#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
SLC25A24	29957	broad.mit.edu	37	1	108724652	108724653	+	Splice_Site	INS	-	-	CCCATTCATTTTG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:108724652_108724653insCCCATTCATTTTG	ENST00000565488.1	-	3	530		c.e3-2		SLC25A24_ENST00000370041.4_Splice_Site	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						ATP transport (GO:0015867)|cellular response to calcium ion (GO:0071277)|cellular response to oxidative stress (GO:0034599)|mitochondrial transport (GO:0006839)|regulation of cell death (GO:0010941)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP transmembrane transporter activity (GO:0005347)|calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		CAATTTTTCCTTTAAAAAAATA	0.337																																						ENST00000565488.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16						c.e3-2		solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24																																				SO:0001630	splice_region_variant	29957				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	g.chr1:108724652_108724653insCCCATTCATTTTG	AJ619961	CCDS786.1, CCDS41361.1	1p13.2	2013-05-22			ENSG00000085491	ENSG00000085491		"""Solute carriers"", ""EF-hand domain containing"""	20662	protein-coding gene	gene with protein product		608744				15123600	Standard	NM_013386		Approved	DKFZp586G0123, APC1	uc001dvn.5	Q6NUK1	OTTHUMG00000011013	ENST00000565488.1:c.311-2->CAAAATGAATGGG	1.37:g.108724652_108724653insCCCATTCATTTTG		True	False		Somatic	0				SLC25A24_ENST00000370041.4_Splice_Site		NM_013386.4	NP_037518.3	WXS	Illumina HiSeq	Phase_I	Q6NUK1	SCMC1_HUMAN		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)	3	530	-		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)	NA					B7ZAI9|Q5T331|Q5T485|Q6PJJ9|Q705K4|Q9P129	Splice_Site	INS	ENST00000565488.1	37		CCDS41361.1																																																																																				0.337	SLC25A24-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030280.2	0	NM_013386	Intron	1:108724652
PPRC1	23082	broad.mit.edu	37	10	103907072	103907073	+	In_Frame_Ins	INS	-	-	TCC	rs376962432	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:103907072_103907073insTCC	ENST00000278070.2	+	9	4362_4363	c.4323_4324insTCC	c.(4324-4326)tcc>TCCtcc	p.1442_1442S>SS	PPRC1_ENST00000370012.1_In_Frame_Ins_p.409_409S>SS|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1442	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				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)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCGAAGCATCTTCCTCATCCTC	0.629														12	0.00239617	0.0091	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.0					ENST00000278070.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4324-4326)tcc>TCCtcc		peroxisome proliferator-activated receptor gamma, coactivator-related 1				42,4222		0,42,2090						2.9	1.0			105	0,8252		0,0,4126	no	coding	PPRC1	NM_015062.3		0,42,6216	A1A1,A1R,RR		0.0,0.985,0.3356				42,12474				SO:0001652	inframe_insertion	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907072_103907073insTCC	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4324_4326dupTCC	10.37:g.103907073_103907075dupTCC	ENSP00000278070:p.Ser1451dup	False	False		Somatic	1				PPRC1_ENST00000370012.1_In_Frame_Ins_p.409_409S>SS|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	p.1442_1442S>SS	NM_015062.3	NP_055877.3	WXS	Illumina HiSeq	Phase_I	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4362_4363	+		Colorectal(252;0.122)	1442			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	In_Frame_Ins	INS	ENST00000278070.2	37	c.4323_4324insTCC	CCDS7529.1																																																																																				0.629	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	0	NM_015062		10:103907072
WDR11	55717	broad.mit.edu	37	10	122624718	122624719	+	Frame_Shift_Ins	INS	-	-	ATATCAGACCTAATAAAAGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:122624718_122624719insATATCAGACCTAATAAAAGA	ENST00000263461.6	+	6	1119_1120	c.873_874insATATCAGACCTAATAAAAGA	c.(874-876)ttafs	p.L292fs		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	0					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GAGTTCCATTTTTACAGGTATC	0.356																																						ENST00000263461.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						c.(874-876)ttafs		WD repeat domain 11																																				SO:0001589	frameshift_variant	55717					integral to membrane		g.chr10:122624718_122624719insATATCAGACCTAATAAAAGA	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	Exception_encountered	10.37:g.122624718_122624719insATATCAGACCTAATAAAAGA	ENSP00000263461:p.Leu292fs	True	False		Somatic	0					p.L292fs	NM_018117.11	NP_060587.8	WXS	Illumina HiSeq	Phase_I	Q9BZH6	WDR11_HUMAN			6	1119_1120	+			292					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Frame_Shift_Ins	INS	ENST00000263461.6	37	c.873_874insATATCAGACCTAATAAAAGA	CCDS7619.1																																																																																				0.356	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2	0			10:122624718
SMC3	9126	broad.mit.edu	37	10	112361496	112361497	+	In_Frame_Ins	INS	-	-	TACCTATAAAGCCAGTGTTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTAT	ENST00000361804.4	+	24	2872_2873	c.2746_2747insTACCTATAAAGCCAGTGTTAT	c.(2746-2748)aat>aTACCTATAAAGCCAGTGTTATat	p.916_916N>IPIKPVLY		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	916					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGATGCTATAAATCATGATACT	0.356																																						ENST00000361804.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2746-2748)aat>aTACCTATAAAGCCAGTGTTATat		structural maintenance of chromosomes 3																																				SO:0001652	inframe_insertion	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361496_112361497insTACCTATAAAGCCAGTGTTAT	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	Exception_encountered	10.37:g.112361496_112361497insTACCTATAAAGCCAGTGTTAT	ENSP00000354720:p.Asn916delinsIleProIleLysProValLeuTyr	True	False		Somatic	0					p.916_916N>IPIKPVLY	NM_005445.3	NP_005436.1	WXS	Illumina HiSeq	Phase_I	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2872_2873	+		Breast(234;0.0848)|Lung NSC(174;0.238)	916					A8K156|O60464|Q5T482	In_Frame_Ins	INS	ENST00000361804.4	37	c.2746_2747insTACCTATAAAGCCAGTGTTAT	CCDS31285.1																																																																																				0.356	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	0	NM_005445		10:112361496
C11orf16	56673	broad.mit.edu	37	11	8942889	8942890	+	Frame_Shift_Del	DEL	AT	AT	-	rs398102297|rs10583719	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:8942889_8942890delAT	ENST00000326053.5	-	6	1483_1484	c.1377_1378delAT	c.(1375-1380)atatgtfs	p.IC459fs	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	459										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		TTCCACTGACATATTGCAAGGC	0.54														164	0.0327476	0.1135	0.0173	5008	,	,		18882	0.0		0.002	False		,,,				2504	0.0					ENST00000326053.5		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(1375-1380)atatgtfs		chromosome 11 open reading frame 16				445,3819		22,401,1709						-1.1	0.0		dbSNP_119	130	6,8248		0,6,4121	no	frameshift	C11orf16	NM_020643.2		22,407,5830	A1A1,A1R,RR		0.0727,10.4362,3.6028				451,12067				SO:0001589	frameshift_variant	56673							g.chr11:8942889_8942890delAT	AJ400877	CCDS7794.1	11p15.3	2008-06-25			ENSG00000176029	ENSG00000176029			1169	protein-coding gene	gene with protein product						11528127	Standard	NM_020643		Approved		uc001mhb.4	Q9NQ32	OTTHUMG00000165654	ENST00000326053.5:c.1377_1378delAT	11.37:g.8942891_8942892delAT	ENSP00000318999:p.Ile459fs	False	False		Somatic	2				C11orf16_ENST00000525780.1_Intron	p.IC459fs	NM_020643.2	NP_065694.2	WXS	Illumina HiSeq	Phase_I	Q9NQ32	CK016_HUMAN		Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)	6	1483_1484	-			459					Q53FB2|Q8N6Y9	Frame_Shift_Del	DEL	ENST00000326053.5	37	c.1377_1378delAT	CCDS7794.1																																																																																				0.540	C11orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385626.1	0	NM_020643		11:8942889
IGSF22	283284	broad.mit.edu	37	11	18737105	18737106	+	In_Frame_Ins	INS	-	-	CCGTAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:18737105_18737106insCCGTAG	ENST00000513874.1	-	11	1543_1544	c.1404_1405insCTACGG	c.(1402-1407)catgag>catCTACGGgag	p.468_469HE>HLRE	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	468	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGCTTGCCCTCATGGTTCATGC	0.545																																						ENST00000513874.1		NA																	0				NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						c.(1402-1407)catgag>catCTACGGgag		immunoglobulin superfamily, member 22																																				SO:0001652	inframe_insertion	283284							g.chr11:18737105_18737106insCCGTAG	AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1404_1405insCTACGG	11.37:g.18737105_18737106insCCGTAG	ENSP00000421191:p.His468_Glu469insLeuArg	False	False		Somatic	0				RP11-1081L13.4_ENST00000527285.1_RNA	p.468_469HE>HLRE	NM_173588.3	NP_775859.3	WXS	Illumina HiSeq	Phase_I	Q8N9C0	IGS22_HUMAN			11	1543_1544	-			468			Ig-like 3.		A6NNA0|D6RGV7	In_Frame_Ins	INS	ENST00000513874.1	37	c.1404_1405insCTACGG	CCDS41625.2																																																																																				0.545	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360850.2	0	NM_173588		11:18737105
NOTCH2	4853	broad.mit.edu	37	1	120458705	120458706	+	In_Frame_Ins	INS	-	-	ATAGCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:120458705_120458706insATAGCT	ENST00000256646.2	-	34	6858_6859	c.6639_6640insAGCTAT	c.(6637-6642)ggggcc>gggAGCTATgcc	p.2213_2214GA>GSYA		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2213					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGTGCTGGCCCCATGTGCCA	0.564			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2		NA		Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		0				breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(6637-6642)ggggcc>gggAGCTATgcc		notch 2																																				SO:0001652	inframe_insertion	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120458705_120458706insATAGCT	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.6639_6640insAGCTAT	1.37:g.120458705_120458706insATAGCT	ENSP00000256646:p.Gly2213_Ala2214insSerTyr	True	False		Somatic	0					p.2213_2214GA>GSYA	NM_024408.3	NP_077719.2	WXS	Illumina HiSeq	Phase_I	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	34	6858_6859	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	2213					Q5T3X7|Q99734|Q9H240	In_Frame_Ins	INS	ENST00000256646.2	37	c.6639_6640insAGCTAT	CCDS908.1																																																																																				0.564	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	0	NM_024408		1:120458705
SEC22B	9554	broad.mit.edu	37	1	145115910	145115911	+	RNA	INS	-	-	AAGTATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:145115910_145115911insAAGTATT	ENST00000453618.1	+	0	996_997							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											ACAGTCACTGGTAAGGGAGAAC	0.401																																						ENST00000453618.1		NA																	0					NA								SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145115910_145115911insAAGTATT	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145115910_145115911insAAGTATT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	O75396	SC22B_HUMAN			0	996_997	+			NA					A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.401	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	0	NM_004892		1:145115910
OR5D16	390144	broad.mit.edu	37	11	55606811	55606815	+	Frame_Shift_Del	DEL	ATCTC	ATCTC	-	rs370499723|rs147515254	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	ATCTC	ATCTC	-	-	ATCTC	ATCTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:55606811_55606815delATCTC	ENST00000378396.1	+	1	584_588	c.584_588delATCTC	c.(583-588)tatctcfs	p.YL195fs		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	195						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L196L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CCTGACTCTTATCTCAGCCAGTTGC	0.39														94	0.01877	0.0673	0.0072	5008	,	,		23709	0.0		0.0	False		,,,				2504	0.0					ENST00000378396.1		NA																	1	Substitution - coding silent(1)	p.L196L(1)	lung(1)	cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(583-588)tatctcfs		olfactory receptor, family 5, subfamily D, member 16				155,4109		2,151,1979						-2.7	0.0		dbSNP_134	169	1,8249		0,1,4124	no	frameshift	OR5D16	NM_001005496.1		2,152,6103	A1A1,A1R,RR		0.0121,3.6351,1.2466				156,12358				SO:0001589	frameshift_variant	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606811_55606815delATCTC	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.584_588delATCTC	11.37:g.55606811_55606815delATCTC	ENSP00000367649:p.Tyr195fs	False	False		Somatic	1					p.YL195fs	NM_001005496.1	NP_001005496.1	WXS	Illumina HiSeq	Phase_I	Q8NGK9	OR5DG_HUMAN			1	584_588	+		all_epithelial(135;0.208)	195					Q6IF65|Q96RB4	Frame_Shift_Del	DEL	ENST00000378396.1	37	c.584_588delATCTC	CCDS31512.1																																																																																				0.390	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	0	NM_001005496		11:55606811
OR5R1	219479	broad.mit.edu	37	11	56184985	56184986	+	In_Frame_Ins	INS	-	-	TTGGAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:56184985_56184986insTTGGAT	ENST00000312253.1	-	1	722_723	c.723_724insATCCAA	c.(721-726)tgtggc>tgtATCCAAggc	p.241_242CG>CIQG		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	241						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ATATGGGAGCCACAGGTGGAAA	0.46																																						ENST00000312253.1		NA																	0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(721-726)tgtggc>tgtATCCAAggc		olfactory receptor, family 5, subfamily R, member 1																																				SO:0001652	inframe_insertion	219479				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56184985_56184986insTTGGAT	AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.723_724insATCCAA	11.37:g.56184985_56184986insTTGGAT	ENSP00000308595:p.Cys241_Gly242insIleGln	False	False		Somatic	0					p.241_242CG>CIQG	NM_001004744.1	NP_001004744.1	WXS	Illumina HiSeq	Phase_I	Q8NH85	OR5R1_HUMAN			1	722_723	-	Esophageal squamous(21;0.00448)		241						In_Frame_Ins	INS	ENST00000312253.1	37	c.723_724insATCCAA	CCDS31530.1																																																																																				0.460	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1	0	NM_001004744		11:56184985
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000396053.4_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
OR5M10	390167	broad.mit.edu	37	11	56344850	56344851	+	Frame_Shift_Ins	INS	-	-	ATCAATCATTTCTACT	rs148438199	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:56344850_56344851insATCAATCATTTCTACT	ENST00000526812.2	-	1	412_413	c.347_348insAGTAGAAATGATTGAT	c.(346-348)gctfs	p.-116fs		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATGCCATTGAAGCAAGGAAGTA	0.455																																						ENST00000526812.2		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(346-348)gctfs		olfactory receptor, family 5, subfamily M, member 10																																				SO:0001589	frameshift_variant	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344850_56344851insATCAATCATTTCTACT	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.347_348insAGTAGAAATGATTGAT	11.37:g.56344850_56344851insATCAATCATTTCTACT	ENSP00000436004:p.Ala116fs	False	False		Somatic	0					p.-116fs	NM_001004741.1	NP_001004741.1	WXS	Illumina HiSeq	Phase_I	Q6IEU7	OR5MA_HUMAN			1	412_413	-			NA					B9EIL9	Frame_Shift_Ins	INS	ENST00000526812.2	37	c.347_348insAGTAGAAATGATTGAT	CCDS53630.1																																																																																				0.455	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	0	NM_001004741		11:56344850
MALAT1	378938	broad.mit.edu	37	11	65269284	65269285	+	lincRNA	INS	-	-	GTACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:65269284_65269285insGTACT	ENST00000534336.1	+	0	4052_4053					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GTTTTCCAATAATGTGACTTCT	0.416																																						ENST00000534336.1		NA																	0					NA																																														0							g.chr11:65269284_65269285insGTACT	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269284_65269285insGTACT		False	False		Somatic	0						NR_002819.2		WXS	Illumina HiSeq	Phase_I					0	4052_4053	+			NA						RNA	INS	ENST00000534336.1	37																																																																																						0.416	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	0	NR_002819		11:65269284
MALAT1	378938	broad.mit.edu	37	11	65269286	65269287	+	lincRNA	INS	-	-	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:65269286_65269287insA	ENST00000534336.1	+	0	4054_4055					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TTTCCAATAATGTGACTTCTTA	0.411																																						ENST00000534336.1		NA																	0					NA																																														0							g.chr11:65269286_65269287insA	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269286_65269287insA		False	False		Somatic	0						NR_002819.2		WXS	Illumina HiSeq	Phase_I					0	4054_4055	+			NA						RNA	INS	ENST00000534336.1	37																																																																																						0.411	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	0	NR_002819		11:65269286
MALAT1	378938	broad.mit.edu	37	11	65271291	65271292	+	lincRNA	INS	-	-	TAAATAAGGAGACAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:65271291_65271292insTAAATAAGGAGACAG	ENST00000534336.1	+	0	6059_6060					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		CAAATTTTATTCTTCATAAAGT	0.371																																						ENST00000534336.1		NA																	0					NA																																														0							g.chr11:65271291_65271292insTAAATAAGGAGACAG	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65271291_65271292insTAAATAAGGAGACAG		False	False		Somatic	0						NR_002819.2		WXS	Illumina HiSeq	Phase_I					0	6059_6060	+			NA						RNA	INS	ENST00000534336.1	37																																																																																						0.371	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	0	NR_002819		11:65271291
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
RNF214	257160	broad.mit.edu	37	11	117117666	117117667	+	Splice_Site	INS	-	-	TATTTTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:117117666_117117667insTATTTTC	ENST00000531452.1	+	6	1005		c.e6+2		RNF214_ENST00000530849.1_Splice_Site|RNF214_ENST00000300650.4_Splice_Site|RNF214_ENST00000531287.1_Splice_Site	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214								zinc ion binding (GO:0008270)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		GGGCAGAAGGTAACTGATGTTA	0.376																																						ENST00000530849.1		NA																	0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23						c.e5+2		ring finger protein 214																																				SO:0001630	splice_region_variant	257160						zinc ion binding	g.chr11:117117666_117117667insTATTTTC	AL834448	CCDS41720.1, CCDS60976.1	11q23.3	2014-02-12	2007-02-16		ENSG00000167257	ENSG00000167257		"""RING-type (C3HC4) zinc fingers"""	25335	protein-coding gene	gene with protein product							Standard	NM_001077239		Approved	DKFZp547C195	uc001pqt.4	Q8ND24	OTTHUMG00000167069	ENST00000531452.1:c.959+2->TATTTTC	11.37:g.117117666_117117667insTATTTTC		False	False		Somatic	0				RNF214_ENST00000300650.4_Splice_Site|RNF214_ENST00000531287.1_Splice_Site|RNF214_ENST00000531452.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q8ND24	RN214_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)	5	504	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	NA					B2RUW0|B4DTD1	Splice_Site	INS	ENST00000531452.1	37		CCDS41720.1																																																																																				0.376	RNF214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392884.1	0	NM_001077239	Intron	11:117117666
AICDA	57379	broad.mit.edu	37	12	8757493	8757494	+	In_Frame_Ins	INS	-	-	GTCTTTTTTGGAGTTTCGTAT	rs104894327		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:8757493_8757494insGTCTTTTTTGGAGTTTCGTAT	ENST00000229335.6	-	4	555_556	c.452_453insATACGAAACTCCAAAAAAGAC	c.(451-453)ttt>ttATACGAAACTCCAAAAAAGACt	p.151_151F>LYETPKKT	AICDA_ENST00000537228.1_Intron	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	151			F -> S (in HIGM2). {ECO:0000269|PubMed:11007475}.		B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGTTTTCTACAAAAGTATTCCA	0.426																																					GBM(62;896 1067 5527 26594 30137)	ENST00000229335.6		NA																	0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	GRCh37	CM002427	AICDA	M	rs104894327	c.(451-453)ttt>ttATACGAAACTCCAAAAAAGACt		activation-induced cytidine deaminase																																				SO:0001652	inframe_insertion	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757493_8757494insGTCTTTTTTGGAGTTTCGTAT	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.452_453insATACGAAACTCCAAAAAAGAC	12.37:g.8757493_8757494insGTCTTTTTTGGAGTTTCGTAT	ENSP00000229335:p.Phe151delinsLeuTyrGluThrProLysLysThr	True	False		Somatic	0				AICDA_ENST00000537228.1_Intron	p.151_151F>LYETPKKT	NM_020661.2	NP_065712.1	WXS	Illumina HiSeq	Phase_I	Q9GZX7	AICDA_HUMAN			4	555_556	-	Lung SC(5;0.184)		151		F -> S (in HIGM2).			Q6QJ81|Q8NFC1	In_Frame_Ins	INS	ENST00000229335.6	37	c.452_453insATACGAAACTCCAAAAAAGAC	CCDS41747.1																																																																																				0.426	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	0	NM_020661		12:8757493
KIAA1467	57613	broad.mit.edu	37	12	13208626	13208627	+	Frame_Shift_Ins	INS	-	-	AAATATATGG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:13208626_13208627insAAATATATGG	ENST00000197268.8	+	2	299_300	c.179_180insAAATATATGG	c.(178-183)cccgacfs	p.D61fs		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	61						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCGCCAGAACCCGACTCAGATG	0.554																																						ENST00000197268.8		NA																	0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36						c.(178-183)cccgacfs		KIAA1467																																				SO:0001589	frameshift_variant	57613					integral to membrane		g.chr12:13208626_13208627insAAATATATGG	AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		Exception_encountered	12.37:g.13208626_13208627insAAATATATGG	ENSP00000197268:p.Asp61fs	True	False		Somatic	0					p.D61fs	NM_020853.1	NP_065904.1	WXS	Illumina HiSeq	Phase_I	A2RU67	K1467_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.157)	2	299_300	+		Prostate(47;0.184)	61					Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Frame_Shift_Ins	INS	ENST00000197268.8	37	c.179_180insAAATATATGG	CCDS31750.1																																																																																				0.554	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401007.1	0	NM_020853		12:13208626
LYZ	4069	broad.mit.edu	37	12	69742300	69742301	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:69742300_69742301insCC	ENST00000261267.2	+	1	180_181	c.112_113insCC	c.(112-114)tacfs	p.Y38fs	LYZ_ENST00000549690.1_Frame_Shift_Ins_p.Y38fs|LYZ_ENST00000548839.1_Frame_Shift_Ins_p.Y38fs	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	38					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	AATGGATGGCTACAGGGGAATC	0.465																																						ENST00000549690.1		NA																	0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(112-114)tacfs		lysozyme																																				SO:0001589	frameshift_variant	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69742300_69742301insCC	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"""renal amyloidosis"""	153450	"""lysozyme (renal amyloidosis)"""			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	Exception_encountered	12.37:g.69742300_69742301insCC	ENSP00000261267:p.Tyr38fs	False	False		Somatic	0				LYZ_ENST00000548839.1_Frame_Shift_Ins_p.Y38fs|LYZ_ENST00000261267.2_Frame_Shift_Ins_p.Y38fs	p.Y38fs			WXS	Illumina HiSeq	Phase_I	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		1	137_138	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		38					P00695|Q13170|Q9UCF8	Frame_Shift_Ins	INS	ENST00000261267.2	37	c.112_113insCC	CCDS8989.1																																																																																				0.465	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	0	NM_000239		12:69742300
LYZ	4069	broad.mit.edu	37	12	69742301	69742302	+	In_Frame_Ins	INS	-	-	CCCTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:69742301_69742302insCCCTTT	ENST00000261267.2	+	1	181_182	c.113_114insCCCTTT	c.(112-117)tacagg>taCCCTTTcagg	p.38_39YR>YPFR	LYZ_ENST00000549690.1_In_Frame_Ins_p.38_39YR>YPFR|LYZ_ENST00000548839.1_In_Frame_Ins_p.38_39YR>YPFR	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	38					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	ATGGATGGCTACAGGGGAATCA	0.465																																						ENST00000549690.1		NA																	0				endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(112-117)tacagg>taCCCTTTcagg		lysozyme																																				SO:0001652	inframe_insertion	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69742301_69742302insCCCTTT	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"""renal amyloidosis"""	153450	"""lysozyme (renal amyloidosis)"""			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	Exception_encountered	12.37:g.69742301_69742302insCCCTTT	ENSP00000261267:p.Tyr38_Arg39insProPhe	False	False		Somatic	0				LYZ_ENST00000548839.1_In_Frame_Ins_p.38_39YR>YPFR|LYZ_ENST00000261267.2_In_Frame_Ins_p.38_39YR>YPFR	p.38_39YR>YPFR			WXS	Illumina HiSeq	Phase_I	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		1	138_139	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		38					P00695|Q13170|Q9UCF8	In_Frame_Ins	INS	ENST00000261267.2	37	c.113_114insCCCTTT	CCDS8989.1																																																																																				0.465	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2	0	NM_000239		12:69742301
SYT1	6857	broad.mit.edu	37	12	79679720	79679721	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:79679720_79679721insGG	ENST00000261205.4	+	5	977_978	c.320_321insGG	c.(319-324)gtaaaafs	p.K108fs	SYT1_ENST00000457153.2_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000552744.1_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.K108fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	108					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATGAAAGATGTAAAAGACTTAG	0.302																																						ENST00000261205.4		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(319-324)gtaaaafs		synaptotagmin I																																				SO:0001589	frameshift_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679720_79679721insGG		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	Exception_encountered	12.37:g.79679720_79679721insGG	ENSP00000261205:p.Lys108fs	True	False		Somatic	0				SYT1_ENST00000552744.1_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000457153.2_Frame_Shift_Ins_p.K108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.K108fs	p.K108fs	NM_005639.2	NP_005630.1	WXS	Illumina HiSeq	Phase_I	P21579	SYT1_HUMAN			5	977_978	+			108					Q6AI31	Frame_Shift_Ins	INS	ENST00000261205.4	37	c.320_321insGG	CCDS9017.1																																																																																				0.302	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	0	NM_005639		12:79679720
SYT1	6857	broad.mit.edu	37	12	79679721	79679722	+	Frame_Shift_Ins	INS	-	-	AAACCTTTTAACTCATGGGCTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:79679721_79679722insAAACCTTTTAACTCATGGGCTAT	ENST00000261205.4	+	5	978_979	c.321_322insAAACCTTTTAACTCATGGGCTAT	c.(322-324)aaafs	p.-108fs	SYT1_ENST00000457153.2_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000552744.1_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.-108fs	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGAAAGATGTAAAAGACTTAGG	0.302																																						ENST00000261205.4		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(322-324)aaafs		synaptotagmin I																																				SO:0001589	frameshift_variant	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79679721_79679722insAAACCTTTTAACTCATGGGCTAT		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	Exception_encountered	12.37:g.79679721_79679722insAAACCTTTTAACTCATGGGCTAT	ENSP00000261205:p.Lys108fs	True	False		Somatic	0				SYT1_ENST00000552744.1_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000457153.2_Frame_Shift_Ins_p.-108fs|SYT1_ENST00000393240.3_Frame_Shift_Ins_p.-108fs	p.-108fs	NM_005639.2	NP_005630.1	WXS	Illumina HiSeq	Phase_I	P21579	SYT1_HUMAN			5	978_979	+			NA					Q6AI31	Frame_Shift_Ins	INS	ENST00000261205.4	37	c.321_322insAAACCTTTTAACTCATGGGCTAT	CCDS9017.1																																																																																				0.302	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	0	NM_005639		12:79679721
PRDM4	11108	broad.mit.edu	37	12	108145479	108145480	+	Frame_Shift_Ins	INS	-	-	GTCTTTCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:108145479_108145480insGTCTTTCT	ENST00000228437.5	-	5	1297_1298	c.838_839insAGAAAGAC	c.(838-840)atgfs	p.M280fs	RP11-864J10.4_ENST00000546714.1_RNA|PRDM4_ENST00000547268.1_5'Flank	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	280					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						ACTGTCAGACATGCCATTGACC	0.545																																						ENST00000228437.5		NA																	0				biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						c.(838-840)atgfs		PR domain containing 4																																				SO:0001589	frameshift_variant	11108				cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr12:108145479_108145480insGTCTTTCT	AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.838_839insAGAAAGAC	12.37:g.108145479_108145480insGTCTTTCT	ENSP00000228437:p.Met280fs	False	False		Somatic	0				RP11-864J10.4_ENST00000546714.1_RNA	p.M280fs	NM_012406.3	NP_036538.3	WXS	Illumina HiSeq	Phase_I	Q9UKN5	PRDM4_HUMAN			5	1297_1298	-			280					Q9UFA6	Frame_Shift_Ins	INS	ENST00000228437.5	37	c.838_839insAGAAAGAC	CCDS9115.1																																																																																				0.545	PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	0	NM_012406		12:108145479
LCE1F	353137	broad.mit.edu	37	1	152748914	152748928	+	In_Frame_Del	DEL	AAGTGCCCCACACCG	AAGTGCCCCACACCG	-	rs202168792|rs554010131	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AAGTGCCCCACACCG	AAGTGCCCCACACCG	-	-	AAGTGCCCCACACCG	AAGTGCCCCACACCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:152748914_152748928delAAGTGCCCCACACCG	ENST00000334371.2	+	1	67_81	c.67_81delAAGTGCCCCACACCG	c.(67-81)aagtgccccacaccgdel	p.KCPTP23del		NM_178354.2	NP_848131.1	Q5T754	LCE1F_HUMAN	late cornified envelope 1F	23	Pro-rich.				keratinization (GO:0031424)					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			gtgccctcccaagtgccccacaccgaagtgccccc	0.651														29	0.00579073	0.0212	0.0	5008	,	,		17167	0.0		0.001	False		,,,				2504	0.0					ENST00000334371.2		NA																	0				kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(67-81)aagtgccccacaccgdel		late cornified envelope 1F				83,4183		1,81,2051						0.7	0.8			59	11,8243		4,3,4120	no	coding	LCE1F	NM_178354.2		5,84,6171	A1A1,A1R,RR		0.1333,1.9456,0.7508				94,12426				SO:0001651	inframe_deletion	353137				keratinization			g.chr1:152748914_152748928delAAGTGCCCCACACCG		CCDS1023.1	1q21.3	2008-02-05			ENSG00000240386	ENSG00000240386		"""Late cornified envelopes"""	29467	protein-coding gene	gene with protein product		612608				11698679	Standard	NM_178354		Approved	LEP6	uc010pdv.2	Q5T754	OTTHUMG00000012403	ENST00000334371.2:c.67_81delAAGTGCCCCACACCG	1.37:g.152748914_152748928delAAGTGCCCCACACCG	ENSP00000334187:p.Lys23_Pro27del	True	False		Somatic	1					p.KCPTP23del	NM_178354.2	NP_848131.1	WXS	Illumina HiSeq	Phase_I	Q5T754	LCE1F_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		1	67_81	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		23			Pro-rich.			In_Frame_Del	DEL	ENST00000334371.2	37	c.67_81delAAGTGCCCCACACCG	CCDS1023.1																																																																																				0.651	LCE1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034523.2	0	NM_178354		1:152748914
NUP210L	91181	broad.mit.edu	37	1	154030623	154030624	+	In_Frame_Ins	INS	-	-	CAGATTTTCTCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:154030623_154030624insCAGATTTTCTCC	ENST00000368559.3	-	22	3119_3120	c.3048_3049insGGAGAAAATCTG	c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa	p.1016_1017NK>NGENLK	NUP210L_ENST00000368553.1_5'Flank|NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1016					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGAAGTATTTATTTTGGAATG	0.386																																						ENST00000368559.3		NA																	0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(3046-3051)aataaa>aatGGAGAAAATCTGaaa		nucleoporin 210kDa-like																																				SO:0001652	inframe_insertion	91181					integral to membrane		g.chr1:154030623_154030624insCAGATTTTCTCC	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.3048_3049insGGAGAAAATCTG	1.37:g.154030623_154030624insCAGATTTTCTCC	ENSP00000357547:p.Asn1016_Lys1017insGlyGluAsnLeu	True	False		Somatic	0				NUP210L_ENST00000271854.3_In_Frame_Ins_p.1016_1017NK>NGENLK	p.1016_1017NK>NGENLK	NM_207308.2	NP_997191.2	WXS	Illumina HiSeq	Phase_I	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		22	3119_3120	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1016					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	In_Frame_Ins	INS	ENST00000368559.3	37	c.3048_3049insGGAGAAAATCTG	CCDS41399.1																																																																																				0.386	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	0	NM_207308		1:154030623
