associated transcript 1"""	BAT1		7601445, 2813433	Standard	NM_004640		Approved	D6S81E, UAP56	uc003ntu.3	Q13838	OTTHUMG00000031165	ENST00000396172.1:c.448dupT	6.37:g.31504453_31504453dupA	ENSP00000379475:p.Gly150fs					DDX39B_ENST00000458640.1_Frame_Shift_Ins_p.LW149fs|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR|DDX39B_ENST00000376177.2_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000396172.1_Frame_Shift_Ins_p.LW149fs|DDX39B_ENST00000453105.2_Frame_Shift_Ins_p.LW102fs|DDX39B_ENST00000449074.2_3'UTR|DDX39B_ENST00000415382.2_Frame_Shift_Ins_p.LW71fs	p.LW164fs			Q13838	DX39B_HUMAN			6	1122_1123	-			149			Helicase ATP-binding.		B0S8C0|O43496|Q0EFA1|Q2L6F9|Q53GL9|Q5RJ64|Q5RJ66|Q5ST94|Q5STB4|Q5STB5|Q5STB7|Q5STB8|Q5STU4|Q5STU5|Q5STU6|Q5STU8|Q71V76	Frame_Shift_Ins	INS	ENST00000396172.1	37	c.492_493insT	CCDS4697.1																																																																																				0.510	DDX39B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259083.1	NM_004640		11	376						11	376	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000337523.5_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000375356.3_5'Flank	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000337523.5_5'UTR|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			27	835						27	835	---	---	---	---
FKBPL	63943	broad.mit.edu	37	6	32097086	32097086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:32097086delC	ENST00000375156.3	-	2	742	c.472delG	c.(472-474)gagfs	p.E158fs	ATF6B_ENST00000375203.3_5'Flank|ATF6B_ENST00000468502.1_5'Flank|ATF6B_ENST00000375201.4_5'Flank	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)|response to radiation (GO:0009314)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)										TCTATGAGCTCCCCCCAAGTT	0.587																																						ENST00000375156.3																			0											c.(472-474)agfs		FK506 binding protein like							186.0	197.0	194.0					6																	32097086		2203	4300	6503	SO:0001589	frameshift_variant	63943				response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	g.chr6:32097086delC	AF139374	CCDS4738.1	6p21.3	2013-12-13	2001-11-28		ENSG00000204315	ENSG00000204315		"""Tetratricopeptide (TTC) repeat domain containing"""	13949	protein-coding gene	gene with protein product	"""WAF-1/CIP1 stabilizing protein 39"""		"""FK506-binding protein like"""			9056895	Standard	NM_022110		Approved	DIR1, NG7, WISp39	uc003nzr.3	Q9UIM3	OTTHUMG00000031129	ENST00000375156.3:c.472delG	6.37:g.32097086delC	ENSP00000364298:p.Glu158fs						p.E158fs	NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN			2	742	-			158					A8K5V3|B0UYX8|Q9H5G3	Frame_Shift_Del	DEL	ENST00000375156.3	37	c.472delG	CCDS4738.1																																																																																				0.587	FKBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076221.2			10	1958						10	1958	---	---	---	---
HLA-DRB1	3123	broad.mit.edu	37	6	32557568	32557569	+	De_novo_Start_OutOfFrame	INS	-	-	AT	rs17204758	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:32557568_32557569insAT	ENST00000360004.5	-	0	56_57					NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						GCAAGTCTCACTCAGGGAGAAC	0.54										Multiple Myeloma(14;0.17)																												ENST00000360004.5																			0				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10								major histocompatibility complex, class II, DR beta 1																																						3123							g.chr6:32557568_32557569insAT	AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.-50->AT	6.37:g.32557568_32557569insAT		Multiple Myeloma(14;0.17)						NM_002124.3	NP_002115.2					0	56_57	-								P01914|Q9MYF5	Translation_Start_Site	INS	ENST00000360004.5	37		CCDS47409.1																																																																																				0.540	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076393.3	NM_002124		8	90						8	90	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		8	232						8	232	---	---	---	---
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctctgc>ctc	p.C143del				Q99750	MDFI_HUMAN	MyoD family inhibitor	204					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(412-417)ctc>ct		MyoD family inhibitor																																				SO:0001651	inframe_deletion	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621169_41621171delCTG	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.414_416delCTG	6.37:g.41621178_41621180delCTG	ENSP00000362141:p.Cys143del						p.LC138del			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	601_603	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		199						In_Frame_Del	DEL	ENST00000373050.4	37	c.414_416delCTG																																																																																					0.655	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		11	651						11	651	---	---	---	---
AARS2	57505	broad.mit.edu	37	6	44269188	44269189	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:44269188_44269189insT	ENST00000244571.4	-	20	2613_2614	c.2611_2612insA	c.(2611-2613)actfs	p.T871fs	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|AARS2_ENST00000491573.1_5'Flank	NM_020745.3	NP_065796			alanyl-tRNA synthetase 2, mitochondrial											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGCTCCTGAGTTTTCTTTGCA	0.584																																						ENST00000244571.4																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34						c.(2611-2613)tcafs		alanyl-tRNA synthetase 2, mitochondrial	L-Alanine(DB00160)																																			SO:0001589	frameshift_variant	57505				alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding	g.chr6:44269188_44269189insT	AB033096	CCDS34464.1	6p21.1	2012-10-26	2012-10-26	2007-02-23	ENSG00000124608	ENSG00000124608	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	21022	protein-coding gene	gene with protein product	"""alanine tRNA ligase 2, mitochondrial"""	612035	"""alanyl-tRNA synthetase like"", ""alanyl-tRNA synthetase 2, mitochondrial (putative)"""	AARSL		15779907, 21549344	Standard	NM_020745		Approved	KIAA1270, bA444E17.1	uc010jza.1	Q5JTZ9	OTTHUMG00000014766	ENST00000244571.4:c.2612dupA	6.37:g.44269192_44269192dupT	ENSP00000244571:p.Thr871fs					TMEM151B_ENST00000438774.2_Intron	p.S871fs	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		20	2613_2614	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		871						Frame_Shift_Ins	INS	ENST00000244571.4	37	c.2611_2612insA	CCDS34464.1																																																																																				0.584	AARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040741.2	NM_020745		7	834						7	834	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45390446	45390448	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:45390446_45390448delCAG	ENST00000371438.1	+	2	533_535	c.175_177delCAG	c.(175-177)cagdel	p.Q71del	RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000465038.2_In_Frame_Del_p.Q71del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RP1-244F24.1_ENST00000606796.1_RNA	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_ENST00000371432.3_In_Frame_Del_p.Q57del|RUNX2_ENST00000352853.5_In_Frame_Del_p.Q139del|RUNX2_ENST00000371436.6_In_Frame_Del_p.Q71del|RUNX2_ENST00000576263.1_In_Frame_Del_p.Q71del|RUNX2_ENST00000359524.5_In_Frame_Del_p.Q57del|RUNX2_ENST00000541979.1_In_Frame_Del_p.Q139del|RUNX2_ENST00000465038.2_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		13	295						13	295	---	---	---	---
TRAM2	9697	broad.mit.edu	37	6	52370505	52370506	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:52370505_52370506insG	ENST00000182527.3	-	9	765_766	c.766_767insC	c.(766-768)cgcfs	p.R256fs	EFHC1_ENST00000433625.2_Intron	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN	translocation associated membrane protein 2	256	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				collagen biosynthetic process (GO:0032964)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)		p.R256L(1)		endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					GATGAAGAGGCGGGTAACCCCA	0.535																																						ENST00000182527.3																			1	Substitution - Missense(1)	p.R256L(1)	lung(1)	endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13						c.(766-768)cctfs		translocation associated membrane protein 2																																				SO:0001589	frameshift_variant	9697				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding	g.chr6:52370505_52370506insG	D31762	CCDS34477.1	6p21.1-p12	2008-02-05			ENSG00000065308	ENSG00000065308			16855	protein-coding gene	gene with protein product		608485				7584044, 10594243	Standard	NM_012288		Approved	KIAA0057	uc003paq.3	Q15035	OTTHUMG00000014850	ENST00000182527.3:c.767dupC	6.37:g.52370508_52370508dupG	ENSP00000182527:p.Arg256fs					EFHC1_ENST00000433625.2_Intron	p.P256fs	NM_012288.3	NP_036420.1	Q15035	TRAM2_HUMAN			9	765_766	-	Lung NSC(77;0.109)		256			TLC.		A8K6T6	Frame_Shift_Ins	INS	ENST00000182527.3	37	c.766_767insC	CCDS34477.1																																																																																				0.535	TRAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040910.1	NM_012288		9	484						9	484	---	---	---	---
HCRTR2	3062	broad.mit.edu	37	6	55039411	55039411	+	Frame_Shift_Del	DEL	C	C	-	rs76774128		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:55039411delC	ENST00000370862.3	+	1	362	c.26delC	c.(25-27)tccfs	p.S9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTGGAGGACTCCCCCCCTTGT	0.567																																						ENST00000370862.3																			1	Deletion - Frameshift(1)	p.P11fs*11(1)	upper_aerodigestive_tract(1)	breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(25-27)tcfs		hypocretin (orexin) receptor 2							101.0	96.0	98.0					6																	55039411		2203	4300	6503	SO:0001589	frameshift_variant	3062				feeding behavior	integral to plasma membrane	neuropeptide receptor activity	g.chr6:55039411delC	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.26delC	6.37:g.55039411delC	ENSP00000359899:p.Ser9fs						p.S9fs	NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.23)		1	362	+	Lung NSC(77;0.107)|Renal(3;0.122)		9					Q5VTM0	Frame_Shift_Del	DEL	ENST00000370862.3	37	c.26delC	CCDS4956.1																																																																																				0.567	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1			9	820						9	820	---	---	---	---
SYNCRIP	10492	broad.mit.edu	37	6	86332353	86332354	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:86332353_86332354insT	ENST00000369622.3	-	8	1354_1355	c.854_855insA	c.(853-855)aacfs	p.N285fs	SYNCRIP_ENST00000355238.6_Frame_Shift_Ins_p.N285fs	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	285	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		AAAAGCCTCTGTTTTTTTTCTT	0.411																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(853-855)aagfs		synaptotagmin binding, cytoplasmic RNA interacting protein																																				SO:0001589	frameshift_variant	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86332353_86332354insT	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.855dupA	6.37:g.86332361_86332361dupT	ENSP00000358635:p.Asn285fs					SYNCRIP_ENST00000369622.3_Frame_Shift_Ins_p.K285fs	p.K285fs	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	8	1060_1061	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	285			RRM 2.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Frame_Shift_Ins	INS	ENST00000369622.3	37	c.854_855insA	CCDS5005.1																																																																																				0.411	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		8	715						8	715	---	---	---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						ENST00000369329.3																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28						c.(31-36)tcg>tc		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr6:91296568_91296570delGAG	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_ENST00000369325.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369327.3_In_Frame_Del_p.SS13del|MAP3K7_ENST00000369332.3_In_Frame_Del_p.SS13del	p.SS13del	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	194_196	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	13			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1	NM_145331		7	170						7	170	---	---	---	---
NCOA7	135112	broad.mit.edu	37	6	126176317	126176317	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:126176317delA	ENST00000368357.3	+	4	554	c.202delA	c.(202-204)aaafs	p.K70fs	NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs|NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000487635.1_3'UTR	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	70					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		GACTGATGAGAAAAAAAAGAG	0.358																																						ENST00000368357.3																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39						c.(202-204)aafs		nuclear receptor coactivator 7							143.0	158.0	153.0					6																	126176317		2203	4300	6503	SO:0001589	frameshift_variant	135112				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:126176317delA	AJ420542	CCDS5132.1, CCDS56448.1	6q22.33	2013-03-14			ENSG00000111912	ENSG00000111912			21081	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 4"""	609752				11971969	Standard	NM_001199619		Approved	ERAP140, dJ187J11.3, TLDC4	uc003qai.3	Q8NI08	OTTHUMG00000015513	ENST00000368357.3:c.202delA	6.37:g.126176317delA	ENSP00000357341:p.Lys70fs					NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.K70fs|NCOA7_ENST00000487635.1_3'UTR	p.K70fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)	4	554	+			70					B2RNS2|B7Z2C4|B9EH71|G8JL91|Q3LID6|Q4G0V1|Q5TF95|Q6IPQ4|Q6NE83|Q86T89|Q8N1W4	Frame_Shift_Del	DEL	ENST00000368357.3	37	c.202delA	CCDS5132.1																																																																																				0.358	NCOA7-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042083.4	XM_059748		8	1157						8	1157	---	---	---	---
ARHGAP18	93663	broad.mit.edu	37	6	129959602	129959603	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:129959602_129959603insT	ENST00000368149.2	-	3	576_577	c.488_489insA	c.(487-489)aacfs	p.N163fs		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGTACTGTTTGTTTTTTTTCCT	0.421																																						ENST00000368149.2																			0				NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18						c.(487-489)aaafs		Rho GTPase activating protein 18																																				SO:0001589	frameshift_variant	93663				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr6:129959602_129959603insT	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.489dupA	6.37:g.129959610_129959610dupT	ENSP00000357131:p.Asn163fs						p.K163fs	NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)	3	576_577	-			163						Frame_Shift_Ins	INS	ENST00000368149.2	37	c.488_489insA	CCDS34535.1																																																																																				0.421	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042185.2	NM_033515		20	937						20	937	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	144782471	144782471	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:144782471delA	ENST00000367545.3	+	21	2846	c.2846delA	c.(2845-2847)gaafs	p.E949fs		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	949					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCCCTGCAAGAAAAAAAGGTA	0.348																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(2845-2847)gafs		utrophin							120.0	129.0	126.0					6																	144782471		2203	4300	6503	SO:0001589	frameshift_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:144782471delA	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.2846delA	6.37:g.144782471delA	ENSP00000356515:p.Glu949fs						p.E949fs	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	21	2846	+		Ovarian(120;0.218)	949					Q5SYY1|Q5SZ57|Q9UJ40	Frame_Shift_Del	DEL	ENST00000367545.3	37	c.2846delA	CCDS34547.1																																																																																				0.348	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			7	913						7	913	---	---	---	---
AGPAT4	56895	broad.mit.edu	37	6	161560589	161560589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr6:161560589delG	ENST00000320285.4	-	8	1119	c.907delC	c.(907-909)cggfs	p.R304fs	AGPAT4_ENST00000366911.5_3'UTR|AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	304					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.R303fs*7(2)|p.R303fs*60(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CAGGGCCGCCGGGGGGGCACC	0.627																																						ENST00000320285.4																			3	Deletion - Frameshift(2)|Insertion - Frameshift(1)	p.R303fs*7(2)|p.R303fs*60(1)	large_intestine(2)|ovary(1)	endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(907-909)ggfs		1-acylglycerol-3-phosphate O-acyltransferase 4							60.0	70.0	66.0					6																	161560589		2203	4300	6503	SO:0001589	frameshift_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161560589delG	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.907delC	6.37:g.161560589delG	ENSP00000314036:p.Arg304fs					AGPAT4_ENST00000457520.2_Frame_Shift_Del_p.R142fs|AGPAT4_ENST00000366911.5_3'UTR	p.R304fs	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	8	1119	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	304					B4DSF9|Q5TEF0	Frame_Shift_Del	DEL	ENST00000320285.4	37	c.907delC	CCDS5280.1																																																																																				0.627	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		8	614						8	614	---	---	---	---
ZDHHC4	55146	broad.mit.edu	37	7	6621848	6621849	+	Frame_Shift_Ins	INS	-	-	T	rs34551853		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:6621848_6621849insT	ENST00000396706.2	+	5	779_780	c.336_337insT	c.(337-339)tttfs	p.F113fs	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000405731.3_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000335965.6_Frame_Shift_Ins_p.F113fs|ZDHHC4_ENST00000396713.2_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_ENST00000396707.2_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_ENST00000396713.2_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		9	888						9	888	---	---	---	---
PHF14	9678	broad.mit.edu	37	7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagagfs	p.E524fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.E239fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	524					lung alveolus development (GO:0048286)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376																																						ENST00000403050.3																			0				NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35						c.(1567-1572)caagfs		PHD finger protein 14																																				SO:0001589	frameshift_variant	9678						zinc ion binding	g.chr7:11075380_11075381delAG	AB018326	CCDS47542.1	7p21.3	2013-01-28			ENSG00000106443	ENSG00000106443		"""Zinc fingers, PHD-type"""	22203	protein-coding gene	gene with protein product						9872452	Standard	NM_014660		Approved	KIAA0783	uc003sry.2	O94880	OTTHUMG00000150463	ENST00000403050.3:c.1569_1570delAG	7.37:g.11075388_11075389delAG	ENSP00000385795:p.Glu524fs					PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	p.QE523fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.205)	8	2021_2022	+			523					A7MCZ3|B4DI82	Frame_Shift_Del	DEL	ENST00000403050.3	37	c.1569_1570delAG	CCDS47542.1																																																																																				0.376	PHF14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000318212.1	NM_014660		7	1130						7	1130	---	---	---	---
TRGC1	6966	broad.mit.edu	37	7	38301855	38301856	+	RNA	DEL	GT	GT	-	rs531015144|rs539372318	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:38301855_38301856delGT	ENST00000443402.2	-	0	330					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TCAATTGTTCGTGTGTGTGTGT	0.356														5	0.000998403	0.0023	0.0	5008	,	,		19637	0.002		0.0	False		,,,				2504	0.0					ENST00000443402.2																			0																,	19,1,3534		0,0,19,0,1,1757					,	-0.1	0.0			199	9,6,7813		1,0,7,0,6,3900	no	intron,intron	TARP	NM_001003806.1,NM_001003799.1	,	1,0,26,0,7,5657	A1A1,A1A2,A1R,A2A2,A2R,RR		0.1916,0.5627,0.3075	,	,		28,7,11347						0							g.chr7:38301855_38301856delGT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38301865_38301866delGT								NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1					0	330	-									RNA	DEL	ENST00000443402.2	37																																																																																						0.356	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336		9	593						9	593	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		7	149						7	149	---	---	---	---
INHBA	3624	broad.mit.edu	37	7	41729741	41729743	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:41729741_41729743delTTC	ENST00000242208.4	-	3	1032_1034	c.786_788delGAA	c.(784-789)aagaaa>aaa	p.262_263KK>K	INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_In_Frame_Del_p.262_263KK>K|AC005027.3_ENST00000416150.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	262					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ctcctcttctttcttcttcttct	0.581										TSP Lung(11;0.080)																												ENST00000242208.4																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(784-789)aaa>aa		inhibin, beta A																																				SO:0001651	inframe_deletion	3624				cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	g.chr7:41729741_41729743delTTC		CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.786_788delGAA	7.37:g.41729750_41729752delTTC	ENSP00000242208:p.Lys263del	TSP Lung(11;0.080)				INHBA_ENST00000442711.1_In_Frame_Del_p.KK262del|AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR	p.KK262del	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN			3	1032_1034	-			262					Q14599	In_Frame_Del	DEL	ENST00000242208.4	37	c.786_788delGAA	CCDS5464.1																																																																																				0.581	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250793.1			8	249						8	249	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			7	66						7	66	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64532452	64532452	+	RNA	DEL	T	T	-	rs545307202|rs397890951	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:64532452delT	ENST00000426828.1	+	0	1228				SNORA15_ENST00000384334.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		atgcccagccttttttttttt	0.408													|||unknown(HR)	2890	0.577077	0.5333	0.7089	5008	,	,		11284	0.4891		0.6193	False		,,,				2504	0.59					ENST00000426828.1																			0																																																			0							g.chr7:64532452delT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64532452delT								NR_033416.1						0	1228	+									RNA	DEL	ENST00000426828.1	37																																																																																						0.408	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			8	13						8	13	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150713	65150714	+	RNA	INS	-	-	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:65150713_65150714insA	ENST00000430126.2	+	0	694_695							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		CATACCATGAGAAAATCTCTAA	0.436																																						ENST00000430126.2																			0																																																			0							g.chr7:65150713_65150714insA	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150717_65150717dupA														0	694_695	+									RNA	INS	ENST00000430126.2	37																																																																																						0.436	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		7	349						7	349	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C	rs376935907		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCTTCATCCCTCACCCCCCCCC	0.46																																						ENST00000430126.2																			0																																																			0							g.chr7:65150814_65150815insC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150815_65150815dupC														0	757	+									RNA	INS	ENST00000430126.2	37																																																																																						0.460	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		8	125						8	125	---	---	---	---
INTS4L2	644619	broad.mit.edu	37	7	65150817	65150817	+	RNA	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:65150817delC	ENST00000430126.2	+	0	757							Q2T9F4	IN4L2_HUMAN	integrator complex subunit 4-like 2																		TCATCCCTCACCCCCCCCCCC	0.468																																						ENST00000430126.2																			0																																																			0							g.chr7:65150817delC	BC111554		7q11.21	2013-03-26			ENSG00000232270	ENSG00000273024			22351	other	unknown							Standard	NR_027392		Approved	MGC133166	uc003tue.2	Q2T9F4	OTTHUMG00000156558		7.37:g.65150817delC														0	757	+									RNA	DEL	ENST00000430126.2	37																																																																																						0.468	INTS4L2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345545.2	NR_027392		13	107						13	107	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100283635	100283637	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:100283635_100283637delTCC	ENST00000275732.5	-	9	2223_2225	c.1014_1016delGGA	c.(1012-1017)gaggaa>gaa	p.338_339EE>E	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	338	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)					central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCGGAAGGTTCCTCCTCCTCCT	0.675																																						ENST00000275732.5																			0				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1012-1017)gaa>ga		GRB10 interacting GYF protein 1																																				SO:0001651	inframe_deletion	64599							g.chr7:100283635_100283637delTCC	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.1014_1016delGGA	7.37:g.100283644_100283646delTCC	ENSP00000275732:p.Glu339del					GIGYF1_ENST00000471340.2_Intron	p.EE338del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			9	2223_2225	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		338			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.1014_1016delGGA	CCDS34708.1																																																																																				0.675	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		10	378						10	378	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		11	328						11	328	---	---	---	---
ZNF800	168850	broad.mit.edu	37	7	127014205	127014205	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr7:127014205delT	ENST00000393313.1	-	5	1776	c.1185delA	c.(1183-1185)aaafs	p.K395fs	ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K395fs|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K395fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	395					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(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TATTAGGGCCTTTTTCTCTTT	0.358																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(1183-1185)aafs		zinc finger protein 800							94.0	102.0	99.0					7																	127014205		2202	4297	6499	SO:0001589	frameshift_variant	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014205delT	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.1185delA	7.37:g.127014205delT	ENSP00000376989:p.Lys395fs					ZNF800_ENST00000265827.3_Frame_Shift_Del_p.K395fs|ZNF800_ENST00000393312.1_Frame_Shift_Del_p.K395fs	p.K395fs			Q2TB10	ZN800_HUMAN			5	1776	-			395					Q9HBN0	Frame_Shift_Del	DEL	ENST00000393313.1	37	c.1185delA	CCDS5795.1																																																																																				0.358	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		7	493						7	493	---	---	---	---
MCPH1	79648	broad.mit.edu	37	8	6289099	6289099	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:6289099delA	ENST00000344683.5	+	4	389	c.313delA	c.(313-315)aaafs	p.K107fs	MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	107					cerebral cortex development (GO:0021987)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)	identical protein binding (GO:0042802)		AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		AAGCCTAATTAAAAAAAAAGT	0.274																																					Colon(95;1448 1467 8277 34473 35819)	ENST00000344683.5																		AGPAT5/MCPH1(2)	0				central_nervous_system(1)|large_intestine(4)|skin(1)	6						c.(313-315)aafs		microcephalin 1							83.0	81.0	82.0					8																	6289099		1811	4070	5881	SO:0001589	frameshift_variant	79648					microtubule organizing center		g.chr8:6289099delA	AK022909	CCDS43689.1, CCDS55190.1, CCDS55191.1	8p23.1	2012-11-26	2007-11-26		ENSG00000147316	ENSG00000147316			6954	protein-coding gene	gene with protein product	"""BRCT-repeat inhibitor of TERT expression 1"""	607117	"""microcephaly, primary autosomal recessive 1"""			9683597, 17925396	Standard	NM_024596		Approved	FLJ12847, BRIT1	uc003wqi.3	Q8NEM0	OTTHUMG00000163618	ENST00000344683.5:c.313delA	8.37:g.6289099delA	ENSP00000342924:p.Lys107fs					MCPH1_ENST00000522905.1_Frame_Shift_Del_p.K107fs|MCPH1_ENST00000519480.1_Frame_Shift_Del_p.K107fs	p.K107fs	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN		Colorectal(4;0.0505)	4	389	+		Hepatocellular(245;0.0663)	107					B4DWW2|E9PGU5|E9PH63|Q66GU1|Q9H9C7	Frame_Shift_Del	DEL	ENST00000344683.5	37	c.313delA	CCDS43689.1																																																																																				0.274	MCPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374532.2	NM_024596		8	431						8	431	---	---	---	---
XKR5	389610	broad.mit.edu	37	8	6679301	6679302	+	RNA	DEL	CA	CA	-	rs370394378		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:6679301_6679302delCA	ENST00000518724.1	-	0	958							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		TGCATTGGTGcacacacacaca	0.401																																						ENST00000518724.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3								XK, Kell blood group complex subunit-related family, member 5																																						389610					integral to membrane		g.chr8:6679301_6679302delCA	AY358489		8p23.1	2006-01-12	2006-01-12		ENSG00000186530	ENSG00000275591			20782	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 5"""				Standard	NM_207411		Approved		uc022aqv.1	Q6UX68	OTTHUMG00000153652		8.37:g.6679311_6679312delCA										Q6UX68	XKR5_HUMAN	STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)	0	958	-								Q5GH74	RNA	DEL	ENST00000518724.1	37																																																																																						0.401	XKR5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000331969.2	NM_207411		7	56						7	56	---	---	---	---
UNC5D	137970	broad.mit.edu	37	8	35608248	35608248	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:35608248delT	ENST00000404895.2	+	13	2412	c.2084delT	c.(2083-2085)gttfs	p.V695fs	UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs|UNC5D_ENST00000287272.2_Frame_Shift_Del_p.V626fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	695					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGTGGCGGTTTTTGGCTGC	0.488																																						ENST00000287272.2																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(1876-1878)gtfs		unc-5 homolog D (C. elegans)							237.0	200.0	213.0					8																	35608248		2203	4300	6503	SO:0001589	frameshift_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35608248delT	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.2084delT	8.37:g.35608248delT	ENSP00000385143:p.Val695fs					UNC5D_ENST00000420357.1_Frame_Shift_Del_p.V628fs|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.V695fs|UNC5D_ENST00000449677.1_Frame_Shift_Del_p.V271fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.V700fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.V690fs	p.V626fs			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	12	1897	+			695			ZU5.		Q8WYP7	Frame_Shift_Del	DEL	ENST00000404895.2	37	c.1877delT	CCDS6093.2																																																																																				0.488	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			8	832						8	832	---	---	---	---
GPR124	25960	broad.mit.edu	37	8	37693141	37693141	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:37693141delC	ENST00000412232.2	+	13	1916	c.1903delC	c.(1903-1905)cccfs	p.P636fs	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	636					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TGCCCTGGCTCCCCCGGTGCC	0.662																																						ENST00000412232.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1903-1905)ccfs		G protein-coupled receptor 124							81.0	95.0	90.0					8																	37693141		2203	4300	6503	SO:0001589	frameshift_variant	25960				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr8:37693141delC	AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.1903delC	8.37:g.37693141delC	ENSP00000406367:p.Pro636fs					GPR124_ENST00000315215.7_Intron	p.P636fs	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		13	1916	+			636					A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Frame_Shift_Del	DEL	ENST00000412232.2	37	c.1903delC	CCDS6097.2																																																																																				0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343331.2			7	1760						7	1760	---	---	---	---
WHSC1L1	54904	broad.mit.edu	37	8	38205092	38205092	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:38205092delT	ENST00000317025.8	-	2	1115	c.598delA	c.(598-600)agcfs	p.S200fs	WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	200					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TGCTTGTTGCTTTTTTTCCTC	0.378			T	NUP98	AML																																	ENST00000317025.8				Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(598-600)gcfs		Wolf-Hirschhorn syndrome candidate 1-like 1							203.0	182.0	189.0					8																	38205092		2203	4300	6503	SO:0001589	frameshift_variant	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38205092delT	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.598delA	8.37:g.38205092delT	ENSP00000313983:p.Ser200fs					WHSC1L1_ENST00000433384.2_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000316985.3_Frame_Shift_Del_p.S200fs|WHSC1L1_ENST00000527502.1_Frame_Shift_Del_p.S200fs	p.S200fs	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		2	1115	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	200					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Frame_Shift_Del	DEL	ENST00000317025.8	37	c.598delA	CCDS43729.1																																																																																				0.378	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		7	849						7	849	---	---	---	---
ADAM9	8754	broad.mit.edu	37	8	38880792	38880793	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:38880792_38880793insG	ENST00000487273.2	+	9	940_941	c.862_863insG	c.(862-864)cggfs	p.R288fs		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	288	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CGTGCAGTGGCGGGAAAAGTTT	0.396																																						ENST00000487273.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(862-864)ggafs		ADAM metallopeptidase domain 9				2,4262		0,2,2130						3.8	1.0			138	0,8254		0,0,4127	no	frameshift	ADAM9	NM_003816.2		0,2,6257	A1A1,A1R,RR		0.0,0.0469,0.016				2,12516				SO:0001589	frameshift_variant	8754				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	g.chr8:38880792_38880793insG	U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.865dupG	8.37:g.38880795_38880795dupG	ENSP00000419446:p.Arg288fs						p.G288fs	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	LUSC - Lung squamous cell carcinoma(45;2.74e-07)		9	940_941	+		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	288			Peptidase M12B.		B7ZLN7|Q10718|Q8NFM6	Frame_Shift_Ins	INS	ENST00000487273.2	37	c.862_863insG	CCDS6112.1																																																																																				0.396	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357291.2			8	440						8	440	---	---	---	---
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	CTC	-	rs139076845		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:41798420_41798422delCTC	ENST00000396930.3	-	16	3520_3522	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del|KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	993	Poly-Glu.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										GGCTTTCCGGCTCCTCCTCCTCC	0.567																																						ENST00000396930.3																			0											c.(2977-2979)del		K(lysine) acetyltransferase 6A																																				SO:0001651	inframe_deletion	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41798420_41798422delCTC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.2977_2979delGAG	8.37:g.41798429_41798431delCTC	ENSP00000380136:p.Glu993del					KAT6A_ENST00000406337.1_In_Frame_Del_p.E993del|KAT6A_ENST00000265713.2_In_Frame_Del_p.E993del	p.E993del	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN			16	3520_3522	-			993			Poly-Glu.		Q76L81	In_Frame_Del	DEL	ENST00000396930.3	37	c.2977_2979delGAG	CCDS6124.1																																																																																				0.567	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		8	919						8	919	---	---	---	---
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(766-768)del		thymocyte selection-associated high mobility group box																																				SO:0001651	inframe_deletion	9760					nucleus	DNA binding	g.chr8:59750796_59750798delCTT		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.766_768delAAG	8.37:g.59750805_59750807delCTT	ENSP00000354842:p.Lys256del						p.K256del	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			5	986_988	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	256					Q96AV5	In_Frame_Del	DEL	ENST00000361421.1	37	c.766_768delAAG	CCDS34897.1																																																																																				0.453	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		8	807						8	807	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGATATCATCAAAAAAAAGAA	0.448																																						ENST00000523207.1																			1	Deletion - Frameshift(1)	p.E146fs*3(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(427-429)cafs		potassium voltage-gated channel, Shab-related subfamily, member 2							106.0	112.0	110.0					8																	73480397		2203	4300	6503	SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480397delA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.428delA	8.37:g.73480397delA	ENSP00000430846:p.Gln143fs						p.Q143fs	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1016	+	Breast(64;0.137)		143					Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	ENST00000523207.1	37	c.428delA	CCDS6209.1																																																																																				0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		9	768						9	768	---	---	---	---
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743																																						ENST00000382500.2																			0				endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14						c.(712-714)cccfs		forkhead box D4																																				SO:0001589	frameshift_variant	2298				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:117406_117407insG	U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.714dupC	9.37:g.117410_117410dupG	ENSP00000371940:p.Pro238fs						p.P238fs	NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)	1	1010_1011	-	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	238			Pro-rich.		B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	c.713_714insC	CCDS34975.1																																																																																				0.743	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305		19	376						19	376	---	---	---	---
RUSC2	9853	broad.mit.edu	37	9	35555384	35555384	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:35555384delC	ENST00000455600.1	+	3	2911	c.2342delC	c.(2341-2343)tccfs	p.S781fs		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	781						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)			NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCAGCTACTCCCCCATCCGG	0.662																																						ENST00000455600.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2341-2343)tcfs		RUN and SH3 domain containing 2							78.0	85.0	83.0					9																	35555384		2203	4300	6503	SO:0001589	frameshift_variant	9853					cytosol		g.chr9:35555384delC	AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2342delC	9.37:g.35555384delC	ENSP00000393922:p.Ser781fs						p.S781fs	NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)		3	2911	+			781					A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Frame_Shift_Del	DEL	ENST00000455600.1	37	c.2342delC	CCDS35008.1																																																																																				0.662	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462		9	2177						9	2177	---	---	---	---
CNTNAP3	79937	broad.mit.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	C	-	rs201862102		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:39149853delC	ENST00000297668.6	-	10	1672	c.1599delG	c.(1597-1599)gcgfs	p.A533fs	CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	533	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTCCCCAGCGCCCCCTGCT	0.542																																						ENST00000297668.6																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24						c.(1597-1599)gcfs		contactin associated protein-like 3				10,3536		0,10,1763	6.0	6.0	6.0			2.0	0.8	9		6	38,7192		2,34,3579	no	frameshift	CNTNAP3	NM_033655.3		2,44,5342	A1A1,A1R,RR		0.5256,0.282,0.4454			39149853	48,10728	1907	3893	5800	SO:0001589	frameshift_variant	79937				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding	g.chr9:39149853delC	AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1599delG	9.37:g.39149853delC	ENSP00000297668:p.Ala533fs					CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs	p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	10	1672	-			533			Laminin G-like 2.		B1AMA0|Q9C0E9	Frame_Shift_Del	DEL	ENST00000297668.6	37	c.1599delG	CCDS6616.1																																																																																				0.542	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655		8	83						8	83	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		12	445						12	445	---	---	---	---
CNTRL	11064	broad.mit.edu	37	9	123875985	123875985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:123875985delA	ENST00000373855.1	+	10	1588	c.1328delA	c.(1327-1329)gaafs	p.E443fs	CNTRL_ENST00000373865.2_Frame_Shift_Del_p.E443fs|CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E443fs			Q7Z7A1	CNTRL_HUMAN	centriolin	443					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GAAGACAAAGAAAAAAAAATA	0.318																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(1327-1329)gafs		centriolin							36.0	35.0	35.0					9																	123875985		2203	4298	6501	SO:0001589	frameshift_variant	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123875985delA	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.1328delA	9.37:g.123875985delA	ENSP00000362962:p.Glu443fs					CNTRL_ENST00000238341.5_Frame_Shift_Del_p.E443fs|CNTRL_ENST00000373865.2_Frame_Shift_Del_p.E443fs	p.E443fs			Q7Z7A1	CNTRL_HUMAN			10	1588	+			443					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Frame_Shift_Del	DEL	ENST00000373855.1	37	c.1328delA	CCDS35118.1																																																																																				0.318	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		8	292						8	292	---	---	---	---
NUP188	23511	broad.mit.edu	37	9	131750436	131750436	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:131750436delC	ENST00000372577.2	+	24	2525	c.2504delC	c.(2503-2505)tccfs	p.S835fs		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	835					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AATGTGGTGTCCCCCCTGGAA	0.473																																						ENST00000372577.2																			0				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						c.(2503-2505)tcfs		nucleoporin 188kDa							230.0	211.0	218.0					9																	131750436		2203	4300	6503	SO:0001589	frameshift_variant	23511				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr9:131750436delC	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.2504delC	9.37:g.131750436delC	ENSP00000361658:p.Ser835fs						p.S835fs	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN			24	2525	+			835					Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Frame_Shift_Del	DEL	ENST00000372577.2	37	c.2504delC	CCDS35156.1																																																																																				0.473	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2			8	1058						8	1058	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131864814	131864814	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:131864814delC	ENST00000318080.2	-	5	789	c.495delG	c.(493-495)gggfs	p.G165fs	RP11-247A12.1_ENST00000434250.1_RNA|CRAT_ENST00000464290.1_5'UTR	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	165					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	ACAGTGGCTTCCCCCCCAGGT	0.607																																						ENST00000318080.2																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13						c.(493-495)ggfs		carnitine O-acetyltransferase	L-Carnitine(DB00583)						196.0	189.0	191.0					9																	131864814		2203	4300	6503	SO:0001589	frameshift_variant	1384				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity	g.chr9:131864814delC	X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.495delG	9.37:g.131864814delC	ENSP00000315013:p.Gly165fs					CRAT_ENST00000464290.1_5'UTR	p.G165fs	NM_000755.3|NM_001257363.1	NP_000746.2|NP_001244292.1	P43155	CACP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	5	789	-			165					Q5T952|Q9BW16	Frame_Shift_Del	DEL	ENST00000318080.2	37	c.495delG	CCDS6919.1																																																																																				0.607	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253700.1			7	1839						7	1839	---	---	---	---