NEK5	341676	broad.mit.edu	37	13	52701739	52701740	+	De_novo_Start_OutOfFrame	INS	-	-	GGGAAATCAGATAGCAAGCACTGTGTCAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:52701739_52701740insGGGAAATCAGATAGCAAGCACTGTGTCAT	ENST00000355568.4	-	0	108_109					NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5						positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ACTTAGCTAAAACTTTCCTCCC	0.386																																						ENST00000355568.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39								NIMA-related kinase 5																																						341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52701739_52701740insGGGAAATCAGATAGCAAGCACTGTGTCAT	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.-32->ATGACACAGTGCTTGCTATCTGATTTCCC	13.37:g.52701739_52701740insGGGAAATCAGATAGCAAGCACTGTGTCAT		True	False		Somatic	0						NM_199289.1	NP_954983.1	WXS	Illumina HiSeq	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	0	108_109	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	NA					Q5TAP5	Translation_Start_Site	INS	ENST00000355568.4	37		CCDS31979.1																																																																																				0.386	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	0	NM_199289		13:52701739
MYCBP2	23077	broad.mit.edu	37	13	77672728	77672729	+	Frame_Shift_Ins	INS	-	-	CAAAGGATTCTACAGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:77672728_77672729insCAAAGGATTCTACAGA	ENST00000544440.2	-	56	8463_8464	c.8446_8447insTCTGTAGAATCCTTTG	c.(8446-8448)agtfs	p.S2816fs	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.S339fs|MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.S2816fs|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.S2854fs					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGGAGCAGTACTTTTTTGAGGT	0.47																																						ENST00000544440.2		NA																	0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(8446-8448)agtfs		MYC binding protein 2, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	23077				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding	g.chr13:77672728_77672729insCAAAGGATTCTACAGA	AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.8446_8447insTCTGTAGAATCCTTTG	13.37:g.77672728_77672729insCAAAGGATTCTACAGA	ENSP00000444596:p.Ser2816fs	True	False		Somatic	0				MYCBP2_ENST00000482517.1_5'UTR|MYCBP2_ENST00000407578.2_Frame_Shift_Ins_p.S2854fs|MYCBP2_ENST00000357337.6_Frame_Shift_Ins_p.S2816fs|MYCBP2_ENST00000360084.5_Frame_Shift_Ins_p.S339fs	p.S2816fs			WXS	Illumina HiSeq	Phase_I	O75592	MYCB2_HUMAN		GBM - Glioblastoma multiforme(99;0.109)	56	8463_8464	-		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)	2816						Frame_Shift_Ins	INS	ENST00000544440.2	37	c.8446_8447insTCTGTAGAATCCTTTG																																																																																					0.470	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	0	NM_015057		13:77672728
HAUS4	54930	broad.mit.edu	37	14	23417134	23417135	+	In_Frame_Ins	INS	-	-	ACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23417134_23417135insACT	ENST00000206474.7	-	7	902_903	c.650_651insAGT	c.(649-651)aag>aaAGTg	p.217_218insV	HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000397409.4_Intron|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	217					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						TCTGCTGGCTCTTGGCATCCTG	0.559																																						ENST00000206474.7		NA																	0				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						c.(649-651)aag>aaAGTg		HAUS augmin-like complex, subunit 4																																				SO:0001652	inframe_insertion	54930				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle		g.chr14:23417134_23417135insACT	AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.650_651insAGT	14.37:g.23417134_23417135insACT	ENSP00000206474:p.Lys217_Ser218insVal	False	False		Somatic	0				HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000342454.8_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000541587.1_In_Frame_Ins_p.217_218insV|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000397409.4_Intron|HAUS4_ENST00000555367.1_In_Frame_Ins_p.172_173insV|HAUS4_ENST00000555986.1_In_Frame_Ins_p.172_173insV|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000490506.1_In_Frame_Ins_p.93_94insV|RP11-298I3.5_ENST00000555074.1_In_Frame_Ins_p.46_47QE>QSE	p.217_218insV			WXS	Illumina HiSeq	Phase_I	Q9H6D7	HAUS4_HUMAN			7	902_903	-			217					B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	In_Frame_Ins	INS	ENST00000206474.7	37	c.650_651insAGT	CCDS9580.1																																																																																				0.559	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071680.3	0			14:23417134
KIAA0586	9786	broad.mit.edu	37	14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	ENST00000556134.1	+	17	2648_2649	c.2374_2375insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	c.(2374-2376)gatfs	p.D792fs	KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000423743.3_Frame_Shift_Ins_p.D763fs	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	792					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361																																						ENST00000423743.3		NA																	0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2287-2289)gatfs		KIAA0586																																				SO:0001589	frameshift_variant	9786							g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	Exception_encountered	14.37:g.58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	ENSP00000452351:p.Asp792fs	False	False		Somatic	0				KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000538571.2_3'UTR	p.D763fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	WXS	Illumina HiSeq	Phase_I	E9PGW8	E9PGW8_HUMAN			17	2545_2546	+			731					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Frame_Shift_Ins	INS	ENST00000556134.1	37	c.2287_2288insGAAAAGTCTAATATACCATCTGGATCTTAATGGTTAT	CCDS58321.1																																																																																				0.361	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	0	NM_014749		14:58934617
SNURF	8926	broad.mit.edu	37	15	25230366	25230367	+	Intron	INS	-	-	CTGCAGATAGTGTA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:25230366_25230367insCTGCAGATAGTGTA	ENST00000551312.2	+	6	1184				SNHG14_ENST00000551631.2_RNA|SNHG14_ENST00000551361.1_RNA|SNORD64_ENST00000386683.1_RNA|SNORD108_ENST00000459332.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AACATAAATTCTTAGACTCTAA	0.371																																						ENST00000551631.2		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr15:25230366_25230367insCTGCAGATAGTGTA		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+2782->CTGCAGATAGTGTA	15.37:g.25230366_25230367insCTGCAGATAGTGTA		False	False		Somatic	0				SNHG14_ENST00000551361.1_RNA		NR_001293.1		WXS	Illumina HiSeq	Phase_I					0	887	+			NA					A6NCW2	RNA	INS	ENST00000551312.2	37		CCDS10016.1																																																																																				0.371	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	0	NM_005678		15:25230366
MYO5A	4644	broad.mit.edu	37	15	52720764	52720765	+	In_Frame_Ins	INS	-	-	CTTATTTATACGTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:52720764_52720765insCTTATTTATACGTAT	ENST00000399231.3	-	3	383_384	c.140_141insATACGTATAAATAAG	c.(139-141)gat>gaATACGTATAAATAAGt	p.47_47D>EYV*IS	MYO5A_ENST00000356338.6_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000399233.2_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000358212.6_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000553916.1_In_Frame_Ins_p.47_47D>EYV*IS	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	47					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GGTATTCCAAATCCTGAAAATG	0.441																																						ENST00000399231.3		NA																	0				breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57						c.(139-141)gat>gaATACGTATAAATAAGt		myosin VA (heavy chain 12, myoxin)																																				SO:0001652	inframe_insertion	4644				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr15:52720764_52720765insCTTATTTATACGTAT		CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.140_141insATACGTATAAATAAG	15.37:g.52720764_52720765insCTTATTTATACGTAT	ENSP00000382177:p.Asp47delinsGluTyrVal*IleSer	True	False		Somatic	0				MYO5A_ENST00000358212.6_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000399233.2_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000553916.1_In_Frame_Ins_p.47_47D>EYV*IS|MYO5A_ENST00000356338.6_In_Frame_Ins_p.47_47D>EYV*IS	p.47_47D>EYV*IS	NM_000259.3	NP_000250.3	WXS	Illumina HiSeq	Phase_I	Q9Y4I1	MYO5A_HUMAN		all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)	3	383_384	-			47			Myosin head-like.		A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	In_Frame_Ins	INS	ENST00000399231.3	37	c.140_141insATACGTATAAATAAG	CCDS42037.1																																																																																				0.441	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268102.1	0	NM_000259		15:52720764
LACTB	114294	broad.mit.edu	37	15	63419711	63419712	+	Frame_Shift_Ins	INS	-	-	ATTCAATTACAATATTAACCTGAAAAAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:63419711_63419712insATTCAATTACAATATTAACCTGAAAAAT	ENST00000261893.4	+	4	847_848	c.775_776insATTCAATTACAATATTAACCTGAAAAAT	c.(775-777)aagfs	p.K259fs	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Frame_Shift_Ins_p.K259fs	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	259						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						AAGTAATGAAAAGAATGATTTT	0.332																																					Melanoma(85;443 1381 6215 27308 35583)	ENST00000413507.2		NA																	0				NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						c.(775-777)aagfs		lactamase, beta																																				SO:0001589	frameshift_variant	114294					mitochondrion	hydrolase activity	g.chr15:63419711_63419712insATTCAATTACAATATTAACCTGAAAAAT	AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	Exception_encountered	15.37:g.63419711_63419712insATTCAATTACAATATTAACCTGAAAAAT	ENSP00000261893:p.Lys259fs	True	False		Somatic	0				LACTB_ENST00000261893.4_Frame_Shift_Ins_p.K259fs|RPS27L_ENST00000559763.1_Intron	p.K259fs	NM_171846.2	NP_741982.1	WXS	Illumina HiSeq	Phase_I	P83111	LACTB_HUMAN			4	814_815	+			259					P83096	Frame_Shift_Ins	INS	ENST00000261893.4	37	c.775_776insATTCAATTACAATATTAACCTGAAAAAT	CCDS10182.1																																																																																				0.332	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	0	NM_032857		15:63419711
ZNF609	23060	broad.mit.edu	37	15	64791809	64791810	+	Frame_Shift_Ins	INS	-	-	TTTCCTATTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:64791809_64791810insTTTCCTATTT	ENST00000326648.3	+	1	319_320	c.191_192insTTTCCTATTT	c.(190-195)gctgtgfs	p.V65fs	ZNF609_ENST00000416172.1_Frame_Shift_Ins_p.V65fs	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	65						nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCCCAATGCTGTGGCCACAC	0.51																																						ENST00000326648.3		NA																	0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(190-195)gctgtgfs		zinc finger protein 609																																				SO:0001589	frameshift_variant	23060					nucleus	zinc ion binding	g.chr15:64791809_64791810insTTTCCTATTT	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		Exception_encountered	15.37:g.64791809_64791810insTTTCCTATTT	ENSP00000316527:p.Val65fs	False	False		Somatic	0				ZNF609_ENST00000416172.1_Frame_Shift_Ins_p.V65fs	p.V65fs	NM_015042.1	NP_055857.1	WXS	Illumina HiSeq	Phase_I	O15014	ZN609_HUMAN			1	319_320	+			65					Q0D2I2	Frame_Shift_Ins	INS	ENST00000326648.3	37	c.191_192insTTTCCTATTT	CCDS32270.1																																																																																				0.510	ZNF609-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418130.1	0	XM_042833		15:64791809
HEXA	3073	broad.mit.edu	37	15	72638920	72638921	+	Frame_Shift_Ins	INS	-	-	GATA	rs387906309		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:72638920_72638921insGATA	ENST00000268097.5	-	11	1780_1781	c.1277_1278insTATC	c.(1276-1278)tccfs	p.-426fs	HEXA_ENST00000429918.2_Frame_Shift_Ins_p.-253fs|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000566304.1_Frame_Shift_Ins_p.-437fs|HEXA_ENST00000567159.1_Frame_Shift_Ins_p.-426fs|RP11-106M3.2_ENST00000379915.4_RNA	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)						carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CAGGGCCATAGGATATACGGTT	0.54																																						ENST00000566304.1		NA																	0				breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24	GRCh37	CI880091	HEXA	I		c.(1309-1311)tccfs		hexosaminidase A (alpha polypeptide)				0,4264		0,0,2132						-9.8	0.0			127	13,8239		0,13,4113	no	frameshift	HEXA	NM_000520.4		0,13,6245	A1A1,A1R,RR		0.1575,0.0,0.1039				13,12503				SO:0001589	frameshift_variant	3073				cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	g.chr15:72638920_72638921insGATA	M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1274_1277dupTATC	15.37:g.72638921_72638924dupGATA	ENSP00000268097:p.Ser426fs	False	False		Somatic	1				HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Frame_Shift_Ins_p.-426fs|HEXA_ENST00000429918.2_Frame_Shift_Ins_p.-253fs|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000268097.5_Frame_Shift_Ins_p.-426fs	p.-437fs			WXS	Illumina HiSeq	Phase_I	P06865	HEXA_HUMAN			11	1330_1331	-			NA					B4DKE7|E7ENH7|Q53HS8|Q6AI32	Frame_Shift_Ins	INS	ENST00000268097.5	37	c.1310_1311insTATC	CCDS10243.1																																																																																				0.540	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	0	NM_000520		15:72638920
AKAP13	11214	broad.mit.edu	37	15	86118478	86118479	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:86118478_86118479insC	ENST00000394518.2	+	6	874_875	c.779_780insC	c.(778-783)gattcafs	p.S261fs	AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	261					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCTGAGTCTGATTCACATCATG	0.416																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(778-783)gattcafs		A kinase (PRKA) anchor protein 13																																				SO:0001589	frameshift_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86118478_86118479insC	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		Exception_encountered	15.37:g.86118478_86118479insC	ENSP00000378026:p.Ser261fs	False	False		Somatic	0				AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.S261fs	p.S261fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			6	874_875	+			261					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.779_780insC	CCDS32319.1																																																																																				0.416	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86118478
ABCA3	21	broad.mit.edu	37	16	2334961	2334962	+	In_Frame_Ins	INS	-	-	ACGGAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:2334961_2334962insACGGAG	ENST00000301732.5	-	24	4221_4222	c.3521_3522insCTCCGT	c.(3520-3522)cgg>cgCTCCGTg	p.1174_1175insSV	ABCA3_ENST00000382381.3_In_Frame_Ins_p.1116_1117insSV	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1174					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGTGGCCGTCCCGCGTGAAGGC	0.629																																						ENST00000382381.3		NA																	0				breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70						c.(3346-3348)cgg>cgCTCCGTg		ATP-binding cassette, sub-family A (ABC1), member 3																																				SO:0001652	inframe_insertion	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2334961_2334962insACGGAG	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3521_3522insCTCCGT	16.37:g.2334961_2334962insACGGAG	ENSP00000301732:p.Arg1174_Asp1175insSerVal	True	False		Somatic	0				ABCA3_ENST00000301732.5_In_Frame_Ins_p.1174_1175insSV	p.1116_1117insSV			WXS	Illumina HiSeq	Phase_I	Q99758	ABCA3_HUMAN			23	4058_4059	-		Ovarian(90;0.17)	1174					B2RU09|Q54A95|Q6P5P9|Q92473	In_Frame_Ins	INS	ENST00000301732.5	37	c.3347_3348insCTCCGT	CCDS10466.1																																																																																				0.629	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	0	NM_001089		16:2334961
ACSM5	54988	broad.mit.edu	37	16	20448624	20448625	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:20448624_20448625insT	ENST00000331849.4	+	12	1618_1619	c.1471_1472insT	c.(1471-1473)ctgfs	p.L491fs	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	491					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGAAAGTGCCCTGGCAGAGCAT	0.564																																						ENST00000331849.4		NA																	0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1471-1473)ctgfs		acyl-CoA synthetase medium-chain family member 5																																				SO:0001589	frameshift_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448624_20448625insT		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1472dupT	16.37:g.20448625_20448625dupT	ENSP00000327916:p.Leu491fs	True	False		Somatic	1					p.L491fs	NM_017888.2	NP_060358.2	WXS	Illumina HiSeq	Phase_I	Q6NUN0	ACSM5_HUMAN			12	1618_1619	+			491					Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	c.1471_1472insT	CCDS10585.1																																																																																				0.564	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	0	NM_017888		16:20448624
ACSM5	54988	broad.mit.edu	37	16	20448626	20448627	+	Frame_Shift_Ins	INS	-	-	TTCTGAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:20448626_20448627insTTCTGAT	ENST00000331849.4	+	12	1620_1621	c.1473_1474insTTCTGAT	c.(1474-1476)gcafs	p.A492fs	CTD-2194A8.2_ENST00000574654.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	492					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAAGTGCCCTGGCAGAGCATCC	0.559																																						ENST00000331849.4		NA																	0				breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						c.(1474-1476)gcafs		acyl-CoA synthetase medium-chain family member 5																																				SO:0001589	frameshift_variant	54988				fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	g.chr16:20448626_20448627insTTCTGAT		CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	Exception_encountered	16.37:g.20448626_20448627insTTCTGAT	ENSP00000327916:p.Ala492fs	False	False		Somatic	0					p.A492fs	NM_017888.2	NP_060358.2	WXS	Illumina HiSeq	Phase_I	Q6NUN0	ACSM5_HUMAN			12	1620_1621	+			492					Q96AV1|Q96CX8|Q9NWV3	Frame_Shift_Ins	INS	ENST00000331849.4	37	c.1473_1474insTTCTGAT	CCDS10585.1																																																																																				0.559	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254413.1	0	NM_017888		16:20448626
ITGAM	3684	broad.mit.edu	37	16	31332934	31332935	+	In_Frame_Ins	INS	-	-	CCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:31332934_31332935insCCT	ENST00000287497.8	+	16	2063_2064	c.1988_1989insCCT	c.(1987-1992)gatcgg>gaCCTtcgg	p.663_664DR>DLR	ITGAM_ENST00000544665.3_In_Frame_Ins_p.664_665DR>DLR			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	663					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AGCACACGGGATCGGCTAAGAG	0.53																																						ENST00000544665.3		NA																	0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1990-1995)gatcgg>gaCCTtcgg		integrin, alpha M (complement component 3 receptor 3 subunit)																																				SO:0001652	inframe_insertion	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332934_31332935insCCT	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		Exception_encountered	16.37:g.31332934_31332935insCCT	ENSP00000287497:p.Asp663_Arg664insLeu	False	False		Somatic	0				ITGAM_ENST00000287497.8_In_Frame_Ins_p.663_664DR>DLR	p.664_665DR>DLR	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina HiSeq	Phase_I	P11215	ITAM_HUMAN			16	2062_2063	+			663					Q4VAK0|Q4VAK1|Q4VAK2	In_Frame_Ins	INS	ENST00000287497.8	37	c.1991_1992insCCT	CCDS45470.1																																																																																				0.530	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	0	NM_000632		16:31332934
ITGAM	3684	broad.mit.edu	37	16	31332936	31332937	+	Frame_Shift_Ins	INS	-	-	AAACA	rs372150584		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:31332936_31332937insAAACA	ENST00000287497.8	+	16	2065_2066	c.1990_1991insAAACA	c.(1990-1992)cggfs	p.R664fs	ITGAM_ENST00000544665.3_Frame_Shift_Ins_p.R665fs			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	664					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CACACGGGATCGGCTAAGAGAA	0.53																																						ENST00000544665.3		NA																	0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1993-1995)cggfs		integrin, alpha M (complement component 3 receptor 3 subunit)																																				SO:0001589	frameshift_variant	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31332936_31332937insAAACA	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		Exception_encountered	16.37:g.31332936_31332937insAAACA	ENSP00000287497:p.Arg664fs	False	False		Somatic	0				ITGAM_ENST00000287497.8_Frame_Shift_Ins_p.R664fs	p.R665fs	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	WXS	Illumina HiSeq	Phase_I	P11215	ITAM_HUMAN			16	2064_2065	+			664					Q4VAK0|Q4VAK1|Q4VAK2	Frame_Shift_Ins	INS	ENST00000287497.8	37	c.1993_1994insAAACA	CCDS45470.1																																																																																				0.530	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	0	NM_000632		16:31332936
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
PRDM7	11105	broad.mit.edu	37	16	90160897	90160898	+	5'Flank	INS	-	-	GCG	rs373749795		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:90160897_90160898insGCG	ENST00000569206.1	-	0	0				TUBB8P7_ENST00000567960.1_RNA|TUBB8P7_ENST00000564451.1_RNA			Q9NQW5	PRDM7_HUMAN	PR domain containing 7						regulation of transcription, DNA-templated (GO:0006355)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|nucleic acid binding (GO:0003676)			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCCTGGGAACGCGGCCCTCCC	0.728																																						ENST00000564451.1		NA																	0					NA																																												SO:0001631	upstream_gene_variant	0							g.chr16:90160897_90160898insGCG	AF274347	CCDS45557.1	16q24.3	2013-01-09			ENSG00000126856	ENSG00000126856		"""Zinc fingers, C2H2-type"", ""-"""	9351	protein-coding gene	gene with protein product		609759				17916234	Standard	NM_001098173		Approved	ZNF910	uc010cje.3	Q9NQW5	OTTHUMG00000138990		16.37:g.90160898_90160900dupGCG	Exception_encountered	False	False		Somatic	1				TUBB8P7_ENST00000567960.1_RNA				WXS	Illumina HiSeq	Phase_I					0	848_849	+			NA					A4Q9G8|Q08EM4|Q9NQW4	RNA	INS	ENST00000569206.1	37																																																																																						0.728	PRDM7-009	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000420855.1	0			16:90160897
ZNF18	7566	broad.mit.edu	37	17	11881333	11881334	+	Frame_Shift_Ins	INS	-	-	TCAAGAGGAATTGTGTCTAAGAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:11881333_11881334insTCAAGAGGAATTGTGTCTAAGAG	ENST00000322748.3	-	9	2194_2195	c.1590_1591insCTCTTAGACACAATTCCTCTTGA	c.(1588-1593)agctggfs	p.W531fs	ZNF18_ENST00000454073.3_Frame_Shift_Ins_p.W530fs|RP11-1096G20.5_ENST00000580270.1_RNA|ZNF18_ENST00000580306.2_Frame_Shift_Ins_p.W531fs	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	531					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		CTCGAGCTCCAGCTGAAACTTT	0.426																																						ENST00000322748.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14						c.(1588-1593)agctggfs		zinc finger protein 18																																				SO:0001589	frameshift_variant	7566				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:11881333_11881334insTCAAGAGGAATTGTGTCTAAGAG	X52342	CCDS32568.1	17p12	2013-01-09	2006-05-10		ENSG00000154957	ENSG00000154957		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12969	protein-coding gene	gene with protein product		194524	"""zinc finger protein 18 (KOX 11)"""			15702252	Standard	XM_005256786		Approved	ZKSCAN6, KOX11, HDSG1, Zfp535, ZNF535, ZSCAN38	uc002gng.1	P17022	OTTHUMG00000178307	ENST00000322748.3:c.1590_1591insCTCTTAGACACAATTCCTCTTGA	17.37:g.11881333_11881334insTCAAGAGGAATTGTGTCTAAGAG	ENSP00000315664:p.Trp531fs	False	False		Somatic	0				ZNF18_ENST00000580306.1_Frame_Shift_Ins_p.W531fs|ZNF18_ENST00000454073.3_Frame_Shift_Ins_p.W530fs|ZNF18_ENST00000580613.1_3'UTR	p.W531fs	NM_144680.2	NP_653281.2	WXS	Illumina HiSeq	Phase_I	P17022	ZNF18_HUMAN		Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)	9	2194_2195	-			531					Q5QHQ3|Q8IYC4|Q8NAH6	Frame_Shift_Ins	INS	ENST00000322748.3	37	c.1590_1591insCTCTTAGACACAATTCCTCTTGA	CCDS32568.1																																																																																				0.426	ZNF18-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441450.2	0	XM_085596		17:11881333
NCOR1	9611	broad.mit.edu	37	17	15961041	15961042	+	Frame_Shift_Ins	INS	-	-	GACAAATCCAGGGGAAGGTA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15961041_15961042insGACAAATCCAGGGGAAGGTA	ENST00000268712.3	-	40	6435_6436	c.6178_6179insTACCTTCCCCTGGATTTGTC	c.(6178-6180)acafs	p.T2060fs	NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.T644fs|NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1957fs	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2060	ID1. {ECO:0000250}.|Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|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)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AAAATCTTGTGTGATAATTTGC	0.351																																						ENST00000268712.3		NA																	0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107						c.(6178-6180)acafs		nuclear receptor corepressor 1																																				SO:0001589	frameshift_variant	9611				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	g.chr17:15961041_15961042insGACAAATCCAGGGGAAGGTA	AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.6178_6179insTACCTTCCCCTGGATTTGTC	17.37:g.15961041_15961042insGACAAATCCAGGGGAAGGTA	ENSP00000268712:p.Thr2060fs	True	False		Somatic	0				NCOR1_ENST00000395851.1_Frame_Shift_Ins_p.T1957fs|NCOR1_ENST00000395857.3_Frame_Shift_Ins_p.T644fs	p.T2060fs	NM_006311.3	NP_006302.2	WXS	Illumina HiSeq	Phase_I	O75376	NCOR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)	40	6435_6436	-			2060			ID1 (By similarity).|Interaction with C1D (By similarity).		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Frame_Shift_Ins	INS	ENST00000268712.3	37	c.6178_6179insTACCTTCCCCTGGATTTGTC	CCDS11175.1																																																																																				0.351	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131751.5	0	NM_006311		17:15961041
FAM20B	9917	broad.mit.edu	37	1	179013286	179013287	+	In_Frame_Ins	INS	-	-	ATCTAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:179013286_179013287insATCTAA	ENST00000263733.4	+	2	640_641	c.304_305insATCTAA	c.(304-306)ggt>gATCTAAgt	p.102_102G>DLS		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	102						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AGCTGATGTGGGTTATAAAGGG	0.485																																						ENST00000263733.4		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						c.(304-306)ggt>gATCTAAgt		family with sequence similarity 20, member B																																				SO:0001652	inframe_insertion	9917					Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor	g.chr1:179013286_179013287insATCTAA	AB007944	CCDS1328.1	1q25.2	2013-04-29			ENSG00000116199	ENSG00000116199			23017	protein-coding gene	gene with protein product	"""glycosaminoglycan xylosylkinase"""	611063				9455484, 19473117	Standard	NM_014864		Approved	KIAA0475, GXK1	uc001gmc.3	O75063	OTTHUMG00000035073	Exception_encountered	1.37:g.179013286_179013287insATCTAA	ENSP00000263733:p.Gly102delinsAspLeuSer	True	False		Somatic	0					p.102_102G>DLS	NM_014864.3	NP_055679.1	WXS	Illumina HiSeq	Phase_I	O75063	XYLK_HUMAN			2	640_641	+			102					Q5W0C3|Q5W0C4	In_Frame_Ins	INS	ENST00000263733.4	37	c.304_305insATCTAA	CCDS1328.1																																																																																				0.485	FAM20B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084922.1	0	NM_014864		1:179013286
AXDND1	126859	broad.mit.edu	37	1	179414303	179414304	+	Frame_Shift_Ins	INS	-	-	TCTTTTTTCTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:179414303_179414304insTCTTTTTTCTC	ENST00000367618.3	+	16	2149_2150	c.1762_1763insTCTTTTTTCTC	c.(1762-1764)tacfs	p.Y588fs	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.Y588fs	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	588										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						ACAAAAACTCTACAAAGAATAT	0.312																																						ENST00000367618.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						c.(1762-1764)tacfs		axonemal dynein light chain domain containing 1																																				SO:0001589	frameshift_variant	126859							g.chr1:179414303_179414304insTCTTTTTTCTC	BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	Exception_encountered	1.37:g.179414303_179414304insTCTTTTTTCTC	ENSP00000356590:p.Tyr588fs	False	False		Somatic	0				AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Frame_Shift_Ins_p.Y588fs	p.Y588fs	NM_144696.4	NP_653297.3	WXS	Illumina HiSeq	Phase_I	Q5T1B0	AXDN1_HUMAN			16	2149_2150	+			588					Q6AWB2|Q96LJ3|Q96M01	Frame_Shift_Ins	INS	ENST00000367618.3	37	c.1762_1763insTCTTTTTTCTC	CCDS30948.1																																																																																				0.312	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085312.1	0	NM_144696		1:179414303
EFCAB5	374786	broad.mit.edu	37	17	28405424	28405425	+	Frame_Shift_Ins	INS	-	-	AAATTGTTTTGAAGACAATCTCACTT	rs374481536		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:28405424_28405425insAAATTGTTTTGAAGACAATCTCACTT	ENST00000394835.3	+	15	3121_3122	c.2929_2930insAAATTGTTTTGAAGACAATCTCACTT	c.(2929-2931)gccfs	p.A977fs	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.A853fs	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	977							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GAGGAATTCTGCCAGGCGGAAA	0.495																																						ENST00000394835.3		NA																	0				breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(2929-2931)gccfs		EF-hand calcium binding domain 5																																				SO:0001589	frameshift_variant	374786						calcium ion binding	g.chr17:28405424_28405425insAAATTGTTTTGAAGACAATCTCACTT	AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	Exception_encountered	17.37:g.28405424_28405425insAAATTGTTTTGAAGACAATCTCACTT	ENSP00000378312:p.Ala977fs	False	False		Somatic	0				EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Frame_Shift_Ins_p.A853fs	p.A977fs	NM_198529.3	NP_940931.2	WXS	Illumina HiSeq	Phase_I	A4FU69	EFCB5_HUMAN			15	3121_3122	+			977					B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Frame_Shift_Ins	INS	ENST00000394835.3	37	c.2929_2930insAAATTGTTTTGAAGACAATCTCACTT	CCDS11254.2																																																																																				0.495	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4	0	NM_198529		17:28405424
C17orf75	64149	broad.mit.edu	37	17	30665340	30665341	+	In_Frame_Ins	INS	-	-	GTGGAAGAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:30665340_30665341insGTGGAAGAA	ENST00000577809.1	-	4	426_427	c.377_378insTTCTTCCAC	c.(376-378)tac>taTTCTTCCACc	p.126_127insSST	RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_In_Frame_Ins_p.126_127insSST	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	126										ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGAAAAGGCAGTAATAACAACC	0.356																																						ENST00000577809.1		NA																	0				ovary(1)	1						c.(376-378)tac>taTTCTTCCACc		chromosome 17 open reading frame 75																																				SO:0001652	inframe_insertion	64149				spermatogenesis			g.chr17:30665340_30665341insGTGGAAGAA	AB062437	CCDS58537.1	17q11.2	2013-01-21			ENSG00000108666	ENSG00000108666			30173	protein-coding gene	gene with protein product							Standard	NM_022344		Approved	NJMU-R1	uc002hhg.3	Q9HAS0		ENST00000577809.1:c.377_378insTTCTTCCAC	17.37:g.30665340_30665341insGTGGAAGAA	ENSP00000464275:p.Tyr126_Cys127insSerSerThr	False	False		Somatic	0				RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_In_Frame_Ins_p.126_127insSST	p.126_127insSST	NM_022344.3	NP_071739.2	WXS	Illumina HiSeq	Phase_I	Q9HAS0	NJMU_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		4	426_427	-		Breast(31;0.116)|Ovarian(249;0.182)	126					Q7Z2H4	In_Frame_Ins	INS	ENST00000577809.1	37	c.377_378insTTCTTCCAC	CCDS58537.1																																																																																				0.356	C17orf75-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447204.1	0	NM_022344		17:30665340