TSC1	7248	broad.mit.edu	37	9	135771988	135771990	+	In_Frame_Del	DEL	GCT	GCT	-	rs397514812|rs201192125	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr9:135771988_135771990delGCT	ENST00000298552.3	-	23	3348_3350	c.3127_3129delAGC	c.(3127-3129)agcdel	p.S1043del	TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del|TSC1_ENST00000545250.1_In_Frame_Del_p.S992del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	1043	Poly-Ser.		Missing (in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling). {ECO:0000269|PubMed:22161988}.		activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.S1043N(1)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		TAGAAAGCTCgctgctgctgctg	0.64			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3			yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			2	Substitution - Missense(1)|Unknown(1)	p.S1043N(1)|p.?(1)	central_nervous_system(1)|bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(3127-3129)del		tuberous sclerosis 1																																				SO:0001651	inframe_deletion	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135771988_135771990delGCT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.3127_3129delAGC	9.37:g.135771997_135771999delGCT	ENSP00000298552:p.Ser1043del					TSC1_ENST00000545250.1_In_Frame_Del_p.S992del|TSC1_ENST00000440111.2_In_Frame_Del_p.S1043del	p.S1043del	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	23	3348_3350	-			1043			Poly-Ser.		B7Z897|Q5VVN5	In_Frame_Del	DEL	ENST00000298552.3	37	c.3127_3129delAGC	CCDS6956.1																																																																																				0.640	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1			9	290						9	290	---	---	---	---
RUFY2	55680	broad.mit.edu	37	10	70156583	70156583	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:70156583delT	ENST00000602465.1	-	4	452	c.352delA	c.(352-354)atgfs	p.M118fs	RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000388768.2_Frame_Shift_Del_p.M153fs			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	167	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TAATCGGCCATTTTTTTTTGC	0.398																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(457-459)tgfs		RUN and FYVE domain containing 2							81.0	80.0	81.0					10																	70156583		1832	4087	5919	SO:0001589	frameshift_variant	55680					nucleus	metal ion binding	g.chr10:70156583delT	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.352delA	10.37:g.70156583delT	ENSP00000473462:p.Met118fs					RUFY2_ENST00000399200.2_Intron|RUFY2_ENST00000602465.1_Frame_Shift_Del_p.M118fs|RUFY2_ENST00000472394.2_5'UTR|RUFY2_ENST00000454950.2_Frame_Shift_Del_p.M60fs|RUFY2_ENST00000342616.4_Frame_Shift_Del_p.M118fs	p.M153fs	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			4	783	-			167			RUN.		B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Frame_Shift_Del	DEL	ENST00000602465.1	37	c.457delA																																																																																					0.398	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		13	369						13	369	---	---	---	---
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	GA	-	rs147413396		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:70509285_70509286delGA	ENST00000265872.6	+	10	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	321	Arg-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391																																						ENST00000265872.6																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(961-963)gfs		cell division cycle and apoptosis regulator 1																																				SO:0001589	frameshift_variant	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70509285_70509286delGA	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.961_962delGA	10.37:g.70509295_70509296delGA	ENSP00000265872:p.Glu321fs					CCAR1_ENST00000535016.1_Frame_Shift_Del_p.E306fs|CCAR1_ENST00000543719.1_Frame_Shift_Del_p.E306fs	p.E321fs	NM_018237.2	NP_060707.2	Q8IX12	CCAR1_HUMAN			10	1080_1081	+			321			Arg-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Frame_Shift_Del	DEL	ENST00000265872.6	37	c.961_962delGA	CCDS7282.1																																																																																				0.391	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	NM_018237		9	207						9	207	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81056295	81056295	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:81056295delC	ENST00000334512.5	+	13	1870	c.1298delC	c.(1297-1299)gccfs	p.A433fs	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	433	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)			CAGTACCCAGCCCCCAACCCC	0.637																																						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.(1297-1299)gcfs		zinc finger, MIZ-type containing 1							84.0	94.0	91.0					10																	81056295		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81056295delC	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.1298delC	10.37:g.81056295delC	ENSP00000334474:p.Ala433fs					ZMIZ1_ENST00000478357.1_3'UTR	p.A433fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		13	1870	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		433			Pro-rich.		Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.1298delC	CCDS7357.1																																																																																				0.637	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	968						7	968	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gacfs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					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)			CTTATCTGGACCCCCCCGACC	0.557																																						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.(3142-3144)gafs		zinc finger, MIZ-type containing 1							193.0	181.0	185.0					10																	81072446		2203	4300	6503	SO:0001589	frameshift_variant	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81072446delC	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.3144delC	10.37:g.81072446delC	ENSP00000334474:p.Asp1048fs					ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	p.D1048fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		25	3716	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		1048					Q5JSH9|Q7Z7E6	Frame_Shift_Del	DEL	ENST00000334512.5	37	c.3144delC	CCDS7357.1																																																																																				0.557	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	1648						7	1648	---	---	---	---
FAS	355	broad.mit.edu	37	10	90768708	90768708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:90768708delT	ENST00000355279.2	+	4	397	c.397delT	c.(397-399)tttfs	p.F134fs	FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355740.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs			P49327	FAS_HUMAN	Fas cell surface death receptor	0	Beta-ketoacyl synthase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	Cerulenin(DB01034)|Orlistat(DB01083)	TAAACCAAACTTTTTTTGTAA	0.368																																						ENST00000355740.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18						c.(397-399)ttfs		Fas cell surface death receptor							338.0	365.0	356.0					10																	90768708		2203	4300	6503	SO:0001589	frameshift_variant	355				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	g.chr10:90768708delT	M67454	CCDS7393.1, CCDS7394.1, CCDS7395.1	10q24.1	2014-09-17	2013-05-22	2005-01-07	ENSG00000026103	ENSG00000026103		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11920	protein-coding gene	gene with protein product	"""TNF receptor superfamily member 6"""	134637	"""tumor necrosis factor receptor superfamily, member 6"", ""Fas (TNF receptor superfamily, member 6)"""	FAS1, APT1, TNFRSF6		1385299, 1385309	Standard	NM_000043		Approved	CD95, APO-1	uc001kfr.3	P25445	OTTHUMG00000018701	ENST00000355279.2:c.397delT	10.37:g.90768708delT	ENSP00000347426:p.Phe134fs					FAS_ENST00000352159.4_Frame_Shift_Del_p.F134fs|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000357339.2_Frame_Shift_Del_p.F134fs|FAS_ENST00000355279.2_Frame_Shift_Del_p.F134fs	p.F134fs	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)	4	617	+		Colorectal(252;0.0161)	134					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Frame_Shift_Del	DEL	ENST00000355279.2	37	c.397delT	CCDS7395.1																																																																																				0.368	FAS-011	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000049280.2			10	2839						10	2839	---	---	---	---
LZTS2	84445	broad.mit.edu	37	10	102763415	102763417	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:102763415_102763417delCCT	ENST00000370220.1	+	2	3623_3625	c.560_562delCCT	c.(559-564)gcctcc>gcc	p.S197del	LZTS2_ENST00000370223.3_In_Frame_Del_p.S197del					leucine zipper, putative tumor suppressor 2											breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		GGGGGCCCTGcctcctcctcctc	0.65																																					Esophageal Squamous(8;38 437 13604 19902 37640)	ENST00000370220.1																			0				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(559-564)gcc>g		leucine zipper, putative tumor suppressor 2				12,4252		3,6,2123						5.3	1.0			94	17,8235		4,9,4113	no	coding	LZTS2	NM_032429.2		7,15,6236	A1A1,A1R,RR		0.206,0.2814,0.2317				29,12487				SO:0001651	inframe_deletion	84445				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center		g.chr10:102763415_102763417delCCT	AB058716	CCDS7507.1	10q24	2004-03-18			ENSG00000107816	ENSG00000107816			29381	protein-coding gene	gene with protein product		610454				11347906, 11709705	Standard	NM_032429		Approved	KIAA1813, LAPSER1	uc001ksj.3	Q9BRK4	OTTHUMG00000018914	ENST00000370220.1:c.560_562delCCT	10.37:g.102763424_102763426delCCT	ENSP00000359240:p.Ser197del					LZTS2_ENST00000370223.3_In_Frame_Del_p.AS187del	p.AS187del			Q9BRK4	LZTS2_HUMAN		Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)	2	3623_3625	+			187			Required for centrosomal localization (By similarity).			In_Frame_Del	DEL	ENST00000370220.1	37	c.560_562delCCT	CCDS7507.1																																																																																				0.650	LZTS2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049872.1	XM_046743		15	1218						15	1218	---	---	---	---
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)cgcfs	p.R56fs	SFXN3_ENST00000393459.1_5'Flank|PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs|SFXN3_ENST00000224807.5_5'Flank	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)		p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667																																						ENST00000370215.3																			1	Substitution - Missense(1)	p.R56C(1)	breast(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(166-168)gcfs		PDZ domain containing 7							49.0	58.0	55.0					10																	102789811		2203	4300	6503	SO:0001589	frameshift_variant	79955					cilium|nucleus	protein binding	g.chr10:102789811delG	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.166delC	10.37:g.102789811delG	ENSP00000359234:p.Arg56fs					PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	2	391	-			56					D5FJ77|Q8N321	Frame_Shift_Del	DEL	ENST00000370215.3	37	c.166delC	CCDS31269.1																																																																																				0.667	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	NM_024895		9	686						9	686	---	---	---	---
POLL	27343	broad.mit.edu	37	10	103345131	103345133	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:103345131_103345133delGGA	ENST00000370162.3	-	4	1007_1009	c.513_515delTCC	c.(511-516)cctccc>ccc	p.171_172PP>P	DPCD_ENST00000370151.4_5'Flank|DPCD_ENST00000370148.2_5'Flank|POLL_ENST00000299206.4_In_Frame_Del_p.171_172PP>P|POLL_ENST00000370172.1_In_Frame_Del_p.83_84PP>P|POLL_ENST00000370169.1_In_Frame_Del_p.171_172PP>P|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370168.3_5'Flank|POLL_ENST00000370158.3_Intron|DPCD_ENST00000370147.1_5'Flank|POLL_ENST00000436284.2_Intron	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	171					DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|nucleotide-excision repair (GO:0006289)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGGCCTGGTGGGAGGAGGAGGAG	0.591								DNA polymerases (catalytic subunits)																														ENST00000370162.3																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19						c.(511-516)ccc>cc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), lambda			,,	22,4242		11,0,2121					,,	-0.9	0.0			149	45,8209		19,7,4101	no	coding,coding,coding	POLL	NM_013274.3,NM_001174085.1,NM_001174084.1	,,	30,7,6222	A1A1,A1R,RR		0.5452,0.5159,0.5352	,,	,,		67,12451				SO:0001651	inframe_deletion	27343				DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding	g.chr10:103345131_103345133delGGA	AF161019	CCDS7513.1	10q23	2012-05-18			ENSG00000166169	ENSG00000166169		"""DNA polymerases"""	9184	protein-coding gene	gene with protein product		606343				17686665	Standard	NM_001174084		Approved		uc001kti.2	Q9UGP5	OTTHUMG00000018933	ENST00000370162.3:c.513_515delTCC	10.37:g.103345140_103345142delGGA	ENSP00000359181:p.Pro172del					POLL_ENST00000370158.3_Intron|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370169.1_In_Frame_Del_p.PP171del|POLL_ENST00000370172.1_In_Frame_Del_p.PP83del|POLL_ENST00000339310.3_Intron|POLL_ENST00000299206.4_In_Frame_Del_p.PP171del|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Intron|POLL_ENST00000436284.2_Intron	p.PP171del	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)	4	1007_1009	-		Colorectal(252;0.234)	171					D3DR76|Q5JQP5|Q6NUM2|Q9BTN8|Q9HA10|Q9HB35	In_Frame_Del	DEL	ENST00000370162.3	37	c.513_515delTCC	CCDS7513.1																																																																																				0.591	POLL-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049946.1	NM_013274		8	436						8	436	---	---	---	---
ADD3	120	broad.mit.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:111893350delA	ENST00000356080.4	+	15	2462	c.2095delA	c.(2095-2097)aaafs	p.K701fs	ADD3_ENST00000277900.8_Frame_Shift_Del_p.K669fs|ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701	Interaction with calmodulin. {ECO:0000255}.					cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333																																						ENST00000277900.8																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29						c.(1999-2001)aafs		adducin 3 (gamma)							51.0	59.0	56.0					10																	111893350		2198	4295	6493	SO:0001589	frameshift_variant	120					cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton	g.chr10:111893350delA	U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.2095delA	10.37:g.111893350delA	ENSP00000348381:p.Lys701fs					ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs	p.K669fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)	14	2364	+		Breast(234;0.052)|Lung NSC(174;0.223)	701					D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Frame_Shift_Del	DEL	ENST00000356080.4	37	c.1999delA	CCDS7561.1																																																																																				0.333	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050289.1	NM_019903		7	688						7	688	---	---	---	---
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:118424338delT	ENST00000369210.3	-	4	449	c.395delA	c.(394-396)aacfs	p.N132fs	C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567																																						ENST00000369210.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(394-396)acfs		chromosome 10 open reading frame 82							158.0	140.0	146.0					10																	118424338		2203	4300	6503	SO:0001589	frameshift_variant	143379							g.chr10:118424338delT	BC021737	CCDS7596.1	10q26.12	2012-05-31			ENSG00000165863	ENSG00000165863			28500	protein-coding gene	gene with protein product						12477932	Standard	NM_144661		Approved	MGC33547, Em:AC016825.4	uc001lcr.3	Q8WW14	OTTHUMG00000019105	ENST00000369210.3:c.395delA	10.37:g.118424338delT	ENSP00000358212:p.Asn132fs					C10orf82_ENST00000588184.1_Frame_Shift_Del_p.N132fs	p.N132fs	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN		all cancers(201;0.0143)	4	449	-			132					B3KUM9|D3DRC3	Frame_Shift_Del	DEL	ENST00000369210.3	37	c.395delA	CCDS7596.1																																																																																				0.567	C10orf82-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000050527.1	NM_144661		7	771						7	771	---	---	---	---
TACC2	10579	broad.mit.edu	37	10	123970380	123970380	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:123970380delC	ENST00000369005.1	+	9	6780	c.6440delC	c.(6439-6441)accfs	p.T2147fs	TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2147					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCACAGAGACCCCCCCAGTG	0.522																																						ENST00000369005.1																			0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(6439-6441)acfs		transforming, acidic coiled-coil containing protein 2							94.0	107.0	103.0					10																	123970380		2203	4300	6503	SO:0001589	frameshift_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970380delC	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6440delC	10.37:g.123970380delC	ENSP00000358001:p.Thr2147fs					TACC2_ENST00000334433.3_Frame_Shift_Del_p.T2147fs|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000368999.1_Frame_Shift_Del_p.T225fs|TACC2_ENST00000369004.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000513429.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000358010.1_Frame_Shift_Del_p.T293fs|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Frame_Shift_Del_p.T225fs|TACC2_ENST00000515603.1_Frame_Shift_Del_p.T2102fs|TACC2_ENST00000453444.2_Frame_Shift_Del_p.T2151fs|TACC2_ENST00000515273.1_Frame_Shift_Del_p.T2151fs	p.T2147fs	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN			9	6780	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2147					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Frame_Shift_Del	DEL	ENST00000369005.1	37	c.6440delC	CCDS7626.1																																																																																				0.522	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			8	1370						8	1370	---	---	---	---
HMX2	3167	broad.mit.edu	37	10	124909413	124909414	+	Frame_Shift_Ins	INS	-	-	C	rs369511308		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr10:124909413_124909414insC	ENST00000339992.3	+	2	853_854	c.596_597insC	c.(595-600)aaccgcfs	p.R200fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	200					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		TGGTTCCAGAACCGCCGCAACA	0.649																																						ENST00000339992.3																			0				endometrium(1)|kidney(1)|lung(4)|prostate(1)	7						c.(595-597)acgfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:124909413_124909414insC		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.598dupC	10.37:g.124909415_124909415dupC	ENSP00000341108:p.Arg200fs						p.T199fs	NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)	2	853_854	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	199					B2RNV5	Frame_Shift_Ins	INS	ENST00000339992.3	37	c.596_597insC	CCDS31305.1																																																																																				0.649	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	XM_370580		9	187						9	187	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		12	785						12	785	---	---	---	---
CDHR5	53841	broad.mit.edu	37	11	618807	618807	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:618807delG	ENST00000358353.3	-	14	2074	c.1752delC	c.(1750-1752)cccfs	p.P584fs	IRF7_ENST00000397574.2_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P584fs|IRF7_ENST00000397570.1_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	584	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						TTCCCATACTGGGGGGCATCG	0.677																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1750-1752)ccfs		cadherin-related family member 5							103.0	110.0	108.0					11																	618807		2203	4300	6503	SO:0001589	frameshift_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618807delG	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1752delC	11.37:g.618807delG	ENSP00000351118:p.Pro584fs					CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Frame_Shift_Del_p.P584fs	p.P584fs			Q9HBB8	CDHR5_HUMAN			14	2074	-			584			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Frame_Shift_Del	DEL	ENST00000358353.3	37	c.1752delC	CCDS7707.1																																																																																				0.677	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		8	940						8	940	---	---	---	---
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	CTG	-	rs61867552	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:864443_864445delCTG	ENST00000397404.1	+	5	521_523	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.65																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(262-264)del		tetraspanin 4																																				SO:0001651	inframe_deletion	0				protein complex assembly	integral to plasma membrane		g.chr11:864443_864445delCTG	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.262_264delCTG	11.37:g.864452_864454delCTG	ENSP00000380553:p.Leu92del					TSPAN4_ENST00000409543.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397396.1_In_Frame_Del_p.L28del|TSPAN4_ENST00000397408.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000397411.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397397.2_In_Frame_Del_p.L92del|TSPAN4_ENST00000397406.1_In_Frame_Del_p.L92del|TSPAN4_ENST00000346501.4_In_Frame_Del_p.L92del|TSPAN4_ENST00000409531.1_In_Frame_Del_p.L111del|TSPAN4_ENST00000525201.1_In_Frame_Del_p.L28del	p.L92del	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	521_523	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	In_Frame_Del	DEL	ENST00000397404.1	37	c.262_264delCTG	CCDS7721.1																																																																																				0.650	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			17	642						17	642	---	---	---	---
MICALCL	84953	broad.mit.edu	37	11	12316344	12316345	+	In_Frame_Ins	INS	-	-	CTC	rs3841216|rs573537447		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:12316344_12316345insCTC	ENST00000256186.2	+	3	1657_1658	c.1366_1367insCTC	c.(1366-1368)gct>gCTCct	p.470_471insP		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	470	Poly-Pro.		T -> P (in dbSNP:rs3812754).		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	mitogen-activated protein kinase binding (GO:0051019)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		GCGCCAGGCAGctcctcctcct	0.604																																						ENST00000256186.2																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30						c.(1366-1368)tcc>CTCtcc		MICAL C-terminal like																																				SO:0001652	inframe_insertion	84953				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding	g.chr11:12316344_12316345insCTC	BK000463	CCDS41620.1	11p15.3	2005-11-01			ENSG00000133808	ENSG00000133808			25933	protein-coding gene	gene with protein product		612355				12110185	Standard	NM_032867		Approved	FLJ14966	uc001mkg.1	Q6ZW33	OTTHUMG00000165777	ENST00000256186.2:c.1406_1408dupCTC	11.37:g.12316351_12316353dupCTC	ENSP00000256186:p.Pro470_Pro470dup						p.455_456insL	NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN		Epithelial(150;0.00177)	3	1657_1658	+			455					Q7RTP7|Q96JU6	In_Frame_Ins	INS	ENST00000256186.2	37	c.1366_1367insCTC	CCDS41620.1																																																																																				0.604	MICALCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386164.1	NM_032867		13	186						13	186	---	---	---	---
CPSF7	79869	broad.mit.edu	37	11	61183765	61183767	+	In_Frame_Del	DEL	AGG	AGG	-	rs370932425		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:61183765_61183767delAGG	ENST00000394888.4	-	6	947_949	c.775_777delCCT	c.(775-777)cctdel	p.P259del	CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000340437.4_In_Frame_Del_p.P302del	NM_001136040.2	NP_001129512.1	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	259	Pro-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|protein tetramerization (GO:0051262)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						AGTGGATACCAGGAGGAGGAGGA	0.611																																						ENST00000340437.4																			0				breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						c.(904-906)del		cleavage and polyadenylation specific factor 7, 59kDa																																				SO:0001651	inframe_deletion	79869				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding	g.chr11:61183765_61183767delAGG		CCDS8006.2, CCDS44619.1, CCDS44620.1	11q12.2	2013-06-18			ENSG00000149532	ENSG00000149532		"""RNA binding motif (RRM) containing"""	30098	protein-coding gene	gene with protein product	"""pre mRNA cleavage factor I, 59 kDa subunit"", ""cleavage factor Im complex 59 kDa subunit"""					12477932	Standard	NM_024811		Approved	FLJ12529	uc001nrp.3	Q8N684	OTTHUMG00000168198	ENST00000394888.4:c.775_777delCCT	11.37:g.61183774_61183776delAGG	ENSP00000378352:p.Pro259del					CPSF7_ENST00000439958.3_In_Frame_Del_p.P250del|CPSF7_ENST00000448745.1_In_Frame_Del_p.P250del|CPSF7_ENST00000394888.4_In_Frame_Del_p.P259del	p.P302del	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN			6	984_986	-			259			Pro-rich.		B3KU04|C9K0Q4|Q7Z3H9|Q9H025|Q9H9V1	In_Frame_Del	DEL	ENST00000394888.4	37	c.904_906delCCT	CCDS44619.1																																																																																				0.611	CPSF7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347835.2	NM_024811		8	341						8	341	---	---	---	---
ADRBK1	156	broad.mit.edu	37	11	67052434	67052435	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:67052434_67052435insG	ENST00000308595.5	+	19	2061_2062	c.1771_1772insG	c.(1771-1773)cggfs	p.R591fs	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	591	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTCGAGTGGCGGGGCGAGGGC	0.688																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1771-1773)gggfs		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052434_67052435insG	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1775dupG	11.37:g.67052438_67052438dupG	ENSP00000312262:p.Arg591fs					ADRBK1_ENST00000527176.1_3'UTR|ADRBK1_ENST00000526285.1_Intron	p.G591fs	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		19	2061_2062	+			591			PH.		B0ZBE1|Q13837|Q6GTT3	Frame_Shift_Ins	INS	ENST00000308595.5	37	c.1771_1772insG	CCDS8156.1																																																																																				0.688	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		11	189						11	189	---	---	---	---
MMP12	4321	broad.mit.edu	37	11	102743846	102743847	+	RNA	INS	-	-	A	rs552593852|rs199627800		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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	112						7	112	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G	rs200755405		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:118629613_118629614insG	ENST00000526070.2	-	9	1225		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000264018.4_Splice_Site	NM_001257191.1	NP_001244120.1	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						cytoplasmic mRNA processing body assembly (GO:0033962)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL																																	ENST00000264018.4				Dom	yes		11	11q23.3	1656	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 6			L	IGH@		B-NHL		0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13						c.e9-2		DEAD (Asp-Glu-Ala-Asp) box helicase 6				28,3478		0,28,1725						5.8	1.0			104	55,7749		0,55,3847	no	splice-3	DDX6	NM_004397.4		0,83,5572	A1A1,A1R,RR		0.7048,0.7986,0.7339				83,11227				SO:0001630	splice_region_variant	1656				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	g.chr11:118629613_118629614insG	D17532	CCDS44751.1	11q23.3	2012-02-23	2012-02-23		ENSG00000110367	ENSG00000110367		"""DEAD-boxes"""	2747	protein-coding gene	gene with protein product		600326	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 6 (RNA helicase, 54kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 6"""	HLR2		1579499, 11839790	Standard	NM_004397		Approved	RCK	uc001pub.2	P26196	OTTHUMG00000166411	ENST00000526070.2:c.865-2->C	11.37:g.118629621_118629621dupG						DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site		NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)	9	1170	-	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)						Q5D048	Splice_Site	INS	ENST00000526070.2	37		CCDS44751.1																																																																																				0.426	DDX6-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000389647.2	NM_004397	Intron	8	916						8	916	---	---	---	---
OR8D4	338662	broad.mit.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	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		8	1201						8	1201	---	---	---	---
PRDM10	56980	broad.mit.edu	37	11	129827738	129827738	+	Frame_Shift_Del	DEL	G	G	-	rs201927504		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr11:129827738delG	ENST00000360871.3	-	3	368	c.137delC	c.(136-138)ccafs	p.P46fs	PRDM10_ENST00000358825.5_Frame_Shift_Del_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.P46fs	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	46				P -> S (in Ref. 6; AAI12935). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CACCTGCTGTGGGGGGCGAAC	0.547																																						ENST00000358825.5																			0				breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48						c.(136-138)cafs		PR domain containing 10							253.0	223.0	234.0					11																	129827738		2201	4297	6498	SO:0001589	frameshift_variant	56980				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr11:129827738delG	AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.137delC	11.37:g.129827738delG	ENSP00000354118:p.Pro46fs					PRDM10_ENST00000360871.3_Frame_Shift_Del_p.P46fs|PRDM10_ENST00000528746.1_Frame_Shift_Del_p.P46fs	p.P46fs	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)	3	368	-	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	46					B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Frame_Shift_Del	DEL	ENST00000360871.3	37	c.137delC	CCDS8484.1																																																																																				0.547	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1	NM_199437		7	1474						7	1474	---	---	---	---
TEAD4	7004	broad.mit.edu	37	12	3131163	3131163	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:3131163delT	ENST00000397122.2	+	8	775	c.490delT	c.(490-492)tttfs	p.F165fs	TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs|TEAD4_ENST00000359864.2_Frame_Shift_Del_p.F294fs	NM_201443.2	NP_958851.1	Q15561	TEAD4_HUMAN	TEA domain family member 4	294					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCCAATGCCTTTTTTCTTGT	0.542																																						ENST00000359864.2																			0				endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10						c.(877-879)ttfs		TEA domain family member 4							127.0	129.0	129.0					12																	3131163		2203	4300	6503	SO:0001589	frameshift_variant	7004				hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:3131163delT	X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000397122.2:c.490delT	12.37:g.3131163delT	ENSP00000380311:p.Phe165fs					TEAD4_ENST00000358409.2_Frame_Shift_Del_p.F251fs|TEAD4_ENST00000397122.2_Frame_Shift_Del_p.F165fs	p.F294fs	NM_003213.3	NP_003204.2	Q15561	TEAD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)		10	1067	+	Ovarian(42;0.211)		294					H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Frame_Shift_Del	DEL	ENST00000397122.2	37	c.877delT	CCDS41737.1																																																																																				0.542	TEAD4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398477.1	NM_003213		8	847						8	847	---	---	---	---
TAS2R42	353164	broad.mit.edu	37	12	11338799	11338799	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:11338799delA	ENST00000334266.1	-	1	744	c.745delT	c.(745-747)tccfs	p.S249fs		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	249					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)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			ACTTGTAAGGAAAAAAAATGA	0.423																																					Melanoma(15;352 722 10077 19546 48810)	ENST00000334266.1																			0				breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(745-747)ccfs		taste receptor, type 2, member 42							78.0	76.0	77.0					12																	11338799		2203	4300	6503	SO:0001589	frameshift_variant	353164				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11338799delA	AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.745delT	12.37:g.11338799delA	ENSP00000334050:p.Ser249fs						p.S249fs	NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0455)		1	744	-			249					A2RRP4|Q645X0	Frame_Shift_Del	DEL	ENST00000334266.1	37	c.745delT	CCDS31747.1																																																																																				0.423	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400243.1	NM_181429		7	383						7	383	---	---	---	---
RERG	85004	broad.mit.edu	37	12	15262412	15262412	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:15262412delC	ENST00000256953.2	-	5	568	c.232delG	c.(232-234)gaafs	p.E78fs	RERG-IT1_ENST00000539734.1_RNA|RERG_ENST00000536465.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000546331.1_Frame_Shift_Del_p.E59fs|RERG_ENST00000538313.1_Frame_Shift_Del_p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	78					negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|response to hormone (GO:0009725)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	estrogen receptor binding (GO:0030331)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						ACAAAGCCTTCCCCCCATCGC	0.458																																						ENST00000256953.2																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(232-234)aafs		RAS-like, estrogen-regulated, growth inhibitor							293.0	301.0	298.0					12																	15262412		2203	4300	6503	SO:0001589	frameshift_variant	85004				negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	g.chr12:15262412delC	AF339750	CCDS8673.1, CCDS53753.1	12p13.1	2014-05-09			ENSG00000134533	ENSG00000134533			15980	protein-coding gene	gene with protein product		612664				11533059	Standard	NM_032918		Approved	MGC15754	uc001rct.3	Q96A58	OTTHUMG00000168745	ENST00000256953.2:c.232delG	12.37:g.15262412delC	ENSP00000256953:p.Glu78fs					RERG_ENST00000538313.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000536465.1_Frame_Shift_Del_p.E78fs|RERG_ENST00000546331.1_Frame_Shift_Del_p.E59fs	p.E78fs	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN			5	568	-			78					B2R9R0|B4DI02	Frame_Shift_Del	DEL	ENST00000256953.2	37	c.232delG	CCDS8673.1																																																																																				0.458	RERG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400882.1	NM_032918		7	2284						7	2284	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087434	49087436	+	In_Frame_Del	DEL	ATG	ATG	-	rs371197465		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:49087434_49087436delATG	ENST00000261900.3	-	9	1783_1785	c.1561_1563delCAT	c.(1561-1563)catdel	p.H521del		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	521	His-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|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)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						AGTGGTGATTATGATGATGATGA	0.443																																						ENST00000261900.3																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						c.(1561-1563)del		cyclin T1				12,4250		0,12,2119						4.8	1.0			307	3,8241		1,1,4120	no	coding	CCNT1	NM_001240.2		1,13,6239	A1A1,A1R,RR		0.0364,0.2816,0.1199				15,12491				SO:0001651	inframe_deletion	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087434_49087436delATG	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1561_1563delCAT	12.37:g.49087443_49087445delATG	ENSP00000261900:p.His521del						p.H521del	NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN			9	1783_1785	-			521			His-rich.		A9XU13|E7EX76|O60581	In_Frame_Del	DEL	ENST00000261900.3	37	c.1561_1563delCAT	CCDS8766.1																																																																																				0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		9	1680						9	1680	---	---	---	---
ESPL1	9700	broad.mit.edu	37	12	53663328	53663328	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:53663328delC	ENST00000257934.4	+	3	693	c.602delC	c.(601-603)gccfs	p.A201fs	ESPL1_ENST00000552462.1_Frame_Shift_Del_p.A201fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	201					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCGGTAGCTGCCCATCAGCTA	0.527																																					Colon(53;1069 1201 2587 5382)	ENST00000257934.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						c.(601-603)gcfs		extra spindle pole bodies homolog 1 (S. cerevisiae)							238.0	242.0	240.0					12																	53663328		2203	4300	6503	SO:0001589	frameshift_variant	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53663328delC	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.602delC	12.37:g.53663328delC	ENSP00000257934:p.Ala201fs					ESPL1_ENST00000552462.1_Frame_Shift_Del_p.A201fs	p.A201fs	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN			3	693	+			201						Frame_Shift_Del	DEL	ENST00000257934.4	37	c.602delC	CCDS8852.1																																																																																				0.527	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		8	1990						8	1990	---	---	---	---
METTL21B	25895	broad.mit.edu	37	12	58177051	58177052	+	IGR	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:58177051_58177052insG	ENST00000300209.8	+	0	2563				TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000454289.3_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000497617.1_3'UTR	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						AGACTTGTGGCGGGGACCTCAA	0.569																																						ENST00000454289.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8						c.(214-219)gggggafs		Ts translation elongation factor, mitochondrial			,,,	17,4247		0,17,2115					,,,	1.2	1.0			107	33,8221		0,33,4094	no	frameshift,frameshift,frameshift,frameshift	TSFM	NM_005726.5,NM_001172697.1,NM_001172696.1,NM_001172695.1	,,,	0,50,6209	A1A1,A1R,RR		0.3998,0.3987,0.3994	,,,	,,,		50,12468				SO:0001628	intergenic_variant	10102				regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity	g.chr12:58177051_58177052insG	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58177055_58177055dupG						TSFM_ENST00000543727.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000540550.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000497617.1_3'UTR|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.G87fs|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.GG72fs|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.GG72fs|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000350762.5_5'UTR	p.GG72fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN			2	429_430	+	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		72					Q9H749|Q9Y3W2	Frame_Shift_Ins	INS	ENST00000300209.8	37	c.216_217insG	CCDS8957.1																																																																																				0.569	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		9	1061						9	1061	---	---	---	---
SYCP3	50511	broad.mit.edu	37	12	102122901	102122901	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:102122901delT	ENST00000392927.3	-	8	774	c.643delA	c.(643-645)attfs	p.I215fs	SYCP3_ENST00000266743.2_Frame_Shift_Del_p.I215fs|SYCP3_ENST00000392924.1_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		7	160						7	160	---	---	---	---
RASAL1	8437	broad.mit.edu	37	12	113565943	113565943	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:113565943delC	ENST00000261729.5	-	4	478	c.163delG	c.(163-165)gagfs	p.E56fs	RASAL1_ENST00000546530.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	56	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GTGTACTCCTCCCCCCAGAAG	0.617																																						ENST00000546530.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(163-165)agfs		RAS protein activator like 1 (GAP1 like)							182.0	182.0	182.0					12																	113565943		2203	4300	6503	SO:0001589	frameshift_variant	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113565943delC	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.163delG	12.37:g.113565943delC	ENSP00000261729:p.Glu56fs					RASAL1_ENST00000261729.5_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000446861.3_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000548055.1_Frame_Shift_Del_p.E56fs|RASAL1_ENST00000418411.2_5'UTR	p.E56fs	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			4	448	-			56			C2 1.		B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Frame_Shift_Del	DEL	ENST00000261729.5	37	c.163delG	CCDS9165.1																																																																																				0.617	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		7	1787						7	1787	---	---	---	---
CCDC60	160777	broad.mit.edu	37	12	119942961	119942961	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:119942961delG	ENST00000327554.2	+	7	1201	c.736delG	c.(736-738)gggfs	p.G247fs	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	247										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCGGGCCAGTGGGGGGTCCTC	0.562																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(736-738)ggfs		coiled-coil domain containing 60							99.0	106.0	104.0					12																	119942961		2203	4300	6503	SO:0001589	frameshift_variant	160777							g.chr12:119942961delG	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.736delG	12.37:g.119942961delG	ENSP00000333374:p.Gly247fs					RP11-768F21.1_ENST00000509470.2_lincRNA	p.G247fs	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1201	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		247						Frame_Shift_Del	DEL	ENST00000327554.2	37	c.736delG	CCDS9190.1																																																																																				0.562	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		7	996						7	996	---	---	---	---
POP5	51367	broad.mit.edu	37	12	121017154	121017156	+	In_Frame_Del	DEL	CTC	CTC	-	rs188092231|rs369463367		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:121017154_121017156delCTC	ENST00000357500.4	-	5	492_494	c.457_459delGAG	c.(457-459)gagdel	p.E153del	POP5_ENST00000341039.2_In_Frame_Del_p.E103del|POP5_ENST00000542776.1_5'UTR	NM_015918.3	NP_057002.2	Q969H6	POP5_HUMAN	processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)	153					tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	all_neural(191;0.077)|Medulloblastoma(191;0.0922)					CCTCACCTGACTCCTCCTCCTCC	0.517																																						ENST00000341039.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7						c.(307-309)del		processing of precursor 5, ribonuclease P/MRP subunit (S. cerevisiae)																																				SO:0001651	inframe_deletion	51367				tRNA processing		protein binding|ribonuclease P activity	g.chr12:121017154_121017156delCTC	AJ306296	CCDS9202.1, CCDS9203.1	12q24.31	2012-05-21			ENSG00000167272	ENSG00000167272			17689	protein-coding gene	gene with protein product		609992				11413139	Standard	NM_198202		Approved		uc001tys.3	Q969H6	OTTHUMG00000169023	ENST00000357500.4:c.457_459delGAG	12.37:g.121017163_121017165delCTC	ENSP00000350098:p.Glu153del					POP5_ENST00000542776.1_5'UTR|POP5_ENST00000357500.4_In_Frame_Del_p.E153del	p.E103del	NM_198202.1	NP_937845.1	Q969H6	POP5_HUMAN			4	323_325	-	all_neural(191;0.077)|Medulloblastoma(191;0.0922)		153					A6NL80|Q53FS5|Q9Y2Q6	In_Frame_Del	DEL	ENST00000357500.4	37	c.307_309delGAG	CCDS9202.1																																																																																				0.517	POP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401993.1	NM_015918		10	641						10	641	---	---	---	---
EP400	57634	broad.mit.edu	37	12	132547093	132547094	+	In_Frame_Ins	INS	-	-	CAG	rs10902490|rs113304321|rs528214697	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr12:132547093_132547094insCAG	ENST00000333577.4	+	48	8398_8399	c.8289_8290insCAG	c.(8290-8292)cag>CAGcag	p.2764_2764Q>QQ	EP400_ENST00000389562.2_In_Frame_Ins_p.2727_2727Q>QQ|EP400_ENST00000330386.6_In_Frame_Ins_p.2647_2647Q>QQ|EP400_ENST00000389561.2_In_Frame_Ins_p.2728_2728Q>QQ|EP400_ENST00000332482.4_In_Frame_Ins_p.2691_2691Q>QQ			Q96L91	EP400_HUMAN	E1A binding protein p400	2764	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2726Q(9)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagca	0.564														1869	0.373203	0.3427	0.513	5008	,	,		15674	0.2391		0.4722	False		,,,				2504	0.3517					ENST00000333577.4																			9	Substitution - coding silent(9)	p.Q2726Q(9)	lung(3)|kidney(2)|endometrium(2)|central_nervous_system(2)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8287-8292)caagca>caCAGagca		E1A binding protein p400																																				SO:0001652	inframe_insertion	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547093_132547094insCAG	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8329_8331dupCAG	12.37:g.132547100_132547102dupCAG	ENSP00000333602:p.Gln2784dup					EP400_ENST00000389561.2_In_Frame_Ins_p.2727_2727Q>HR|EP400_ENST00000389562.2_In_Frame_Ins_p.2726_2726Q>HR|EP400_ENST00000332482.4_In_Frame_Ins_p.2690_2690Q>HR|EP400_ENST00000330386.6_In_Frame_Ins_p.2646_2646Q>HR	p.2763_2763Q>HR			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8398_8399	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2763			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	In_Frame_Ins	INS	ENST00000333577.4	37	c.8289_8290insCAG																																																																																					0.564	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		63	342						63	342	---	---	---	---