GGNBP2	79893	broad.mit.edu	37	17	34937916	34937917	+	In_Frame_Ins	INS	-	-	ATATTGGTCAGAACTTCTTTTCTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:34937916_34937917insATATTGGTCAGAACTTCTTTTCTT	ENST00000304718.4	+	9	1479_1480	c.1163_1164insATATTGGTCAGAACTTCTTTTCTT	c.(1162-1167)gatatt>gaATATTGGTCAGAACTTCTTTTCTTtatt	p.388_388D>EYWSELLFF		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	388					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TGTGTGTGTGATATTCCTACTC	0.356																																						ENST00000304718.4		NA																	0				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38						c.(1162-1167)gatatt>gaATATTGGTCAGAACTTCTTTTCTTtatt		gametogenetin binding protein 2																																				SO:0001652	inframe_insertion	79893				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		g.chr17:34937916_34937917insATATTGGTCAGAACTTCTTTTCTT	AF126964	CCDS11314.1	17q21.1	2014-05-06	2007-08-20	2007-08-20	ENSG00000005955	ENSG00000278311			19357	protein-coding gene	gene with protein product		612275	"""zinc finger protein 403"""	ZNF403		11728448	Standard	NM_024835		Approved	ZFP403, LZK1, FLJ22561, FLJ21230, DIF-3, DIF3	uc002hnb.3	Q9H3C7	OTTHUMG00000188440	Exception_encountered	17.37:g.34937916_34937917insATATTGGTCAGAACTTCTTTTCTT	ENSP00000307617:p.Asp388delinsGluTyrTrpSerGluLeuLeuPhePhe	False	False		Somatic	0					p.388_388D>EYWSELLFF	NM_024835.3	NP_079111.1	WXS	Illumina HiSeq	Phase_I	Q9H3C7	GGNB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)	9	1479_1480	+		Breast(25;0.00957)|Ovarian(249;0.17)	388					B2RPK7|Q96T90|Q9GZR8|Q9H767	In_Frame_Ins	INS	ENST00000304718.4	37	c.1163_1164insATATTGGTCAGAACTTCTTTTCTT	CCDS11314.1																																																																																				0.356	GGNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256684.2	0	NM_024835		17:34937916
HELZ	9931	broad.mit.edu	37	17	65103457	65103458	+	In_Frame_Ins	INS	-	-	GAAAAATATCAGTATTTATTGATTTGATAATAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:65103457_65103458insGAAAAATATCAGTATTTATTGATTTGATAATAG	ENST00000358691.5	-	31	5234_5235	c.5068_5069insCTATTATCAAATCAATAAATACTGATATTTTTC	c.(5068-5070)cag>cCTATTATCAAATCAATAAATACTGATATTTTTCag	p.1689_1690insPIIKSINTDIF	HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691insPIIKSINTDIF	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1689						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TAGGTGATTCTGTTGCAAGTTA	0.485																																						ENST00000358691.5		NA																	0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5068-5070)cag>cCTATTATCAAATCAATAAATACTGATATTTTTCag		helicase with zinc finger																																				SO:0001652	inframe_insertion	9931							g.chr17:65103457_65103458insGAAAAATATCAGTATTTATTGATTTGATAATAG	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5068_5069insCTATTATCAAATCAATAAATACTGATATTTTTC	17.37:g.65103457_65103458insGAAAAATATCAGTATTTATTGATTTGATAATAG	ENSP00000351524:p.Gln1689_Gln1690insProIleIleLysSerIleAsnThrAspIlePhe	False	False		Somatic	0				HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691insPIIKSINTDIF	p.1689_1690insPIIKSINTDIF	NM_014877.3	NP_055692.2	WXS	Illumina HiSeq	Phase_I					31	5234_5235	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		NA					I6L9H4	In_Frame_Ins	INS	ENST00000358691.5	37	c.5068_5069insCTATTATCAAATCAATAAATACTGATATTTTTC	CCDS42374.1																																																																																				0.485	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	0	NM_014877		17:65103457
ABCA6	23460	broad.mit.edu	37	17	67121170	67121171	+	Frame_Shift_Ins	INS	-	-	TTCTCTGTCCTCTACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:67121170_67121171insTTCTCTGTCCTCTACA	ENST00000284425.2	-	9	1299_1300	c.1125_1126insTGTAGAGGACAGAGAA	c.(1123-1128)atcaaafs	p.IK375fs		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	375					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAATCCAGTTTGATAATCTAAG	0.267																																						ENST00000284425.2		NA																	0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(1123-1128)atcaaafs		ATP-binding cassette, sub-family A (ABC1), member 6																																				SO:0001589	frameshift_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67121170_67121171insTTCTCTGTCCTCTACA	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.1125_1126insTGTAGAGGACAGAGAA	17.37:g.67121170_67121171insTTCTCTGTCCTCTACA	ENSP00000284425:p.Ile375fs	True	False		Somatic	0					p.IK375fs	NM_080284.2	NP_525023.2	WXS	Illumina HiSeq	Phase_I	Q8N139	ABCA6_HUMAN			9	1299_1300	-	Breast(10;5.65e-12)		375					Q6NSH9|Q8N856|Q8WWZ6	Frame_Shift_Ins	INS	ENST00000284425.2	37	c.1125_1126insTGTAGAGGACAGAGAA	CCDS11683.1																																																																																				0.267	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	0	NM_080284		17:67121170
QRICH2	84074	broad.mit.edu	37	17	74288565	74288567	+	In_Frame_Del	DEL	TGA	TGA	-	rs35035566|rs79093440|rs34007000	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGA	TGA	-	-	TGA	TGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:74288565_74288567delTGA	ENST00000262765.5	-	4	1922_1924	c.1743_1745delTCA	c.(1741-1746)catcag>cag	p.H581del		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	581	Gln-rich.							p.H581Q(5)|p.Q582R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAAACCACGCTGATGATCTGCAC	0.537														2352	0.469649	0.7073	0.3098	5008	,	,		27303	0.5734		0.2753	False		,,,				2504	0.3548					ENST00000262765.5		NA																	6	Substitution - Missense(6)	p.H581Q(5)|p.Q582R(1)	kidney(4)|lung(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						c.(1741-1746)catcag>cag		glutamine rich 2				2830,1434		943,944,245						1.4	0.0		dbSNP_126	148	2377,5877		324,1729,2074	no	coding	QRICH2	NM_032134.1		1267,2673,2319	A1A1,A1R,RR		28.7982,33.6304,41.5961				5207,7311				SO:0001651	inframe_deletion	84074						protein binding	g.chr17:74288565_74288567delTGA	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.1743_1745delTCA	17.37:g.74288568_74288570delTGA	ENSP00000262765:p.His581del	False	False		Somatic	2					p.H581del	NM_032134.1	NP_115510.1	WXS	Illumina HiSeq	Phase_I	Q9H0J4	QRIC2_HUMAN			4	1922_1924	-			581			Gln-rich.		A2RRE1|Q96LM3	In_Frame_Del	DEL	ENST00000262765.5	37	c.1743_1745delTCA	CCDS32741.1																																																																																				0.537	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	0	NM_032134		17:74288565
USP36	57602	broad.mit.edu	37	17	76802360	76802361	+	In_Frame_Ins	INS	-	-	ACAGACAAA	rs370981846		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:76802360_76802361insACAGACAAA	ENST00000542802.3	-	15	2536_2537	c.2093_2094insTTTGTCTGT	c.(2092-2094)acc>acTTTGTCTGTc	p.698_699insLSV	USP36_ENST00000312010.6_In_Frame_Ins_p.698_699insLSV|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000449938.2_In_Frame_Ins_p.398_399insLSV			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	698					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CCCTCCACAGGGTGCTGGCCTG	0.5																																						ENST00000542802.2		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2092-2094)acc>acTTTGTCTGTc		ubiquitin specific peptidase 36																																				SO:0001652	inframe_insertion	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76802360_76802361insACAGACAAA	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2093_2094insTTTGTCTGT	17.37:g.76802360_76802361insACAGACAAA	ENSP00000441214:p.Thr698_Leu699insLeuSerVal	True	False		Somatic	0				USP36_ENST00000312010.6_In_Frame_Ins_p.698_699insLSV|USP36_ENST00000449938.2_In_Frame_Ins_p.398_399insLSV	p.698_699insLSV			WXS	Illumina HiSeq	Phase_I	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		15	2536_2537	-			698					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	In_Frame_Ins	INS	ENST00000542802.3	37	c.2093_2094insTTTGTCTGT	CCDS32755.1																																																																																				0.500	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	0	NM_025090		17:76802360
PHLPP1	23239	broad.mit.edu	37	18	60639855	60639856	+	Frame_Shift_Ins	INS	-	-	TTATTTCAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr18:60639855_60639856insTTATTTCAAG	ENST00000262719.5	+	15	3903_3904	c.3669_3670insTTATTTCAAG	c.(3670-3672)actfs	p.T1224fs	PHLPP1_ENST00000400316.4_Frame_Shift_Ins_p.T712fs			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1224	PP2C-like.				apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						TTCTCCAGTGCACTATGAGTGA	0.455																																						ENST00000262719.5		NA																	0				endometrium(2)|kidney(2)|lung(13)	17						c.(3670-3672)actfs		PH domain and leucine rich repeat protein phosphatase 1																																				SO:0001589	frameshift_variant	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60639855_60639856insTTATTTCAAG	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	Exception_encountered	18.37:g.60639855_60639856insTTATTTCAAG	ENSP00000262719:p.Thr1224fs	False	False		Somatic	0				PHLPP1_ENST00000400316.4_Frame_Shift_Ins_p.T712fs	p.T1224fs			WXS	Illumina HiSeq	Phase_I	O60346	PHLP1_HUMAN			15	3903_3904	+			1224			PP2C-like.		A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Frame_Shift_Ins	INS	ENST00000262719.5	37	c.3669_3670insTTATTTCAAG	CCDS45881.2																																																																																				0.455	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	0	NM_194449		18:60639855
CYB5R1	51706	broad.mit.edu	37	1	202931786	202931789	+	Frame_Shift_Del	DEL	GGAT	GGAT	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GGAT	GGAT	-	-	GGAT	GGAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:202931786_202931789delGGAT	ENST00000367249.4	-	9	858_861	c.784_787delATCC	c.(784-789)atccggfs	p.IR262fs	CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	262					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AGGTGTTCCCGGATCATGTCGGCA	0.559																																						ENST00000367249.4		NA																	0				breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(784-789)atccggfs		cytochrome b5 reductase 1																																				SO:0001589	frameshift_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202931786_202931789delGGAT	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.784_787delATCC	1.37:g.202931786_202931789delGGAT	ENSP00000356218:p.Ile262fs	False	False		Somatic	1				CYB5R1_ENST00000497655.1_5'UTR	p.IR262fs	NM_016243.2	NP_057327.2	WXS	Illumina HiSeq	Phase_I	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		9	858_861	-			262					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Frame_Shift_Del	DEL	ENST00000367249.4	37	c.784_787delATCC	CCDS1431.1																																																																																				0.559	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1	0	NM_016243		1:202931786
PODNL1	79883	broad.mit.edu	37	19	14047267	14047268	+	In_Frame_Ins	INS	-	-	CCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:14047267_14047268insCCC	ENST00000339560.5	-	3	525_526	c.252_253insGGG	c.(250-255)aaccag>aacGGGcag	p.84_85NQ>NGQ	PODNL1_ENST00000538517.2_In_Frame_Ins_p.82_83NQ>NGQ|PODNL1_ENST00000538371.2_In_Frame_Ins_p.82_83NQ>NGQ|PODNL1_ENST00000254320.3_In_Frame_Ins_p.24_25insG	NM_024825.3	NP_079101.3	Q6PEZ8	PONL1_HUMAN	podocan-like 1	84	Leu-rich.					proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			TCCTGGAGCTGGTTGTTCTGCA	0.589																																						ENST00000538517.2		NA																	0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8						c.(244-249)aaccag>aacGGGcag		podocan-like 1																																				SO:0001652	inframe_insertion	79883					proteinaceous extracellular matrix		g.chr19:14047267_14047268insCCC	AK027100	CCDS12300.1, CCDS54225.1, CCDS54226.1	19p13.12	2008-02-05							26275	protein-coding gene	gene with protein product						12477932	Standard	NM_024825		Approved	FLJ23447, SLRR5B	uc010xnj.2	Q6PEZ8		ENST00000339560.5:c.252_253insGGG	19.37:g.14047267_14047268insCCC	ENSP00000345175:p.Asn84_Gln85insGly	False	False		Somatic	0				PODNL1_ENST00000339560.5_In_Frame_Ins_p.84_85NQ>NGQ|PODNL1_ENST00000254320.3_In_Frame_Ins_p.24_25insG|PODNL1_ENST00000538371.2_In_Frame_Ins_p.82_83NQ>NGQ	p.82_83NQ>NGQ	NM_001146255.1	NP_001139727.1	WXS	Illumina HiSeq	Phase_I	Q6PEZ8	PONL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)		3	490_491	-			155			Leu-rich.		B7Z564|Q9H5G9	In_Frame_Ins	INS	ENST00000339560.5	37	c.246_247insGGG	CCDS12300.1																																																																																				0.589	PODNL1-003	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457967.1	0	NM_024825		19:14047267
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENST00000254325.4	-	9	1392_1436	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc	p.386_401GGGGGGGGGGGGGGSG>G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	386	Gly-rich.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			tccggtgctgccactgccacccccgccaccgcctcccccgccgccgccgccaccaccactgccac	0.71																																						ENST00000254325.4		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1156-1203)ggtggtggcggcggcggcgggggaggcggtggcgggggtggcagtggc>ggc		regulatory factor X, 1 (influences HLA class II expression)																																				SO:0001651	inframe_deletion	5989				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr19:14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	19.37:g.14083667_14083711delCCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	ENSP00000254325:p.Gly386_Ser400del	False	False		Somatic	1					p.386_401GGGGGGGGGGGGGGSG>G	NM_002918.4	NP_002909.4	WXS	Illumina HiSeq	Phase_I	P22670	RFX1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)		9	1392_1436	-			386			Gly-rich.			In_Frame_Del	DEL	ENST00000254325.4	37	c.1158_1202delTGGTGGCGGCGGCGGCGGGGGAGGCGGTGGCGGGGGTGGCAGTGG	CCDS12301.1																																																																																				0.710	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458510.1	0	NM_002918		19:14083667
EPHX3	79852	broad.mit.edu	37	19	15342180	15342181	+	Frame_Shift_Ins	INS	-	-	CTACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:15342180_15342181insCTACT	ENST00000221730.3	-	3	576_577	c.356_357insAGTAG	c.(355-357)gagfs	p.-119fs	EPHX3_ENST00000602233.1_Frame_Shift_Ins_p.-119fs|EPHX3_ENST00000435261.1_Frame_Shift_Ins_p.-119fs	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3							extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGCTCTGGAACTCCCGGAGCTG	0.634																																						ENST00000221730.3		NA																	0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						c.(355-357)gagfs		epoxide hydrolase 3																																				SO:0001589	frameshift_variant	79852					extracellular region	hydrolase activity	g.chr19:15342180_15342181insCTACT	AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.356_357insAGTAG	19.37:g.15342180_15342181insCTACT	ENSP00000221730:p.Glu119fs	True	False		Somatic	0				EPHX3_ENST00000435261.1_Frame_Shift_Ins_p.-119fs|EPHX3_ENST00000602233.1_Frame_Shift_Ins_p.-119fs	p.-119fs	NM_024794.2	NP_079070.1	WXS	Illumina HiSeq	Phase_I	Q9H6B9	EPHX3_HUMAN			3	576_577	-			NA					A3KMR3	Frame_Shift_Ins	INS	ENST00000221730.3	37	c.356_357insAGTAG	CCDS12327.1																																																																																				0.634	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465797.1	0	NM_024794		19:15342180
CAPN12	147968	broad.mit.edu	37	19	39224373	39224393	+	In_Frame_Del	DEL	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	-	rs367922180		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	-	-	AGGAGTTCATGGTTCCAGAGG	AGGAGTTCATGGTTCCAGAGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:39224373_39224393delAGGAGTTCATGGTTCCAGAGG	ENST00000328867.4	-	18	2215_2235	c.1907_1927delCCTCTGGAACCATGAACTCCT	c.(1906-1929)acctctggaaccatgaactcctac>aac	p.636_643TSGTMNSY>N	CAPN12_ENST00000601953.1_In_Frame_Del_p.487_494TSGTMNSY>N	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	636	Domain IV.|EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CTCAGCTCGTAGGAGTTCATGGTTCCAGAGGTGTCCTCATC	0.588																																						ENST00000328867.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1906-1929)acctctggaaccatgaactcctac>aac		calpain 12																																				SO:0001651	inframe_deletion	147968				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity	g.chr19:39224373_39224393delAGGAGTTCATGGTTCCAGAGG	BC014027	CCDS12519.1	19q13.2	2014-08-12			ENSG00000182472	ENSG00000182472		"""EF-hand domain containing"""	13249	protein-coding gene	gene with protein product		608839					Standard	NM_144691		Approved		uc002ojd.1	Q6ZSI9	OTTHUMG00000182525	ENST00000328867.4:c.1907_1927delCCTCTGGAACCATGAACTCCT	19.37:g.39224373_39224393delAGGAGTTCATGGTTCCAGAGG	ENSP00000331636:p.Thr636_Tyr643delinsAsn	False	False		Somatic	1				CAPN12_ENST00000601953.1_In_Frame_Del_p.487_494TSGTMNSY>N	p.636_643TSGTMNSY>N	NM_144691.3	NP_653292.2	WXS	Illumina HiSeq	Phase_I	Q6ZSI9	CAN12_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		18	2215_2235	-	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		636			Domain IV.|EF-hand.			In_Frame_Del	DEL	ENST00000328867.4	37	c.1907_1927delCCTCTGGAACCATGAACTCCT	CCDS12519.1																																																																																				0.588	CAPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462151.1	0			19:39224373
C4BPB	725	broad.mit.edu	37	1	207265131	207265132	+	Frame_Shift_Ins	INS	-	-	TGAAGAAGAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:207265131_207265132insTGAAGAAGAA	ENST00000243611.5	+	3	669_670	c.375_376insTGAAGAAGAA	c.(376-378)accfs	p.T126fs	C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	126	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)				breast(2)|lung(1)|ovary(1)	4						TAGAGGACCACACCTGGGCACC	0.45																																						ENST00000243611.5		NA																	0				breast(2)|lung(1)|ovary(1)	4						c.(376-378)accfs		complement component 4 binding protein, beta																																				SO:0001589	frameshift_variant	725				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region		g.chr1:207265131_207265132insTGAAGAAGAA	L11245	CCDS1476.1, CCDS31005.1	1q32	2008-07-18	2001-11-28		ENSG00000123843	ENSG00000123843			1328	protein-coding gene	gene with protein product	"""complement component 4 binding protein, beta chain"", ""C4b binding protein, beta chain"""	120831	"""complement component 4-binding protein, beta"""	C4BP		2300577, 8325877	Standard	XM_005273255		Approved		uc001hfj.3	P20851	OTTHUMG00000036035	Exception_encountered	1.37:g.207265131_207265132insTGAAGAAGAA	ENSP00000243611:p.Thr126fs	False	False		Somatic	0				C4BPB_ENST00000451804.2_Frame_Shift_Ins_p.T116fs|C4BPB_ENST00000391923.1_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367078.3_Frame_Shift_Ins_p.T126fs|C4BPB_ENST00000367076.3_Frame_Shift_Ins_p.T125fs	p.T126fs	NM_000716.3	NP_000707.1	WXS	Illumina HiSeq	Phase_I	P20851	C4BPB_HUMAN			3	669_670	+			126			Sushi 2.		A5JYP8|D3DT81|Q5VVR0|Q9BS25	Frame_Shift_Ins	INS	ENST00000243611.5	37	c.375_376insTGAAGAAGAA	CCDS1476.1																																																																																				0.450	C4BPB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087847.2	0	NM_000716		1:207265131
DEFB132	400830	broad.mit.edu	37	20	238436	238441	+	In_Frame_Del	DEL	TGGTCT	TGGTCT	-	rs66489228|rs398088193|rs371825938|rs79204234|rs74636637	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGGTCT	TGGTCT	-	-	TGGTCT	TGGTCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:238436_238441delTGGTCT	ENST00000382376.3	+	1	60_65	c.17_22delTGGTCT	c.(16-24)ctggtcttg>ctg	p.6_8LVL>L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	6					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						TTCCTGCTCCTGGTCTTGGCAGCCCT	0.515																																						ENST00000382376.3		NA																	0				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(16-24)ctggtcttg>ctg		defensin, beta 132				2698,1566		848,1002,282						2.2	0.7		dbSNP_130	87	4920,3332		1500,1920,706	no	coding	DEFB132	NM_207469.2		2348,2922,988	A1A1,A1R,RR		40.3781,36.7261,39.1339				7618,4898				SO:0001651	inframe_deletion	400830				defense response to bacterium	extracellular region		g.chr20:238436_238441delTGGTCT	AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.17_22delTGGTCT	20.37:g.238436_238441delTGGTCT	ENSP00000371813:p.Leu6_Val7del	False	False		Somatic	1					p.6_8LVL>L	NM_207469.2	NP_997352.1	WXS	Illumina HiSeq	Phase_I	Q7Z7B7	DB132_HUMAN			1	60_65	+			6					B2RP72|Q4QY40	In_Frame_Del	DEL	ENST00000382376.3	37	c.17_22delTGGTCT	CCDS12993.1																																																																																				0.515	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101365.1	0	NM_207469		20:238436
NAA20	51126	broad.mit.edu	37	20	20007556	20007557	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:20007556_20007557insA	ENST00000334982.4	+	4	579_580	c.298_299insA	c.(298-300)tcafs	p.S100fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	100	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						AGAGGAGATTTCAGAAAGGTGA	0.446																																						ENST00000310450.4		NA																	0				endometrium(3)|lung(2)|prostate(1)	6						c.(298-300)tcafs		N(alpha)-acetyltransferase 20, NatB catalytic subunit																																				SO:0001589	frameshift_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007556_20007557insA	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	Exception_encountered	20.37:g.20007556_20007557insA	ENSP00000335636:p.Ser100fs	True	False		Somatic	0				NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.S100fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.S88fs	p.S100fs	NM_181528.3	NP_852669.1	WXS	Illumina HiSeq	Phase_I	P61599	NAA20_HUMAN			4	385_386	+			100			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Frame_Shift_Ins	INS	ENST00000334982.4	37	c.298_299insA	CCDS13141.1																																																																																				0.446	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	0	NM_016100		20:20007556
NAA20	51126	broad.mit.edu	37	20	20007557	20007558	+	Frame_Shift_Ins	INS	-	-	ACATAAATAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:20007557_20007558insACATAAATAT	ENST00000334982.4	+	4	580_581	c.299_300insACATAAATAT	c.(298-303)tcagaafs	p.E101fs	NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	101	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GAGGAGATTTCAGAAAGGTGAG	0.446																																						ENST00000310450.4		NA																	0				endometrium(3)|lung(2)|prostate(1)	6						c.(298-303)tcagaafs		N(alpha)-acetyltransferase 20, NatB catalytic subunit																																				SO:0001589	frameshift_variant	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:20007557_20007558insACATAAATAT	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	Exception_encountered	20.37:g.20007557_20007558insACATAAATAT	ENSP00000335636:p.Glu101fs	False	False		Somatic	0				NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000334982.4_Frame_Shift_Ins_p.E101fs|NAA20_ENST00000398602.2_Frame_Shift_Ins_p.E89fs	p.E101fs	NM_181528.3	NP_852669.1	WXS	Illumina HiSeq	Phase_I	P61599	NAA20_HUMAN			4	386_387	+			101			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Frame_Shift_Ins	INS	ENST00000334982.4	37	c.299_300insACATAAATAT	CCDS13141.1																																																																																				0.446	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	0	NM_016100		20:20007557
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:46279833_46279834delGC	ENST00000371998.3	+	20	3950_3951	c.3759_3760delGC	c.(3757-3762)cagcaafs	p.QQ1253fs	NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000372004.3_Frame_Shift_Del_p.QQ1249fs			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55																																						ENST00000372004.3		NA																	0				breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3745-3750)cagcaafs		nuclear receptor coactivator 3																																				SO:0001589	frameshift_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279833_46279834delGC	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3759_3760delGC	20.37:g.46279833_46279834delGC	ENSP00000361066:p.Gln1253fs	True	False		Somatic	1				NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs|NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs	p.QQ1249fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	WXS	Illumina HiSeq	Phase_I	Q9Y6Q9	NCOA3_HUMAN			20	3963_3964	+			1253		Missing.	Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Frame_Shift_Del	DEL	ENST00000371998.3	37	c.3747_3748delGC	CCDS13407.1																																																																																				0.550	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	0	NM_006534		20:46279833
NRIP1	8204	broad.mit.edu	37	21	16338953	16338954	+	Frame_Shift_Ins	INS	-	-	TGAAAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:16338953_16338954insTGAAAAG	ENST00000400202.1	-	3	2272_2273	c.1560_1561insCTTTTCA	c.(1558-1563)cagggafs	p.G521fs	NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.G521fs|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.G521fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	521	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTGTGTACTCCCTGAGGGCTGG	0.401																																						ENST00000400202.1		NA																	0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(1558-1563)cagggafs		nuclear receptor interacting protein 1																																				SO:0001589	frameshift_variant	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16338953_16338954insTGAAAAG	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1560_1561insCTTTTCA	21.37:g.16338953_16338954insTGAAAAG	ENSP00000383063:p.Gly521fs	True	False		Somatic	0				NRIP1_ENST00000318948.4_Frame_Shift_Ins_p.G521fs|NRIP1_ENST00000400199.1_Frame_Shift_Ins_p.G521fs	p.G521fs			WXS	Illumina HiSeq	Phase_I	P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	2272_2273	-			521			Repression domain 2.		Q8IWE8	Frame_Shift_Ins	INS	ENST00000400202.1	37	c.1560_1561insCTTTTCA	CCDS13568.1																																																																																				0.401	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	0	NM_003489		21:16338953
LOC400867	400867	broad.mit.edu	37	21	40250763	40250763	+	lincRNA	DEL	A	A	-	rs5843936|rs201043492	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:40250763delA	ENST00000380931.2	-	0	2274																											GGTGCAATTGAGAGGAAATTG	0.378													A|A|-|deletion	3714	0.741613	0.6846	0.7291	5008	,	,		21836	0.7986		0.6471	False		,,,				2504	0.8661					ENST00000380931.2		NA																	0					NA												2468,1108		863,742,183	79.0	82.0	82.0			0.2	0.0	21	dbSNP_114	132	5033,2807		1634,1765,521	no	intergenic				2497,2507,704	A1A1,A1R,RR		35.8036,30.9843,34.294			40250763	7501,3915	1104	2742	3846			0							g.chr21:40250763delA																													21.37:g.40250763delA		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I					0	2274	-			NA						RNA	DEL	ENST00000380931.2	37																																																																																						0.378	AF064858.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000141410.2	0			21:40250763
YBEY	54059	broad.mit.edu	37	21	47706979	47706980	+	In_Frame_Ins	INS	-	-	AAATGT	rs376742706		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr21:47706979_47706980insAAATGT	ENST00000329319.3	+	2	550_551	c.152_153insAAATGT	c.(151-156)aataga>aaAAATGTtaga	p.51_51N>KNV	MCM3AP_ENST00000397708.1_5'Flank|YBEY_ENST00000397701.4_In_Frame_Ins_p.51_51N>KNV|MCM3AP_ENST00000291688.1_5'Flank|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000339195.6_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000397691.1_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000397694.1_Intron	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	51					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						CAGCACATTAATAGAATCTACA	0.391																																						ENST00000329319.3		NA																	0				endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						c.(151-156)aataga>aaAAATGTtaga		ybeY metallopeptidase (putative)																																				SO:0001652	inframe_insertion	54059						metal ion binding|metalloendopeptidase activity	g.chr21:47706979_47706980insAAATGT	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	Exception_encountered	21.37:g.47706979_47706980insAAATGT	ENSP00000329614:p.Asn51delinsLysAsnVal	False	False		Somatic	0				YBEY_ENST00000397701.4_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397691.1_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000339195.6_In_Frame_Ins_p.51_51N>KNV|YBEY_ENST00000397692.1_Intron	p.51_51N>KNV	NM_058181.1	NP_478061.1	WXS	Illumina HiSeq	Phase_I	P58557	YBEY_HUMAN			2	550_551	+			51					B7WPA9|B7WPF7|D3DSN2	In_Frame_Ins	INS	ENST00000329319.3	37	c.152_153insAAATGT	CCDS33591.1																																																																																				0.391	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	0	NM_058181		21:47706979
ZNF678	339500	broad.mit.edu	37	1	227842194	227842195	+	In_Frame_Ins	INS	-	-	ATAAAAATAAAAAGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:227842194_227842195insATAAAAATAAAAAGT	ENST00000343776.5	+	4	588_589	c.243_244insATAAAAATAAAAAGT	c.(244-246)tat>ATAAAAATAAAAAGTtat	p.81_82insIKIKS	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKS	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	81					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GGCAGAAAGAATATTGCAATAG	0.386																																						ENST00000343776.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(244-246)tat>ATAAAAATAAAAAGTtat		zinc finger protein 678																																				SO:0001652	inframe_insertion	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227842194_227842195insATAAAAATAAAAAGT	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	Exception_encountered	1.37:g.227842194_227842195insATAAAAATAAAAAGT	ENSP00000344828:p.Glu81_Tyr82insIleLysIleLysSer	True	False		Somatic	0				ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_In_Frame_Ins_p.136_137insIKIKS	p.81_82insIKIKS			WXS	Illumina HiSeq	Phase_I	F5GXA7	F5GXA7_HUMAN			4	588_589	+		Prostate(94;0.0885)	136					Q8IVQ9	In_Frame_Ins	INS	ENST00000343776.5	37	c.243_244insATAAAAATAAAAAGT																																																																																					0.386	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	0	NM_178549		1:227842194
EFCAB6	64800	broad.mit.edu	37	22	44112751	44112752	+	In_Frame_Ins	INS	-	-	AACAGCAATACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr22:44112751_44112752insAACAGCAATACA	ENST00000262726.7	-	9	1111_1112	c.858_859insTGTATTGCTGTT	c.(856-861)gaaatt>gaaTGTATTGCTGTTatt	p.286_287EI>ECIAVI	EFCAB6_ENST00000396231.2_In_Frame_Ins_p.134_135EI>ECIAVI|EFCAB6_ENST00000356087.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000358439.4_In_Frame_Ins_p.180_181EI>ECIAVI	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTCCTCTCAATTTCATCCAAGG	0.371																																						ENST00000262726.7		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(856-861)gaaatt>gaaTGTATTGCTGTTatt		EF-hand calcium binding domain 6																																				SO:0001652	inframe_insertion	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44112751_44112752insAACAGCAATACA	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.858_859insTGTATTGCTGTT	22.37:g.44112751_44112752insAACAGCAATACA	ENSP00000262726:p.Glu286_Ile287insCysIleAlaVal	True	False		Somatic	0				EFCAB6_ENST00000358439.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000356087.4_In_Frame_Ins_p.180_181EI>ECIAVI|EFCAB6_ENST00000396231.2_In_Frame_Ins_p.134_135EI>ECIAVI	p.286_287EI>ECIAVI	NM_022785.3	NP_073622.2	WXS	Illumina HiSeq	Phase_I	Q5THR3	EFCB6_HUMAN			9	1111_1112	-		Ovarian(80;0.0247)|all_neural(38;0.025)	286					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	In_Frame_Ins	INS	ENST00000262726.7	37	c.858_859insTGTATTGCTGTT	CCDS14049.1																																																																																				0.371	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	0	NM_022785		22:44112751
PPEF1	5475	broad.mit.edu	37	X	18842176	18842177	+	In_Frame_Ins	INS	-	-	AGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:18842176_18842177insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	ENST00000361511.4	+	17	2131_2132	c.1637_1638insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	c.(1636-1641)aatatc>aaAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGTtatc	p.546_546N>KVFLTTTITKPK*FV	PPEF1_ENST00000359763.6_In_Frame_Ins_p.493_493N>KVFLTTTITKPK*FV|PPEF1_ENST00000544635.1_In_Frame_Ins_p.481_481N>KVFLTTTITKPK*FV|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000349874.5_In_Frame_Ins_p.484_484N>KVFLTTTITKPK*FV	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	546					detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGCTTCCAGAATATCCGCATTG	0.431																																						ENST00000361511.4		NA																	0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1636-1641)aatatc>aaAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGTtatc		protein phosphatase, EF-hand calcium binding domain 1																																				SO:0001652	inframe_insertion	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18842176_18842177insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	Exception_encountered	X.37:g.18842176_18842177insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	ENSP00000354871:p.Asn546delinsLysValPheLeuThrThrThrIleThrLysProLys*PheVal	False	False		Somatic	0				PPEF1_ENST00000544635.1_In_Frame_Ins_p.481_481N>KVFLTTTITKPK*FV|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_In_Frame_Ins_p.493_493N>KVFLTTTITKPK*FV|PPEF1_ENST00000349874.5_In_Frame_Ins_p.484_484N>KVFLTTTITKPK*FV	p.546_546N>KVFLTTTITKPK*FV	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	WXS	Illumina HiSeq	Phase_I	O14829	PPE1_HUMAN			17	2131_2132	+	Hepatocellular(33;0.183)		546					A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	In_Frame_Ins	INS	ENST00000361511.4	37	c.1637_1638insAGTTTTCCTAACAACAACAATAACAAAGCCCAAATGATTTGT	CCDS14188.1																																																																																				0.431	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	0	NM_006240		X:18842176
USP9X	8239	broad.mit.edu	37	X	41089009	41089010	+	Frame_Shift_Ins	INS	-	-	AAAATAAAAC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:41089009_41089010insAAAATAAAAC	ENST00000324545.8	+	43	8041_8042	c.7408_7409insAAAATAAAAC	c.(7408-7410)gctfs	p.A2470fs	USP9X_ENST00000378308.2_Frame_Shift_Ins_p.A2470fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2470					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTGCAAAAGCTTGTGAACTC	0.411																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7		NA																	0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(7408-7410)gctfs		ubiquitin specific peptidase 9, X-linked																																				SO:0001589	frameshift_variant	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41089009_41089010insAAAATAAAAC	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	Exception_encountered	X.37:g.41089009_41089010insAAAATAAAAC	ENSP00000316357:p.Ala2470fs	False	False		Somatic	0				USP9X_ENST00000378308.2_Frame_Shift_Ins_p.A2470fs	p.A2470fs	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	WXS	Illumina HiSeq	Phase_I	Q93008	USP9X_HUMAN			43	8041_8042	+			2470					O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	ENST00000324545.8	37	c.7408_7409insAAAATAAAAC	CCDS43930.1																																																																																				0.411	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	0	NM_004652		X:41089009
DDX3X	1654	broad.mit.edu	37	X	41206636	41206637	+	In_Frame_Ins	INS	-	-	CCATATTTTCCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:41206636_41206637insCCATATTTTCCC	ENST00000399959.2	+	16	2696_2697	c.1841_1842insCCATATTTTCCC	c.(1840-1845)agcagc>agCCATATTTTCCCcagc	p.614_615SS>SHIFPS	DDX3X_ENST00000457138.2_In_Frame_Ins_p.598_599SS>SHIFPS|DDX3X_ENST00000478993.1_3'UTR|RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	614	Gly/Ser-rich.|Interaction with GSK3B.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						tccagcttcagcagcagccgcg	0.51										HNSCC(61;0.18)																												ENST00000399959.2		NA																	0				NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						c.(1840-1845)agcagc>agCCATATTTTCCCcagc		DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked																																				SO:0001652	inframe_insertion	1654				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	g.chrX:41206636_41206637insCCATATTTTCCC	U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	Exception_encountered	X.37:g.41206636_41206637insCCATATTTTCCC	ENSP00000382840:p.Ser614_Ser615insHisIlePhePro	True	False	HNSCC(61;0.18)	Somatic	0				DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000457138.2_In_Frame_Ins_p.598_599SS>SHIFPS|DDX3X_ENST00000441189.2_Intron	p.614_615SS>SHIFPS	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	WXS	Illumina HiSeq	Phase_I	O00571	DDX3X_HUMAN			16	2696_2697	+			614			Gly/Ser-rich.		A8K538|B4E3E8|O15536	In_Frame_Ins	INS	ENST00000399959.2	37	c.1841_1842insCCATATTTTCCC	CCDS43931.1																																																																																				0.510	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056253.1	0	NM_024005		X:41206636
EDA	1896	broad.mit.edu	37	X	69253319	69253320	+	In_Frame_Ins	INS	-	-	TATCCCAGT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:69253319_69253320insTATCCCAGT	ENST00000374552.4	+	7	1107_1108	c.865_866insTATCCCAGT	c.(865-867)cgc>cTATCCCAGTgc	p.289_289R>LSQC	EDA_ENST00000374553.2_In_Frame_Ins_p.289_289R>LSQC|EDA_ENST00000524573.1_In_Frame_Ins_p.286_286R>LSQC	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	289			R -> C (in STHAGX1). {ECO:0000269|PubMed:19278982}.|R -> L (in STHAGX1). {ECO:0000269|PubMed:24487376}.		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						GCTACATCCCCGCAGCGGGGAG	0.5											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000374552.4		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						c.(865-867)cgc>cTATCCCAGTgc		ectodysplasin A																																				SO:0001652	inframe_insertion	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:69253319_69253320insTATCCCAGT	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	Exception_encountered	X.37:g.69253319_69253320insTATCCCAGT	ENSP00000363680:p.Arg289delinsLeuSerGlnCys	True	False		Somatic	0	OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1113	EDA_ENST00000524573.1_In_Frame_Ins_p.286_286R>LSQC|EDA_ENST00000374553.2_In_Frame_Ins_p.289_289R>LSQC	p.289_289R>LSQC	NM_001399.4	NP_001390.1	WXS	Illumina HiSeq	Phase_I	Q92838	EDA_HUMAN			7	1107_1108	+			289					A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	In_Frame_Ins	INS	ENST00000374552.4	37	c.865_866insTATCCCAGT	CCDS14394.1																																																																																				0.500	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057048.2	0	NM_001399		X:69253319
NAP1L2	4674	broad.mit.edu	37	X	72433902	72433903	+	Frame_Shift_Ins	INS	-	-	GAATATGTGGATGAGGACGATGG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:72433902_72433903insGAATATGTGGATGAGGACGATGG	ENST00000373517.3	-	1	781_782	c.426_427insCCATCGTCCTCATCCACATATTC	c.(424-429)gaaatgfs	p.M143fs	NAP1L2_ENST00000536638.1_Start_Codon_Ins	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	143					nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GGTTGGTACATTTCAGCAAACT	0.386																																						ENST00000373517.3		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(424-429)gaaatgfs		nucleosome assembly protein 1-like 2																																				SO:0001589	frameshift_variant	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433902_72433903insGAATATGTGGATGAGGACGATGG	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.426_427insCCATCGTCCTCATCCACATATTC	X.37:g.72433902_72433903insGAATATGTGGATGAGGACGATGG	ENSP00000362616:p.Met143fs	True	False		Somatic	0				NAP1L2_ENST00000536638.1_Start_Codon_Ins	p.M143fs	NM_021963.3	NP_068798.1	WXS	Illumina HiSeq	Phase_I	Q9ULW6	NP1L2_HUMAN			1	781_782	-	Renal(35;0.156)		143					B2RE61|B4E161|Q8TAN6	Frame_Shift_Ins	INS	ENST00000373517.3	37	c.426_427insCCATCGTCCTCATCCACATATTC	CCDS14423.1																																																																																				0.386	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	0	NM_021963		X:72433902
XIST	7503	broad.mit.edu	37	X	73068761	73068762	+	lincRNA	INS	-	-	TAAACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:73068761_73068762insTAAACA	ENST00000429829.1	-	0	3826_3827					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGGTCTTCTCTGTTACGCAGAA	0.386																																						ENST00000429829.1		NA																	0					NA																																														0							g.chrX:73068761_73068762insTAAACA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068761_73068762insTAAACA		False	False		Somatic	0						NR_001564.2		WXS	Illumina HiSeq	Phase_I					0	3826_3827	-			NA						RNA	INS	ENST00000429829.1	37																																																																																						0.386	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	0	NR_001564		X:73068761
XIST	7503	broad.mit.edu	37	X	73068763	73068764	+	lincRNA	INS	-	-	TGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:73068763_73068764insTGA	ENST00000429829.1	-	0	3824_3825					NR_001564.2				X inactive specific transcript (non-protein coding)																		GTCTTCTCTGTTACGCAGAACC	0.391																																						ENST00000429829.1		NA																	0					NA																																														0							g.chrX:73068763_73068764insTGA	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73068763_73068764insTGA		False	False		Somatic	0						NR_001564.2		WXS	Illumina HiSeq	Phase_I					0	3824_3825	-			NA						RNA	INS	ENST00000429829.1	37																																																																																						0.391	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	0	NR_001564		X:73068763
ABCD1	215	broad.mit.edu	37	X	153001873	153001887	+	In_Frame_Del	DEL	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	-	-	CTTCAAGAGGCCCAG	CTTCAAGAGGCCCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:153001873_153001887delCTTCAAGAGGCCCAG	ENST00000218104.3	+	4	1698_1712	c.1299_1313delCTTCAAGAGGCCCAG	c.(1297-1314)cacttcaagaggcccagg>cag	p.433_438HFKRPR>Q	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	433					alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCGCTGTCACTTCAAGAGGCCCAGGGAGCTAGAG	0.628																																						ENST00000218104.3		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18						c.(1297-1314)cacttcaagaggcccagg>cag		ATP-binding cassette, sub-family D (ALD), member 1																																				SO:0001651	inframe_deletion	215				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	g.chrX:153001873_153001887delCTTCAAGAGGCCCAG	Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1299_1313delCTTCAAGAGGCCCAG	X.37:g.153001873_153001887delCTTCAAGAGGCCCAG	ENSP00000218104:p.His433_Arg438delinsGln	False	False		Somatic	1				U52111.14_ENST00000434284.1_RNA	p.433_438HFKRPR>Q	NM_000033.3	NP_000024.2	WXS	Illumina HiSeq	Phase_I	P33897	ABCD1_HUMAN			4	1698_1712	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		433					Q6GTZ2	In_Frame_Del	DEL	ENST00000218104.3	37	c.1299_1313delCTTCAAGAGGCCCAG	CCDS14728.1																																																																																				0.628	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061041.1	0	NM_000033		X:153001873
VPS13D	55187	broad.mit.edu	37	1	12409419	12409420	+	Frame_Shift_Ins	INS	-	-	GGTTAACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:12409419_12409420insGGTTAACA	ENST00000358136.3	+	46	9549_9550	c.9419_9420insGGTTAACA	c.(9418-9423)agccgafs	p.SR3140fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.SR3115fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											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)		ACAGAAAAAAGCCGATTTTTCA	0.386																																						ENST00000358136.3		NA																	0				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.(9418-9423)agccgafs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12409419_12409420insGGTTAACA	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	Exception_encountered	1.37:g.12409419_12409420insGGTTAACA	ENSP00000350854:p.Ser3140fs	False	False		Somatic	0				VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.SR3115fs	p.SR3140fs	NM_015378.2	NP_056193.2	WXS	Illumina HiSeq	Phase_I	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)	46	9549_9550	+	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)	3139						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.9419_9420insGGTTAACA	CCDS30588.1																																																																																				0.386	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	NM_015378		1:12409419
OR2T27	403239	broad.mit.edu	37	1	248813651	248813653	+	In_Frame_Del	DEL	AGA	AGA	-	rs199590470	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:248813651_248813653delAGA	ENST00000344889.3	-	1	532_534	c.533_535delTCT	c.(532-537)ttctgc>tgc	p.F178del		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	178						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCACCTCGCAGAAGAAGTGGTT	0.567														657	0.13119	0.1884	0.0821	5008	,	,		21206	0.249		0.0795	False		,,,				2504	0.0204					ENST00000344889.3		NA																	0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(532-537)ttctgc>tgc		olfactory receptor, family 2, subfamily T, member 27				658,3330		87,484,1423						3.3	1.0			11	805,5661		188,429,2616	no	coding	OR2T27	NM_001001824.1		275,913,4039	A1A1,A1R,RR		12.4497,16.4995,13.9946				1463,8991				SO:0001651	inframe_deletion	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248813651_248813653delAGA		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.533_535delTCT	1.37:g.248813654_248813656delAGA	ENSP00000342008:p.Phe178del	False	False		Somatic	2					p.F178del	NM_001001824.1	NP_001001824.1	WXS	Illumina HiSeq	Phase_I	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	532_534	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	178						In_Frame_Del	DEL	ENST00000344889.3	37	c.533_535delTCT	CCDS31124.1																																																																																				0.567	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	0	NM_001001824		1:248813651
IL9R	3581	broad.mit.edu	37	X	155231143	155231143	+	Intron	DEL	T	T	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:155231143delT	ENST00000244174.5	+	2	207				IL9R_ENST00000369423.2_Frame_Shift_Del_p.F39fs|IL9R_ENST00000424344.3_5'UTR|IL9R_ENST00000540897.1_Frame_Shift_Del_p.F29fs	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGCTGGTGGTTCCAGGCTGC	0.547													tt|TT|T|deletion	258	0.0515176	0.1846	0.0202	5008	,	,		20642	0.0		0.0	False		,,,				2504	0.0					ENST00000369423.2		NA																	0				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23						c.(115-117)ttcfs		interleukin 9 receptor				636,3346		73,490,1428	241.0	277.0	265.0			1.2	0.0	X		279	1,8041		0,1,4020	no	intron	IL9R	NM_002186.2		73,491,5448	A1A1,A1R,RR		0.0124,15.9719,5.2977			155231143	637,11387	2052	4203	6255	SO:0001627	intron_variant	3581				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	g.chrX:155231143delT	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.29-1428T>-	X.37:g.155231143delT		False	False		Somatic	2				IL9R_ENST00000244174.5_Intron|IL9R_ENST00000540897.1_Frame_Shift_Del_p.F29fs|IL9R_ENST00000424344.3_5'UTR	p.F39fs			WXS	Illumina HiSeq	Phase_I	Q01113	IL9R_HUMAN			2	153	+	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)		0					B9ZVT0|Q14634|Q8WWU1|Q96TF0	Frame_Shift_Del	DEL	ENST00000244174.5	37	c.115delT	CCDS14771.4																																																																																				0.547	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058981.1	0	NM_002186		X:155231143
HEATR5B	54497	broad.mit.edu	37	2	37229645	37229646	+	Frame_Shift_Ins	INS	-	-	TCCCTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:37229645_37229646insTCCCTTT	ENST00000233099.5	-	32	5215_5216	c.5120_5121insAAAGGGA	c.(5119-5121)cctfs	p.-1707fs	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B							extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAGATTTTCCAGGAATGAGACC	0.436																																						ENST00000233099.5		NA																	0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5119-5121)cctfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37229645_37229646insTCCCTTT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5120_5121insAAAGGGA	2.37:g.37229645_37229646insTCCCTTT	ENSP00000233099:p.Pro1707fs	False	False		Somatic	0				HEATR5B_ENST00000354531.2_Intron	p.-1707fs	NM_019024.1	NP_061897.1	WXS	Illumina HiSeq	Phase_I	Q9P2D3	HTR5B_HUMAN			32	5215_5216	-		all_hematologic(82;0.21)	NA					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.5120_5121insAAAGGGA	CCDS33181.1																																																																																				0.436	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	0	NM_019024		2:37229645
USP34	9736	broad.mit.edu	37	2	61416172	61416173	+	Frame_Shift_Ins	INS	-	-	GTTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:61416172_61416173insGTTC	ENST00000398571.2	-	79	9981_9982	c.9905_9906insGAAC	c.(9904-9906)gtafs	p.-3302fs	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34						positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGGGAGTGTGTACTGACAGGAG	0.431																																						ENST00000398571.2		NA																	0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9904-9906)gtafs		ubiquitin specific peptidase 34																																				SO:0001589	frameshift_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61416172_61416173insGTTC	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9905_9906insGAAC	2.37:g.61416172_61416173insGTTC	ENSP00000381577:p.Val3302fs	True	False		Somatic	0					p.-3302fs	NM_014709.3	NP_055524.3	WXS	Illumina HiSeq	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		79	9981_9982	-			NA					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Ins	INS	ENST00000398571.2	37	c.9905_9906insGAAC	CCDS42686.1																																																																																				0.431	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	0			2:61416172
USP34	9736	broad.mit.edu	37	2	61416173	61416174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:61416173_61416174insG	ENST00000398571.2	-	79	9980_9981	c.9904_9905insC	c.(9904-9906)gtafs	p.V3302fs	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3302					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGGAGTGTGTACTGACAGGAGC	0.426																																						ENST00000398571.2		NA																	0				autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(9904-9906)gtafs		ubiquitin specific peptidase 34																																				SO:0001589	frameshift_variant	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61416173_61416174insG	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9904_9905insC	2.37:g.61416173_61416174insG	ENSP00000381577:p.Val3302fs	False	False		Somatic	0					p.V3302fs	NM_014709.3	NP_055524.3	WXS	Illumina HiSeq	Phase_I	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		79	9980_9981	-			3302					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Frame_Shift_Ins	INS	ENST00000398571.2	37	c.9904_9905insC	CCDS42686.1																																																																																				0.426	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4	0			2:61416173
C2orf27A	29798	broad.mit.edu	37	2	132480101	132480102	+	De_novo_Start_InFrame	INS	-	-	GAAACAATAGTGTTAACATGGGAGGTTACCGATAACAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:132480101_132480102insGAAACAATAGTGTTAACATGGGAGGTTACCGATAACAG	ENST00000355171.4	+	0	154_155					NM_013310.3	NP_037442.3	Q580R0	CB027_HUMAN	chromosome 2 open reading frame 27A											kidney(1)	1						TCAAGCAGAAATAGGGAGCATG	0.386																																						ENST00000355171.4		NA																	0				kidney(1)	1								chromosome 2 open reading frame 27A																																						29798							g.chr2:132480101_132480102insGAAACAATAGTGTTAACATGGGAGGTTACCGATAACAG	AF038169	CCDS2168.1	2q21.2	2010-05-11	2009-04-02	2009-04-02	ENSG00000197927	ENSG00000197927			25077	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 27"""	C2orf27		9110174, 8619474	Standard	NM_013310		Approved		uc002ttf.1	Q580R0	OTTHUMG00000131666		2.37:g.132480101_132480102insGAAACAATAGTGTTAACATGGGAGGTTACCGATAACAG		True	False		Somatic	0						NM_013310.3	NP_037442.3	WXS	Illumina HiSeq	Phase_I	Q580R0	CB027_HUMAN			0	154_155	+			NA					O43575|Q2M1X0|Q52M10|Q86XG2	Translation_Start_Site	INS	ENST00000355171.4	37		CCDS2168.1																																																																																				0.386	C2orf27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254569.4	0	NM_013310		2:132480101
CPS1	1373	broad.mit.edu	37	2	211421452	211421453	+	5'UTR	INS	-	-	TCT	rs61509952|rs3835047|rs34778124|rs201874641	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:211421452_211421453insTCT	ENST00000233072.5	+	0	191_192				CPS1_ENST00000430249.2_In_Frame_Ins_p.5_6insF	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						anion homeostasis (GO:0055081)|carbamoyl phosphate biosynthetic process (GO:0070409)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to glucagon stimulus (GO:0071377)|cellular response to oleic acid (GO:0071400)|citrulline biosynthetic process (GO:0019240)|glutamine catabolic process (GO:0006543)|glycogen catabolic process (GO:0005980)|hepatocyte differentiation (GO:0070365)|homocysteine metabolic process (GO:0050667)|midgut development (GO:0007494)|nitric oxide metabolic process (GO:0046209)|positive regulation of vasodilation (GO:0045909)|response to amine (GO:0014075)|response to amino acid (GO:0043200)|response to dexamethasone (GO:0071548)|response to drug (GO:0042493)|response to food (GO:0032094)|response to growth hormone (GO:0060416)|response to lipopolysaccharide (GO:0032496)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|carbamoyl-phosphate synthase (ammonia) activity (GO:0004087)|endopeptidase activity (GO:0004175)|glutamate binding (GO:0016595)|modified amino acid binding (GO:0072341)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	Carglumic Acid(DB06775)	GCCACAAATCATCAAAATGACG	0.347														2389	0.477037	0.5968	0.5086	5008	,	,		19934	0.3492		0.4175	False		,,,				2504	0.4857					ENST00000430249.2		NA																	0				breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142						c.(13-15)atc>aTCTtc		carbamoyl-phosphate synthase 1, mitochondrial			,	2464,1802		707,1050,376					,	3.0	1.0		dbSNP_107	63	3312,4938		646,2020,1459	no	utr-5,coding	CPS1	NM_001875.4,NM_001122633.2	,	1353,3070,1835	A1A1,A1R,RR		40.1455,42.241,46.1489	,	,		5776,6740				SO:0001623	5_prime_UTR_variant	1373				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	g.chr2:211421452_211421453insTCT	AF154830	CCDS2393.1, CCDS46505.1, CCDS46506.1	2p	2014-09-17	2010-05-11		ENSG00000021826	ENSG00000021826	6.3.4.16		2323	protein-coding gene	gene with protein product		608307	"""carbamoyl-phosphate synthetase 1, mitochondrial"""				Standard	NM_001122633		Approved		uc002vee.4	P31327	OTTHUMG00000132994	ENST00000233072.5:c.-5->TCT	2.37:g.211421452_211421453insTCT		False	False		Somatic	0				CPS1_ENST00000233072.5_5'UTR	p.5_6insF	NM_001122633.2	NP_001116105.1	WXS	Illumina HiSeq	Phase_I	P31327	CPSM_HUMAN		Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)	2	68_69	+			0					B7Z818|J3KQL0|O43774|Q53TL5|Q59HF8|Q7Z5I5	In_Frame_Ins	INS	ENST00000233072.5	37	c.13_14insTCT	CCDS2393.1																																																																																				0.347	CPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256569.5	0			2:211421452
SEPT2	4735	broad.mit.edu	37	2	242283288	242283289	+	In_Frame_Ins	INS	-	-	AACACA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:242283288_242283289insAACACA	ENST00000391973.2	+	9	1346_1347	c.818_819insAACACA	c.(817-822)tttctg>ttAACACAtctg	p.273_273F>LTH	SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTH|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTH|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTH	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	273	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAATGACTTTCTGAAGCTGA	0.49																																						ENST00000391973.2		NA																	0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(817-822)tttctg>ttAACACAtctg		septin 2																																				SO:0001652	inframe_insertion	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242283288_242283289insAACACA	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	Exception_encountered	2.37:g.242283288_242283289insAACACA	ENSP00000375834:p.Phe273delinsLeuThrHis	True	False		Somatic	0				SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTH|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTH|SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTH|SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTH	p.273_273F>LTH	NM_006155.1	NP_006146.1	WXS	Illumina HiSeq	Phase_I	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	9	1346_1347	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	273					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	In_Frame_Ins	INS	ENST00000391973.2	37	c.818_819insAACACA	CCDS2548.1																																																																																				0.490	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	0	NM_006155		2:242283288
GOLGA4	2803	broad.mit.edu	37	3	37367990	37367991	+	In_Frame_Ins	INS	-	-	AATCAAATCTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:37367990_37367991insAATCAAATCTTT	ENST00000361924.2	+	14	4987_4988	c.4613_4614insAATCAAATCTTT	c.(4612-4617)actatt>acAATCAAATCTTTtatt	p.1539_1540insKSFI	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_In_Frame_Ins_p.1561_1562insKSFI	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1539	Glu-rich.				Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACCCAGAAAACTATTGAAATAG	0.312																																						ENST00000361924.2		NA																	0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(4612-4617)actatt>acAATCAAATCTTTtatt		golgin A4																																				SO:0001652	inframe_insertion	2803				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	g.chr3:37367990_37367991insAATCAAATCTTT	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	Exception_encountered	3.37:g.37367990_37367991insAATCAAATCTTT	ENSP00000354486:p.Ile1539_Glu1540insLysSerPheIle	False	False		Somatic	0				GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_In_Frame_Ins_p.1561_1562insKSFI	p.1539_1540insKSFI	NM_002078.4	NP_002069.2	WXS	Illumina HiSeq	Phase_I	Q13439	GOGA4_HUMAN			14	4987_4988	+			1539			Glu-rich.		F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	In_Frame_Ins	INS	ENST00000361924.2	37	c.4613_4614insAATCAAATCTTT	CCDS2666.1																																																																																				0.312	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253339.2	0	NM_002078		3:37367990
IFT57	55081	broad.mit.edu	37	3	107925522	107925523	+	Frame_Shift_Ins	INS	-	-	CTATATATAAAATGTTATAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:107925522_107925523insCTATATATAAAATGTTATAA	ENST00000264538.3	-	5	853_854	c.606_607insTTATAACATTTTATATATAG	c.(604-609)gaagaafs	p.E203fs		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	203					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.E203*(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			ATAAAGTTTTCTTCATTATCTG	0.277																																						ENST00000264538.3		NA																	1	Substitution - Nonsense(1)	p.E203*(1)	large_intestine(1)	kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14						c.(604-609)gaagaafs		intraflagellar transport 57 homolog (Chlamydomonas)																																				SO:0001589	frameshift_variant	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107925522_107925523insCTATATATAAAATGTTATAA	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.606_607insTTATAACATTTTATATATAG	3.37:g.107925522_107925523insCTATATATAAAATGTTATAA	ENSP00000264538:p.Glu203fs	False	False		Somatic	0					p.E203fs	NM_018010.3	NP_060480.1	WXS	Illumina HiSeq	Phase_I	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		5	853_854	-			203					Q96DA9	Frame_Shift_Ins	INS	ENST00000264538.3	37	c.606_607insTTATAACATTTTATATATAG	CCDS2951.1																																																																																				0.277	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	0	NM_018010		3:107925522
MYLK	4638	broad.mit.edu	37	3	123419117	123419119	+	In_Frame_Del	DEL	TTC	TTC	-	rs372794395|rs72491150|rs549428862|rs75967604	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TTC	TTC	-	-	TTC	TTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:123419117_123419119delTTC	ENST00000475616.1	-	15	3195_3197	c.3196_3198delGAA	c.(3196-3198)gaadel	p.E1066del	MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000510775.1_5'Flank|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del|MYLK_ENST00000360772.3_In_Frame_Del_p.E1066del			Q15746	MYLK_HUMAN	myosin light chain kinase	1066	Actin-binding (calcium/calmodulin- insensitive). {ECO:0000250}.				actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)	p.E1066K(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTTTCTTGAGTTCTTCTTTGCTA	0.527														760	0.151757	0.0212	0.0173	5008	,	,		22692	0.498		0.0139	False		,,,				2504	0.2086					ENST00000360772.3		NA																	1	Substitution - Missense(1)	p.E1066K(1)	urinary_tract(1)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(3196-3198)gaadel		myosin light chain kinase			,,,	107,4159		3,101,2029					,,,	3.0	1.0		dbSNP_131	266	124,8130		7,110,4010	no	coding,coding,coding,coding	MYLK	NM_053028.3,NM_053027.3,NM_053026.3,NM_053025.3	,,,	10,211,6039	A1A1,A1R,RR		1.5023,2.5082,1.845	,,,	,,,		231,12289				SO:0001651	inframe_deletion	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123419117_123419119delTTC	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.3196_3198delGAA	3.37:g.123419120_123419122delTTC	ENSP00000418335:p.Glu1066del	False	False		Somatic	2				MYLK_ENST00000475616.1_In_Frame_Del_p.E1066del|MYLK_ENST00000359169.1_In_Frame_Del_p.E1066del|MYLK_ENST00000346322.5_In_Frame_Del_p.E997del|MYLK_ENST00000360304.3_In_Frame_Del_p.E1066del	p.E1066del			WXS	Illumina HiSeq	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	19	3574_3576	-		Lung NSC(201;0.0496)	1066			Actin-binding (calcium/calmodulin- insensitive) (By similarity).		B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	In_Frame_Del	DEL	ENST00000475616.1	37	c.3196_3198delGAA	CCDS46896.1																																																																																				0.527	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	0	NM_053025		3:123419117
COL6A6	131873	broad.mit.edu	37	3	130300843	130300844	+	Frame_Shift_Ins	INS	-	-	AACTGTTATATCCTTCAGGC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130300843_130300844insAACTGTTATATCCTTCAGGC	ENST00000358511.6	+	9	3932_3933	c.3901_3902insAACTGTTATATCCTTCAGGC	c.(3901-3903)ttafs	p.L1301fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.L1301fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1301	Nonhelical region.|VWFA 7. {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						GGTGGTCCTTTTATTTTCAGAT	0.337																																						ENST00000358511.6		NA																	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.(3901-3903)ttafs		collagen, type VI, alpha 6																																				SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130300843_130300844insAACTGTTATATCCTTCAGGC	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	Exception_encountered	3.37:g.130300843_130300844insAACTGTTATATCCTTCAGGC	ENSP00000351310:p.Leu1301fs	True	False		Somatic	0				COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.L1301fs	p.L1301fs	NM_001102608.1	NP_001096078.1	WXS	Illumina HiSeq	Phase_I	A6NMZ7	CO6A6_HUMAN			9	3932_3933	+			1301			Nonhelical region.|VWFA 7.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Ins	INS	ENST00000358511.6	37	c.3901_3902insAACTGTTATATCCTTCAGGC	CCDS46911.1																																																																																				0.337	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	0	NM_001102608		3:130300843
ATP2C1	27032	broad.mit.edu	37	3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130672697_130672698insTATCAAA	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAA	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1		NA																	0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(565-567)acafs		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130672697_130672698insTATCAAA	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	Exception_encountered	3.37:g.130672697_130672698insTATCAAA	ENSP00000427461:p.Thr189fs	False	False		Somatic	0				ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs	p.T189fs			WXS	Illumina HiSeq	Phase_I	P98194	AT2C1_HUMAN			9	1114_1115	+			189					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Ins	INS	ENST00000510168.1	37	c.564_565insTATCAAA	CCDS46914.1																																																																																				0.431	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	NM_001001486		3:130672697
DNAJC13	23317	broad.mit.edu	37	3	132242460	132242461	+	Frame_Shift_Ins	INS	-	-	GAAGCTAGAAATGCACACCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:132242460_132242461insGAAGCTAGAAATGCACACCA	ENST00000260818.6	+	51	6211_6212	c.5963_5964insGAAGCTAGAAATGCACACCA	c.(5962-5967)tttattfs	p.F1988fs		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1988					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTGAGGATCTTTATTGCACAAC	0.411																																						ENST00000260818.6		NA																	0				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						c.(5962-5967)tttattfs		DnaJ (Hsp40) homolog, subfamily C, member 13																																				SO:0001589	frameshift_variant	23317						heat shock protein binding	g.chr3:132242460_132242461insGAAGCTAGAAATGCACACCA	AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	Exception_encountered	3.37:g.132242460_132242461insGAAGCTAGAAATGCACACCA	ENSP00000260818:p.Phe1988fs	True	False		Somatic	0					p.F1988fs	NM_015268.3	NP_056083.3	WXS	Illumina HiSeq	Phase_I	O75165	DJC13_HUMAN			51	6211_6212	+			1988					Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Frame_Shift_Ins	INS	ENST00000260818.6	37	c.5963_5964insGAAGCTAGAAATGCACACCA	CCDS33857.1																																																																																				0.411	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356807.2	0	NM_015268		3:132242460