TPTE2P1	646405	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG	rs375560921|rs201773491	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282							Q5T6R2	TPT2L_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 pseudogene 1																		AGGAAGGTTCTAAAAAAAATTT	0.252														9	0.00179712	0.0008	0.0014	5008	,	,		20326	0.004		0.003	False		,,,				2504	0.0					ENST00000429698.1																			0																																																			0							g.chr13:25527490_25527491insAAAAAG			13q12.12-q12.13	2012-10-03			ENSG00000253771	ENSG00000253771			35196	pseudogene	pseudogene							Standard	NR_026730		Approved		uc010tdh.2	Q5T6R2	OTTHUMG00000016596		13.37:g.25527490_25527491insAAAAAG														0	282	-								B3KST4|B4DMH9	RNA	INS	ENST00000429698.1	37																																																																																						0.252	TPTE2P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044206.1			14	25						14	25	---	---	---	---
EEF1DP3	196549	broad.mit.edu	37	13	32527507	32527508	+	RNA	DEL	GT	GT	-	rs369428918		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:32527507_32527508delGT	ENST00000428783.1	+	0	1207_1208							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										TCTGGCCTGAGTGTGTGTGTGT	0.46																																						ENST00000428783.1																			0																																																			0							g.chr13:32527507_32527508delGT			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527517_32527518delGT														0	1207_1208	+								Q08AR3	RNA	DEL	ENST00000428783.1	37																																																																																						0.460	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		7	288						7	288	---	---	---	---
TSC22D1	8848	broad.mit.edu	37	13	45148691	45148693	+	In_Frame_Del	DEL	TGT	TGT	-	rs148625973|rs541782956	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:45148691_45148693delTGT	ENST00000458659.2	-	1	2008_2010	c.1518_1520delACA	c.(1516-1521)caacag>cag	p.506_507QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.506_507QQ>Q|TSC22D1_ENST00000460842.1_5'Flank	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	506	Gln-rich.				negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TGgttgttgctgttgttgttgtt	0.502														87	0.0173722	0.0598	0.0086	5008	,	,		24285	0.0		0.0	False		,,,				2504	0.002					ENST00000458659.2																			0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1516-1521)cag>ca		TSC22 domain family, member 1																																				SO:0001651	inframe_deletion	8848				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr13:45148691_45148693delTGT	AJ222700	CCDS9392.1, CCDS31966.1, CCDS58291.1, CCDS73565.1	13q14	2008-02-05	2005-03-01	2005-03-03	ENSG00000102804	ENSG00000102804			16826	protein-coding gene	gene with protein product		607715	"""transforming growth factor beta 1 induced transcript 4"""	TGFB1I4		8651929, 9022669	Standard	NM_183422		Approved	TSC22, MGC17597	uc001uzn.4	Q15714	OTTHUMG00000016838	ENST00000458659.2:c.1518_1520delACA	13.37:g.45148700_45148702delTGT	ENSP00000397435:p.Gln509del					TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ508del	p.QQ508del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)	1	2008_2010	-		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)	508			Gln-rich.		B3KRL7|B9EGI0|O00666|Q6AHX5|Q6IBU1|Q8NCN1|Q96JS5	In_Frame_Del	DEL	ENST00000458659.2	37	c.1518_1520delACA	CCDS31966.1																																																																																				0.502	TSC22D1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044743.2	NM_006022		8	630						8	630	---	---	---	---
GPALPP1	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	GAT	-	rs138421508		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:45580365_45580367delGAT	ENST00000379151.4	+	3	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	RP11-321C24.1_ENST00000437748.2_lincRNA|GPALPP1_ENST00000357537.3_De_novo_Start_InFrame|GPALPP1_ENST00000361121.2_In_Frame_Del_p.D88del	NM_018559.2	NP_061029.2	Q8IXQ4	GPAM1_HUMAN	GPALPP motifs containing 1	88	Poly-Asp.																Ggatgatgacgatgatgatgatg	0.335																																						ENST00000361121.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12						c.(250-252)del						311,3953		154,3,1975						-7.1	0.0			182	654,7600		325,4,3798	no	coding	KIAA1704	NM_018559.2		479,7,5773	A1A1,A1R,RR		7.9234,7.2936,7.7089				965,11553				SO:0001651	inframe_deletion	0							g.chr13:45580365_45580367delGAT	AB051491	CCDS9394.1	13q14.12	2013-08-13	2013-08-12	2013-08-12	ENSG00000133114	ENSG00000133114			20298	protein-coding gene	gene with protein product			"""KIAA1704"""	KIAA1704		11214970	Standard	NM_018559		Approved	bA245H20.2, AD029, LSR7	uc001uzq.3	Q8IXQ4	OTTHUMG00000016841	ENST00000379151.4:c.250_252delGAT	13.37:g.45580374_45580376delGAT	ENSP00000368447:p.Asp88del					KIAA1704_ENST00000357537.3_De_novo_Start_InFrame|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_In_Frame_Del_p.D88del	p.D88del			Q8IXQ4	K1704_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)	3	285_287	+		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	88			Poly-Asp.		A8K8X8|Q05BX8|Q05D87|Q5T3Z3|Q5T3Z5|Q9C0F9|Q9H2R0|Q9P0W6	In_Frame_Del	DEL	ENST00000379151.4	37	c.250_252delGAT	CCDS9394.1																																																																																				0.335	GPALPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044749.2	NM_018559		8	1012						8	1012	---	---	---	---
FAM155A	728215	broad.mit.edu	37	13	108518338	108518338	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr13:108518338delC	ENST00000375915.2	-	1	745	c.607delG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCCTGCCCGTCCCCCCCGGCC	0.607																																						ENST00000375915.2																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(607-609)acfs		family with sequence similarity 155, member A							55.0	66.0	63.0					13																	108518338		2203	4300	6503	SO:0001589	frameshift_variant	728215					integral to membrane	binding	g.chr13:108518338delC	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.607delG	13.37:g.108518338delC	ENSP00000365080:p.Asp203fs						p.D203fs	NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN			1	745	-			203					B2RUV1|B7Z334	Frame_Shift_Del	DEL	ENST00000375915.2	37	c.607delG	CCDS32006.1																																																																																				0.607	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2	NM_001080396		10	845						10	845	---	---	---	---
IL25	64806	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-	rs569851542		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tgtfs	p.C168fs	CMTM5_ENST00000342473.4_5'Flank|CMTM5_ENST00000359320.3_5'Flank|CMTM5_ENST00000339180.4_5'Flank|CMTM5_ENST00000555731.1_5'Flank|CMTM5_ENST00000397227.3_5'Flank|CMTM5_ENST00000382809.2_5'Flank|IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					eosinophil differentiation (GO:0030222)|inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to fungus (GO:0009620)|response to nematode (GO:0009624)	extracellular space (GO:0005615)	interleukin-17E receptor binding (GO:0030380)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604																																						ENST00000329715.2																			0				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(502-504)tfs		interleukin 25																																				SO:0001589	frameshift_variant	0				inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding	g.chr14:23845057_23845058delTG	AF305200	CCDS9597.1, CCDS45086.1	14q11.2	2008-01-07	2006-05-17	2006-05-17	ENSG00000166090	ENSG00000166090		"""Interleukins and interleukin receptors"""	13765	protein-coding gene	gene with protein product		605658	"""interleukin 17E"""	IL17E		11058597, 11754819	Standard	NM_172314		Approved	IL-25, IL-17E	uc001wjq.3	Q9H293	OTTHUMG00000028749	ENST00000329715.2:c.502_503delTG	14.37:g.23845067_23845068delTG	ENSP00000328111:p.Cys168fs					IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	p.C168fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN		GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)	2	760_761	+	all_cancers(95;2e-05)		168					Q2M3F0|Q8IZV3|Q8WXB0	Frame_Shift_Del	DEL	ENST00000329715.2	37	c.502_503delTG	CCDS9597.1																																																																																				0.604	IL25-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071789.2			8	716						8	716	---	---	---	---
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)tccdel	p.S1468del	SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000554874.1_3'UTR	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000555818.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78						c.(4390-4392)del		signal-induced proliferation-associated 1 like 1																																				SO:0001651	inframe_deletion	26037				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity	g.chr14:72190482_72190484delTCC	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4390_4392delTCC	14.37:g.72190491_72190493delTCC	ENSP00000450832:p.Ser1468del					SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del	p.S1468del	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN		all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)	16	4738_4740	+			1468			Ser-rich.		J3KP19|O95321|Q9UDU4|Q9UNU4	In_Frame_Del	DEL	ENST00000555818.1	37	c.4390_4392delTCC	CCDS9807.1																																																																																				0.552	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556		8	737						8	737	---	---	---	---
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	GAG	-	rs139532153		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:89629149_89629151delGAG	ENST00000345097.4	-	7	1196_1198	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_ENST00000555353.1_In_Frame_Del_p.338_339SS>S|FOXN3_ENST00000261302.5_In_Frame_Del_p.360_361SS>S|FOXN3_ENST00000557258.1_In_Frame_Del_p.338_339SS>S	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN	forkhead box N3	360					mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.65																																						ENST00000345097.4																			0				endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1078-1083)tca>tc		forkhead box N3			,	89,4171		9,71,2050					,	-2.3	1.0			26	192,8028		26,140,3944	no	coding,coding	FOXN3	NM_005197.3,NM_001085471.1	,	35,211,5994	A1A1,A1R,RR		2.3358,2.0892,2.2516	,	,		281,12199				SO:0001651	inframe_deletion	1112				DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:89629149_89629151delGAG		CCDS32138.1, CCDS41977.1	14q32.11	2012-04-17	2007-05-02	2007-05-02	ENSG00000053254	ENSG00000053254		"""Forkhead boxes"""	1928	protein-coding gene	gene with protein product		602628	"""chromosome 14 open reading frame 116"", ""checkpoint suppressor 1"""	C14orf116, CHES1		9154802	Standard	NM_005197		Approved		uc001xxo.4	O00409	OTTHUMG00000170898	ENST00000345097.4:c.1080_1082delCTC	14.37:g.89629158_89629160delGAG	ENSP00000343288:p.Ser361del					FOXN3_ENST00000557258.1_In_Frame_Del_p.SS338del|FOXN3_ENST00000261302.5_In_Frame_Del_p.SS360del|FOXN3_ENST00000555353.1_In_Frame_Del_p.SS338del	p.SS360del	NM_001085471.1	NP_001078940.1	O00409	FOXN3_HUMAN			7	1196_1198	-			360					Q96II7|Q9UIE7	In_Frame_Del	DEL	ENST00000345097.4	37	c.1080_1082delCTC	CCDS41977.1																																																																																				0.650	FOXN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410902.2	NM_005197		8	263						8	263	---	---	---	---
RIN3	79890	broad.mit.edu	37	14	93118772	93118772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr14:93118772delC	ENST00000216487.7	+	6	1537	c.1378delC	c.(1378-1380)cccfs	p.P461fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	461	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CCCAGTCCCGCCCCCCAGGAA	0.622																																						ENST00000216487.7																			0				endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(1378-1380)ccfs		Ras and Rab interactor 3							91.0	115.0	107.0					14																	93118772		2203	4300	6503	SO:0001589	frameshift_variant	79890				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	g.chr14:93118772delC	BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1378delC	14.37:g.93118772delC	ENSP00000216487:p.Pro461fs					RIN3_ENST00000418924.2_3'UTR	p.P461fs	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN			6	1537	+		all_cancers(154;0.0701)	461			Pro-rich.		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Del	DEL	ENST00000216487.7	37	c.1378delC	CCDS32144.1																																																																																				0.622	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1			8	752						8	752	---	---	---	---
NIPA2	81614	broad.mit.edu	37	15	23021238	23021239	+	Frame_Shift_Ins	INS	-	-	T	rs532440024|rs145147241|rs7170838	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:23021238_23021239insT	ENST00000337451.3	-	4	710_711	c.98_99insA	c.(97-99)aagfs	p.K33fs	NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000559571.1_5'Flank|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.K33fs|NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.K33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	33						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GAAGGAGGCCCTTTTTTTTCAA	0.45																																						ENST00000337451.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15						c.(97-99)aggfs		non imprinted in Prader-Willi/Angelman syndrome 2																																				SO:0001589	frameshift_variant	81614					early endosome|integral to membrane|plasma membrane		g.chr15:23021238_23021239insT	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.99dupA	15.37:g.23021246_23021246dupT	ENSP00000337618:p.Lys33fs					NIPA2_ENST00000398014.2_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000359727.4_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000398013.3_Frame_Shift_Ins_p.R33fs|NIPA2_ENST00000539711.2_Frame_Shift_Ins_p.R33fs	p.R33fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)	4	710_711	-		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	33					F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Ins	INS	ENST00000337451.3	37	c.98_99insA	CCDS10010.1																																																																																				0.450	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922		8	617						8	617	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_ENST00000397766.2_5'Flank|EMC7_ENST00000532113.1_5'UTR	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		15	939						15	939	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45710840	45710841	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:45710840_45710841insT	ENST00000305560.6	+	7	2153_2154	c.2054_2055insT	c.(2053-2058)tgttttfs	p.CF685fs	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	685						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		GCAGAAACCTGTTTTTTTTCTG	0.361																																						ENST00000305560.6																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(2053-2055)tttfs		spermatogenesis associated 5-like 1																																				SO:0001589	frameshift_variant	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45710840_45710841insT	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.2062dupT	15.37:g.45710848_45710848dupT	ENSP00000305494:p.Cys685fs					SPATA5L1_ENST00000533841.1_3'UTR	p.F685fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	7	2153_2154	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	685					C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	ENST00000305560.6	37	c.2054_2055insT	CCDS10123.1																																																																																				0.361	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		10	364						10	364	---	---	---	---
SLTM	79811	broad.mit.edu	37	15	59182525	59182526	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:59182525_59182526delTC	ENST00000380516.2	-	15	2120_2121	c.2033_2034delGA	c.(2032-2034)agafs	p.R678fs	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	678	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCGTTCCATTCTCTCTCTCTC	0.431																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2032-2034)afs		SAFB-like, transcription modulator																																				SO:0001589	frameshift_variant	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59182525_59182526delTC	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.2033_2034delGA	15.37:g.59182535_59182536delTC	ENSP00000369887:p.Arg678fs					AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Frame_Shift_Del_p.R247fs	p.R678fs	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			15	2120_2121	-			678			Arg/Glu-rich.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Frame_Shift_Del	DEL	ENST00000380516.2	37	c.2033_2034delGA	CCDS10168.2																																																																																				0.431	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		8	713						8	713	---	---	---	---
ZNF609	23060	broad.mit.edu	37	15	64967247	64967247	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:64967247delA	ENST00000326648.3	+	4	2322	c.2194delA	c.(2194-2196)aaafs	p.K735fs		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	735	Poly-Lys.					nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.K734fs*12(1)		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						AAAGAAAGACAAAAAAAAGAA	0.488																																						ENST00000326648.3																			1	Deletion - Frameshift(1)	p.K734fs*12(1)	large_intestine(1)	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.(2194-2196)aafs		zinc finger protein 609							98.0	109.0	105.0					15																	64967247		2203	4299	6502	SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64967247delA	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.2194delA	15.37:g.64967247delA	ENSP00000316527:p.Lys735fs						p.K735fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN			4	2322	+			735			Poly-Lys.		Q0D2I2	Frame_Shift_Del	DEL	ENST00000326648.3	37	c.2194delA	CCDS32270.1																																																																																				0.488	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	XM_042833		12	1101						12	1101	---	---	---	---
MESDC2	23184	broad.mit.edu	37	15	81281974	81281976	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81281974_81281976delCTT	ENST00000261758.4	-	1	243_245	c.157_159delAAG	c.(157-159)aagdel	p.K53del	RP11-775C24.3_ENST00000563737.1_lincRNA	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	53	Chaperone domain. {ECO:0000250}.				mesoderm development (GO:0007498)|protein folding (GO:0006457)|protein localization to cell surface (GO:0034394)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGAATATCCTTCTTCTTCTTC	0.655																																						ENST00000261758.4																			0				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						c.(157-159)del		mesoderm development candidate 2																																				SO:0001651	inframe_deletion	23184				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum		g.chr15:81281974_81281976delCTT	D42039	CCDS32308.1	15q13	2008-07-18							13520	protein-coding gene	gene with protein product		607783				7788527, 11247670	Standard	NM_015154		Approved	KIAA0081, BOCA, MESD	uc002bfy.1	Q14696		ENST00000261758.4:c.157_159delAAG	15.37:g.81281983_81281985delCTT	ENSP00000261758:p.Lys53del						p.K53del	NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN			1	243_245	-			53			Chaperone domain (By similarity).		B4DW84|D3DW96|Q969U1	In_Frame_Del	DEL	ENST00000261758.4	37	c.157_159delAAG	CCDS32308.1																																																																																				0.655	MESDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417673.2	NM_015154		7	430						7	430	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81592162	81592164	+	In_Frame_Del	DEL	CCT	CCT	-	rs562825970		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:81592162_81592164delCCT	ENST00000302987.4	+	13	2495_2497	c.2495_2497delCCT	c.(2494-2499)gcctcc>gcc	p.S838del	IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.S137del|IL16_ENST00000394660.2_In_Frame_Del_p.S838del			Q14005	IL16_HUMAN	interleukin 16	838					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S792delS(1)|p.S838delS(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CACATCCGGGcctcctcctcctc	0.586																																						ENST00000394660.2																			2	Deletion - In frame(2)	p.S792delS(1)|p.S838delS(1)	large_intestine(2)	NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						c.(2494-2499)gcc>g		interleukin 16			,,	50,2,4208		3,0,44,0,2,2081					,,	3.2	0.1			40	99,6,8147		7,0,85,0,6,4028	no	codingComplex,codingComplex,codingComplex	IL16	NM_172217.3,NM_004513.5,NM_001172128.1	,,	10,0,129,0,8,6109	A1A1,A1A2,A1R,A2A2,A2R,RR		1.2724,1.2207,1.2548	,,	,,		149,8,12355				SO:0001651	inframe_deletion	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81592162_81592164delCCT	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.2495_2497delCCT	15.37:g.81592171_81592173delCCT	ENSP00000302935:p.Ser838del					IL16_ENST00000302987.4_In_Frame_Del_p.AS832del|IL16_ENST00000560230.1_3'UTR|IL16_ENST00000394652.2_In_Frame_Del_p.AS131del	p.AS832del	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN			14	2855_2857	+			832					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	In_Frame_Del	DEL	ENST00000302987.4	37	c.2495_2497delCCT	CCDS42069.1																																																																																				0.586	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		8	327						8	327	---	---	---	---
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	TGC	-	rs527965158|rs587781117|rs573261648|rs369920352	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr15:89876828_89876830delTGC	ENST00000268124.5	-	2	489_491	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	RP11-217B1.2_ENST00000569473.1_RNA|POLG_ENST00000442287.2_In_Frame_Del_p.52_53QQ>Q|POLG_ENST00000525806.1_5'Flank|RP11-217B1.2_ENST00000562356.1_RNA	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	52	Poly-Gln.				aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.69								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(154-159)caa>ca	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma																																				SO:0001651	inframe_deletion	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89876828_89876830delTGC	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.156_158delGCA	15.37:g.89876837_89876839delTGC	ENSP00000268124:p.Gln55del					POLG_ENST00000442287.2_In_Frame_Del_p.QQ54del	p.QQ54del	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		2	489_491	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		54			Poly-Gln.		Q8NFM2|Q92515	In_Frame_Del	DEL	ENST00000268124.5	37	c.156_158delGCA	CCDS10350.1																																																																																				0.690	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	NM_002693		8	142						8	142	---	---	---	---