ZBBX	79740	broad.mit.edu	37	3	167000284	167000285	+	Splice_Site	INS	-	-	AGAATGAGCTTTCCT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:167000284_167000285insAGAATGAGCTTTCCT	ENST00000392766.2	-	19	2220		c.e19-1		ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GATTTCTGACCTAAAATTAAAA	0.342																																						ENST00000392766.2		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						c.e19-1		zinc finger, B-box domain containing																																				SO:0001630	splice_region_variant	79740					intracellular	zinc ion binding	g.chr3:167000284_167000285insAGAATGAGCTTTCCT	AK026702	CCDS3199.2, CCDS56295.1, CCDS56296.1	3q26.1	2010-03-23			ENSG00000169064	ENSG00000169064			26245	protein-coding gene	gene with protein product						12477932	Standard	NM_024687		Approved	FLJ23049	uc011bpc.2	A8MT70	OTTHUMG00000133560	ENST00000392766.2:c.1880-1->AGGAAAGCTCATTCT	3.37:g.167000284_167000285insAGAATGAGCTTTCCT		True	False		Somatic	0				ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000455345.2_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site		NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	WXS	Illumina HiSeq	Phase_I	A8MT70	ZBBX_HUMAN			19	2220	-			NA					A8MV69|B3KSC1|B5MDJ6|F2Z370|Q9H5T8	Splice_Site	INS	ENST00000392766.2	37		CCDS3199.2																																																																																				0.342	ZBBX-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257657.3	0	NM_024687	Intron	3:167000284
VPS8	23355	broad.mit.edu	37	3	184542503	184542504	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENST00000437079.3	+	2	254_255	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	c.(82-87)aatctafs	p.NL28fs	VPS8_ENST00000436792.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	28							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGTCTTTCAATCTAGAAGCTT	0.351																																						ENST00000436792.2		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(82-87)aatctafs		vacuolar protein sorting 8 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	23355						zinc ion binding	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	Exception_encountered	3.37:g.184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENSP00000397879:p.Asn28fs	False	False		Somatic	0				VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000437079.3_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs	p.NL28fs			WXS	Illumina HiSeq	Phase_I	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		2	226_227	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		28					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Frame_Shift_Ins	INS	ENST00000437079.3	37	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	CCDS46971.1																																																																																				0.351	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_015303		3:184542503
ATP10D	57205	broad.mit.edu	37	4	47574988	47574989	+	Frame_Shift_Ins	INS	-	-	ATGAAAATCAGTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:47574988_47574989insATGAAAATCAGTT	ENST00000273859.3	+	18	3609_3610	c.3340_3341insATGAAAATCAGTT	c.(3340-3342)attfs	p.I1114fs		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1114					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCCAACATGATTCTCTATTTT	0.446																																						ENST00000273859.3		NA																	0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(3340-3342)attfs		ATPase, class V, type 10D																																				SO:0001589	frameshift_variant	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47574988_47574989insATGAAAATCAGTT	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	Exception_encountered	4.37:g.47574988_47574989insATGAAAATCAGTT	ENSP00000273859:p.Ile1114fs	False	False		Somatic	0					p.I1114fs	NM_020453.3	NP_065186.3	WXS	Illumina HiSeq	Phase_I	Q9P241	AT10D_HUMAN			18	3609_3610	+			1114					A2RRC8|D6REN2|Q8NC70|Q96SR3	Frame_Shift_Ins	INS	ENST00000273859.3	37	c.3340_3341insATGAAAATCAGTT	CCDS3476.1																																																																																				0.446	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	0	NM_020453		4:47574988
SLC4A4	8671	broad.mit.edu	37	4	72338763	72338764	+	Intron	INS	-	-	TTG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:72338763_72338764insTTG	ENST00000264485.5	+	14	2020				SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000512686.1_In_Frame_Ins_p.616_617ST>S*T|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	TGCAAATTTTCAACATGCTGTC	0.431																																						ENST00000512686.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1846-1851)tcaaca>tcTTGaaca		solute carrier family 4 (sodium bicarbonate cotransporter), member 4																																				SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338763_72338764insTTG	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+76->TTG	4.37:g.72338763_72338764insTTG		False	False		Somatic	0				SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000351898.6_Intron	p.616_617ST>S*T			WXS	Illumina HiSeq	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	2043_2044	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	In_Frame_Ins	INS	ENST00000264485.5	37	c.1847_1848insTTG	CCDS43236.1																																																																																				0.431	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	NM_003759		4:72338763
SLC4A4	8671	broad.mit.edu	37	4	72338765	72338766	+	Intron	INS	-	-	AG	rs551809701		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:72338765_72338766insAG	ENST00000264485.5	+	14	2020				SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000512686.1_Frame_Shift_Ins_p.T617fs|SLC4A4_ENST00000351898.6_Intron	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CAAATTTTCAACATGCTGTCAT	0.426																																						ENST00000512686.1		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(1849-1851)acafs		solute carrier family 4 (sodium bicarbonate cotransporter), member 4																																				SO:0001627	intron_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338765_72338766insAG	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+78->AG	4.37:g.72338765_72338766insAG		False	False		Somatic	0				SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000351898.6_Intron	p.T617fs			WXS	Illumina HiSeq	Phase_I	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		11	2045_2046	+			0					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Frame_Shift_Ins	INS	ENST00000264485.5	37	c.1849_1850insAG	CCDS43236.1																																																																																				0.426	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	0	NM_003759		4:72338765
TBCK	93627	broad.mit.edu	37	4	107114909	107114910	+	Frame_Shift_Ins	INS	-	-	GACTATGAAATAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:107114909_107114910insGACTATGAAATAA	ENST00000273980.5	-	23	2362_2363	c.1915_1916insTTATTTCATAGTC	c.(1915-1917)aaafs	p.K639fs	TBCK_ENST00000394706.3_Frame_Shift_Ins_p.K600fs|TBCK_ENST00000432496.2_Frame_Shift_Ins_p.K639fs|TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000361687.4_Frame_Shift_Ins_p.K576fs|TBCK_ENST00000394708.2_Frame_Shift_Ins_p.K639fs					TBC1 domain containing kinase											NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						GTGGAAAATTTTGTGTAGTGGA	0.337																																						ENST00000273980.4		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1915-1917)aaafs		TBC1 domain containing kinase																																				SO:0001589	frameshift_variant	93627					intracellular	Rab GTPase activator activity	g.chr4:107114909_107114910insGACTATGAAATAA		CCDS3673.1, CCDS54788.1, CCDS54789.1	4q24	2014-09-17			ENSG00000145348	ENSG00000145348			28261	protein-coding gene	gene with protein product						12471243	Standard	XR_427553		Approved	MGC16169, HSPC302	uc010ilv.2	Q8TEA7	OTTHUMG00000131214	ENST00000273980.5:c.1915_1916insTTATTTCATAGTC	4.37:g.107114909_107114910insGACTATGAAATAA	ENSP00000273980:p.Lys639fs	True	False		Somatic	0				TBCK_ENST00000514689.1_5'UTR|TBCK_ENST00000361687.4_Frame_Shift_Ins_p.K576fs|TBCK_ENST00000394708.2_Frame_Shift_Ins_p.K639fs|TBCK_ENST00000394706.3_Frame_Shift_Ins_p.K600fs|TBCK_ENST00000432496.2_Frame_Shift_Ins_p.K639fs	p.K639fs			WXS	Illumina HiSeq	Phase_I	Q8TEA7	TBCK_HUMAN			23	2362_2363	-			639			Rab-GAP TBC.			Frame_Shift_Ins	INS	ENST00000273980.5	37	c.1915_1916insTTATTTCATAGTC	CCDS54788.1																																																																																				0.337	TBCK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253953.4	0	NM_033115		4:107114909
C5orf42	65250	broad.mit.edu	37	5	37169171	37169172	+	Frame_Shift_Ins	INS	-	-	CAGAAGAAAGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:37169171_37169172insCAGAAGAAAGA	ENST00000508244.1	-	33	7047_7048	c.6954_6955insTCTTTCTTCTG	c.(6952-6957)gatcaafs	p.Q2319fs	C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.Q1199fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.Q2319fs			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2319						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCAACATATTGATCCAAGTTCA	0.371																																						ENST00000508244.1		NA																	0				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79						c.(6952-6957)gatcaafs		chromosome 5 open reading frame 42																																				SO:0001589	frameshift_variant	65250							g.chr5:37169171_37169172insCAGAAGAAAGA		CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.6954_6955insTCTTTCTTCTG	5.37:g.37169171_37169172insCAGAAGAAAGA	ENSP00000421690:p.Gln2319fs	False	False		Somatic	0				C5orf42_ENST00000274258.7_Frame_Shift_Ins_p.Q1199fs|C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.Q2319fs	p.Q2319fs			WXS	Illumina HiSeq	Phase_I	E9PH94	E9PH94_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)		33	7047_7048	-	all_lung(31;0.000616)		2319					A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Frame_Shift_Ins	INS	ENST00000508244.1	37	c.6954_6955insTCTTTCTTCTG	CCDS34146.2																																																																																				0.371	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	0	NM_023073		5:37169171
SLC38A9	153129	broad.mit.edu	37	5	54929718	54929719	+	Frame_Shift_Ins	INS	-	-	TAAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:54929718_54929719insTAAA	ENST00000396865.2	-	14	1884_1885	c.1293_1294insTTTA	c.(1291-1296)gacaacfs	p.N432fs	SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000512595.1_Frame_Shift_Ins_p.N369fs	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	432					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				CTAGGGAAGTTGTCTAAAAAAT	0.386																																						ENST00000512595.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1102-1107)gacaacfs		solute carrier family 38, member 9																																				SO:0001589	frameshift_variant	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929718_54929719insTAAA		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1293_1294insTTTA	5.37:g.54929718_54929719insTAAA	ENSP00000380074:p.Asn432fs	False	False		Somatic	0				SLC38A9_ENST00000515629.1_Frame_Shift_Ins_p.N369fs|SLC38A9_ENST00000416547.2_Frame_Shift_Ins_p.N308fs|SLC38A9_ENST00000396865.2_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000318672.3_Frame_Shift_Ins_p.N432fs|SLC38A9_ENST00000539768.1_3'UTR	p.N369fs	NM_001258287.1	NP_001245216.1	WXS	Illumina HiSeq	Phase_I	Q8NBW4	S38A9_HUMAN			12	1279_1280	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	432					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	Frame_Shift_Ins	INS	ENST00000396865.2	37	c.1104_1105insTTTA	CCDS3968.1																																																																																				0.386	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	0	NM_173514		5:54929718
SLC38A9	153129	broad.mit.edu	37	5	54929719	54929720	+	In_Frame_Ins	INS	-	-	TGTGACTGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:54929719_54929720insTGTGACTGA	ENST00000396865.2	-	14	1883_1884	c.1292_1293insTCAGTCACA	c.(1291-1293)gac>gaTCAGTCACAc	p.431_432insQSH	SLC38A9_ENST00000318672.3_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000416547.2_In_Frame_Ins_p.307_308insQSH|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000515629.1_In_Frame_Ins_p.368_369insQSH|SLC38A9_ENST00000512595.1_In_Frame_Ins_p.368_369insQSH	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	431					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				TAGGGAAGTTGTCTAAAAAATT	0.391																																						ENST00000512595.1		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(1102-1104)gac>gaTCAGTCACAc		solute carrier family 38, member 9																																				SO:0001652	inframe_insertion	153129				amino acid transport|sodium ion transport	integral to membrane		g.chr5:54929719_54929720insTGTGACTGA		CCDS3968.1, CCDS58947.1, CCDS58948.1, CCDS75243.1	5q11.2	2013-05-22			ENSG00000177058	ENSG00000177058		"""Solute carriers"""	26907	protein-coding gene	gene with protein product							Standard	NM_173514		Approved	FLJ90709	uc003jqf.3	Q8NBW4	OTTHUMG00000131189	ENST00000396865.2:c.1292_1293insTCAGTCACA	5.37:g.54929719_54929720insTGTGACTGA	ENSP00000380074:p.Asp431_Asn432insGlnSerHis	False	False		Somatic	0				SLC38A9_ENST00000515629.1_In_Frame_Ins_p.368_369insQSH|SLC38A9_ENST00000416547.2_In_Frame_Ins_p.307_308insQSH|SLC38A9_ENST00000396865.2_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000318672.3_In_Frame_Ins_p.431_432insQSH|SLC38A9_ENST00000539768.1_3'UTR	p.368_369insQSH	NM_001258287.1	NP_001245216.1	WXS	Illumina HiSeq	Phase_I	Q8NBW4	S38A9_HUMAN			12	1278_1279	-		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)	431					B3KXV1|B7Z7D0|Q0P5S0|Q6MZJ8	In_Frame_Ins	INS	ENST00000396865.2	37	c.1103_1104insTCAGTCACA	CCDS3968.1																																																																																				0.391	SLC38A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253912.2	0	NM_173514		5:54929719
IL31RA	133396	broad.mit.edu	37	5	55164724	55164725	+	Frame_Shift_Ins	INS	-	-	AAATATTGCCAGCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:55164724_55164725insAAATATTGCCAGCA	ENST00000447346.2	+	3	325_326	c.260_261insAAATATTGCCAGCA	c.(259-264)gttaagfs	p.K88fs	IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000359040.5_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000354961.4_Frame_Shift_Ins_p.K69fs|IL31RA_ENST00000396834.1_Frame_Shift_Ins_p.K69fs|IL31RA_ENST00000396836.2_Frame_Shift_Ins_p.K88fs	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	56	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CAGTACACAGTTAAGAGAACTT	0.431																																						ENST00000396834.1		NA																	0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(202-207)gttaagfs		interleukin 31 receptor A																																				SO:0001589	frameshift_variant	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55164724_55164725insAAATATTGCCAGCA	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	Exception_encountered	5.37:g.55164724_55164725insAAATATTGCCAGCA	ENSP00000415900:p.Lys88fs	False	False		Somatic	0				IL31RA_ENST00000490985.1_5'UTR|IL31RA_ENST00000359040.5_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000297015.3_Intron|IL31RA_ENST00000447346.2_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000396836.2_Frame_Shift_Ins_p.K88fs|IL31RA_ENST00000354961.4_Frame_Shift_Ins_p.K69fs	p.K69fs	NM_001242638.1	NP_001229567.1	WXS	Illumina HiSeq	Phase_I	Q8NI17	IL31R_HUMAN			5	699_700	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	56			Fibronectin type-III 1.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Frame_Shift_Ins	INS	ENST00000447346.2	37	c.203_204insAAATATTGCCAGCA	CCDS3970.2																																																																																				0.431	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	0	NM_139017		5:55164724
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
CMYA5	202333	broad.mit.edu	37	5	79025540	79025541	+	In_Frame_Ins	INS	-	-	ATTTCTTTAATTACATAACCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:79025540_79025541insATTTCTTTAATTACATAACCC	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACATAACCC	c.(952-954)ttc>tATTTCTTTAATTACATAACCCtc	p.318_318F>YFFNYITL		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431																																						ENST00000446378.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(952-954)ttc>tATTTCTTTAATTACATAACCCtc		cardiomyopathy associated 5																																				SO:0001652	inframe_insertion	202333					perinuclear region of cytoplasm		g.chr5:79025540_79025541insATTTCTTTAATTACATAACCC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	Exception_encountered	5.37:g.79025540_79025541insATTTCTTTAATTACATAACCC	ENSP00000394770:p.Phe318delinsTyrPhePheAsnTyrIleThrLeu	False	False		Somatic	0					p.318_318F>YFFNYITL	NM_153610.3	NP_705838.3	WXS	Illumina HiSeq	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	983_984	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	318					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	In_Frame_Ins	INS	ENST00000446378.2	37	c.952_953insATTTCTTTAATTACATAACCC	CCDS47238.1																																																																																				0.431	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79025540
MEF2C	4208	broad.mit.edu	37	5	88047851	88047852	+	Frame_Shift_Ins	INS	-	-	AACCATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:88047851_88047852insAACCATT	ENST00000437473.2	-	5	828_829	c.411_412insAATGGTT	c.(409-414)ccacctfs	p.P138fs	MEF2C_ENST00000508569.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000504921.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514028.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000503554.1_De_novo_Start_InFrame|MEF2C_ENST00000539796.1_Frame_Shift_Ins_p.P90fs|MEF2C_ENST00000424173.2_Frame_Shift_Ins_p.P136fs|MEF2C_ENST00000506554.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000340208.5_Frame_Shift_Ins_p.P156fs|MEF2C_ENST00000510942.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514015.1_Frame_Shift_Ins_p.P138fs	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	138					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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 core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		AAGTTGGGAGGTGGAACAGCCT	0.45										HNSCC(66;0.2)																												ENST00000503554.1		NA																	0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40								myocyte enhancer factor 2C																																				SO:0001589	frameshift_variant	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|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	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88047851_88047852insAACCATT	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.411_412insAATGGTT	5.37:g.88047851_88047852insAACCATT	ENSP00000396219:p.Pro138fs	False	False	HNSCC(66;0.2)	Somatic	0				MEF2C_ENST00000424173.2_Frame_Shift_Ins_p.P136fs|MEF2C_ENST00000510942.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000437473.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000340208.5_Frame_Shift_Ins_p.P156fs|MEF2C_ENST00000508569.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000506554.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514028.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000504921.2_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000514015.1_Frame_Shift_Ins_p.P138fs|MEF2C_ENST00000539796.1_Frame_Shift_Ins_p.P90fs				WXS	Illumina HiSeq	Phase_I	Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	0	356_357	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	NA					C9JMZ0|D7F7N5|F8W7V7	Translation_Start_Site	INS	ENST00000437473.2	37		CCDS47245.1																																																																																				0.450	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	0	NM_002397		5:88047851
GPR98	84059	broad.mit.edu	37	5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14185-14190)gattatfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90086832_90086833insAAACTCAACAAAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.90086832_90086833insAAACTCAACAAAG	ENSP00000384582:p.Asp4729fs	False	False		Somatic	0				GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	p.DY4729fs	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14282_14283	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4729			Calx-beta 32.		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.14186_14187insAAACTCAACAAAG	CCDS47246.1																																																																																				0.441	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:90086832
GPR98	84059	broad.mit.edu	37	5	90149273	90149274	+	Frame_Shift_Ins	INS	-	-	TTTG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:90149273_90149274insTTTG	ENST00000405460.2	+	80	17473_17474	c.17377_17378insTTTG	c.(17377-17379)aaafs	p.K5793fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.K1454fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5793					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGTACATGTAAATTAGTCCAG	0.376																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(17377-17379)aaafs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90149273_90149274insTTTG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.90149273_90149274insTTTG	ENSP00000384582:p.Lys5793fs	True	False		Somatic	0				GPR98_ENST00000425867.2_Frame_Shift_Ins_p.K1454fs	p.K5793fs	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	80	17473_17474	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	5793					O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.17377_17378insTTTG	CCDS47246.1																																																																																				0.376	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:90149273
MAN2A1	4124	broad.mit.edu	37	5	109190936	109190938	+	In_Frame_Del	DEL	CTC	CTC	-	rs200733039|rs3217225|rs200723635	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:109190936_109190938delCTC	ENST00000261483.4	+	20	4124_4126	c.3072_3074delCTC	c.(3070-3075)ttctcc>ttc	p.S1026del	MAN2A1_ENST00000505313.1_3'UTR	NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	1026				Missing (in Ref. 2; BAA10017). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CAAATAAGTTCTCCTCACCTACC	0.404														1342	0.267971	0.0416	0.2507	5008	,	,		15500	0.6062		0.1521	False		,,,				2504	0.3569					ENST00000261483.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(3070-3075)ttctcc>ttc		mannosidase, alpha, class 2A, member 1				490,3774		127,236,1769						-1.0	0.0		dbSNP_130	147	1753,6501		285,1183,2659	no	coding	MAN2A1	NM_002372.2		412,1419,4428	A1A1,A1R,RR		21.2382,11.4916,17.9182				2243,10275				SO:0001651	inframe_deletion	4124				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr5:109190936_109190938delCTC		CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.3072_3074delCTC	5.37:g.109190939_109190941delCTC	ENSP00000261483:p.Ser1026del	False	False		Somatic	2				MAN2A1_ENST00000505313.1_3'UTR	p.S1026del	NM_002372.2	NP_002363.2	WXS	Illumina HiSeq	Phase_I	Q16706	MA2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)	20	4124_4126	+		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)	1026	Missing (in Ref. 2; BAA10017).				Q16767	In_Frame_Del	DEL	ENST00000261483.4	37	c.3072_3074delCTC	CCDS34209.1																																																																																				0.404	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370680.1	0			5:109190936
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
WDR36	134430	broad.mit.edu	37	5	110428230	110428230	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:110428230delG	ENST00000513710.2	+	1	248	c.244delG	c.(244-246)gacfs	p.D82fs	WDR36_ENST00000506538.2_Frame_Shift_Del_p.D82fs|WDR36_ENST00000505303.1_Frame_Shift_Del_p.D26fs|CTC-551A13.2_ENST00000507269.3_RNA			Q8NI36	WDR36_HUMAN	WD repeat domain 36	82					regulation of axon extension (GO:0030516)|response to stimulus (GO:0050896)|retina homeostasis (GO:0001895)|rRNA processing (GO:0006364)|visual perception (GO:0007601)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TTTCAGCAACGACATTCCACA	0.597																																						ENST00000513710.2		NA																	0				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(244-246)gacfs		WD repeat domain 36							38.0	41.0	40.0					5																	110428230		2202	4300	6502	SO:0001589	frameshift_variant	134430				response to stimulus|rRNA processing|visual perception	small-subunit processome		g.chr5:110428230delG	AF385437	CCDS4102.1	5q22.2	2013-01-09			ENSG00000134987	ENSG00000134987		"""WD repeat domain containing"""	30696	protein-coding gene	gene with protein product		609669	"""glaucoma 1, open angle, G"""	GLC1G		15590835, 15677485	Standard	NM_139281		Approved	TA-WDRP, UTP21	uc003kpd.3	Q8NI36	OTTHUMG00000128790	ENST00000513710.2:c.244delG	5.37:g.110428230delG	ENSP00000424628:p.Asp82fs	False	False		Somatic	1				WDR36_ENST00000506538.2_Frame_Shift_Del_p.D82fs|WDR36_ENST00000505303.1_Frame_Shift_Del_p.D26fs	p.D82fs			WXS	Illumina HiSeq	Phase_I	Q8NI36	WDR36_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)	1	248	+		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)	82					A2RUS4|Q68E02|Q8N1Q2	Frame_Shift_Del	DEL	ENST00000513710.2	37	c.244delG	CCDS4102.1																																																																																				0.597	WDR36-008	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000373504.3	0	NM_139281		5:110428230
HMMR	3161	broad.mit.edu	37	5	162902670	162902671	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:162902670_162902671insAA	ENST00000358715.3	+	11	1293_1294	c.1257_1258insAA	c.(1258-1260)ctgfs	p.L420fs	HMMR_ENST00000353866.3_Frame_Shift_Ins_p.L405fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.L334fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.L421fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	420					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TAGAAGAAAAGCTGAAAGGGTT	0.337																																						ENST00000416990.2		NA																	0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(916-918)ctgfs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162902670_162902671insAA	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	Exception_encountered	5.37:g.162902670_162902671insAA	ENSP00000351554:p.Leu420fs	False	False		Somatic	0				HMMR_ENST00000432118.2_Frame_Shift_Ins_p.L334fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.L421fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.L405fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.L420fs	p.L306fs			WXS	Illumina HiSeq	Phase_I	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	11	1412_1413	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	420					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.915_916insAA	CCDS4362.1																																																																																				0.337	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	0	NM_012484		5:162902670
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
TXNDC5	81567	broad.mit.edu	37	6	7886278	7886279	+	Splice_Site	INS	-	-	TCAGAC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:7886278_7886279insTCAGAC	ENST00000379757.4	-	8	1001		c.e8-2		BLOC1S5-TXNDC5_ENST00000439343.2_Splice_Site|TXNDC5_ENST00000473453.1_Splice_Site|TXNDC5_ENST00000539054.1_Splice_Site	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)						apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CACAGTGCCCTTCAAGGGAGGA	0.411																																					Ovarian(119;1430 1625 3928 26125 34589)	ENST00000379757.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22						c.e8-2		thioredoxin domain containing 5 (endoplasmic reticulum)																																				SO:0001630	splice_region_variant	81567				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity	g.chr6:7886278_7886279insTCAGAC	AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.964-2->GTCTGA	6.37:g.7886278_7886279insTCAGAC		False	False		Somatic	0				BLOC1S5-TXNDC5_ENST00000539054.1_Splice_Site|TXNDC5_ENST00000473453.1_Splice_Site|BLOC1S5-TXNDC5_ENST00000604490.1_Splice_Site		NM_030810.3	NP_110437.2	WXS	Illumina HiSeq	Phase_I	Q8NBS9	TXND5_HUMAN			8	1001	-	Ovarian(93;0.0398)		NA					B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Splice_Site	INS	ENST00000379757.4	37		CCDS4505.1																																																																																				0.411	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039792.1	0	NM_030810	Intron	6:7886278
CCHCR1	54535	broad.mit.edu	37	6	31124720	31124721	+	Splice_Site	INS	-	-	TAAACT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:31124720_31124721insTAAACT	ENST00000376266.5	-	3	139_140	c.17_18insAGTTTA	c.(16-18)ggt>ggAGTTTAt	p.6_7insVY	TCF19_ENST00000376255.4_5'Flank|CCHCR1_ENST00000396268.3_Splice_Site_p.95_96insVY|TCF19_ENST00000376257.3_5'Flank|CCHCR1_ENST00000396263.2_Splice_Site_p.6_7insVY|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000480060.1_Intron	NM_019052.3	NP_061925.2	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	6					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein export from nucleus (GO:0006611)	centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GCCCAGTGGAACCTGAAGAATT	0.54																																						ENST00000396268.3		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						c.(283-285)ggt>ggAGTTTAt		coiled-coil alpha-helical rod protein 1																																				SO:0001630	splice_region_variant	54535				cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding	g.chr6:31124720_31124721insTAAACT	AF216493	CCDS4695.1, CCDS43445.1, CCDS47397.1	6p21.3	2007-08-01	2005-02-15	2005-02-16	ENSG00000204536	ENSG00000204536			13930	protein-coding gene	gene with protein product		605310	"""chromosome 6 open reading frame 18"""	C6orf18		10888604, 10545595	Standard	NM_019052		Approved	HCR	uc003nsp.4	Q8TD31	OTTHUMG00000031112	ENST00000376266.5:c.17-1->AGTTTA	6.37:g.31124720_31124721insTAAACT		False	False		Somatic	0				CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Intron|CCHCR1_ENST00000376266.5_Splice_Site_p.6_7insVY|CCHCR1_ENST00000396263.2_Splice_Site_p.6_7insVY	p.95_96insVY	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	WXS	Illumina HiSeq	Phase_I	Q8TD31	CCHCR_HUMAN			3	472_473	-			6					A2ABH6|E9PE84|Q2TB67|Q5SQ82|Q5STE9|Q9NRK8|Q9NWY9|Q9NXJ4|Q9NXK3|Q9Y6W1|Q9Y6W2	Splice_Site	INS	ENST00000376266.5	37	c.284_285insAGTTTA	CCDS4695.1																																																																																				0.540	CCHCR1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076190.5	0	NM_019052	In_Frame_Ins	6:31124720
BEND6	221336	broad.mit.edu	37	6	56882101	56882102	+	Frame_Shift_Ins	INS	-	-	ATGTCAACATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:56882101_56882102insATGTCAACATT	ENST00000370746.3	+	5	885_886	c.616_617insATGTCAACATT	c.(616-618)atgfs	p.M206fs	BEND6_ENST00000545789.1_Frame_Shift_Ins_p.M108fs|BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000484701.1_3'UTR	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	206	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAATGAATACATGGCCACTCAC	0.391																																						ENST00000370746.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(616-618)atgfs		BEN domain containing 6																																				SO:0001589	frameshift_variant	221336							g.chr6:56882101_56882102insATGTCAACATT	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	Exception_encountered	6.37:g.56882101_56882102insATGTCAACATT	ENSP00000359782:p.Met206fs	False	False		Somatic	0				BEND6_ENST00000370750.2_3'UTR|BEND6_ENST00000545789.1_Frame_Shift_Ins_p.M108fs|BEND6_ENST00000484701.1_3'UTR	p.M206fs	NM_152731.2	NP_689944.2	WXS	Illumina HiSeq	Phase_I	Q5SZJ8	BEND6_HUMAN			5	885_886	+			206			BEN.		Q4G0W8|Q8N662|Q96NS6	Frame_Shift_Ins	INS	ENST00000370746.3	37	c.616_617insATGTCAACATT	CCDS43476.1																																																																																				0.391	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	0	NM_152731		6:56882101
PHF3	23469	broad.mit.edu	37	6	64404614	64404615	+	In_Frame_Ins	INS	-	-	TTGTTTTTTAAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:64404614_64404615insTTGTTTTTTAAG	ENST00000262043.3	+	6	2980_2981	c.2640_2641insTTGTTTTTTAAG	c.(2641-2643)aca>TTGTTTTTTAAGaca	p.880_881insLFFK	PHF3_ENST00000393387.1_In_Frame_Ins_p.880_881insLFFK			Q92576	PHF3_HUMAN	PHD finger protein 3	880					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CGAAAGAGTCTACAACTGTTAC	0.327																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3		NA																	0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(2641-2643)aca>TTGTTTTTTAAGaca		PHD finger protein 3																																				SO:0001652	inframe_insertion	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64404614_64404615insTTGTTTTTTAAG	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	Exception_encountered	6.37:g.64404614_64404615insTTGTTTTTTAAG	ENSP00000262043:p.Ser880_Thr881insLeuPhePheLys	False	False		Somatic	0				PHF3_ENST00000393387.1_In_Frame_Ins_p.880_881insLFFK	p.880_881insLFFK			WXS	Illumina HiSeq	Phase_I	Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		6	2980_2981	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		880					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	In_Frame_Ins	INS	ENST00000262043.3	37	c.2640_2641insTTGTTTTTTAAG	CCDS4966.1																																																																																				0.327	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2	0			6:64404614
KPNA5	3841	broad.mit.edu	37	6	117010618	117010619	+	Splice_Site	INS	-	-	CAACAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:117010618_117010619insCAACAA	ENST00000368564.1	+	2	286		c.e2+2		KPNA5_ENST00000356348.1_Splice_Site			O15131	IMA6_HUMAN	karyopherin alpha 5 (importin alpha 6)						cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein transporter activity (GO:0008565)			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAGAACAGGTAGGTGTTTTTA	0.257																																						ENST00000368564.1		NA																	0				breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e2+2		karyopherin alpha 5 (importin alpha 6)																																				SO:0001630	splice_region_variant	3841				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity	g.chr6:117010618_117010619insCAACAA	AF005361	CCDS5111.1	6q22.2	2013-02-14			ENSG00000196911	ENSG00000196911		"""Importins"", ""Armadillo repeat containing"""	6398	protein-coding gene	gene with protein product		604545				9395085	Standard	NM_002269		Approved	SRP6, IPOA6	uc003pxh.3	O15131	OTTHUMG00000015448	ENST00000368564.1:c.138+2->CAACAA	6.37:g.117010618_117010619insCAACAA		True	False		Somatic	0				KPNA5_ENST00000356348.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	O15131	IMA5_HUMAN		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)	2	286	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	NA					B2RAI5|Q86X23	Splice_Site	INS	ENST00000368564.1	37		CCDS5111.1																																																																																				0.257	KPNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041967.1	0	NM_002269	Intron	6:117010618
GPRC6A	222545	broad.mit.edu	37	6	117116998	117116999	+	Splice_Site	DEL	GC	GC	-	rs78807485		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:117116998_117116999delGC	ENST00000310357.3	-	5	1570	c.1549delGC	c.(1549-1551)gca>ca	p.A517fs	GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs|GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, class C, group 6, member A	517					calcium-mediated signaling (GO:0019722)|response to amino acid (GO:0043200)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GATTGAATTTGCTATATTAAAA	0.302																																						ENST00000310357.3		NA																	0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65						c.(1549-1551)gca>ca		G protein-coupled receptor, family C, group 6, member A																																				SO:0001630	splice_region_variant	0				response to amino acid stimulus		G-protein coupled receptor activity	g.chr6:117116998_117116999delGC	AF502962	CCDS5112.1, CCDS69184.1, CCDS69185.1	6q22.31	2014-01-30	2014-01-30		ENSG00000173612	ENSG00000173612		"""GPCR / Class C : Calcium-sensing receptors"""	18510	protein-coding gene	gene with protein product			"""G protein-coupled receptor, family C, group 6, member A"""				Standard	NM_001286354		Approved	bA86F4.3	uc003pxj.1	Q5T6X5	OTTHUMG00000015447	ENST00000310357.3:c.1549-1GC>-	6.37:g.117116998_117116999delGC		False	False		Somatic	1				GPRC6A_ENST00000530250.1_Splice_Site_p.A342fs|GPRC6A_ENST00000368549.3_Splice_Site_p.A446fs	p.A517fs	NM_148963.2	NP_683766.2	WXS	Illumina HiSeq	Phase_I	Q5T6X5	GPC6A_HUMAN		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)	5	1570	-		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	517					Q6JK43|Q6JK44|Q8NGU8|Q8NHZ9|Q8TDT6	Splice_Site	DEL	ENST00000310357.3	37	c.1549delGC	CCDS5112.1																																																																																				0.302	GPRC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041966.2	0		Frame_Shift_Del	6:117116998
MOXD1	26002	broad.mit.edu	37	6	132695878	132695879	+	Frame_Shift_Ins	INS	-	-	TCTTTAAAGAATAAGAGAAACAAGTCATATAG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:132695878_132695879insTCTTTAAAGAATAAGAGAAACAAGTCATATAG	ENST00000367963.3	-	2	420_421	c.302_303insCTATATGACTTGTTTCTCTTATTCTTTAAAGA	c.(301-303)gatfs	p.-101fs	MOXD1_ENST00000336749.3_Frame_Shift_Ins_p.-33fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CTTGCTGAGCATCTTTTTTCAA	0.327																																						ENST00000367963.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37						c.(301-303)gatfs		monooxygenase, DBH-like 1																																				SO:0001589	frameshift_variant	26002				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	g.chr6:132695878_132695879insTCTTTAAAGAATAAGAGAAACAAGTCATATAG	AY007239	CCDS5152.2	6q23.2	2010-09-24			ENSG00000079931	ENSG00000079931			21063	protein-coding gene	gene with protein product		609000				9751809	Standard	XM_006715456		Approved	DKFZP564G202, MOX, dJ248E1.1	uc003qdf.3	Q6UVY6	OTTHUMG00000055853	ENST00000367963.3:c.302_303insCTATATGACTTGTTTCTCTTATTCTTTAAAGA	6.37:g.132695878_132695879insTCTTTAAAGAATAAGAGAAACAAGTCATATAG	ENSP00000356940:p.Asp101fs	False	False		Somatic	0				MOXD1_ENST00000336749.3_Frame_Shift_Ins_p.-33fs	p.-101fs	NM_015529.2	NP_056344.2	WXS	Illumina HiSeq	Phase_I	Q6UVY6	MOXD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)	2	420_421	-	Breast(56;0.0495)		NA					Q5THU6|Q8NC97|Q8WV49|Q9H4M6|Q9Y4U3	Frame_Shift_Ins	INS	ENST00000367963.3	37	c.302_303insCTATATGACTTGTTTCTCTTATTCTTTAAAGA	CCDS5152.2																																																																																				0.327	MOXD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000125837.1	0	NM_015529		6:132695878
LTV1	84946	broad.mit.edu	37	6	144184385	144184386	+	Frame_Shift_Ins	INS	-	-	TTCGAATTTGTTTGGGCTGAAATACAGAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:144184385_144184386insTTCGAATTTGTTTGGGCTGAAATACAGAT	ENST00000367576.5	+	10	1413_1414	c.1279_1280insTTCGAATTTGTTTGGGCTGAAATACAGAT	c.(1279-1281)aaafs	p.K427fs	ZC2HC1B_ENST00000237275.6_5'Flank|ZC2HC1B_ENST00000539295.1_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	427						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CAAAGAAGATAAAAGAGCAAGA	0.356																																						ENST00000367576.5		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(1279-1281)aaafs		LTV1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	84946							g.chr6:144184385_144184386insTTCGAATTTGTTTGGGCTGAAATACAGAT	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	Exception_encountered	6.37:g.144184385_144184386insTTCGAATTTGTTTGGGCTGAAATACAGAT	ENSP00000356548:p.Lys427fs	True	False		Somatic	0					p.K427fs	NM_032860.3	NP_116249.2	WXS	Illumina HiSeq	Phase_I	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	10	1413_1414	+			427					Q96JX8	Frame_Shift_Ins	INS	ENST00000367576.5	37	c.1279_1280insTTCGAATTTGTTTGGGCTGAAATACAGAT	CCDS5201.1																																																																																				0.356	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	0	NM_032860		6:144184385
AKAP12	9590	broad.mit.edu	37	6	151670330	151670332	+	In_Frame_Del	DEL	AGG	AGG	-	rs139326971|rs377106873|rs111963593|rs111653642	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:151670330_151670332delAGG	ENST00000253332.1	+	3	993_995	c.804_806delAGG	c.(802-807)gaagga>gaa	p.G269del	AKAP12_ENST00000359755.5_In_Frame_Del_p.G164del|AKAP12_ENST00000354675.6_In_Frame_Del_p.G171del|AKAP12_ENST00000402676.2_In_Frame_Del_p.G269del|snoU13_ENST00000458767.1_RNA			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	269	Involved in PKC-binding. {ECO:0000305}.				G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GCAAAGAGGAAGGAGAAGAGAAA	0.478														249	0.0497204	0.1732	0.0159	5008	,	,		18559	0.0069		0.002	False		,,,				2504	0.0				Melanoma(141;1616 1805 10049 24534 51979)	ENST00000253332.1		NA																	0				breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68						c.(802-807)gaagga>gaa		A kinase (PRKA) anchor protein 12			,	641,3623		41,559,1532					,	-0.7	0.1		dbSNP_132	51	10,8242		2,6,4118	no	coding,coding	AKAP12	NM_144497.2,NM_005100.3	,	43,565,5650	A1A1,A1R,RR		0.1212,15.0328,5.2013	,	,		651,11865				SO:0001651	inframe_deletion	9590				G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding	g.chr6:151670330_151670332delAGG	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.804_806delAGG	6.37:g.151670330_151670332delAGG	ENSP00000253332:p.Gly269del	True	False		Somatic	1				AKAP12_ENST00000354675.6_In_Frame_Del_p.G171del|AKAP12_ENST00000359755.5_In_Frame_Del_p.G164del|AKAP12_ENST00000402676.2_In_Frame_Del_p.G269del	p.G269del			WXS	Illumina HiSeq	Phase_I	Q02952	AKA12_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)	3	993_995	+		Ovarian(120;0.125)	269			Involved in PKC-binding (Probable).		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	In_Frame_Del	DEL	ENST00000253332.1	37	c.804_806delAGG	CCDS5229.1																																																																																				0.478	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1	0			6:151670330
CCDC170	80129	broad.mit.edu	37	6	151869618	151869619	+	In_Frame_Ins	INS	-	-	TCCTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:151869618_151869619insTCCTAT	ENST00000239374.7	+	5	867_868	c.768_769insTCCTAT	c.(769-771)aac>TCCTATaac	p.256_257insSY	CCDC170_ENST00000367290.5_In_Frame_Ins_p.256_257insSY	NM_025059.3	NP_079335.2	Q8IYT3	CC170_HUMAN	coiled-coil domain containing 170	256																	AAGAGAAGCTGAACCAGGTATG	0.446																																						ENST00000239374.7		NA																	0					NA						c.(769-771)aac>TCCTATaac		coiled-coil domain containing 170																																				SO:0001652	inframe_insertion	80129							g.chr6:151869618_151869619insTCCTAT	AK026958	CCDS43515.1	6q25.1	2012-03-26	2012-03-26	2012-03-26	ENSG00000120262	ENSG00000120262			21177	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 97"""	C6orf97			Standard	NM_025059		Approved	FLJ23305, bA282P11.1	uc003qol.3	Q8IYT3	OTTHUMG00000015839	Exception_encountered	6.37:g.151869618_151869619insTCCTAT	ENSP00000239374:p.Leu256_Asn257insSerTyr	False	False		Somatic	0				CCDC170_ENST00000367290.5_In_Frame_Ins_p.256_257insSY	p.256_257insSY	NM_025059.3	NP_079335.2	WXS	Illumina HiSeq	Phase_I	Q8IYT3	CF097_HUMAN			5	867_868	+			256					Q5VXB7|Q6P9E4|Q96KA9|Q9H5M3	In_Frame_Ins	INS	ENST00000239374.7	37	c.768_769insTCCTAT	CCDS43515.1																																																																																				0.446	CCDC170-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042727.2	0	NM_025059		6:151869618
LPA	4018	broad.mit.edu	37	6	161020669	161020670	+	Frame_Shift_Ins	INS	-	-	ATAAGCGAAGGAAGGG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	ENST00000316300.5	-	20	3193_3194	c.3149_3150insCCCTTCCTTCGCTTAT	c.(3148-3150)gggfs	p.-1050fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCTGTACCCCGGGGGTTTC	0.436																																						ENST00000316300.5		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3148-3150)gggfs		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)																																			SO:0001589	frameshift_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3149_3150insCCCTTCCTTCGCTTAT	6.37:g.161020669_161020670insATAAGCGAAGGAAGGG	ENSP00000321334:p.Gly1050fs	True	False		Somatic	0				LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs	p.-1050fs			WXS	Illumina HiSeq	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	20	3193_3194	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	NA					Q5VTD7|Q9UD88	Frame_Shift_Ins	INS	ENST00000316300.5	37	c.3149_3150insCCCTTCCTTCGCTTAT	CCDS43523.1																																																																																				0.436	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	NM_005577		6:161020669
PLG	5340	broad.mit.edu	37	6	161174080	161174083	+	Frame_Shift_Del	DEL	TGAG	TGAG	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TGAG	TGAG	-	-	TGAG	TGAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:161174080_161174083delTGAG	ENST00000308192.9	+	19	2483_2486	c.2420_2423delTGAG	c.(2419-2424)atgagafs	p.MR807fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	807	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGGGAGTGATGAGAAATAATTAA	0.471																																						ENST00000308192.9		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(2419-2424)atgagafs		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)																																			SO:0001589	frameshift_variant	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161174080_161174083delTGAG	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.2420_2423delTGAG	6.37:g.161174080_161174083delTGAG	ENSP00000308938:p.Met807fs	False	False		Somatic	1					p.MR807fs	NM_000301.3	NP_000292.1	WXS	Illumina HiSeq	Phase_I	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	19	2483_2486	+			807			Peptidase S1.		Q15146|Q5TEH4|Q6PA00	Frame_Shift_Del	DEL	ENST00000308192.9	37	c.2420_2423delTGAG	CCDS5279.1																																																																																				0.471	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	0	NM_000301		6:161174080
MPP6	51678	broad.mit.edu	37	7	24690269	24690270	+	Frame_Shift_Ins	INS	-	-	AGAAACAGATTTC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:24690269_24690270insAGAAACAGATTTC	ENST00000222644.5	+	5	839_840	c.589_590insAGAAACAGATTTC	c.(589-591)attfs	p.I197fs	MPP6_ENST00000396475.2_Frame_Shift_Ins_p.I197fs|MPP6_ENST00000409761.1_Frame_Shift_Ins_p.I85fs			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ACTGAAAAATATTAGTGGAAGT	0.317																																						ENST00000396475.2		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						c.(589-591)attfs		membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)																																				SO:0001589	frameshift_variant	51678				protein complex assembly		protein binding	g.chr7:24690269_24690270insAGAAACAGATTTC	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	Exception_encountered	7.37:g.24690269_24690270insAGAAACAGATTTC	ENSP00000222644:p.Ile197fs	False	False		Somatic	0				MPP6_ENST00000409761.1_Frame_Shift_Ins_p.I85fs|MPP6_ENST00000222644.4_Frame_Shift_Ins_p.I197fs	p.I197fs	NM_016447.2	NP_057531.2	WXS	Illumina HiSeq	Phase_I	Q9NZW5	MPP6_HUMAN			6	888_889	+			197			PDZ.		B2RAF0	Frame_Shift_Ins	INS	ENST00000222644.5	37	c.589_590insAGAAACAGATTTC	CCDS5388.1																																																																																				0.317	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4	0			7:24690269
STEAP4	79689	broad.mit.edu	37	7	87910338	87910339	+	Frame_Shift_Ins	INS	-	-	TTAAAAATTCAAATTA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:87910338_87910339insTTAAAAATTCAAATTA	ENST00000380079.4	-	4	1141_1142	c.1040_1041insTAATTTGAATTTTTAA	c.(1039-1041)tcafs	p.-347fs	STEAP4_ENST00000301959.5_Frame_Shift_Ins_p.-171fs|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000600908.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4						copper ion import (GO:0015677)|fat cell differentiation (GO:0045444)|ferric iron import into cell (GO:0097461)|iron ion homeostasis (GO:0055072)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cupric reductase activity (GO:0008823)|ferric-chelate reductase (NADPH) activity (GO:0052851)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					AAGCCACATATGAATCACTGAG	0.386																																						ENST00000380079.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15						c.(1039-1041)tcafs		STEAP family member 4																																				SO:0001589	frameshift_variant	79689				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:87910338_87910339insTTAAAAATTCAAATTA	AK026806	CCDS43611.1, CCDS56494.1	7q21.13	2014-01-28	2005-06-15	2005-06-15	ENSG00000127954	ENSG00000127954			21923	protein-coding gene	gene with protein product		611098	"""tumor necrosis factor, alpha-induced protein 9"""	TNFAIP9		11443137, 15897894	Standard	NM_024636		Approved	FLJ23153, TIARP, STAMP2	uc003ujs.3	Q687X5	OTTHUMG00000153853	ENST00000380079.4:c.1040_1041insTAATTTGAATTTTTAA	7.37:g.87910338_87910339insTTAAAAATTCAAATTA	ENSP00000369419:p.Ser347fs	False	False		Somatic	0				AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000301959.5_Frame_Shift_Ins_p.-171fs|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA	p.-347fs	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	WXS	Illumina HiSeq	Phase_I	Q687X5	STEA4_HUMAN			4	1141_1142	-	Esophageal squamous(14;0.00802)		NA					Q658Q9|Q687X4|Q8WWB0|Q9H5R1	Frame_Shift_Ins	INS	ENST00000380079.4	37	c.1040_1041insTAATTTGAATTTTTAA	CCDS43611.1																																																																																				0.386	STEAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332712.4	0	NM_024636		7:87910338
INADL	10207	broad.mit.edu	37	1	62288675	62288676	+	In_Frame_Ins	INS	-	-	AAATCC			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:62288675_62288676insAAATCC	ENST00000371158.2	+	15	1856_1857	c.1742_1743insAAATCC	c.(1741-1746)cattat>caAAATCCttat	p.581_581H>QNP	INADL_ENST00000316485.6_In_Frame_Ins_p.581_581H>QNP	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	581	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)		p.H581R(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGGGCACCATTATATTTCTT	0.426																																						ENST00000371158.2		NA																	1	Substitution - Missense(1)	p.H581R(1)	kidney(1)	breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						c.(1741-1746)cattat>caAAATCCttat		InaD-like (Drosophila)																																				SO:0001652	inframe_insertion	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62288675_62288676insAAATCC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	Exception_encountered	1.37:g.62288675_62288676insAAATCC	ENSP00000360200:p.His581delinsGlnAsnPro	False	False		Somatic	0				INADL_ENST00000316485.6_In_Frame_Ins_p.581_581H>QNP	p.581_581H>QNP	NM_176877.2	NP_795352.2	WXS	Illumina HiSeq	Phase_I	Q8NI35	INADL_HUMAN			15	1856_1857	+			581			PDZ 4.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	In_Frame_Ins	INS	ENST00000371158.2	37	c.1742_1743insAAATCC	CCDS617.2																																																																																				0.426	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	0	NM_170605		1:62288675
AK4	205	broad.mit.edu	37	1	65684525	65684526	+	Frame_Shift_Ins	INS	-	-	TTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:65684525_65684526insTTTT	ENST00000327299.7	+	3	559_560	c.354_355insTTTT	c.(355-357)cttfs	p.L119fs	AK4_ENST00000545314.1_Frame_Shift_Ins_p.L119fs|AK4_ENST00000546702.1_Frame_Shift_Ins_p.L67fs|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000395334.2_Frame_Shift_Ins_p.L119fs	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						CATTTGAAACACTTAAAGATCG	0.421																																						ENST00000327299.7		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						c.(355-357)cttfs		adenylate kinase 4																																				SO:0001589	frameshift_variant	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65684525_65684526insTTTT	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	Exception_encountered	1.37:g.65684525_65684526insTTTT	ENSP00000322175:p.Leu119fs	False	False		Somatic	0				AK4_ENST00000546702.1_Frame_Shift_Ins_p.L67fs|AK4_ENST00000545314.1_Frame_Shift_Ins_p.L119fs|AK4_ENST00000395334.2_Frame_Shift_Ins_p.L119fs|AK4_ENST00000470888.2_3'UTR	p.L119fs	NM_013410.3	NP_037542.1	WXS	Illumina HiSeq	Phase_I	P27144	KAD4_HUMAN			3	559_560	+			119						Frame_Shift_Ins	INS	ENST00000327299.7	37	c.354_355insTTTT	CCDS629.1																																																																																				0.421	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	0	NM_013410		1:65684525
AK4	205	broad.mit.edu	37	1	65684526	65684527	+	Frame_Shift_Ins	INS	-	-	AGTGACAGAA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:65684526_65684527insAGTGACAGAA	ENST00000327299.7	+	3	560_561	c.355_356insAGTGACAGAA	c.(355-357)cttfs	p.L119fs	AK4_ENST00000545314.1_Frame_Shift_Ins_p.L119fs|AK4_ENST00000546702.1_Frame_Shift_Ins_p.L67fs|AK4_ENST00000470888.2_3'UTR|AK4_ENST00000395334.2_Frame_Shift_Ins_p.L119fs	NM_013410.3	NP_037542.1			adenylate kinase 4											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						ATTTGAAACACTTAAAGATCGT	0.421																																						ENST00000327299.7		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						c.(355-357)cttfs		adenylate kinase 4																																				SO:0001589	frameshift_variant	205					mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding	g.chr1:65684526_65684527insAGTGACAGAA	AK025926	CCDS629.1	1p31.3	2012-10-02	2010-06-15	2010-06-15	ENSG00000162433	ENSG00000162433	2.7.4.3	"""Adenylate kinases"""	363	protein-coding gene	gene with protein product		103030	"""adenylate kinase 3"", ""adenylate kinase 3-like 1"""	AK3, AK3L1		11485571	Standard	NM_203464		Approved		uc001dby.3	P27144	OTTHUMG00000009033	Exception_encountered	1.37:g.65684526_65684527insAGTGACAGAA	ENSP00000322175:p.Leu119fs	False	False		Somatic	0				AK4_ENST00000546702.1_Frame_Shift_Ins_p.L67fs|AK4_ENST00000545314.1_Frame_Shift_Ins_p.L119fs|AK4_ENST00000395334.2_Frame_Shift_Ins_p.L119fs|AK4_ENST00000470888.2_3'UTR	p.L119fs	NM_013410.3	NP_037542.1	WXS	Illumina HiSeq	Phase_I	P27144	KAD4_HUMAN			3	560_561	+			119						Frame_Shift_Ins	INS	ENST00000327299.7	37	c.355_356insAGTGACAGAA	CCDS629.1																																																																																				0.421	AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025040.2	0	NM_013410		1:65684526
SLC26A3	1811	broad.mit.edu	37	7	107432381	107432382	+	Frame_Shift_Ins	INS	-	-	CACATTGTTTTTTCCTTATG			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	ENST00000340010.5	-	4	459_460	c.275_276insCATAAGGAAAAAACAATGTG	c.(274-276)ttafs	p.L92fs	SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	92					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.L92S(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GAGCAAATGCTAAACCTGTAAA	0.421																																						ENST00000340010.5		NA																	1	Substitution - Missense(1)	p.L92S(1)	lung(1)	breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						c.(274-276)ttafs		solute carrier family 26 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	1811				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr7:107432381_107432382insCACATTGTTTTTTCCTTATG	L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.275_276insCATAAGGAAAAAACAATGTG	7.37:g.107432381_107432382insCACATTGTTTTTTCCTTATG	ENSP00000345873:p.Leu92fs	True	False		Somatic	0				SLC26A3_ENST00000422236.2_Frame_Shift_Ins_p.L57fs	p.L92fs	NM_000111.2	NP_000102.1	WXS	Illumina HiSeq	Phase_I	P40879	S26A3_HUMAN			4	459_460	-			92						Frame_Shift_Ins	INS	ENST00000340010.5	37	c.275_276insCATAAGGAAAAAACAATGTG	CCDS5748.1																																																																																				0.421	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	0	NM_000111		7:107432381
LAMB4	22798	broad.mit.edu	37	7	107689949	107689950	+	Frame_Shift_Ins	INS	-	-	ATCCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:107689949_107689950insATCCA	ENST00000388781.3	-	27	4026_4027	c.3943_3944insTGGAT	c.(3943-3945)tatfs	p.Y1315fs	LAMB4_ENST00000205386.4_Frame_Shift_Ins_p.Y1315fs|LAMB4_ENST00000388780.3_Frame_Shift_Ins_p.Y1315fs	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1315	Domain II.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGATATGTGATAATATTTCTTG	0.277																																						ENST00000388781.3		NA																	0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3943-3945)tatfs		laminin, beta 4																																				SO:0001589	frameshift_variant	22798				cell adhesion	basement membrane		g.chr7:107689949_107689950insATCCA	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3943_3944insTGGAT	7.37:g.107689949_107689950insATCCA	ENSP00000373433:p.Tyr1315fs	False	False		Somatic	0				LAMB4_ENST00000388780.3_Frame_Shift_Ins_p.Y1315fs|LAMB4_ENST00000205386.4_Frame_Shift_Ins_p.Y1315fs	p.Y1315fs	NM_007356.2	NP_031382.2	WXS	Illumina HiSeq	Phase_I	A4D0S4	LAMB4_HUMAN			27	4026_4027	-			1315			Domain II.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Frame_Shift_Ins	INS	ENST00000388781.3	37	c.3943_3944insTGGAT	CCDS34732.1																																																																																				0.277	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	0	XM_209857		7:107689949
EYA1	2138	broad.mit.edu	37	8	72211376	72211377	+	Frame_Shift_Ins	INS	-	-	ATATTTTCAATGGTTTCAATGCATT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:72211376_72211377insATATTTTCAATGGTTTCAATGCATT	ENST00000340726.3	-	9	1370_1371	c.731_732insAATGCATTGAAACCATTGAAAATAT	c.(730-732)aacfs	p.N244fs	EYA1_ENST00000388742.4_Frame_Shift_Ins_p.N244fs|EYA1_ENST00000388743.2_Frame_Shift_Ins_p.N243fs|EYA1_ENST00000419131.1_Frame_Shift_Ins_p.N239fs|EYA1_ENST00000303824.7_Frame_Shift_Ins_p.N238fs|EYA1_ENST00000388741.2_Frame_Shift_Ins_p.N210fs|EYA1_ENST00000388740.3_Frame_Shift_Ins_p.N211fs	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	EYA transcriptional coactivator and phosphatase 1	244					anatomical structure morphogenesis (GO:0009653)|aorta morphogenesis (GO:0035909)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular protein localization (GO:0034613)|cochlea morphogenesis (GO:0090103)|double-strand break repair (GO:0006302)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of mitotic spindle orientation (GO:0000132)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|histone dephosphorylation (GO:0016576)|lung epithelial cell differentiation (GO:0060487)|metanephros development (GO:0001656)|middle ear morphogenesis (GO:0042474)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neuron fate specification (GO:0048665)|otic vesicle morphogenesis (GO:0071600)|outer ear morphogenesis (GO:0042473)|outflow tract morphogenesis (GO:0003151)|pattern specification process (GO:0007389)|pharyngeal system development (GO:0060037)|positive regulation of DNA repair (GO:0045739)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of secondary heart field cardioblast proliferation (GO:0072513)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of neuron differentiation (GO:0045664)|response to ionizing radiation (GO:0010212)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|RNA binding (GO:0003723)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTGGGCTGGTGTTGCTGCTGGT	0.495																																						ENST00000340726.3		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44						c.(730-732)aacfs		eyes absent homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	2138				double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr8:72211376_72211377insATATTTTCAATGGTTTCAATGCATT	AJ000098	CCDS34906.1, CCDS34907.1, CCDS47873.1, CCDS75750.1	8q13.3	2014-06-19	2014-06-19		ENSG00000104313	ENSG00000104313		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3519	protein-coding gene	gene with protein product		601653	"""eyes absent (Drosophila) homolog 1"", ""eyes absent homolog 1 (Drosophila)"""	BOR		9020840	Standard	XM_005251184		Approved		uc003xys.4	Q99502	OTTHUMG00000149894	ENST00000340726.3:c.731_732insAATGCATTGAAACCATTGAAAATAT	8.37:g.72211376_72211377insATATTTTCAATGGTTTCAATGCATT	ENSP00000342626:p.Asn244fs	False	False		Somatic	0				EYA1_ENST00000388743.2_Frame_Shift_Ins_p.N243fs|EYA1_ENST00000303824.7_Frame_Shift_Ins_p.N238fs|EYA1_ENST00000388740.3_Frame_Shift_Ins_p.N211fs|EYA1_ENST00000388742.4_Frame_Shift_Ins_p.N244fs|EYA1_ENST00000388741.2_Frame_Shift_Ins_p.N210fs|EYA1_ENST00000419131.1_Frame_Shift_Ins_p.N239fs	p.N244fs	NM_000503.4	NP_000494.2	WXS	Illumina HiSeq	Phase_I	Q99502	EYA1_HUMAN	Epithelial(68;0.0837)|all cancers(69;0.247)		9	1370_1371	-	Breast(64;0.046)		244					A6NHQ0|G5E9R4|Q0P516|Q8WX80	Frame_Shift_Ins	INS	ENST00000340726.3	37	c.731_732insAATGCATTGAAACCATTGAAAATAT	CCDS34906.1																																																																																				0.495	EYA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313788.2	0	NM_000503, NM_172060		8:72211376
GDAP1	54332	broad.mit.edu	37	8	75275286	75275287	+	In_Frame_Ins	INS	-	-	TTTAAAAAAAATAAATCT	rs121908114|rs181157785	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:75275286_75275287insTTTAAAAAAAATAAATCT	ENST00000220822.7	+	5	772_773	c.692_693insTTTAAAAAAAATAAATCT	c.(691-696)ccagaa>ccTTTAAAAAAAATAAATCTagaa	p.231_232PE>PLKKINLE	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_In_Frame_Ins_p.163_164PE>PLKKINLE	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	231	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAGAAACCCCAGGTAGGTTCT	0.347																																						ENST00000220822.7		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	GRCh37	CM083517	GDAP1	M	rs121908114	c.(691-696)ccagaa>ccTTTAAAAAAAATAAATCTagaa		ganglioside induced differentiation associated protein 1																																				SO:0001652	inframe_insertion	54332					cytoplasm		g.chr8:75275286_75275287insTTTAAAAAAAATAAATCT		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		Exception_encountered	8.37:g.75275286_75275287insTTTAAAAAAAATAAATCT	ENSP00000220822:p.Pro231_Glu232insLeuLysLysIleAsnLeu	True	False		Somatic	0				GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_In_Frame_Ins_p.163_164PE>PLKKINLE	p.231_232PE>PLKKINLE	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	WXS	Illumina HiSeq	Phase_I	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		5	772_773	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	231			GST C-terminal.		A8K957|E7FJF3|E7FJF4	In_Frame_Ins	INS	ENST00000220822.7	37	c.692_693insTTTAAAAAAAATAAATCT	CCDS34911.1																																																																																				0.347	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	0	NM_018972		8:75275286
RUNX1T1	862	broad.mit.edu	37	8	93004024	93004025	+	In_Frame_Ins	INS	-	-	CTGAACTTAACTTGA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:93004024_93004025insCTGAACTTAACTTGA	ENST00000523629.1	-	7	1287_1288	c.833_834insTCAAGTTAAGTTCAG	c.(832-834)cca>ccTCAAGTTAAGTTCAGa	p.278_279insQVKFR	RUNX1T1_ENST00000265814.3_In_Frame_Ins_p.278_279insQVKFR|RUNX1T1_ENST00000436581.2_In_Frame_Ins_p.289_290insQVKFR|RUNX1T1_ENST00000520724.1_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000360348.2_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000396218.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000518844.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000422361.2_In_Frame_Ins_p.241_242insQVKFR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	278					fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGCCGTTATTTGGACTGTACCG	0.52																																						ENST00000523629.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(832-834)cca>ccTCAAGTTAAGTTCAGa		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)																																				SO:0001652	inframe_insertion	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93004024_93004025insCTGAACTTAACTTGA	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.833_834insTCAAGTTAAGTTCAG	8.37:g.93004024_93004025insCTGAACTTAACTTGA	ENSP00000428543:p.Pro278_Asn279insGlnValLysPheArg	True	False		Somatic	0				RUNX1T1_ENST00000520724.1_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000436581.2_In_Frame_Ins_p.289_290insQVKFR|RUNX1T1_ENST00000422361.2_In_Frame_Ins_p.241_242insQVKFR|RUNX1T1_ENST00000396218.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000265814.3_In_Frame_Ins_p.278_279insQVKFR|RUNX1T1_ENST00000518844.1_In_Frame_Ins_p.251_252insQVKFR|RUNX1T1_ENST00000360348.2_In_Frame_Ins_p.241_242insQVKFR	p.278_279insQVKFR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	WXS	Illumina HiSeq	Phase_I	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		7	1287_1288	-			278					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	In_Frame_Ins	INS	ENST00000523629.1	37	c.833_834insTCAAGTTAAGTTCAG	CCDS6256.1																																																																																				0.520	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	0	NM_004349, NM_175635		8:93004024
OXR1	55074	broad.mit.edu	37	8	107726158	107726159	+	Frame_Shift_Ins	INS	-	-	TAAATCTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:107726158_107726159insTAAATCTT	ENST00000442977.2	+	10	2003_2004	c.1904_1905insTAAATCTT	c.(1903-1908)gaggagfs	p.EE635fs	OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs|OXR1_ENST00000517566.2_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs|OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1	635					adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAGATTGAGGAGTCTGAAA	0.361																																						ENST00000517566.2		NA																	0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1900-1905)gaggagfs		oxidation resistance 1																																				SO:0001589	frameshift_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107726158_107726159insTAAATCTT	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	Exception_encountered	8.37:g.107726158_107726159insTAAATCTT	ENSP00000405424:p.Glu635fs	False	False		Somatic	0				OXR1_ENST00000445937.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000531443.1_Frame_Shift_Ins_p.EE634fs|OXR1_ENST00000442977.2_Frame_Shift_Ins_p.EE635fs|OXR1_ENST00000312046.6_Frame_Shift_Ins_p.EE627fs|OXR1_ENST00000452423.2_Frame_Shift_Ins_p.EE124fs	p.EE634fs	NM_001198533.1	NP_001185462.1	WXS	Illumina HiSeq	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		10	2039_2040	+			635					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	Frame_Shift_Ins	INS	ENST00000442977.2	37	c.1901_1902insTAAATCTT	CCDS56548.1																																																																																				0.361	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_181354		8:107726158