CREBBP	1387	broad.mit.edu	37	16	3817721	3817721	+	Splice_Site	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:3817721delT	ENST00000262367.5	-	16	4059	c.3250delA	c.(3250-3252)atc>tc	p.I1084fs	CREBBP_ENST00000382070.3_Splice_Site_p.I1046fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1084					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AATGGCCTACTTTTTTTGCGC	0.398			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															ENST00000262367.5				Dom/Rec	yes		16	16p13.3	1387	"""T, N, F, Mis, O"""	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	"""MLL, MORF, RUNXBP2"""		"""ALL, AML, DLBCL, B-NHL """		0				NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295						c.e16+1		CREB binding protein							157.0	146.0	150.0					16																	3817721		2197	4300	6497	SO:0001630	splice_region_variant	1387				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3817721delT	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3250+1A>-	16.37:g.3817721delT						CREBBP_ENST00000382070.3_Splice_Site_p.I1046_splice	p.I1084_splice	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	16	4059	-		Ovarian(90;0.0266)	1084					D3DUC9|O00147|Q16376|Q4LE28	Splice_Site	DEL	ENST00000262367.5	37	c.3250_splice	CCDS10509.1																																																																																				0.398	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	Frame_Shift_Del	9	484						9	484	---	---	---	---
KNOP1	400506	broad.mit.edu	37	16	19722724	19722724	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:19722724delT	ENST00000219837.7	-	3	1035	c.957delA	c.(955-957)aaafs	p.K319fs	KNOP1_ENST00000568230.1_5'UTR|AC002550.5_ENST00000565916.1_RNA	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	319	Interaction with ZNF106. {ECO:0000250}.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G320fs*5(1)|p.K319N(1)									CCATGTTGCCTTTTTTTTCCA	0.562																																						ENST00000219837.7																			2	Substitution - Missense(1)|Insertion - Frameshift(1)	p.G320fs*5(1)|p.K319N(1)	large_intestine(1)|lung(1)								c.(955-957)aafs		lysine-rich nucleolar protein 1				8,4200		0,8,2096	224.0	244.0	237.0			3.5	0.9	16		241	11,8211		0,11,4100	no	frameshift	C16orf88	NM_001012991.2		0,19,6196	A1A1,A1R,RR		0.1338,0.1901,0.1529			19722724	19,12411	2184	4291	6475	SO:0001589	frameshift_variant	400506							g.chr16:19722724delT	BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.957delA	16.37:g.19722724delT	ENSP00000219837:p.Lys319fs					AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'UTR	p.K319fs	NM_001012991.2	NP_001013009.2					3	1035	-								O43328|Q5FWF3	Frame_Shift_Del	DEL	ENST00000219837.7	37	c.957delA	CCDS42127.1																																																																																				0.562	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435993.2	NM_001012991		7	771						7	771	---	---	---	---
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aaafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398																																						ENST00000395799.3																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3541-3543)aafs		trinucleotide repeat containing 6A							243.0	224.0	231.0					16																	24807240		2197	4300	6497	SO:0001589	frameshift_variant	27327				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding	g.chr16:24807240delA	U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.3541delA	16.37:g.24807240delA	ENSP00000379144:p.Lys1182fs					TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN		GBM - Glioblastoma multiforme(48;0.0394)	9	3670	+			1182			Sufficient for interaction with EIF2C1 and EIF2C4.		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Frame_Shift_Del	DEL	ENST00000395799.3	37	c.3541delA	CCDS10624.2																																																																																				0.398	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214081.1	NM_020847		8	786						8	786	---	---	---	---
ARHGAP17	55114	broad.mit.edu	37	16	24942180	24942180	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:24942180delG	ENST00000289968.6	-	19	2509	c.2440delC	c.(2440-2442)caafs	p.Q814fs	ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	814	Pro-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		CCAGGAGGTTGGGGGGGTGGG	0.577																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2440-2442)aafs		Rho GTPase activating protein 17							114.0	128.0	123.0					16																	24942180		2197	4300	6497	SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942180delG	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2440delC	16.37:g.24942180delG	ENSP00000289968:p.Gln814fs					ARHGAP17_ENST00000441763.2_3'UTR|ARHGAP17_ENST00000303665.5_Frame_Shift_Del_p.Q736fs	p.Q814fs	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2509	-			814			Pro-rich.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Del	DEL	ENST00000289968.6	37	c.2440delC	CCDS32409.1																																																																																				0.577	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		10	1077						10	1077	---	---	---	---
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626																																						ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(784-786)del		iroquois homeobox 6																																				SO:0001651	inframe_deletion	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55362674_55362676delGAG	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.784_786delGAG	16.37:g.55362683_55362685delGAG	ENSP00000290552:p.Glu268del					RP11-26L20.3_ENST00000558730.2_RNA	p.E268del	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			5	2116_2118	+			268					B2RN06|Q7Z2K0	In_Frame_Del	DEL	ENST00000290552.7	37	c.784_786delGAG	CCDS32449.1																																																																																				0.626	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		15	351						15	351	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			8	29						8	29	---	---	---	---
SPG7	6687	broad.mit.edu	37	16	89613072	89613073	+	Frame_Shift_Ins	INS	-	-	G	rs111475461	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr16:89613072_89613073insG	ENST00000268704.2	+	11	1471_1472	c.1456_1457insG	c.(1456-1458)cggfs	p.R486fs		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	486			R -> Q (in dbSNP:rs111475461).		anterograde axon cargo transport (GO:0008089)|cell death (GO:0008219)|mitochondrion organization (GO:0007005)|nervous system development (GO:0007399)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metalloendopeptidase activity (GO:0004222)|peptidase activity (GO:0008233)|unfolded protein binding (GO:0051082)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		GCAGGAGAGGCGGGAGATTTTT	0.594																																						ENST00000268704.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20						c.(1456-1458)ggafs		spastic paraplegia 7 (pure and complicated autosomal recessive)																																				SO:0001589	frameshift_variant	6687				cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding	g.chr16:89613072_89613073insG	Y16610	CCDS10977.1, CCDS10978.1	16q24.3	2010-04-21	2007-04-23		ENSG00000197912	ENSG00000197912		"""ATPases / AAA-type"""	11237	protein-coding gene	gene with protein product	"""paraplegin"""	602783	"""cell matrix adhesion regulator"""	CMAR		9635427, 9634528	Standard	XM_006721264		Approved	CAR, SPG5C	uc002fnj.3	Q9UQ90	OTTHUMG00000138046	ENST00000268704.2:c.1459dupG	16.37:g.89613075_89613075dupG	ENSP00000268704:p.Arg486fs						p.G486fs	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)	11	1471_1472	+		all_hematologic(23;0.00824)|Colorectal(91;0.102)	486		R -> Q.			O75756|Q2TB70|Q58F00|Q96IB0	Frame_Shift_Ins	INS	ENST00000268704.2	37	c.1456_1457insG	CCDS10977.1																																																																																				0.594	SPG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269921.2	NM_003119		27	999						27	999	---	---	---	---
INCA1	388324	broad.mit.edu	37	17	4892795	4892795	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:4892795delC	ENST00000574617.1	-	6	678	c.323delG	c.(322-324)ggafs	p.G108fs	INCA1_ENST00000396829.2_Frame_Shift_Del_p.G108fs|RP5-1050D4.5_ENST00000574260.1_RNA|CAMTA2_ENST00000572543.1_5'Flank|INCA1_ENST00000355025.3_Frame_Shift_Del_p.G93fs|RP5-1050D4.4_ENST00000575985.1_RNA|CAMTA2_ENST00000414043.3_5'Flank|CAMTA2_ENST00000348066.3_5'Flank|INCA1_ENST00000575780.1_Frame_Shift_Del_p.G93fs|INCA1_ENST00000576820.1_Frame_Shift_Del_p.G108fs|CAMTA2_ENST00000358183.4_5'Flank|CAMTA2_ENST00000361571.5_5'Flank|CAMTA2_ENST00000381311.5_5'Flank			Q0VD86	INCA1_HUMAN	inhibitor of CDK, cyclin A1 interacting protein 1	108					negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)			upper_aerodigestive_tract(1)	1						GGCGGGGACTCCCCCAAGGCC	0.572																																						ENST00000396829.2																			0				upper_aerodigestive_tract(1)	1						c.(322-324)gafs		inhibitor of CDK, cyclin A1 interacting protein 1							142.0	160.0	154.0					17																	4892795		2203	4300	6503	SO:0001589	frameshift_variant	388324					nucleus		g.chr17:4892795delC	AY601906, AAT09152	CCDS11064.1, CCDS54074.1	17p13.2	2010-03-19	2009-04-20		ENSG00000196388	ENSG00000196388			32224	protein-coding gene	gene with protein product						15159402, 18756329	Standard	NM_213726		Approved		uc002gak.3	Q0VD86		ENST00000574617.1:c.323delG	17.37:g.4892795delC	ENSP00000458316:p.Gly108fs					INCA1_ENST00000355025.3_Frame_Shift_Del_p.G93fs|INCA1_ENST00000575780.1_Frame_Shift_Del_p.G93fs|INCA1_ENST00000574617.1_Frame_Shift_Del_p.G108fs|INCA1_ENST00000576820.1_Frame_Shift_Del_p.G108fs	p.G108fs	NM_001167986.1	NP_001161458.1	Q0VD86	INCA1_HUMAN			7	889	-			108					Q6J273|Q6PKN9	Frame_Shift_Del	DEL	ENST00000574617.1	37	c.323delG	CCDS54074.1																																																																																				0.572	INCA1-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438886.1	NM_213726		7	1301						7	1301	---	---	---	---
GIT1	28964	broad.mit.edu	37	17	27903281	27903281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:27903281delG	ENST00000225394.3	-	14	1816	c.1568delC	c.(1567-1569)cctfs	p.P523fs	GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	523					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		CTCGTCCCCAGGGGGGCCCCC	0.652																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(1567-1569)ctfs		G protein-coupled receptor kinase interacting ArfGAP 1							63.0	71.0	68.0					17																	27903281		2203	4300	6503	SO:0001589	frameshift_variant	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27903281delG	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.1568delC	17.37:g.27903281delG	ENSP00000225394:p.Pro523fs					RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Frame_Shift_Del_p.P532fs|GIT1_ENST00000581348.1_Frame_Shift_Del_p.P532fs|GIT1_ENST00000579937.1_Frame_Shift_Del_p.P523fs	p.P523fs	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	14	1816	-			523					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Frame_Shift_Del	DEL	ENST00000225394.3	37	c.1568delC	CCDS11250.1																																																																																				0.652	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		7	809						7	809	---	---	---	---
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)tttfs	p.F185fs	SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000460530.1_5'Flank|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding (GO:0005524)			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368																																						ENST00000394562.1																			0				breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						c.(553-555)ttfs		schlafen family member 12							55.0	59.0	58.0					17																	33749493		2183	4295	6478	SO:0001589	frameshift_variant	55106						ATP binding	g.chr17:33749493delA	AK001122	CCDS11295.1	17q12	2006-04-05			ENSG00000172123	ENSG00000172123			25500	protein-coding gene	gene with protein product		614955				12477932	Standard	NM_018042		Approved	FLJ10260	uc002hji.4	Q8IYM2	OTTHUMG00000132952	ENST00000394562.1:c.555delT	17.37:g.33749493delA	ENSP00000378063:p.Phe185fs					SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs	p.F185fs			Q8IYM2	SLN12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	1078	-		Ovarian(249;0.17)	185					A8K711|Q9NP47	Frame_Shift_Del	DEL	ENST00000394562.1	37	c.555delT	CCDS11295.1																																																																																				0.368	SLFN12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256491.1	NM_018042		7	360						7	360	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34071994	34071996	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:34071994_34071996delTCC	ENST00000254466.6	-	6	2547_2549	c.2520_2522delGGA	c.(2518-2523)gaggaa>gaa	p.840_841EE>E	GAS2L2_ENST00000587565.1_In_Frame_Del_p.824_825EE>E	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	840					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ctcctttccttcctcctcctcct	0.616																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(2518-2523)gaa>ga		growth arrest-specific 2 like 2																																				SO:0001651	inframe_deletion	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34071994_34071996delTCC	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2520_2522delGGA	17.37:g.34072003_34072005delTCC	ENSP00000254466:p.Glu841del					GAS2L2_ENST00000587565.1_In_Frame_Del_p.EE824del	p.EE840del	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	6	2547_2549	-		Ovarian(249;0.17)	840					Q8NHY4	In_Frame_Del	DEL	ENST00000254466.6	37	c.2520_2522delGGA	CCDS11298.1																																																																																				0.616	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		9	344						9	344	---	---	---	---
CDK12	51755	broad.mit.edu	37	17	37687472	37687472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:37687472delG	ENST00000447079.4	+	14	4409	c.4376delG	c.(4375-4377)tggfs	p.W1459fs	CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1459					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GGCCTTCACTGGGGGGGCCCA	0.562			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(4375-4377)tgfs		cyclin-dependent kinase 12							42.0	49.0	47.0					17																	37687472		2198	4293	6491	SO:0001589	frameshift_variant	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37687472delG	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.4376delG	17.37:g.37687472delG	ENSP00000398880:p.Trp1459fs	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Frame_Shift_Del_p.W1450fs	p.W1459fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			14	4409	+			1459					A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Del	DEL	ENST00000447079.4	37	c.4376delG	CCDS11337.1																																																																																				0.562	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		7	562						7	562	---	---	---	---
CCDC103	388389	broad.mit.edu	37	17	42980014	42980015	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:42980014_42980015delAG	ENST00000417826.2	+	4	653_654	c.558_559delAG	c.(556-561)gcagagfs	p.E187fs	FAM187A_ENST00000412523.2_Intron|FAM187A_ENST00000331733.4_5'UTR|EFTUD2_ENST00000426333.2_5'Flank|AC015936.3_ENST00000441312.1_RNA|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.E187fs	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN	coiled-coil domain containing 103	187					axonemal dynein complex assembly (GO:0070286)|cell projection organization (GO:0030030)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|outer dynein arm assembly (GO:0036158)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)	protein homodimerization activity (GO:0042803)	p.E187K(1)		endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7		Prostate(33;0.109)				TGAGCCGGGCAGAGAGAGAGAG	0.644																																						ENST00000417826.2																			1	Substitution - Missense(1)	p.E187K(1)	large_intestine(1)	endometrium(1)|kidney(1)|large_intestine(3)|prostate(1)|skin(1)	7						c.(556-561)gcagfs		coiled-coil domain containing 103																																				SO:0001589	frameshift_variant	388389							g.chr17:42980014_42980015delAG	AK023156	CCDS11490.1, CCDS58554.1	17q21.31	2013-02-22			ENSG00000167131	ENSG00000167131			32700	protein-coding gene	gene with protein product		614677				22581229	Standard	NM_213607		Approved	FLJ13094, FLJ34211, PR46b, CILD17	uc031ray.1	Q8IW40	OTTHUMG00000154264	ENST00000417826.2:c.558_559delAG	17.37:g.42980024_42980025delAG	ENSP00000391692:p.Glu187fs					FAM187A_ENST00000331733.4_5'UTR|CCDC103_ENST00000410006.2_Frame_Shift_Del_p.AE186fs|FAM187A_ENST00000412523.2_Intron	p.AE186fs	NM_001258399.1|NM_213607.2	NP_001245328.1|NP_998772.1	Q8IW40	CC103_HUMAN			4	653_654	+		Prostate(33;0.109)	186					A8K145|B8ZZU0	Frame_Shift_Del	DEL	ENST00000417826.2	37	c.558_559delAG	CCDS11490.1																																																																																				0.644	CCDC103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334578.1	NM_213607		8	347						8	347	---	---	---	---
CDC27	996	broad.mit.edu	37	17	45219355	45219355	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:45219355delC	ENST00000066544.3	-	12	1508	c.1415delG	c.(1414-1416)ggtfs	p.G472fs	CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	472					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AGCTAAATAACCTTTCCCCAT	0.368																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1414-1416)gtfs		cell division cycle 27							83.0	89.0	87.0					17																	45219355		2201	4298	6499	SO:0001589	frameshift_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45219355delC	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1415delG	17.37:g.45219355delC	ENSP00000066544:p.Gly472fs					CDC27_ENST00000446365.2_Frame_Shift_Del_p.G411fs|CDC27_ENST00000527547.1_Frame_Shift_Del_p.G471fs|CDC27_ENST00000531206.1_Frame_Shift_Del_p.G478fs	p.G472fs	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			12	1508	-			472					G3V1C4|Q16349|Q96F35	Frame_Shift_Del	DEL	ENST00000066544.3	37	c.1415delG	CCDS11509.1																																																																																				0.368	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			11	648						11	648	---	---	---	---
LOC101927755	101927755	broad.mit.edu	37	17	58066608	58066608	+	lincRNA	DEL	T	T	-	rs200816848		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:58066608delT	ENST00000586209.1	+	0	158																											TTGATTGTGATTTTTTTTTTT	0.313																																						ENST00000586209.1																			0																																																			0							g.chr17:58066608delT																													17.37:g.58066608delT														0	158	+									RNA	DEL	ENST00000586209.1	37																																																																																						0.313	RP11-178C3.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449162.1			5	9						5	9	---	---	---	---
TEX2	55852	broad.mit.edu	37	17	62291438	62291440	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:62291438_62291440delTCC	ENST00000583097.1	-	2	310_312	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	TEX2_ENST00000258991.3_In_Frame_Del_p.46_47EE>E|TEX2_ENST00000584379.1_In_Frame_Del_p.46_47EE>E			Q8IWB9	TEX2_HUMAN	testis expressed 2	46	Poly-Glu.				signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		ctcctcctcttcctcctcctcct	0.552																																						ENST00000258991.3																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(136-141)gaa>ga		testis expressed 2																																				SO:0001651	inframe_deletion	55852				signal transduction|sphingolipid metabolic process	integral to membrane		g.chr17:62291438_62291440delTCC	AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.138_140delGGA	17.37:g.62291447_62291449delTCC	ENSP00000462665:p.Glu51del					TEX2_ENST00000584379.1_In_Frame_Del_p.EE50del|TEX2_ENST00000583097.1_In_Frame_Del_p.EE50del	p.EE50del			Q8IWB9	TEX2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)	2	222_224	-			50			Poly-Glu.		Q6AHZ5|Q8N3L0|Q9C0C5	In_Frame_Del	DEL	ENST00000583097.1	37	c.138_140delGGA																																																																																					0.552	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000443745.1	NM_018469		8	523						8	523	---	---	---	---
DDX5	1655	broad.mit.edu	37	17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:62496298delT	ENST00000225792.5	-	13	1989	c.1588delA	c.(1588-1590)actfs	p.T530fs	MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	530	Transactivation domain.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	ENST00000225792.5				Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19						c.(1588-1590)ctfs		DEAD (Asp-Glu-Ala-Asp) box helicase 5							135.0	141.0	139.0					17																	62496298		2203	4300	6503	SO:0001589	frameshift_variant	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62496298delT	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1588delA	17.37:g.62496298delT	ENSP00000225792:p.Thr530fs					DDX5_ENST00000578804.1_Frame_Shift_Del_p.T530fs|DDX5_ENST00000580026.1_5'UTR|DDX5_ENST00000450599.2_Frame_Shift_Del_p.T451fs	p.T530fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		13	1989	-	Breast(5;2.15e-14)		530					B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Frame_Shift_Del	DEL	ENST00000225792.5	37	c.1588delA	CCDS11659.1																																																																																				0.413	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1	NM_004396		8	997						8	997	---	---	---	---
CDC42EP4	23580	broad.mit.edu	37	17	71281585	71281587	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:71281585_71281587delTCC	ENST00000335793.3	-	2	1447_1449	c.1053_1055delGGA	c.(1051-1056)gaggat>gat	p.E351del	CDC42EP4_ENST00000439510.2_In_Frame_Del_p.E281del|CDC42EP4_ENST00000581014.1_3'UTR			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	351					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	GTP-Rho binding (GO:0017049)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			ACGGATTTCATCCTCCTCCTCCT	0.64																																						ENST00000335793.3																			0				cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14						c.(1051-1056)gat>ga		CDC42 effector protein (Rho GTPase binding) 4																																				SO:0001651	inframe_deletion	23580				positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding	g.chr17:71281585_71281587delTCC	AB042237	CCDS11695.1	17q24-q25	2008-07-18				ENSG00000179604			17147	protein-coding gene	gene with protein product	"""Cdc42 effector protein 4"", ""binder of Rho GTPases 4"""	605468				11035016, 10490598	Standard	NM_012121		Approved	CEP4, KAIA1777, BORG4, MGC3740, MGC17125	uc002jjo.3	Q9H3Q1		ENST00000335793.3:c.1053_1055delGGA	17.37:g.71281594_71281596delTCC	ENSP00000338258:p.Glu351del					CDC42EP4_ENST00000581014.1_3'UTR|CDC42EP4_ENST00000439510.2_In_Frame_Del_p.ED281del	p.ED351del			Q9H3Q1	BORG4_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)		2	1447_1449	-			351					B3KUS7|O95828|Q96FT3	In_Frame_Del	DEL	ENST00000335793.3	37	c.1053_1055delGGA	CCDS11695.1																																																																																				0.640	CDC42EP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441898.1	NM_012121		7	703						7	703	---	---	---	---
CARD14	79092	broad.mit.edu	37	17	78172300	78172301	+	Frame_Shift_Ins	INS	-	-	G	rs372197132|rs200610907		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr17:78172300_78172301insG	ENST00000573882.1	+	15	2297_2298	c.1761_1762insG	c.(1762-1764)gggfs	p.G588fs	RP11-334C17.5_ENST00000570309.1_RNA|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.G588fs|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.G351fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.G588fs			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	588	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCGTCATCGGCGGGAACCTCAC	0.678																																						ENST00000573882.1																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23						c.(1759-1764)ggggaafs		caspase recruitment domain family, member 14																																				SO:0001589	frameshift_variant	79092				activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding	g.chr17:78172300_78172301insG	AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.1764dupG	17.37:g.78172303_78172303dupG	ENSP00000458715:p.Gly588fs					CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Frame_Shift_Ins_p.E351fs|CARD14_ENST00000570421.1_Frame_Shift_Ins_p.E588fs|CARD14_ENST00000344227.2_Frame_Shift_Ins_p.E588fs	p.E588fs			Q9BXL6	CAR14_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		15	2297_2298	+	all_neural(118;0.0952)		588			PDZ.		B8QQJ3|Q9BVB5	Frame_Shift_Ins	INS	ENST00000573882.1	37	c.1761_1762insG	CCDS11768.1																																																																																				0.678	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437507.1			13	646						13	646	---	---	---	---
CYP4F3	4051	broad.mit.edu	37	19	15769322	15769322	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:15769322delT	ENST00000221307.8	+	11	1318	c.1271delT	c.(1270-1272)gttfs	p.V424fs	CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000586182.2_Frame_Shift_Del_p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	424					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTCATCAGTGTTTTTGGAACC	0.622																																						ENST00000221307.7																			0				endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						c.(1270-1272)gtfs		cytochrome P450, family 4, subfamily F, polypeptide 3							139.0	148.0	145.0					19																	15769322		2203	4300	6503	SO:0001589	frameshift_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769322delT	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1271delT	19.37:g.15769322delT	ENSP00000221307:p.Val424fs					CYP4F3_ENST00000586182.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000585846.1_Frame_Shift_Del_p.V424fs|CYP4F3_ENST00000591058.1_Frame_Shift_Del_p.V424fs	p.V424fs	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN			11	1319	+			424					B7Z8Z3|O60634|Q5U740	Frame_Shift_Del	DEL	ENST00000221307.8	37	c.1271delT	CCDS12332.1																																																																																				0.622	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		9	1511						9	1511	---	---	---	---
CIB3	117286	broad.mit.edu	37	19	16275653	16275654	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:16275653_16275654insC	ENST00000269878.4	-	5	466_467	c.417_418insG	c.(415-420)gggctgfs	p.L140fs	CIB3_ENST00000379859.3_Frame_Shift_Ins_p.L91fs|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	140							calcium ion binding (GO:0005509)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						TCGGCACTCAGCCCCCCCCGCG	0.564																																						ENST00000269878.4																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						c.(415-420)ggtgagfs		calcium and integrin binding family member 3																																				SO:0001589	frameshift_variant	117286						calcium ion binding	g.chr19:16275653_16275654insC	AB050868	CCDS12340.1, CCDS74305.1	19p13.12	2013-01-10						"""EF-hand domain containing"""	24580	protein-coding gene	gene with protein product		610645					Standard	XM_005259728		Approved	KIP3	uc002nds.3	Q96Q77		ENST00000269878.4:c.418dupG	19.37:g.16275661_16275661dupC	ENSP00000269878:p.Leu140fs					CIB3_ENST00000541493.1_5'UTR|CIB3_ENST00000379859.3_Frame_Shift_Ins_p.E91fs	p.E140fs	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN			5	466_467	-			140					E7EUX1|Q2M1W0|Q6ISP1	Frame_Shift_Ins	INS	ENST00000269878.4	37	c.417_418insG	CCDS12340.1																																																																																				0.564	CIB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460351.1	NM_054113		10	657						10	657	---	---	---	---
MYO9B	4650	broad.mit.edu	37	19	17311567	17311568	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:17311567_17311568insG	ENST00000594824.1	+	26	4639_4640	c.4492_4493insG	c.(4492-4494)cggfs	p.R1498fs	MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.R1498fs|MYO9B_ENST00000595618.1_Frame_Shift_Ins_p.R1498fs			Q13459	MYO9B_HUMAN	myosin IXB	1498	Tail.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGAGAAGTGGCGGGAATCGGTG	0.559																																						ENST00000595618.1																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						c.(4492-4494)ggafs		myosin IXB			,	11,4067		0,11,2028					,	3.7	1.0			148	21,8099		0,21,4039	no	frameshift,frameshift	MYO9B	NM_004145.3,NM_001130065.1	,	0,32,6067	A1A1,A1R,RR		0.2586,0.2697,0.2623	,	,		32,12166				SO:0001589	frameshift_variant	4650				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity	g.chr19:17311567_17311568insG		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.4495dupG	19.37:g.17311570_17311570dupG	ENSP00000471367:p.Arg1498fs					MYO9B_ENST00000594824.1_Frame_Shift_Ins_p.G1498fs|MYO9B_ENST00000397274.2_Frame_Shift_Ins_p.G1498fs	p.G1498fs	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN			26	4644_4645	+			1498			Tail.		O75314|Q9NUJ2|Q9UHN0	Frame_Shift_Ins	INS	ENST00000594824.1	37	c.4492_4493insG																																																																																					0.559	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1			13	779						13	779	---	---	---	---
C19orf12	83636	broad.mit.edu	37	19	30193878	30193879	+	Frame_Shift_Ins	INS	-	-	C	rs398122409		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:30193878_30193879insC	ENST00000392278.2	-	3	325_326	c.199_200insG	c.(199-201)gctfs	p.A67fs	C19orf12_ENST00000323670.9_Frame_Shift_Ins_p.A56fs|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.A56fs|C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000392275.1_5'UTR	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	67					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CCCCCCGACAGCCCCCCCTAGA	0.525																																						ENST00000323670.9																			0											c.(166-168)tgtfs		chromosome 19 open reading frame 12																																				SO:0001589	frameshift_variant	83636					integral to membrane		g.chr19:30193878_30193879insC	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.200dupG	19.37:g.30193885_30193885dupC	ENSP00000376103:p.Ala67fs					C19orf12_ENST00000392276.1_5'UTR|C19orf12_ENST00000592153.1_Frame_Shift_Ins_p.C56fs|C19orf12_ENST00000392275.1_5'UTR|C19orf12_ENST00000392278.2_Frame_Shift_Ins_p.C67fs	p.C56fs	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		3	305_306	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		56					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Frame_Shift_Ins	INS	ENST00000392278.2	37	c.166_167insG	CCDS42542.1																																																																																				0.525	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		8	771						8	771	---	---	---	---
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-	rs373178250		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)ctcdel	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.64																																						ENST00000598398.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4						c.(40-42)del		hepcidin antimicrobial peptide																																				SO:0001651	inframe_deletion	57817				defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity	g.chr19:35773520_35773522delCTC	AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.40_42delCTC	19.37:g.35773529_35773531delCTC	ENSP00000471894:p.Leu18del					HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		2	336_338	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		18					Q1HE14|Q9BY68	In_Frame_Del	DEL	ENST00000598398.1	37	c.40_42delCTC	CCDS12454.1																																																																																				0.640	HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175		13	1163						13	1163	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753020	42753021	+	Frame_Shift_Ins	INS	-	-	C	rs139842507	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:42753020_42753021insC	ENST00000222329.4	-	4	1400_1401	c.1243_1244insG	c.(1243-1245)gcgfs	p.A415fs	ERF_ENST00000440177.2_Frame_Shift_Ins_p.A340fs|AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	415					cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				TGGGGCTAGCGCCCCTGCCCCC	0.688																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1243-1245)gctfs		Ets2 repressor factor																																				SO:0001589	frameshift_variant	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753020_42753021insC	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1244dupG	19.37:g.42753024_42753024dupC	ENSP00000222329:p.Ala415fs					ERF_ENST00000440177.2_Frame_Shift_Ins_p.A340fs|AC006486.9_ENST00000594664.1_Intron	p.A415fs	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1400_1401	-		Prostate(69;0.00682)	415					B2RAP1|B7Z4R0|Q59G38|Q9UPI7	Frame_Shift_Ins	INS	ENST00000222329.4	37	c.1243_1244insG	CCDS12600.1																																																																																				0.688	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		9	502						9	502	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	Intron	DEL	GAG	GAG	-	rs558397688	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		9	138						9	138	---	---	---	---
CGB	1082	broad.mit.edu	37	19	49526203	49526203	+	Frame_Shift_Del	DEL	G	G	-	rs17852109		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:49526203delG	ENST00000357383.4	-	3	799	c.438delC	c.(436-438)cccfs	p.P146fs		NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide	146					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|peptide hormone processing (GO:0016486)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTGGAAGGCTGGGGGGAGGGG	0.647																																						ENST00000357383.4																			0				large_intestine(1)	1						c.(436-438)ccfs		chorionic gonadotropin, beta polypeptide	Choriogonadotropin alfa(DB00097)						21.0	20.0	20.0					19																	49526203		2145	4225	6370	SO:0001589	frameshift_variant	1082				apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	g.chr19:49526203delG	J00117	CCDS12749.1	19q13.3	2013-02-25				ENSG00000104827		"""Endogenous ligands"""	1886	protein-coding gene	gene with protein product		118860				6774259, 6194155	Standard	NM_000737		Approved	CGB3	uc002plv.2	P01233		ENST00000357383.4:c.438delC	19.37:g.49526203delG	ENSP00000349954:p.Pro146fs						p.P146fs	NM_000737.3	NP_000728.1	P01233	CGHB_HUMAN		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	3	799	-		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	146					A1A5E0|B9ZVP5|Q13991|Q14000|Q3KPI3|Q3SY41|Q8WTT5|Q8WXL1|Q8WXL2|Q8WXL3|Q8WXL4	Frame_Shift_Del	DEL	ENST00000357383.4	37	c.438delC	CCDS12749.1																																																																																				0.647	CGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452164.2	NM_000737		10	773						10	773	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	AC006942.4_ENST00000600669.1_RNA|FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	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_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	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		10	300						10	300	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_In_Frame_Del_p.E61del	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			9	481						9	481	---	---	---	---
LILRB1	10859	broad.mit.edu	37	19	55146148	55146150	+	In_Frame_Del	DEL	CTC	CTC	-	rs543059448	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr19:55146148_55146150delCTC	ENST00000396331.1	+	11	1774_1776	c.1417_1419delCTC	c.(1417-1419)ctcdel	p.L479del	LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	479					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAtcctactgctcctcctcctcc	0.581										HNSCC(37;0.09)				8	0.00159744	0.0023	0.0014	5008	,	,		18237	0.002		0.001	False		,,,				2504	0.001					ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(1417-1419)del		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1			,,,	21,4241		0,21,2110					,,,	0.7	0.0			137	49,8205		0,49,4078	no	coding,coding,coding,coding	LILRB1	NM_006669.3,NM_001081639.1,NM_001081638.1,NM_001081637.1	,,,	0,70,6188	A1A1,A1R,RR		0.5937,0.4927,0.5593	,,,	,,,		70,12446				SO:0001651	inframe_deletion	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55146148_55146150delCTC	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1417_1419delCTC	19.37:g.55146157_55146159delCTC	ENSP00000379622:p.Leu479del	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_In_Frame_Del_p.L479del|LILRB1_ENST00000418536.2_In_Frame_Del_p.L463del|LILRB1_ENST00000396315.1_In_Frame_Del_p.L480del|LILRB1_ENST00000324602.7_In_Frame_Del_p.L480del|LILRB1_ENST00000434867.2_In_Frame_Del_p.L479del|LILRB1_ENST00000396327.3_In_Frame_Del_p.L480del|LILRB1_ENST00000396317.1_In_Frame_Del_p.L463del|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396321.2_In_Frame_Del_p.L479del|LILRB1_ENST00000427581.2_In_Frame_Del_p.L529del|LILRB1_ENST00000396332.4_In_Frame_Del_p.L479del	p.L479del	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	11	1774_1776	+			479					A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	In_Frame_Del	DEL	ENST00000396331.1	37	c.1417_1419delCTC	CCDS42617.1																																																																																				0.581	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			10	370						10	370	---	---	---	---
PANK2	80025	broad.mit.edu	37	20	3893120	3893120	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:3893120delT	ENST00000316562.4	+	4	1257	c.1251delT	c.(1249-1251)actfs	p.T417fs	PANK2_ENST00000610179.1_Frame_Shift_Del_p.T294fs|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000497424.1_Frame_Shift_Del_p.T126fs	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	417					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGAGGAACTTTTTTTGGTC	0.343																																						ENST00000497424.1																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(376-378)acfs		pantothenate kinase 2							141.0	152.0	148.0					20																	3893120		2203	4300	6503	SO:0001589	frameshift_variant	80025				cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	g.chr20:3893120delT	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.1251delT	20.37:g.3893120delT	ENSP00000313377:p.Thr417fs					PANK2_ENST00000316562.4_Frame_Shift_Del_p.T417fs|PANK2_ENST00000336066.3_3'UTR	p.T126fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN			4	689	+			417		G -> A (in dbSNP:rs3737084).			B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Frame_Shift_Del	DEL	ENST00000316562.4	37	c.378delT	CCDS13071.2																																																																																				0.343	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077793.2	NM_024960		7	963						7	963	---	---	---	---
KIZ-AS1	101929591	broad.mit.edu	37	20	21196122	21196122	+	RNA	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:21196122delA	ENST00000591761.1	-	0	119				RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA																							TACATTAACCAAAAAAAAAAA	0.244																																						ENST00000591761.1																			0																																																			0							g.chr20:21196122delA																													20.37:g.21196122delA						RP4-777D9.2_ENST00000443753.1_RNA|PLK1S1_ENST00000457464.1_RNA|RP4-777D9.2_ENST00000433213.2_RNA								0	119	-									RNA	DEL	ENST00000591761.1	37																																																																																						0.244	RP4-777D9.2-002	KNOWN	basic	antisense	antisense	OTTHUMT00000078258.2			7	18						7	18	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628310	29628312	+	In_Frame_Del	DEL	AGG	AGG	-	rs111939959		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:29628310_29628312delAGG	ENST00000278882.3	+	6	692_694	c.312_314delAGG	c.(310-315)gcagga>gca	p.G105del	FRG1B_ENST00000439954.2_In_Frame_Del_p.G110del|FRG1B_ENST00000358464.4_In_Frame_Del_p.G105del			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	506						8	506	---	---	---	---
BCL2L1	598	broad.mit.edu	37	20	30309591	30309591	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:30309591delA	ENST00000307677.4	-	2	841	c.431delT	c.(430-432)ttcfs	p.F144fs	BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	BCL2-like 1	144					apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process in bone marrow (GO:0071839)|cell proliferation (GO:0008283)|cellular process regulating host cell cycle in response to virus (GO:0060154)|cellular response to alkaloid (GO:0071312)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cytokinesis (GO:0000910)|endocytosis (GO:0006897)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fertilization (GO:0009566)|germ cell development (GO:0007281)|growth (GO:0040007)|hepatocyte apoptotic process (GO:0097284)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|male gonad development (GO:0008584)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of execution phase of apoptosis (GO:1900118)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|release of cytochrome c from mitochondria (GO:0001836)|response to cycloheximide (GO:0046898)|response to cytokine (GO:0034097)|spermatogenesis (GO:0007283)|suppression by virus of host apoptotic process (GO:0019050)	Bcl-2 family protein complex (GO:0097136)|cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synapse (GO:0045202)	BH3 domain binding (GO:0051434)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			GCCGAAGGAGAAAAAGGCCAC	0.542																																					Colon(51;693 1004 1401 20431 21026)	ENST00000307677.4																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(430-432)tcfs		BCL2-like 1							199.0	198.0	199.0					20																	30309591		2203	4300	6503	SO:0001589	frameshift_variant	598				induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nuclear membrane	BH3 domain binding|identical protein binding	g.chr20:30309591delA	Z23115	CCDS13188.1, CCDS13189.1	20q11.21	2014-03-07			ENSG00000171552	ENSG00000171552		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	992	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 52"""	600039				8358789	Standard	NM_001191		Approved	BCLX, BCL2L, Bcl-X, bcl-xL, bcl-xS, PPP1R52	uc002wwl.3	Q07817	OTTHUMG00000032192	ENST00000307677.4:c.431delT	20.37:g.30309591delA	ENSP00000302564:p.Phe144fs					BCL2L1_ENST00000376062.2_Frame_Shift_Del_p.F144fs|BCL2L1_ENST00000376055.4_Intron|BCL2L1_ENST00000420653.1_Frame_Shift_Del_p.F144fs	p.F144fs	NM_138578.1	NP_612815.1	Q07817	B2CL1_HUMAN	Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)		2	841	-	all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		144					E1P5L6|Q5CZ89|Q5TE65|Q92976	Frame_Shift_Del	DEL	ENST00000307677.4	37	c.431delT	CCDS13189.1																																																																																				0.542	BCL2L1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078575.1	NM_138578		13	1851						13	1851	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45875072	45875072	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:45875072delT	ENST00000311275.7	-	14	2157	c.1904delA	c.(1903-1905)aagfs	p.K635fs	ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	635					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AGGCTTGGGCTTTTTTTTAAC	0.488																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(1903-1905)agfs		zinc finger, MYND-type containing 8							203.0	199.0	200.0					20																	45875072		2203	4300	6503	SO:0001589	frameshift_variant	23613						protein binding|zinc ion binding	g.chr20:45875072delT	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1904delA	20.37:g.45875072delT	ENSP00000312237:p.Lys635fs					ZMYND8_ENST00000360911.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000446994.2_Frame_Shift_Del_p.K572fs|ZMYND8_ENST00000471951.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000262975.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000540497.1_Frame_Shift_Del_p.K583fs|ZMYND8_ENST00000461685.1_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000355972.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000372023.3_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000352431.2_Frame_Shift_Del_p.K655fs|ZMYND8_ENST00000458360.2_Frame_Shift_Del_p.K630fs|ZMYND8_ENST00000396281.4_Frame_Shift_Del_p.K635fs|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000536340.1_Frame_Shift_Del_p.K662fs	p.K635fs			Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		14	2157	-			635					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Frame_Shift_Del	DEL	ENST00000311275.7	37	c.1904delA																																																																																					0.488	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		8	918						8	918	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61512380	61512381	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr20:61512380_61512381insG	ENST00000266070.4	-	16	5252_5253	c.4927_4928insC	c.(4927-4929)cgcfs	p.R1643fs	DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.R1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1643					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTGGCGGGGCGGGTGCCCTCC	0.728																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(4927-4929)cccfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61512380_61512381insG	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.4928dupC	20.37:g.61512383_61512383dupG	ENSP00000266070:p.Arg1643fs					DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.P1643fs	p.P1643fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			16	5252_5253	-	Breast(26;5.68e-08)		1643					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.4927_4928insC	CCDS33506.1																																																																																				0.728	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		8	103						8	103	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15343608	15343609	+	RNA	INS	-	-	A			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr21:15343608_15343609insA	ENST00000344693.5	-	0	736				RNU6-954P_ENST00000411355.1_RNA	NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		TAAAACAGCAGAAAAAATTAAT	0.272																																						ENST00000344693.5																			0																																																			0							g.chr21:15343608_15343609insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15343614_15343614dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.272	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			8	406						8	406	---	---	---	---