MTBP	27085	broad.mit.edu	37	8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTTGTTAAGTAT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:121500556_121500557insATTATCTTGTTAAGTAT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTTGTTAAGTAT	c.(1324-1326)gaafs	p.E442fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	MDM2 binding protein	442					cell cycle arrest (GO:0007050)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cell proliferation (GO:0008285)|protein localization to kinetochore (GO:0034501)|traversing start control point of mitotic cell cycle (GO:0007089)	chromatin (GO:0000785)|kinetochore (GO:0000776)				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACAAAGACAGAAGAAGCCAA	0.351																																						ENST00000305949.1		NA																	0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30						c.(1324-1326)gaafs		Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa																																				SO:0001589	frameshift_variant	27085				cell cycle arrest			g.chr8:121500556_121500557insATTATCTTGTTAAGTAT		CCDS6333.1	8q24.1-q24.2	2014-03-03	2014-03-03		ENSG00000172167	ENSG00000172167			7417	protein-coding gene	gene with protein product		605927	"""MDM2 (mouse double minute 2)-binding protein, 104kD"", ""Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa"""			10906133, 11060448	Standard	NM_022045		Approved		uc003ypc.2	Q96DY7	OTTHUMG00000165040	Exception_encountered	8.37:g.121500556_121500557insATTATCTTGTTAAGTAT	ENSP00000303398:p.Glu442fs	False	False		Somatic	0					p.E442fs	NM_022045.3	NP_071328.2	WXS	Illumina HiSeq	Phase_I	Q96DY7	MTBP_HUMAN	STAD - Stomach adenocarcinoma(47;0.00503)		12	1368_1369	+	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		442					B4DUR5|Q9HA89	Frame_Shift_Ins	INS	ENST00000305949.1	37	c.1323_1324insATTATCTTGTTAAGTAT	CCDS6333.1																																																																																				0.351	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	0	NM_022045		8:121500556
PTK2	5747	broad.mit.edu	37	8	141774449	141774450	+	Intron	INS	-	-	AAGTTATTGATACTTACTGTCTTTT			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTTT	ENST00000522684.1	-	15	1407				PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000519465.1_Start_Codon_Ins|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000521059.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327																																						ENST00000519465.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48								protein tyrosine kinase 2																																				SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTTT	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-60->AAAAGACAGTAAGTATCAATAACTT	8.37:g.141774449_141774450insAAGTTATTGATACTTACTGTCTTTT		False	False		Somatic	0				PTK2_ENST00000521059.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron				WXS	Illumina HiSeq	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		0	172_173	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	NA					B4E2N6|F5H4S4|Q14291|Q9UD85	Translation_Start_Site	INS	ENST00000522684.1	37		CCDS6381.1																																																																																				0.327	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	NM_005607		8:141774449
CDKN2A	1029	broad.mit.edu	37	9	21971010	21971026	+	Frame_Shift_Del	DEL	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	rs575031539|rs104894104|rs387906410|rs121913386|rs587782797		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	-	-	GTCCACGGGCAGACGGC	GTCCACGGGCAGACGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	ENST00000304494.5	-	2	602_618	c.332_348delGCCGTCTGCCCGTGGAC	c.(331-348)ggccgtctgcccgtggacfs	p.GRLPVD111fs	CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.GRLPVD60fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	111					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCTCAGCCAGGTCCACGGGCAGACGGCCCCAGGCATC	0.728	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000479692.2	P114L(SKMEL30_SKIN)|P114L(WM983B_SKIN)	17																	1426	Whole gene deletion(1316)|Substitution - Missense(52)|Unknown(44)|Deletion - Frameshift(6)|Substitution - coding silent(6)|Insertion - Frameshift(2)	p.0?(1315)|p.?(44)|p.P114L(27)|p.R112G(4)|p.V115L(4)|p.G111G(3)|p.P114H(3)|p.D116Y(2)|p.P114S(2)|p.H83fs*2(2)|p.D116V(1)|p.V115fs*11(1)|p.A169A(1)|p.R107fs*33(1)|p.D116N(1)|p.P167S(1)|p.R112S(1)|p.R112P(1)|p.A68fs*3(1)|p.G111D(1)|p.D105fs*8(1)|p.0(1)|p.L113L(1)|p.L113M(1)|p.L113P(1)|p.R170L(1)|p.V115fs*3(1)|p.P114P(1)|p.R112fs*32(1)|p.V115E(1)	haematopoietic_and_lymphoid_tissue(285)|skin(196)|central_nervous_system(168)|lung(151)|urinary_tract(95)|bone(74)|upper_aerodigestive_tract(61)|soft_tissue(58)|oesophagus(54)|pleura(51)|ovary(36)|pancreas(35)|kidney(32)|breast(32)|biliary_tract(15)|thyroid(13)|NS(13)|stomach(12)|autonomic_ganglia(9)|liver(8)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)|cervix(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI962238|CM004887|CM013695|CM014526|CM983988|CX073790	CDKN2A	I|M|X	rs104894104|rs121913386	c.(178-195)ggccgtctgcccgtggacfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971010_21971026delGTCCACGGGCAGACGGC	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.332_348delGCCGTCTGCCCGTGGAC	9.37:g.21971010_21971026delGTCCACGGGCAGACGGC	ENSP00000307101:p.Gly111fs	True	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.PSARGP167fs|CDKN2A_ENST00000579755.1_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.GRLPVD111fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.PSARGP126fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.GRLPVD60fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.GRLPVD60fs|RP11-145E5.5_ENST00000404796.2_Intron	p.GRLPVD60fs			WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	193_209	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	111		A -> T.|A -> V (in melanoma; loss of CDK4 binding; dbSNP:rs36204594).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.179_195delGCCGTCTGCCCGTGGAC	CCDS6510.1																																																																																				0.728	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971010
PRRC2B	84726	broad.mit.edu	37	9	134353997	134353998	+	In_Frame_Ins	INS	-	-	TCTTTCCACTCACCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr9:134353997_134353998insTCTTTCCACTCACCA	ENST00000357304.4	+	17	4804_4805	c.4749_4750insTCTTTCCACTCACCA	c.(4750-4752)gcc>TCTTTCCACTCACCAgcc	p.1583_1584insSFHSP	PRRC2B_ENST00000405995.1_In_Frame_Ins_p.889_890insSFHSP|PRRC2B_ENST00000458550.1_In_Frame_Ins_p.889_890insSFHSP|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1583							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						AGAAGGAGCAGGCCGTGCAGGT	0.629											OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000405995.1		NA																	0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						c.(2668-2670)gcc>TCTTTCCACTCACCAgcc		proline-rich coiled-coil 2B																																				SO:0001652	inframe_insertion	84726						protein binding	g.chr9:134353997_134353998insTCTTTCCACTCACCA	AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	Exception_encountered	9.37:g.134353997_134353998insTCTTTCCACTCACCA	ENSP00000349856:p.Gln1583_Ala1584insSerPheHisSerPro	False	False		Somatic	0	OREG0019562	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1610	PRRC2B_ENST00000357304.4_In_Frame_Ins_p.1583_1584insSFHSP|PRRC2B_ENST00000458550.1_In_Frame_Ins_p.889_890insSFHSP|PRRC2B_ENST00000372249.1_5'UTR	p.889_890insSFHSP			WXS	Illumina HiSeq	Phase_I	Q5JSZ5	PRC2B_HUMAN			17	2893_2894	+			1583					O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	In_Frame_Ins	INS	ENST00000357304.4	37	c.2667_2668insTCTTTCCACTCACCA	CCDS48044.1																																																																																				0.629	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:134353997
IL15RA	3601	broad.mit.edu	37	10	6002418	6002419	+	Frame_Shift_Ins	INS	-	-	TATACCATCA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:6002418_6002419insTATACCATCA	ENST00000379977.3	-	4	591_592	c.494_495insTGATGGTATA	c.(493-495)atafs	p.I165fs	IL15RA_ENST00000534292.1_De_novo_Start_InFrame|IL15RA_ENST00000397255.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000379971.1_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000528354.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000525219.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000397250.2_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000397251.3_Frame_Shift_Ins_p.I100fs|IL15RA_ENST00000397248.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000530685.1_Frame_Shift_Ins_p.I132fs			Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	165					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|negative regulation of neuron projection development (GO:0010977)|positive regulation of natural killer cell differentiation (GO:0032825)|response to nutrient levels (GO:0031667)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						CATGACTGCTTATCTCTGTGGT	0.574																																						ENST00000534292.1		NA																	0				cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5								interleukin 15 receptor, alpha																																				SO:0001589	frameshift_variant	3601				cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity	g.chr10:6002418_6002419insTATACCATCA	U31628	CCDS7074.1, CCDS7075.1, CCDS7075.2, CCDS58069.1, CCDS73065.1	10p15.1	2012-02-27			ENSG00000134470	ENSG00000134470		"""Interleukins and interleukin receptors"", ""CD molecules"""	5978	protein-coding gene	gene with protein product		601070				8530383	Standard	NM_002189		Approved	CD215, IL-15RA	uc021pmo.1	Q13261	OTTHUMG00000017612	ENST00000379977.3:c.494_495insTGATGGTATA	10.37:g.6002418_6002419insTATACCATCA	ENSP00000369312:p.Ile165fs	False	False		Somatic	0				IL15RA_ENST00000397250.2_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000397248.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000530685.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000525219.2_Frame_Shift_Ins_p.I129fs|IL15RA_ENST00000379971.1_Frame_Shift_Ins_p.I67fs|IL15RA_ENST00000379977.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000528354.1_Frame_Shift_Ins_p.I132fs|IL15RA_ENST00000397255.3_Frame_Shift_Ins_p.I165fs|IL15RA_ENST00000397251.3_Frame_Shift_Ins_p.I100fs				WXS	Illumina HiSeq	Phase_I	Q13261	I15RA_HUMAN			0	674_675	-			NA					B4E2C2|Q3B769|Q5JVA1|Q5JVA2|Q5JVA4|Q6B0J2|Q7LDR4|Q7Z609	Translation_Start_Site	INS	ENST00000379977.3	37		CCDS7074.1																																																																																				0.574	IL15RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046615.2	0	NM_172200, NM_002189		10:6002418
DHTKD1	55526	broad.mit.edu	37	10	12143173	12143179	+	Splice_Site	DEL	TTCTAGA	TTCTAGA	-			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	TTCTAGA	TTCTAGA	-	-	TTCTAGA	TTCTAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:12143173_12143179delTTCTAGA	ENST00000263035.4	+	10	1951_1957	c.1889_1895delTTCTAGA	c.(1888-1896)tttctagag>tg	p.FLE630fs		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	630					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CAGAAGGGGTTTCTAGAGGTGAGATGT	0.478																																						ENST00000263035.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44						c.(1888-1896)tttctagag>tg		dehydrogenase E1 and transketolase domain containing 1																																				SO:0001630	splice_region_variant	55526				glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	g.chr10:12143173_12143179delTTCTAGA	BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1896+1TTCTAGA>-	10.37:g.12143173_12143179delTTCTAGA		False	False		Somatic	1					p.FLE630fs	NM_018706.5	NP_061176.3	WXS	Illumina HiSeq	Phase_I	Q96HY7	DHTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(52;0.188)		10	1951_1957	+		Renal(717;0.228)	630					Q68CU5|Q9BUM8|Q9HCE2	Splice_Site	DEL	ENST00000263035.4	37	c.1889_1895delTTCTAGA	CCDS7087.1																																																																																				0.478	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046777.1	0	NM_018706	Frame_Shift_Del	10:12143173
CUBN	8029	broad.mit.edu	37	10	17107592	17107593	+	Frame_Shift_Ins	INS	-	-	AGCTATA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:17107592_17107593insAGCTATA	ENST00000377833.4	-	22	3118_3119	c.3053_3054insTATAGCT	c.(3052-3054)aacfs	p.-1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GCATCAATGAGTTACCACTGCT	0.411																																						ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3052-3054)aacfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107592_17107593insAGCTATA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3053_3054insTATAGCT	10.37:g.17107592_17107593insAGCTATA	ENSP00000367064:p.Asn1018fs	False	False		Somatic	0					p.-1018fs	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			22	3118_3119	-			NA					B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.3053_3054insTATAGCT	CCDS7113.1																																																																																				0.411	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:17107592
CUBN	8029	broad.mit.edu	37	10	17107594	17107595	+	Frame_Shift_Ins	INS	-	-	TAGAATA			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:17107594_17107595insTAGAATA	ENST00000377833.4	-	22	3116_3117	c.3051_3052insTATTCTA	c.(3049-3054)ggtaacfs	p.N1018fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1018	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAATGAGTTACCACTGCTTG	0.416																																						ENST00000377833.4		NA																	0				breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241						c.(3049-3054)ggtaacfs		cubilin (intrinsic factor-cobalamin receptor)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)																																			SO:0001589	frameshift_variant	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17107594_17107595insTAGAATA	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.3051_3052insTATTCTA	10.37:g.17107594_17107595insTAGAATA	ENSP00000367064:p.Asn1018fs	False	False		Somatic	0					p.N1018fs	NM_001081.3	NP_001072.2	WXS	Illumina HiSeq	Phase_I	O60494	CUBN_HUMAN			22	3116_3117	-			1018			CUB 5.		B0YIZ4|Q5VTA6|Q96RU9	Frame_Shift_Ins	INS	ENST00000377833.4	37	c.3051_3052insTATTCTA	CCDS7113.1																																																																																				0.416	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	0	NM_001081		10:17107594
SDCBP	6386	broad.mit.edu	37	8	59490601	59490601	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59490601G>T	ENST00000260130.4	+	6	562	c.412G>T	c.(412-414)Gtt>Ttt	p.V138F	SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000523483.1_Missense_Mutation_p.V158F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	138	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGGTATATTTGTTCAGCTAGT	0.378																																						ENST00000523483.1		NA																	0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(472-474)Gtt>Ttt		syndecan binding protein (syntenin)							75.0	75.0	75.0					8																	59490601		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59490601G>T	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.412G>T	8.37:g.59490601G>T	ENSP00000260130:p.Val138Phe	True	False		Somatic	0				SDCBP_ENST00000413219.2_Missense_Mutation_p.V138F|SDCBP_ENST00000422546.2_Missense_Mutation_p.V137F|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000424270.2_Missense_Mutation_p.V132F|SDCBP_ENST00000447182.2_Missense_Mutation_p.V137F|SDCBP_ENST00000447267.2_Missense_Mutation_p.V84F|SDCBP_ENST00000260130.4_Missense_Mutation_p.V138F	p.V158F			WXS	Illumina HiSeq	Phase_I	O00560	SDCB1_HUMAN			7	1986	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	138			PDZ 1.		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.472G>T	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433603	0.83776	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000447267	T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;0.27;0.74	5.66	4.79	0.61399	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	D	0.93239	0.7846	H	0.97340	3.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.995	D	0.95466	0.8547	9	.	.	.	-24.174	14.8863	0.70572	0.069:0.0:0.931:0.0	.	158;132;138	G5EA09;O00560-3;O00560	.;.;SDCB1_HUMAN	F	138;137;137;138;132;158;84	ENSP00000260130:V138F;ENSP00000391687:V137F;ENSP00000409288:V137F;ENSP00000411771:V138F;ENSP00000395351:V132F;ENSP00000428184:V158F;ENSP00000397820:V84F	.	V	+	1	0	SDCBP	59653155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.627000	0.67784	1.535000	0.49220	0.655000	0.94253	GTT		0.378	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	0	NM_005625		8:59490601
PIK3R4	30849	broad.mit.edu	37	3	130452457	130452457	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:130452457T>A	ENST00000356763.3	-	4	1942	c.1385A>T	c.(1384-1386)tAc>tTc	p.Y462F		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	462					innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TGGCAGAATGTATTCCGGATA	0.438																																						ENST00000356763.3		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						c.(1384-1386)tAc>tTc		phosphoinositide-3-kinase, regulatory subunit 4							82.0	77.0	78.0					3																	130452457		2203	4300	6503	SO:0001583	missense	30849				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr3:130452457T>A	Y08991	CCDS3067.1	3q22.1	2013-01-10	2008-02-04		ENSG00000196455	ENSG00000196455		"""WD repeat domain containing"""	8982	protein-coding gene	gene with protein product		602610				8999962	Standard	NM_014602		Approved	VPS15, p150	uc003enj.3	Q99570	OTTHUMG00000159645	ENST00000356763.3:c.1385A>T	3.37:g.130452457T>A	ENSP00000349205:p.Tyr462Phe	False	False		Somatic	0					p.Y462F	NM_014602.2	NP_055417.1	WXS	Illumina HiSeq	Phase_I	Q99570	PI3R4_HUMAN			4	1942	-			462					Q2TBF4	Missense_Mutation	SNP	ENST00000356763.3	37	c.1385A>T	CCDS3067.1	.	.	.	.	.	.	.	.	.	.	T	29.9	5.042519	0.93685	.	.	ENSG00000196455	ENST00000356763	T	0.48836	0.8	6.07	6.07	0.98685	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.70422	0.3222	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72564	-0.4255	10	0.54805	T	0.06	-22.6507	16.6288	0.85011	0.0:0.0:0.0:1.0	.	462	Q99570	PI3R4_HUMAN	F	462	ENSP00000349205:Y462F	ENSP00000349205:Y462F	Y	-	2	0	PIK3R4	131935147	1.000000	0.71417	0.975000	0.42487	0.961000	0.63080	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	TAC		0.438	PIK3R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356668.1	0	NM_014602		3:130452457
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:7579311C>T	ENST00000269305.4	-	4	565		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCAACTGACCGTGCAAGTC	0.532		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		38	Unknown(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	lung(12)|breast(5)|upper_aerodigestive_tract(4)|bone(4)|ovary(3)|large_intestine(2)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|urinary_tract(1)|oesophagus(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS951538	TP53	S		c.e4+1	Other conserved DNA damage response genes	tumor protein p53							66.0	61.0	63.0					17																	7579311		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579311C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.375+1G>A	17.37:g.7579311C>T		False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	508	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	NA					Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.015182	0.75161	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6586	0.68852	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520036	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.208000	0.72165	2.403000	0.81681	0.655000	0.94253	.		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546	Intron	17:7579311
SRCAP	10847	broad.mit.edu	37	16	30749733	30749733	+	Missense_Mutation	SNP	C	C	T	rs374720304		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:30749733C>T	ENST00000262518.4	+	34	8757	c.8372C>T	c.(8371-8373)cCg>cTg	p.P2791L	RP11-2C24.4_ENST00000483578.1_lincRNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2791	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.P2791L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCGGGAAGCCCGTCTGTCCGC	0.662																																						ENST00000262518.4		NA																	1	Substitution - Missense(1)	p.P2791L(1)	lung(1)	NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(8371-8373)cCg>cTg		Snf2-related CREBBP activator protein		C	LEU/PRO	1,4393	2.1+/-5.4	0,1,2196	55.0	62.0	60.0		8372	4.1	1.0	16		60	0,8600		0,0,4300	no	missense	SRCAP	NM_006662.2	98	0,1,6496	TT,TC,CC		0.0,0.0228,0.0077	probably-damaging	2791/3231	30749733	1,12993	2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30749733C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.8372C>T	16.37:g.30749733C>T	ENSP00000262518:p.Pro2791Leu	True	False		Somatic	0				SRCAP_ENST00000344771.4_Missense_Mutation_p.P2633L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2729L	p.P2791L	NM_006662.2	NP_006653.2	WXS	Illumina HiSeq	Phase_I	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		34	8757	+			2791			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.8372C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	1.783	-0.481343	0.04383	2.28E-4	0.0	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91295	-2.8;-2.82;-2.81	5.04	4.07	0.47477	.	0.266926	0.27122	N	0.020822	T	0.75087	0.3802	N	0.08118	0	0.34513	D	0.707273	P;P	0.39624	0.681;0.553	B;B	0.25140	0.058;0.026	T	0.81141	-0.1068	10	0.59425	D	0.04	-8.0891	8.3108	0.32071	0.1775:0.651:0.1714:0.0	.	2729;2791	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	L	2791;2729;2633	ENSP00000262518:P2791L;ENSP00000378499:P2729L;ENSP00000343042:P2633L	ENSP00000262518:P2791L	P	+	2	0	SRCAP	30657234	0.061000	0.20836	0.988000	0.46212	0.069000	0.16628	0.750000	0.26334	1.316000	0.45131	0.591000	0.81541	CCG		0.662	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	0	NM_006662		16:30749733
FAT4	79633	broad.mit.edu	37	4	126412333	126412333	+	Missense_Mutation	SNP	G	G	A	rs138173652	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr4:126412333G>A	ENST00000394329.3	+	17	14369	c.14356G>A	c.(14356-14358)Gga>Aga	p.G4786R	FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4786	Necessary and sufficient for interaction with MPDZ. {ECO:0000250}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCTCCAGTCGGACTTTCTAT	0.527													G|||	2	0.000399361	0.0	0.0	5008	,	,		17908	0.0		0.002	False		,,,				2504	0.0					ENST00000394329.3		NA																	0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(14356-14358)Gga>Aga		FAT atypical cadherin 4		G	ARG/GLY	0,4406		0,0,2203	54.0	57.0	56.0		14356	4.9	0.1	4	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT4	NM_024582.4	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	4786/4982	126412333	1,13005	2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126412333G>A	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.14356G>A	4.37:g.126412333G>A	ENSP00000377862:p.Gly4786Arg	False	False		Somatic	0				FAT4_ENST00000335110.5_Missense_Mutation_p.G3027R	p.G4786R	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			17	14369	+			4786					A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.14356G>A	CCDS3732.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	14.72	2.620909	0.46736	0.0	1.16E-4	ENSG00000196159	ENST00000394329;ENST00000335110	D;D	0.89746	-2.36;-2.56	4.87	4.87	0.63330	.	0.000000	0.33959	U	0.004384	D	0.94125	0.8116	M	0.75777	2.31	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.94900	0.8055	10	0.87932	D	0	.	17.0284	0.86454	0.0:0.0:1.0:0.0	.	3027;4786;4785	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	R	4786;3027	ENSP00000377862:G4786R;ENSP00000335169:G3027R	ENSP00000335169:G3027R	G	+	1	0	FAT4	126631783	1.000000	0.71417	0.095000	0.20976	0.024000	0.10985	9.135000	0.94478	2.253000	0.74438	0.491000	0.48974	GGA		0.527	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126412333
NBEA	26960	broad.mit.edu	37	13	35883716	35883716	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr13:35883716A>G	ENST00000400445.3	+	36	6424	c.5890A>G	c.(5890-5892)Atc>Gtc	p.I1964V	NBEA_ENST00000540320.1_Missense_Mutation_p.I1964V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1964					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TATTGAGCTCATCAATGAAGG	0.343																																						ENST00000540320.1		NA																	0				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108						c.(5890-5892)Atc>Gtc		neurobeachin							71.0	65.0	67.0					13																	35883716		1873	4123	5996	SO:0001583	missense	26960					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	g.chr13:35883716A>G	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.5890A>G	13.37:g.35883716A>G	ENSP00000383295:p.Ile1964Val	False	False		Somatic	0				NBEA_ENST00000400445.3_Missense_Mutation_p.I1964V|NBEA_ENST00000379939.2_Missense_Mutation_p.I1961V|NBEA_ENST00000310336.4_Missense_Mutation_p.I1964V	p.I1964V			WXS	Illumina HiSeq	Phase_I	Q8NFP9	NBEA_HUMAN		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)	36	6424	+		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)	1964					B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	37	c.5890A>G	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	6.507	0.461677	0.12342	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.46063	0.89;0.88;0.88;0.89	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.20820	0.0501	N	0.16130	0.375	0.80722	D	1	P;B	0.35612	0.512;0.008	B;B	0.24541	0.054;0.016	T	0.12863	-1.0531	10	0.05959	T	0.93	.	15.3088	0.74014	1.0:0.0:0.0:0.0	.	1964;1961	Q8NFP9;Q5T321	NBEA_HUMAN;.	V	1964;1964;1961;1964;591	ENSP00000440951:I1964V;ENSP00000383295:I1964V;ENSP00000369271:I1961V;ENSP00000308534:I1964V	ENSP00000308534:I1964V	I	+	1	0	NBEA	34781716	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.730000	0.91510	2.029000	0.59856	0.533000	0.62120	ATC		0.343	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_015678		13:35883716
MIDN	90007	broad.mit.edu	37	19	1257115	1257115	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:1257115C>A	ENST00000591446.2	+	7	1660	c.1251C>A	c.(1249-1251)caC>caA	p.H417Q	CIRBP_ENST00000588030.1_5'Flank|MIDN_ENST00000300952.2_Missense_Mutation_p.H417Q			Q504T8	MIDN_HUMAN	midnolin	417						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCGTACCACTGGTCACCCA	0.706																																						ENST00000300952.2		NA																	0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1249-1251)caC>caA		midnolin							15.0	20.0	18.0					19																	1257115		2198	4280	6478	SO:0001583	missense	90007					nucleolus		g.chr19:1257115C>A	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1251C>A	19.37:g.1257115C>A	ENSP00000467679:p.His417Gln	False	False		Somatic	0				MIDN_ENST00000591446.2_Missense_Mutation_p.H417Q	p.H417Q	NM_177401.4	NP_796375.3	WXS	Illumina HiSeq	Phase_I	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	8	1766	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	417					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1251C>A	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	c	10.84	1.464720	0.26335	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.44	2.35	0.29111	.	0.065017	0.64402	U	0.000010	T	0.33673	0.0871	N	0.21448	0.665	0.39096	D	0.961197	B	0.30824	0.296	B	0.31442	0.13	T	0.25222	-1.0138	9	0.40728	T	0.16	-22.3707	7.0601	0.25121	0.0:0.774:0.0:0.226	.	417	Q504T8	MIDN_HUMAN	Q	417	.	ENSP00000300952:H417Q	H	+	3	2	MIDN	1208115	1.000000	0.71417	1.000000	0.80357	0.352000	0.29268	1.267000	0.33050	1.756000	0.51951	0.486000	0.48141	CAC		0.706	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2	0			19:1257115
ZNRF4	148066	broad.mit.edu	37	19	5455852	5455852	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:5455852C>T	ENST00000222033.4	+	1	427	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	117						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		GCGGATCTGCCGGCGCTGTTC	0.672																																						ENST00000222033.4		NA																	0				NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(349-351)cCg>cTg		zinc and ring finger 4							49.0	58.0	55.0					19																	5455852		2101	4206	6307	SO:0001583	missense	148066					integral to membrane	zinc ion binding	g.chr19:5455852C>T	AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.350C>T	19.37:g.5455852C>T	ENSP00000222033:p.Pro117Leu	False	False		Somatic	0					p.P117L	NM_181710.3	NP_859061.3	WXS	Illumina HiSeq	Phase_I	Q8WWF5	ZNRF4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)	1	427	+			117					A8K886|O75866	Missense_Mutation	SNP	ENST00000222033.4	37	c.350C>T	CCDS42475.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346448	0.41599	.	.	ENSG00000105428	ENST00000222033	T	0.05996	3.36	4.55	4.55	0.56014	.	0.000000	0.85682	U	0.000000	T	0.25680	0.0625	M	0.81682	2.555	0.52099	D	0.999943	D	0.89917	1.0	D	0.72625	0.978	T	0.02059	-1.1221	10	0.87932	D	0	.	13.9999	0.64427	0.0:1.0:0.0:0.0	.	117	Q8WWF5	ZNRF4_HUMAN	L	117	ENSP00000222033:P117L	ENSP00000222033:P117L	P	+	2	0	ZNRF4	5406852	0.939000	0.31865	0.297000	0.24988	0.033000	0.12548	4.439000	0.59968	2.082000	0.62665	0.491000	0.48974	CCG		0.672	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450924.1	0	NM_181710		19:5455852
RPS11	6205	broad.mit.edu	37	19	50000840	50000840	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:50000840C>T	ENST00000270625.2	+	3	294	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	hsa-mir-150_ENST00000602157.1_5'Flank|RPS11_ENST00000596873.1_Missense_Mutation_p.R71W|RPS11_ENST00000594493.1_5'UTR|SNORD35B_ENST00000363660.1_RNA|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	71					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)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		CATTCGAGGGCGGATCCTCTC	0.537																																						ENST00000270625.2		NA																	0				kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7						c.(211-213)Cgg>Tgg		ribosomal protein S11							81.0	76.0	78.0					19																	50000840		2203	4300	6503	SO:0001583	missense	6205				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome	g.chr19:50000840C>T	AB007152	CCDS12769.1	19q13.3	2011-08-03			ENSG00000142534	ENSG00000142534		"""S ribosomal proteins"""	10384	protein-coding gene	gene with protein product	"""40S ribosomal protein S11"""	180471				1577483, 9582194	Standard	NM_001015		Approved	S11	uc002pob.2	P62280		ENST00000270625.2:c.211C>T	19.37:g.50000840C>T	ENSP00000270625:p.Arg71Trp	True	False		Somatic	0				RPS11_ENST00000596873.1_Missense_Mutation_p.R71W|RPS11_ENST00000594493.1_5'UTR|RPS11_ENST00000599561.1_Missense_Mutation_p.A36V	p.R71W	NM_001015.4	NP_001006.1	WXS	Illumina HiSeq	Phase_I	P62280	RS11_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)	3	294	+		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)	71					B2R4F5|P04643|Q498Y6|Q6IRY0	Missense_Mutation	SNP	ENST00000270625.2	37	c.211C>T	CCDS12769.1	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701530	0.48307	.	.	ENSG00000142534	ENST00000270625	.	.	.	5.12	2.89	0.33648	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.059690	0.64402	N	0.000002	T	0.54498	0.1862	M	0.67517	2.055	0.58432	D	0.999999	B	0.16802	0.019	B	0.08055	0.003	T	0.50725	-0.8794	8	.	.	.	-23.5769	8.2881	0.31941	0.1534:0.7625:0.0:0.0842	.	71	P62280	RS11_HUMAN	W	71	.	.	R	+	1	2	RPS11	54692652	0.995000	0.38212	0.965000	0.40720	0.743000	0.42351	3.032000	0.49736	1.164000	0.42652	0.561000	0.74099	CGG		0.537	RPS11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465288.1	0	NM_001015		19:50000840