MICAL3	57553	broad.mit.edu	37	22	18301214	18301214	+	Frame_Shift_Del	DEL	G	G	-	rs143411730	byFrequency	TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:18301214delG	ENST00000441493.2	-	26	4565	c.4213delC	c.(4213-4215)cggfs	p.R1405fs	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1405	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GACGGGGACCGGGGGGTTGGC	0.667																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4213-4215)ggfs		microtubule associated monooxygenase, calponin and LIM domain containing 3							71.0	82.0	78.0					22																	18301214		1927	4120	6047	SO:0001589	frameshift_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301214delG	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4213delC	22.37:g.18301214delG	ENSP00000416015:p.Arg1405fs						p.R1405fs	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4565	-		all_epithelial(15;0.198)	1405			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Del	DEL	ENST00000441493.2	37	c.4213delC	CCDS46659.1																																																																																				0.667	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			8	850						8	850	---	---	---	---
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-	rs267607534|rs373980795|rs267607533|rs149571560|rs200984527|rs370803228		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:29885599_29885604delAGGAAG	ENST00000310624.6	+	4	2003_2008	c.1970_1975delAGGAAG	c.(1969-1977)aaggaagag>aag	p.EE658del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1969-1977)aag>a		neurofilament, heavy polypeptide																																				SO:0001651	inframe_deletion	4744				cell death|nervous system development	neurofilament		g.chr22:29885599_29885604delAGGAAG		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1970_1975delAGGAAG	22.37:g.29885599_29885604delAGGAAG	ENSP00000311997:p.Glu658_Glu659del						p.KEE657del	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			4	2003_2008	+			663			30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	ENST00000310624.6	37	c.1970_1975delAGGAAG	CCDS13858.1																																																																																				0.558	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		7	717						7	717	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120029	38120031	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38120029_38120031delCCT	ENST00000406386.3	+	7	1721_1723	c.1466_1468delCCT	c.(1465-1470)gcctcc>gcc	p.S491del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	491					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1465-1470)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120029_38120031delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1466_1468delCCT	22.37:g.38120032_38120034delCCT	ENSP00000384312:p.Ser491del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS489del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1721_1723	+	Melanoma(58;0.0574)		489					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1466_1468delCCT	CCDS43015.1																																																																																				0.601	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			15	929						15	929	---	---	---	---
TRIOBP	11078	broad.mit.edu	37	22	38120323	38120325	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38120323_38120325delCCT	ENST00000406386.3	+	7	2015_2017	c.1760_1762delCCT	c.(1759-1764)gcctcc>gcc	p.S589del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	589					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAA	0.596																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1759-1764)gcc>g		TRIO and F-actin binding protein																																				SO:0001651	inframe_deletion	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120323_38120325delCCT	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1760_1762delCCT	22.37:g.38120326_38120328delCCT	ENSP00000384312:p.Ser589del					RP1-37E16.12_ENST00000455236.1_RNA	p.AS587del	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2015_2017	+	Melanoma(58;0.0574)		587					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	In_Frame_Del	DEL	ENST00000406386.3	37	c.1760_1762delCCT	CCDS43015.1																																																																																				0.596	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			19	1908						19	1908	---	---	---	---
DDX17	10521	broad.mit.edu	37	22	38897210	38897211	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chr22:38897210_38897211insT	ENST00000396821.3	-	2	461_462	c.362_363insA	c.(361-363)aagfs	p.K121fs	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.K42fs	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	121					ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAATCCCACTTTTTTTTACG	0.421																																					Ovarian(55;1085 1454 6392 21425)	ENST00000396821.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(361-363)atgfs		DEAD (Asp-Glu-Ala-Asp) box helicase 17																																				SO:0001589	frameshift_variant	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38897210_38897211insT	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.363dupA	22.37:g.38897218_38897218dupT	ENSP00000380033:p.Lys121fs					DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Frame_Shift_Ins_p.M42fs	p.M121fs	NM_001098504.1|NM_006386.4	NP_001091974.1|NP_006377.2	Q92841	DDX17_HUMAN			2	461_462	-	Melanoma(58;0.0286)		42					B1AHM0|Q69YT1|Q6ICD6	Frame_Shift_Ins	INS	ENST00000396821.3	37	c.362_363insA	CCDS46706.1																																																																																				0.421	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881		8	231						8	231	---	---	---	---
OFD1	8481	broad.mit.edu	37	X	13764946	13764946	+	Frame_Shift_Del	DEL	A	A	-	rs312262846|rs312262847|rs312262848		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:13764946delA	ENST00000340096.6	+	8	1029	c.702delA	c.(700-702)gcafs	p.A234fs	OFD1_ENST00000380567.1_Frame_Shift_Del_p.A94fs|OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	234					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AAATGGAAGCAAAAAAAAAGT	0.299																																						ENST00000380567.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(280-282)gcfs		oral-facial-digital syndrome 1				31,3690		0,25,6,1567,531	48.0	47.0	47.0			4.2	1.0	X		47	88,6391		4,29,51,2322,1718	no	frameshift	OFD1	NM_003611.2		4,54,57,3889,2249	A1A1,A1R,A1,RR,R		1.3582,0.8331,1.1667			13764946	119,10081	2203	4298	6501	SO:0001589	frameshift_variant	8481				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding	g.chrX:13764946delA	Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.702delA	X.37:g.13764946delA	ENSP00000344314:p.Ala234fs					OFD1_ENST00000380550.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000398395.3_Frame_Shift_Del_p.A234fs|OFD1_ENST00000340096.6_Frame_Shift_Del_p.A234fs	p.A94fs			O75665	OFD1_HUMAN			9	1154	+			234			LisH.		B9ZVU5|O75666|Q4VAK4	Frame_Shift_Del	DEL	ENST00000340096.6	37	c.282delA	CCDS14157.1																																																																																				0.299	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055808.1	NM_003611		12	383						12	383	---	---	---	---
RBM10	8241	broad.mit.edu	37	X	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000329236.7_Intron|RBM10_ENST00000345781.6_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						c.(334-339)ggg>gg		RNA binding motif protein 10			,,,,	630,3068		53,380,144,1150,388					,,,,	4.2	1.0			18	1271,5155		67,669,468,1609,1268	no	intron,coding,coding,coding,intron	RBM10	NM_152856.2,NM_005676.4,NM_001204468.1,NM_001204467.1,NM_001204466.1	,,,,	120,1049,612,2759,1656	A1A1,A1R,A1,RR,R		19.779,17.0362,18.7772	,,,,	,,,,		1901,8223				SO:0001651	inframe_deletion	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47030561_47030563delGGA	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.336_338delGGA	X.37:g.47030570_47030572delGGA	ENSP00000366829:p.Glu119del					RBM10_ENST00000468791.1_3'UTR|RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	p.GE112del	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN			4	1078_1080	+			112					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	In_Frame_Del	DEL	ENST00000377604.3	37	c.336_338delGGA	CCDS14274.1																																																																																				0.660	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	NM_005676		9	220						9	220	---	---	---	---
SSX9	280660	broad.mit.edu	37	X	48159108	48159108	+	RNA	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:48159108delG	ENST00000608568.1	-	0	580					NR_073393.1		Q7RTT3	SSX9_HUMAN	synovial sarcoma, X breakpoint 9						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						TGGTTTTCCCGGGGGGCACAG	0.488																																						ENST00000376909.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						c.(424-426)cgfs									188.0	189.0	188.0					X																	48159108		2203	4299	6502			0							g.chrX:48159108delG	BK000689		Xp11.23	2013-01-16			ENSG00000204648	ENSG00000204648			19655	other	unknown		300544				12216073	Standard	NR_073393		Approved		uc031tjk.1	Q7RTT3	OTTHUMG00000021490		X.37:g.48159108delG						SSX9_ENST00000407081.2_Frame_Shift_Del_p.P142fs	p.P142fs							6	487	-									Frame_Shift_Del	DEL	ENST00000608568.1	37	c.425delC																																																																																					0.488	SSX9-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000472372.1	NR_073393		7	1404						7	1404	---	---	---	---
AR	367	broad.mit.edu	37	X	66765159	66765167	+	In_Frame_Del	DEL	GCAGCAGCA	GCAGCAGCA	-	rs137852575|rs200185441		TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:66765159_66765167delGCAGCAGCA	ENST00000374690.3	+	1	695_703	c.171_179delGCAGCAGCA	c.(169-180)ctgcagcagcag>ctg	p.QQQ76del	AR_ENST00000396044.3_In_Frame_Del_p.QQQ76del|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.QQQ76del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	76	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CI065812|CI994028|CM033749|CM054646|CM930034	AR	I|M	rs137852575|rs5902610	c.(169-180)ctg>ct		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)																																			SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765159_66765167delGCAGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.171_179delGCAGCAGCA	X.37:g.66765168_66765176delGCAGCAGCA	ENSP00000363822:p.Gln76_Gln78del					AR_ENST00000396044.3_In_Frame_Del_p.LQQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQQ57del|AR_ENST00000513847.1_3'UTR	p.LQQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	695_703	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.171_179delGCAGCAGCA	CCDS14387.1																																																																																				0.665	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		16	178						16	178	---	---	---	---
EDA	1896	broad.mit.edu	37	X	68836236	68836237	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:68836236_68836237insG	ENST00000374552.4	+	1	326_327	c.84_85insG	c.(85-87)gggfs	p.G29fs	EDA_ENST00000338901.3_Frame_Shift_Ins_p.G29fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.G29fs|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000524573.1_Frame_Shift_Ins_p.G29fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.G29fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.G29fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	29					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCGGGTGTGGCGGGGCCCCTGC	0.708																																						ENST00000374552.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(82-87)gggggcfs		ectodysplasin A																																				SO:0001589	frameshift_variant	1896				cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding	g.chrX:68836236_68836237insG	U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.88dupG	X.37:g.68836240_68836240dupG	ENSP00000363680:p.Gly29fs					EDA_ENST00000338901.3_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000525810.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000374553.2_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000524573.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000527388.1_Frame_Shift_Ins_p.GG28fs|EDA_ENST00000502251.1_3'UTR	p.GG28fs	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN			1	326_327	+			28					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Frame_Shift_Ins	INS	ENST00000374552.4	37	c.84_85insG	CCDS14394.1																																																																																				0.708	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	NM_001399		7	239						7	239	---	---	---	---
CUL4B	8450	broad.mit.edu	37	X	119694117	119694119	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:119694117_119694119delGAG	ENST00000404115.3	-	3	830_832	c.429_431delCTC	c.(427-432)tcctca>tca	p.143_144SS>S	CUL4B_ENST00000371322.5_In_Frame_Del_p.125_126SS>S|CUL4B_ENST00000336592.6_In_Frame_Del_p.130_131SS>S	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	143	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTGAAGATgaggaggaggagg	0.488																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(373-378)tca>tc		cullin 4B			,	18,3703		0,6,12,1586,525					,	-9.6	0.5			58	72,6412		1,19,51,2337,1719	no	coding,coding	CUL4B	NM_003588.3,NM_001079872.1	,	1,25,63,3923,2244	A1A1,A1R,A1,RR,R		1.1104,0.4837,0.8819	,	,		90,10115				SO:0001651	inframe_deletion	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119694117_119694119delGAG	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.429_431delCTC	X.37:g.119694126_119694128delGAG	ENSP00000384109:p.Ser146del					CUL4B_ENST00000404115.3_In_Frame_Del_p.SS145del|CUL4B_ENST00000336592.6_In_Frame_Del_p.SS132del	p.SS127del	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			1	436_438	-			145			Ser-rich.		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	In_Frame_Del	DEL	ENST00000404115.3	37	c.375_377delCTC	CCDS35379.1																																																																																				0.488	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		9	396						9	396	---	---	---	---
GPR112	139378	broad.mit.edu	37	X	135455156	135455156	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:135455156delG	ENST00000394143.1	+	15	8000	c.7709delG	c.(7708-7710)cggfs	p.R2570fs	GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTGTGCTGCGGGGGGACCAC	0.532																																						ENST00000394143.1																			1	Substitution - Missense(1)	p.R2570L(1)	lung(1)	NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7708-7710)cgfs		G protein-coupled receptor 112							252.0	224.0	234.0					X																	135455156		2203	4300	6503	SO:0001589	frameshift_variant	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455156delG	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7709delG	X.37:g.135455156delG	ENSP00000377699:p.Arg2570fs					GPR112_ENST00000287534.4_Frame_Shift_Del_p.R2368fs|GPR112_ENST00000394141.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.R2365fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.R2570fs	p.R2570fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			15	8000	+	Acute lymphoblastic leukemia(192;0.000127)		2570					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Frame_Shift_Del	DEL	ENST00000394143.1	37	c.7709delG	CCDS35409.1																																																																																				0.532	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			8	2089						8	2089	---	---	---	---
MCF2	4168	broad.mit.edu	37	X	138697052	138697052	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:138697052delA	ENST00000370576.4	-	10	1560	c.1351delT	c.(1351-1353)tcafs	p.S452fs	MCF2_ENST00000338585.6_Frame_Shift_Del_p.S452fs|MCF2_ENST00000520602.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000519895.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000536274.1_Frame_Shift_Del_p.S413fs|MCF2_ENST00000370573.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.S597fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000414978.1_Frame_Shift_Del_p.S512fs	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	452					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TGTTTAGATGAAAAAAATGGT	0.368																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(1531-1533)cafs		MCF.2 cell line derived transforming sequence							133.0	130.0	131.0					X																	138697052		2203	4300	6503	SO:0001589	frameshift_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138697052delA		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1351delT	X.37:g.138697052delA	ENSP00000359608:p.Ser452fs					MCF2_ENST00000370576.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000370573.4_Frame_Shift_Del_p.S452fs|MCF2_ENST00000536274.1_Frame_Shift_Del_p.S413fs|MCF2_ENST00000370578.4_Frame_Shift_Del_p.S597fs|MCF2_ENST00000338585.6_Frame_Shift_Del_p.S452fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000519895.1_Frame_Shift_Del_p.S512fs|MCF2_ENST00000414978.1_Frame_Shift_Del_p.S512fs	p.S512fs			P10911	MCF2_HUMAN			13	1816	-	Acute lymphoblastic leukemia(192;0.000127)		452			DH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Frame_Shift_Del	DEL	ENST00000370576.4	37	c.1531delT	CCDS14667.1																																																																																				0.368	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	881						7	881	---	---	---	---
PNMA3	29944	broad.mit.edu	37	X	152225996	152225997	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:152225996_152225997insG	ENST00000370264.4	+	1	610_611	c.584_585insG	c.(583-588)caggtgfs	p.V196fs	PNMA3_ENST00000447306.1_Frame_Shift_Ins_p.V196fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.V196fs			Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	196					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cagatgtggcaggtgcccgagg	0.574																																						ENST00000447306.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(583-585)cgtfs		paraneoplastic Ma antigen 3																																				SO:0001589	frameshift_variant	29944				apoptosis	nucleolus	nucleic acid binding|zinc ion binding	g.chrX:152225996_152225997insG	AF083116	CCDS35435.2, CCDS65344.1	Xq28	2012-02-09	2012-02-09		ENSG00000183837	ENSG00000183837		"""Paraneoplastic Ma antigens"""	18742	protein-coding gene	gene with protein product	"""paraneoplastic cancer-testis-brain antigen"""	300675	"""paraneoplastic antigen MA3"""			11558790	Standard	NM_013364		Approved	MA5, MA3, MGC132756, MGC132758	uc004fhc.2	Q9UL41	OTTHUMG00000024195	ENST00000370264.4:c.586dupG	X.37:g.152225998_152225998dupG	ENSP00000359286:p.Val196fs					PNMA3_ENST00000370264.4_Frame_Shift_Ins_p.R195fs|PNMA3_ENST00000370265.4_Frame_Shift_Ins_p.R195fs	p.R195fs	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN			2	920_921	+	Acute lymphoblastic leukemia(192;6.56e-05)		195					D3DWT7|Q9H0A4	Frame_Shift_Ins	INS	ENST00000370264.4	37	c.584_585insG	CCDS35435.2																																																																																				0.574	PNMA3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060946.2	NM_013364		7	897						7	897	---	---	---	---
HCFC1	3054	broad.mit.edu	37	X	153216342	153216342	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:153216342delC	ENST00000310441.7	-	23	6591	c.5625delG	c.(5623-5625)gggfs	p.G1875fs	HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs|HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1875	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTGAAGGGCCCCCGGCCAC	0.567																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5623-5625)ggfs		host cell factor C1 (VP16-accessory protein)							126.0	136.0	133.0					X																	153216342		1957	4129	6086	SO:0001589	frameshift_variant	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216342delC		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5625delG	X.37:g.153216342delC	ENSP00000309555:p.Gly1875fs					HCFC1_ENST00000369984.4_Frame_Shift_Del_p.G1920fs|HCFC1_ENST00000354233.3_Frame_Shift_Del_p.G1806fs	p.G1875fs	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6591	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1875					Q6P4G5	Frame_Shift_Del	DEL	ENST00000310441.7	37	c.5625delG	CCDS44020.1																																																																																				0.567	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		7	2015						7	2015	---	---	---	---
TKTL1	8277	broad.mit.edu	37	X	153541044	153541044	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-8126-01A-11D-2396-08	TCGA-IB-8126-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39fccb1b-b1fb-4a1f-bb83-beaefa163ff1	6e08a2fc-e7b8-4811-a7c5-e676767d0e8a	g.chrX:153541044delC	ENST00000369915.3	+	6	973	c.784delC	c.(784-786)cccfs	p.P263fs	TKTL1_ENST00000369912.2_Frame_Shift_Del_p.P207fs|TKTL1_ENST00000217905.7_Intron	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN	transketolase-like 1	263					glucose catabolic process (GO:0006007)|thiamine metabolic process (GO:0006772)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|transketolase activity (GO:0004802)			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACCCACAGCCCCCCATTGA	0.468																																						ENST00000369915.3																			0				NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34						c.(784-786)ccfs		transketolase-like 1							134.0	113.0	120.0					X																	153541044		2203	4300	6503	SO:0001589	frameshift_variant	8277				glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity	g.chrX:153541044delC	X91817	CCDS35448.1, CCDS55541.1	Xq28	2008-02-05			ENSG00000007350	ENSG00000007350			11835	protein-coding gene	gene with protein product		300044				8838793	Standard	NM_012253		Approved	TKR, TKT2	uc004fkg.3	P51854	OTTHUMG00000022707	ENST00000369915.3:c.784delC	X.37:g.153541044delC	ENSP00000358931:p.Pro263fs					TKTL1_ENST00000217905.7_Intron|TKTL1_ENST00000369912.2_Frame_Shift_Del_p.P207fs	p.P263fs	NM_001145933.1|NM_012253.3	NP_001139405.1|NP_036385.3	P51854	TKTL1_HUMAN			6	973	+	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)		263					A8K896|Q5TYJ8|Q5TYJ9|Q8TC75	Frame_Shift_Del	DEL	ENST00000369915.3	37	c.784delC	CCDS35448.1																																																																																				0.468	TKTL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058923.1	NM_012253		7	633						7	633	---	---	---	---