COLEC11	78989	broad.mit.edu	37	2	3691377	3691377	+	Missense_Mutation	SNP	G	G	A	rs368720161		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:3691377G>A	ENST00000349077.4	+	7	588	c.485G>A	c.(484-486)cGc>cAc	p.R162H	COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000403096.3_Missense_Mutation_p.R136H|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H|COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	162	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GAGGAGAAGCGCTACGCGGAC	0.637																																						ENST00000403096.3		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22						c.(406-408)cGc>cAc		collectin sub-family member 11		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	44.0	45.0	45.0		485,476	3.4	0.1	2		45	1,8595	1.2+/-3.3	0,1,4297	no	missense,missense	COLEC11	NM_024027.3,NM_199235.1	29,29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	162/272,159/269	3691377	1,13001	2203	4298	6501	SO:0001583	missense	78989					collagen	mannose binding	g.chr2:3691377G>A	BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.485G>A	2.37:g.3691377G>A	ENSP00000339168:p.Arg162His	False	False		Somatic	0				COLEC11_ENST00000236693.7_Missense_Mutation_p.R159H|COLEC11_ENST00000349077.4_Missense_Mutation_p.R162H|COLEC11_ENST00000382062.2_Missense_Mutation_p.R138H|COLEC11_ENST00000404205.1_Missense_Mutation_p.R88H|COLEC11_ENST00000402922.1_Missense_Mutation_p.R112H|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.R176H|COLEC11_ENST00000402794.1_Missense_Mutation_p.R112H	p.R136H	NM_001255986.1	NP_001242915.1	WXS	Illumina HiSeq	Phase_I	Q9BWP8	COL11_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.127)	6	898	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		162					A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Missense_Mutation	SNP	ENST00000349077.4	37	c.407G>A	CCDS1649.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781246	0.31502	0.0	1.16E-4	ENSG00000118004	ENST00000382062;ENST00000236693;ENST00000349077;ENST00000418971;ENST00000403096;ENST00000402794;ENST00000404205;ENST00000402922	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	5.2	3.38	0.38709	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.147737	0.56097	D	0.000035	T	0.27313	0.0670	L	0.45352	1.415	0.29046	N	0.884807	D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;0.997;1.0;0.998;1.0;1.0;0.999	P;D;D;P;D;P;D;D;D	0.71184	0.866;0.949;0.972;0.823;0.972;0.828;0.949;0.956;0.92	T	0.06197	-1.0840	10	0.59425	D	0.04	-22.5104	5.7615	0.18203	0.1596:0.0:0.6835:0.157	.	88;112;112;136;114;138;138;162;159	Q9BWP8-8;Q9BWP8-7;Q9BWP8-6;Q9BWP8-4;Q9BWP8-5;Q9BWP8-3;Q9BWP8-2;Q9BWP8;Q9BWP8-9	.;.;.;.;.;.;.;COL11_HUMAN;.	H	138;159;162;176;136;112;88;112	ENSP00000371494:R138H;ENSP00000236693:R159H;ENSP00000339168:R162H;ENSP00000411770:R176H;ENSP00000385130:R136H;ENSP00000384882:R112H;ENSP00000385827:R88H;ENSP00000385653:R112H	ENSP00000236693:R159H	R	+	2	0	COLEC11	3669252	0.999000	0.42202	0.087000	0.20705	0.002000	0.02628	3.349000	0.52217	0.564000	0.29238	-0.518000	0.04402	CGC		0.637	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206666.1	0	NM_024027		2:3691377
NLGN3	54413	broad.mit.edu	37	X	70367880	70367880	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:70367880C>T	ENST00000358741.3	+	2	584	c.281C>T	c.(280-282)tCg>tTg	p.S94L	NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L|NLGN3_ENST00000374051.3_Missense_Mutation_p.S94L	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	94					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCCTGGTCGGGCATCCGG	0.632																																					Esophageal Squamous(103;760 1488 16849 22250 40351)	ENST00000374051.3		NA																	0				biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37						c.(280-282)tCg>tTg		neuroligin 3							65.0	49.0	55.0					X																	70367880		2203	4300	6503	SO:0001583	missense	54413				neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity	g.chrX:70367880C>T	AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.281C>T	X.37:g.70367880C>T	ENSP00000351591:p.Ser94Leu	True	False		Somatic	0				NLGN3_ENST00000358741.3_Missense_Mutation_p.S94L|NLGN3_ENST00000536169.1_Missense_Mutation_p.S94L	p.S94L	NM_018977.3	NP_061850.2	WXS	Illumina HiSeq	Phase_I	Q9NZ94	NLGN3_HUMAN			2	603	+	Renal(35;0.156)		94					B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Missense_Mutation	SNP	ENST00000358741.3	37	c.281C>T	CCDS55441.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609855	0.46527	.	.	ENSG00000196338	ENST00000536169;ENST00000374051;ENST00000395855;ENST00000358741	T;T;T;T	0.60299	0.2;0.2;0.2;0.2	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.58075	0.2097	M	0.70108	2.13	0.51767	D	0.999932	P;P;P	0.49358	0.546;0.923;0.756	B;B;B	0.40066	0.159;0.318;0.216	T	0.68720	-0.5334	10	0.66056	D	0.02	.	16.4169	0.83745	0.0:1.0:0.0:0.0	.	94;94;94	D3DVV1;B7Z5Y1;Q9NZ94-2	.;.;.	L	94	ENSP00000445298:S94L;ENSP00000363163:S94L;ENSP00000379196:S94L;ENSP00000351591:S94L	ENSP00000351591:S94L	S	+	2	0	NLGN3	70284605	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.320000	0.79064	2.044000	0.60594	0.436000	0.28706	TCG		0.632	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057121.1	0	NM_018977		X:70367880
SPTBN2	6712	broad.mit.edu	37	11	66468444	66468444	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:66468444C>G	ENST00000533211.1	-	17	3457	c.3126G>C	c.(3124-3126)gaG>gaC	p.E1042D	SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D|SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1042					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CGGTCTGCACCTCTCTCAGCC	0.692																																						ENST00000533211.1		NA																	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(3124-3126)gaG>gaC		spectrin, beta, non-erythrocytic 2							24.0	27.0	26.0					11																	66468444		2196	4289	6485	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66468444C>G	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3126G>C	11.37:g.66468444C>G	ENSP00000432568:p.Glu1042Asp	True	False		Somatic	0				SPTBN2_ENST00000309996.2_Missense_Mutation_p.E1042D|SPTBN2_ENST00000529997.1_Missense_Mutation_p.E1042D	p.E1042D			WXS	Illumina HiSeq	Phase_I	O15020	SPTN2_HUMAN			17	3457	-			1042					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.3126G>C	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	9.744	1.165688	0.21538	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35048	1.33;1.33;1.33	4.7	3.79	0.43588	.	0.000000	0.85682	D	0.000000	T	0.27832	0.0685	L	0.49350	1.555	0.44562	D	0.997521	B	0.18013	0.025	B	0.20384	0.029	T	0.11991	-1.0565	10	0.33940	T	0.23	.	4.1851	0.10393	0.1848:0.6269:0.0:0.1883	.	1042	O15020	SPTN2_HUMAN	D	1042	ENSP00000432568:E1042D;ENSP00000311489:E1042D;ENSP00000433593:E1042D	ENSP00000311489:E1042D	E	-	3	2	SPTBN2	66225020	0.922000	0.31269	0.995000	0.50966	0.397000	0.30659	0.092000	0.15066	1.212000	0.43366	-0.339000	0.08088	GAG		0.692	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	0	NM_006946		11:66468444
IGSF10	285313	broad.mit.edu	37	3	151164707	151164707	+	Missense_Mutation	SNP	C	C	T	rs35114212	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:151164707C>T	ENST00000282466.3	-	4	3061	c.3062G>A	c.(3061-3063)cGg>cAg	p.R1021Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1021					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)		p.R1021Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGATAATCCGCCCCCTTCC	0.473																																						ENST00000282466.3		NA																	1	Substitution - Missense(1)	p.R1021Q(1)	large_intestine(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(3061-3063)cGg>cAg		immunoglobulin superfamily, member 10		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	74.0	77.0	76.0		3062	3.6	0.0	3	dbSNP_126	76	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	1021/2624	151164707	2,13004	2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164707C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.3062G>A	3.37:g.151164707C>T	ENSP00000282466:p.Arg1021Gln	False	False		Somatic	0					p.R1021Q	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina HiSeq	Phase_I	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	3061	-			1021					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.3062G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.358254	0.41801	2.27E-4	1.16E-4	ENSG00000152580	ENST00000282466	T	0.75704	-0.96	5.46	3.6	0.41247	.	0.000000	0.42821	D	0.000651	T	0.56558	0.1993	L	0.36672	1.1	0.09310	N	1	P	0.41159	0.74	B	0.26969	0.075	T	0.53063	-0.8491	10	0.66056	D	0.02	.	8.8832	0.35387	0.0:0.7369:0.1239:0.1392	rs35114212	1021	Q6WRI0	IGS10_HUMAN	Q	1021	ENSP00000282466:R1021Q	ENSP00000282466:R1021Q	R	-	2	0	IGSF10	152647397	0.822000	0.29219	0.014000	0.15608	0.012000	0.07955	2.017000	0.40981	0.623000	0.30267	0.591000	0.81541	CGG		0.473	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	0	NM_178822		3:151164707
ELMOD1	55531	broad.mit.edu	37	11	107535878	107535878	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:107535878G>A	ENST00000265840.7	+	12	1225	c.960G>A	c.(958-960)gcG>gcA	p.A320A	ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	320					phagocytosis (GO:0006909)|positive regulation of GTPase activity (GO:0043547)	cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CAGACATGGCGCTGTGCCCAC	0.478																																						ENST00000265840.7		NA																	0				endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19						c.(958-960)gcG>gcA		ELMO/CED-12 domain containing 1							131.0	139.0	136.0					11																	107535878		2062	4204	6266	SO:0001819	synonymous_variant	55531				phagocytosis	cytoskeleton	GTPase activator activity	g.chr11:107535878G>A	AL359601	CCDS44723.1, CCDS44724.1	11q23.1	2012-10-15	2006-01-20		ENSG00000110675	ENSG00000110675			25334	protein-coding gene	gene with protein product		615456	"""ELMO domain containing 1"""			12477932	Standard	NM_018712		Approved	DKFZp547C176	uc010rvs.2	Q8N336	OTTHUMG00000166361	ENST00000265840.7:c.960G>A	11.37:g.107535878G>A		False	False		Somatic	0				ELMOD1_ENST00000531234.1_Silent_p.A314A|ELMOD1_ENST00000443271.2_Silent_p.A312A	p.A320A	NM_018712.3	NP_061182.3	WXS	Illumina HiSeq	Phase_I	Q8N336	ELMD1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)	12	1225	+		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)	320					B4E167|G5E9S5|Q9NPW3	Silent	SNP	ENST00000265840.7	37	c.960G>A	CCDS44723.1																																																																																				0.478	ELMOD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389406.1	0	NM_018712		11:107535878
MYH6	4624	broad.mit.edu	37	14	23870014	23870014	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:23870014G>C	ENST00000356287.3	-	12	1343	c.1314C>G	c.(1312-1314)aaC>aaG	p.N438K	MYH6_ENST00000405093.3_Missense_Mutation_p.N438K			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	438	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACCATCCAGTTGAACATCT	0.562																																						ENST00000405093.3		NA																	0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1312-1314)aaC>aaG		myosin, heavy chain 6, cardiac muscle, alpha							165.0	127.0	140.0					14																	23870014		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23870014G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1314C>G	14.37:g.23870014G>C	ENSP00000348634:p.Asn438Lys	False	False		Somatic	0				MYH6_ENST00000356287.3_Missense_Mutation_p.N438K	p.N438K	NM_002471.3	NP_002462.2	WXS	Illumina HiSeq	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	13	1384	-	all_cancers(95;2.54e-05)		438			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1314C>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	3.739	-0.053937	0.07362	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.86956	-2.19;-2.19	4.03	4.03	0.46877	Myosin head, motor domain (2);	.	.	.	.	T	0.71762	0.3378	N	0.02876	-0.465	0.38224	D	0.940852	B;B	0.30361	0.277;0.277	B;B	0.39339	0.297;0.297	T	0.69702	-0.5074	9	0.02654	T	1	.	12.1496	0.54042	0.0:0.3105:0.6895:0.0	.	438;438	D9YZU2;P13533	.;MYH6_HUMAN	K	438	ENSP00000386041:N438K;ENSP00000348634:N438K	ENSP00000348634:N438K	N	-	3	2	MYH6	22939854	0.001000	0.12720	1.000000	0.80357	0.995000	0.86356	-0.099000	0.11007	1.978000	0.57642	0.580000	0.79431	AAC		0.562	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	0			14:23870014
IGDCC4	57722	broad.mit.edu	37	15	65678310	65678310	+	Silent	SNP	T	T	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:65678310T>G	ENST00000352385.2	-	18	3248	c.3039A>C	c.(3037-3039)ccA>ccC	p.P1013P	IGDCC4_ENST00000558048.1_5'Flank	NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	1013						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CATGGGCAGCTGGGGGGCTGG	0.667											OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000352385.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						c.(3037-3039)ccA>ccC		immunoglobulin superfamily, DCC subclass, member 4							10.0	12.0	11.0					15																	65678310		2109	4164	6273	SO:0001819	synonymous_variant	57722					integral to membrane|plasma membrane		g.chr15:65678310T>G		CCDS10206.1	15q22.31	2013-02-11			ENSG00000103742	ENSG00000103742		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13770	protein-coding gene	gene with protein product	"""likely ortholog of mouse neighbor of Punc E11"""						Standard	NM_020962		Approved	NOPE, LOC57722	uc002aou.1	Q8TDY8	OTTHUMG00000133136	ENST00000352385.2:c.3039A>C	15.37:g.65678310T>G		True	False		Somatic	0	OREG0023195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1086		p.P1013P	NM_020962.1	NP_066013.1	WXS	Illumina HiSeq	Phase_I	Q8TDY8	IGDC4_HUMAN			18	3248	-			1013					Q9HCE4	Silent	SNP	ENST00000352385.2	37	c.3039A>C	CCDS10206.1																																																																																				0.667	IGDCC4-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256825.2	0	NM_020962		15:65678310
KCNK3	3777	broad.mit.edu	37	2	26951301	26951301	+	Silent	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:26951301C>T	ENST00000302909.3	+	2	1175	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_002246.2	NP_002237.1	O14649	KCNK3_HUMAN	potassium channel, subfamily K, member 3	350					brain development (GO:0007420)|cellular response to hypoxia (GO:0071456)|cellular response to zinc ion (GO:0071294)|cochlea development (GO:0090102)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ion channel activity (GO:0005216)|open rectifier potassium channel activity (GO:0005252)|potassium channel activity (GO:0005267)|potassium ion leak channel activity (GO:0022841)|S100 protein binding (GO:0044548)			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Doxapram(DB00561)|Halothane(DB01159)	CGGGAGGGGGCGGCCGCTACA	0.701																																					GBM(80;1457 1631 27100 45946)	ENST00000302909.3		NA																	0				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14						c.(1048-1050)ggC>ggT		potassium channel, subfamily K, member 3							12.0	11.0	11.0					2																	26951301		2157	4232	6389	SO:0001819	synonymous_variant	3777				synaptic transmission	integral to plasma membrane		g.chr2:26951301C>T	AF006823	CCDS1727.1	2p23	2012-03-07			ENSG00000171303	ENSG00000171303		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6278	protein-coding gene	gene with protein product		603220				9312005, 9721223, 16382106	Standard	NM_002246		Approved	K2p3.1, TASK, TASK-1	uc002rhn.2	O14649	OTTHUMG00000125530	ENST00000302909.3:c.1050C>T	2.37:g.26951301C>T		True	False		Somatic	0					p.G350G	NM_002246.2	NP_002237.1	WXS	Illumina HiSeq	Phase_I	O14649	KCNK3_HUMAN			2	1175	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		350					Q53SU2	Silent	SNP	ENST00000302909.3	37	c.1050C>T	CCDS1727.1																																																																																				0.701	KCNK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246861.2	0	NM_002246		2:26951301
BIN1	274	broad.mit.edu	37	2	127806138	127806138	+	Silent	SNP	G	G	A	rs578196295		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:127806138G>A	ENST00000316724.5	-	19	2157	c.1746C>T	c.(1744-1746)ggC>ggT	p.G582G	BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000466111.1_5'Flank|BIN1_ENST00000351659.3_Silent_p.G495G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000346226.3_Silent_p.G507G	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	582	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)	p.G582G(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CGGGGAAGACGCCACGGCACT	0.622																																						ENST00000316724.5		NA																	1	Substitution - coding silent(1)	p.G582G(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24						c.(1744-1746)ggC>ggT		bridging integrator 1							95.0	91.0	92.0					2																	127806138		2203	4300	6503	SO:0001819	synonymous_variant	274				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus		g.chr2:127806138G>A	U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1746C>T	2.37:g.127806138G>A		False	False		Somatic	0				BIN1_ENST00000376113.2_Silent_p.G413G|BIN1_ENST00000348750.4_Silent_p.G398G|BIN1_ENST00000346226.3_Silent_p.G507G|BIN1_ENST00000393040.3_Silent_p.G471G|BIN1_ENST00000259238.4_Silent_p.G486G|BIN1_ENST00000409400.1_Silent_p.G428G|BIN1_ENST00000352848.3_Silent_p.G443G|BIN1_ENST00000393041.3_Silent_p.G464G|BIN1_ENST00000357970.3_Silent_p.G539G|BIN1_ENST00000351659.3_Silent_p.G495G	p.G582G	NM_139343.2	NP_647593.1	WXS	Illumina HiSeq	Phase_I	O00499	BIN1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	19	2157	-	Colorectal(110;0.0831)		582			SH3.		O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	c.1746C>T	CCDS2138.1																																																																																				0.622	BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	0	NM_139343		2:127806138
ZNF653	115950	broad.mit.edu	37	19	11596575	11596575	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:11596575T>C	ENST00000293771.5	-	7	1602	c.1466A>G	c.(1465-1467)aAt>aGt	p.N489S	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	489					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(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						ATGCACAAGATTGACGTGGTT	0.562																																					Pancreas(83;980 1446 4542 6441 43352)	ENST00000293771.5		NA																	0				endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						c.(1465-1467)aAt>aGt		zinc finger protein 653							199.0	169.0	179.0					19																	11596575		2203	4300	6503	SO:0001583	missense	115950				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11596575T>C	AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.1466A>G	19.37:g.11596575T>C	ENSP00000293771:p.Asn489Ser	False	False		Somatic	0				CTC-398G3.6_ENST00000585656.1_Intron	p.N489S	NM_138783.3	NP_620138.2	WXS	Illumina HiSeq	Phase_I	Q96CK0	ZN653_HUMAN			7	1602	-			489					Q96AS7	Missense_Mutation	SNP	ENST00000293771.5	37	c.1466A>G	CCDS12261.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.348165	0.82132	.	.	ENSG00000161914	ENST00000293771	T	0.27557	1.66	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.51261	0.1664	L	0.59436	1.845	0.58432	D	0.999997	D	0.69078	0.997	D	0.75020	0.985	T	0.53457	-0.8436	10	0.72032	D	0.01	-65.4624	14.4764	0.67548	0.0:0.0:0.0:1.0	.	489	Q96CK0	ZN653_HUMAN	S	489	ENSP00000293771:N489S	ENSP00000293771:N489S	N	-	2	0	ZNF653	11457575	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.257000	0.78362	2.135000	0.66039	0.459000	0.35465	AAT		0.562	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458836.2	0	NM_138783		19:11596575
RBM10	8241	broad.mit.edu	37	X	47038526	47038526	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:47038526C>T	ENST00000377604.3	+	8	1430	c.688C>T	c.(688-690)Cga>Tga	p.R230*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*	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	230					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						CTTCAAACGCCGAGAGAAGTG	0.597																																					Melanoma(171;120 2705 19495 39241)	ENST00000377604.3		NA																	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.(688-690)Cga>Tga		RNA binding motif protein 10							87.0	62.0	71.0					X																	47038526		2203	4300	6503	SO:0001587	stop_gained	8241				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding	g.chrX:47038526C>T	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.688C>T	X.37:g.47038526C>T	ENSP00000366829:p.Arg230*	True	False		Somatic	0				RBM10_ENST00000345781.6_Nonsense_Mutation_p.R153*|RBM10_ENST00000329236.7_Nonsense_Mutation_p.R153*	p.R230*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	WXS	Illumina HiSeq	Phase_I	P98175	RBM10_HUMAN			8	1430	+			230					C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Nonsense_Mutation	SNP	ENST00000377604.3	37	c.688C>T	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	C	40	8.367802	0.98779	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.0	10.5381	0.45016	0.1929:0.8071:0.0:0.0	.	.	.	.	X	230;153;153	.	ENSP00000328848:R153X	R	+	1	2	RBM10	46923470	1.000000	0.71417	0.999000	0.59377	0.934000	0.57294	2.893000	0.48633	2.286000	0.76751	0.436000	0.28706	CGA		0.597	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056381.1	0	NM_005676		X:47038526
CACNB1	782	broad.mit.edu	37	17	37334238	37334238	+	Splice_Site	SNP	G	G	T	rs143114489		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:37334238G>T	ENST00000394303.3	-	12	1352	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H	CACNB1_ENST00000394310.3_Splice_Site_p.P382H|CACNB1_ENST00000344140.5_Splice_Site_p.P427H|RP5-906A24.2_ENST00000579256.1_RNA	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	382					axon guidance (GO:0007411)|protein targeting to membrane (GO:0006612)|transport (GO:0006810)	sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Dronedarone(DB04855)|Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCACTCACAGGGGGGCACTG	0.537																																					Esophageal Squamous(5;100 366 38393 41452 45827)	ENST00000394303.3		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						c.(1144-1146)cCt>cAt		calcium channel, voltage-dependent, beta 1 subunit	Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)						110.0	108.0	109.0					17																	37334238		2203	4300	6503	SO:0001630	splice_region_variant	782				axon guidance	voltage-gated calcium channel complex		g.chr17:37334238G>T		CCDS11334.1, CCDS42311.1, CCDS45665.1	17q21-q22	2013-03-20			ENSG00000067191	ENSG00000067191		"""Calcium channel subunits"""	1401	protein-coding gene	gene with protein product		114207		CACNLB1		8381767, 8395940	Standard	NM_000723		Approved		uc002hrm.2	Q02641	OTTHUMG00000133217	ENST00000394303.3:c.1146+1C>A	17.37:g.37334238G>T		True	False		Somatic	0				CACNB1_ENST00000394310.3_Splice_Site_p.P382H|CACNB1_ENST00000344140.5_Splice_Site_p.P427H	p.P382H	NM_000723.4	NP_000714.3	WXS	Illumina HiSeq	Phase_I	Q02641	CACB1_HUMAN			12	1352	-			382					A8K114|O15331|Q02639|Q02640|Q8N3X9|Q9C085|Q9UD79	Splice_Site	SNP	ENST00000394303.3	37	c.1145C>A	CCDS42311.1	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409770	0.62399	.	.	ENSG00000067191	ENST00000539338;ENST00000394303;ENST00000344140;ENST00000394310;ENST00000536613	D;D;D	0.83250	-1.7;-1.7;-1.7	5.12	5.12	0.69794	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.91439	0.7298	M	0.81239	2.535	0.80722	D	1	D;D;D	0.89917	0.999;0.99;1.0	D;P;D	0.91635	0.953;0.683;0.999	D	0.92338	0.5879	10	0.87932	D	0	-17.0252	17.493	0.87709	0.0:0.0:1.0:0.0	.	427;382;382	Q02641-2;Q02641-3;Q02641	.;.;CACB1_HUMAN	H	332;382;427;382;333	ENSP00000377840:P382H;ENSP00000345461:P427H;ENSP00000377847:P382H	ENSP00000345461:P427H	P	-	2	0	CACNB1	34587764	1.000000	0.71417	0.928000	0.36995	0.384000	0.30261	7.501000	0.81600	2.674000	0.91012	0.467000	0.42956	CCT		0.537	CACNB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256945.3	0		Missense_Mutation	17:37334238
HTR1B	3351	broad.mit.edu	37	6	78172557	78172557	+	Silent	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:78172557A>C	ENST00000369947.2	-	1	933	c.564T>G	c.(562-564)cgT>cgG	p.R188R		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	188					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|bone remodeling (GO:0046849)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to temperature stimulus (GO:0071502)|drinking behavior (GO:0042756)|G-protein coupled receptor internalization (GO:0002031)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Clozapine(DB00363)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Methysergide(DB00247)|Naratriptan(DB00952)|Olanzapine(DB00334)|Ondansetron(DB00904)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Sumatriptan(DB00669)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CCTTAGCCTGACGCCAGAAGA	0.587																																						ENST00000369947.2		NA																	0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25						c.(562-564)cgT>cgG		5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)						67.0	73.0	71.0					6																	78172557		2203	4300	6503	SO:0001819	synonymous_variant	3351				G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity	g.chr6:78172557A>C	BC069065	CCDS4986.1	6q13	2012-08-08	2012-02-03		ENSG00000135312	ENSG00000135312		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5287	protein-coding gene	gene with protein product		182131	"""5-hydroxytryptamine (serotonin) receptor 1B"""			1348246, 11247661	Standard	NM_000863		Approved	S12, 5-HT1B, HTR1D2, 5-HT1DB	uc003pil.1	P28222	OTTHUMG00000015066	ENST00000369947.2:c.564T>G	6.37:g.78172557A>C		False	False		Somatic	0					p.R188R	NM_000863.1	NP_000854.1	WXS	Illumina HiSeq	Phase_I	P28222	5HT1B_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.205)	1	933	-		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)	188					Q4VAY7	Silent	SNP	ENST00000369947.2	37	c.564T>G	CCDS4986.1																																																																																				0.587	HTR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041292.1	0	NM_000863		6:78172557
DDHD1	80821	broad.mit.edu	37	14	53558534	53558534	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr14:53558534C>T	ENST00000323669.5	-	4	1257	c.1258G>A	c.(1258-1260)Gac>Aac	p.D420N	DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N|DDHD1_ENST00000357758.3_Missense_Mutation_p.D420N	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	420					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.D420H(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					CTTCCTTGGTCCATTTTCTGC	0.363																																						ENST00000357758.3		NA																	2	Substitution - Missense(2)	p.D420H(2)	cervix(2)	breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25						c.(1258-1260)Gac>Aac		DDHD domain containing 1							172.0	163.0	166.0					14																	53558534		2203	4300	6503	SO:0001583	missense	0				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding	g.chr14:53558534C>T	AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.1258G>A	14.37:g.53558534C>T	ENSP00000327104:p.Asp420Asn	False	False		Somatic	0				DDHD1_ENST00000323669.5_Missense_Mutation_p.D420N|DDHD1_ENST00000395606.1_Missense_Mutation_p.D427N	p.D420N	NM_030637.2	NP_085140.2	WXS	Illumina HiSeq	Phase_I	Q8NEL9	DDHD1_HUMAN			4	1441	-	Breast(41;0.037)		420					G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	Missense_Mutation	SNP	ENST00000323669.5	37	c.1258G>A	CCDS53895.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160544	0.94727	.	.	ENSG00000100523	ENST00000323669;ENST00000395606;ENST00000357758;ENST00000395610	T;T;T	0.52526	0.66;0.66;0.66	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.70640	0.3247	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.99	D;D;D	0.91635	0.99;0.999;0.936	T	0.71206	-0.4661	10	0.52906	T	0.07	-20.9578	19.563	0.95380	0.0:1.0:0.0:0.0	.	427;420;420	G5E9D1;Q8NEL9;Q8NEL9-2	.;DDHD1_HUMAN;.	N	420;427;420;291	ENSP00000327104:D420N;ENSP00000378970:D427N;ENSP00000350401:D420N	ENSP00000327104:D420N	D	-	1	0	DDHD1	52628284	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.694000	0.84235	2.630000	0.89119	0.561000	0.74099	GAC		0.363	DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1	0			14:53558534
SHQ1	55164	broad.mit.edu	37	3	72893552	72893552	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:72893552C>T	ENST00000325599.8	-	2	305	c.166G>A	c.(166-168)Gta>Ata	p.V56I	SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	56	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.V56L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCATTTTCTACAATTCTTCCA	0.333																																						ENST00000325599.8		NA																	1	Substitution - Missense(1)	p.V56L(1)	prostate(1)	NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(166-168)Gta>Ata		SHQ1, H/ACA ribonucleoprotein assembly factor							109.0	103.0	105.0					3																	72893552		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72893552C>T	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.166G>A	3.37:g.72893552C>T	ENSP00000315182:p.Val56Ile	False	False		Somatic	0				SHQ1_ENST00000463369.1_Missense_Mutation_p.V28I	p.V56I	NM_018130.2	NP_060600.2	WXS	Illumina HiSeq	Phase_I	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	2	305	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	56			CS.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.166G>A	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	14.58	2.576734	0.45902	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.35605	1.57;1.3	5.95	3.11	0.35812	CS-like domain (1);HSP20-like chaperone (1);	0.249859	0.39615	N	0.001319	T	0.24967	0.0606	L	0.52266	1.64	0.37946	D	0.932497	P	0.39391	0.671	B	0.32393	0.145	T	0.10520	-1.0626	10	0.34782	T	0.22	-8.7063	6.2311	0.20736	0.1324:0.6529:0.0:0.2147	.	56	Q6PI26	SHQ1_HUMAN	I	56;28	ENSP00000315182:V56I;ENSP00000417452:V28I	ENSP00000315182:V56I	V	-	1	0	SHQ1	72976242	1.000000	0.71417	0.994000	0.49952	0.729000	0.41735	1.181000	0.32017	0.849000	0.35215	0.655000	0.94253	GTA		0.333	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	0	NM_018130		3:72893552
NFAT5	10725	broad.mit.edu	37	16	69689654	69689654	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr16:69689654C>T	ENST00000354436.2	+	5	1412	c.1094C>T	c.(1093-1095)aCt>aTt	p.T365I	NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000349945.1_Missense_Mutation_p.T289I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I|NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	365	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATTGAAGGCACTACTGTTATA	0.423																																						ENST00000349945.1		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(865-867)aCt>aTt		nuclear factor of activated T-cells 5, tonicity-responsive							134.0	123.0	127.0					16																	69689654		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69689654C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1094C>T	16.37:g.69689654C>T	ENSP00000346420:p.Thr365Ile	False	False		Somatic	0				NFAT5_ENST00000393742.2_Missense_Mutation_p.T289I|NFAT5_ENST00000567239.1_Missense_Mutation_p.T383I|NFAT5_ENST00000354436.2_Missense_Mutation_p.T365I|NFAT5_ENST00000566899.1_Missense_Mutation_p.T289I|NFAT5_ENST00000432919.1_Missense_Mutation_p.T383I	p.T289I	NM_138714.3	NP_619728.2	WXS	Illumina HiSeq	Phase_I	O94916	NFAT5_HUMAN			7	2418	+			365			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.866C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	31	5.087559	0.94100	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.50548	0.74;0.74;0.74;0.74	5.58	5.58	0.84498	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.71779	0.3380	M	0.77103	2.36	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74630	-0.3601	10	0.87932	D	0	-2.7308	19.5696	0.95406	0.0:1.0:0.0:0.0	.	383;365;383;289	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	I	383;383;289;365;289	ENSP00000396538:T383I;ENSP00000338806:T289I;ENSP00000346420:T365I;ENSP00000377343:T289I	ENSP00000338806:T289I	T	+	2	0	NFAT5	68247155	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.768000	0.85345	2.638000	0.89438	0.467000	0.42956	ACT		0.423	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	0	NM_138714		16:69689654
TTN	7273	broad.mit.edu	37	2	179429212	179429212	+	Missense_Mutation	SNP	C	C	T	rs371910831		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr2:179429212C>T	ENST00000591111.1	-	276	76948	c.76724G>A	c.(76723-76725)cGc>cAc	p.R25575H	TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R27216H			Q8WZ42	TITIN_HUMAN	titin	25575	Fibronectin type-III 86. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAGCGGCCATCAGG	0.368																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(81646-81648)cGc>cAc		titin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,3726		0,0,1863	70.0	66.0	67.0		54452,73943,54827,55028	6.2	1.0	2		67	1,8211		0,1,4105	no	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	29,29,29,29	0,1,5968	TT,TC,CC		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging	18151/26927,24648/33424,18276/27052,18343/27119	179429212	1,11937	1863	4106	5969	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179429212C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76724G>A	2.37:g.179429212C>T	ENSP00000465570:p.Arg25575His	False	False		Somatic	0				TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24648H|TTN_ENST00000460472.2_Missense_Mutation_p.R18151H|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R18276H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R18343H|TTN_ENST00000591111.1_Missense_Mutation_p.R25575H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.R27216H	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	81871	-			25575			Fibronectin type-III 98.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.81647G>A		.	.	.	.	.	.	.	.	.	.	C	15.98	2.992185	0.54041	0.0	1.22E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73768	0.3629	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73209	-0.4055	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	18151;18276;18343;25575	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	24648;18151;18343;18276;18149	ENSP00000343764:R24648H;ENSP00000434586:R18151H;ENSP00000340554:R18343H;ENSP00000352154:R18276H	ENSP00000340554:R18343H	R	-	2	0	TTN	179137458	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	7.770000	0.85390	2.937000	0.99478	0.650000	0.86243	CGC		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179429212
GAB2	9846	broad.mit.edu	37	11	77937956	77937956	+	Silent	SNP	C	C	T	rs376813781		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:77937956C>T	ENST00000361507.4	-	4	847	c.762G>A	c.(760-762)ccG>ccA	p.P254P	GAB2_ENST00000526030.1_5'Flank|GAB2_ENST00000340149.2_Silent_p.P216P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	254					cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of mast cell degranulation (GO:0043306)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TGTGCCGGCTCGGCTTGGGAA	0.572																																						ENST00000361507.4		NA																INTS4/GAB2(2)	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24						c.(760-762)ccG>ccA		GRB2-associated binding protein 2							88.0	70.0	76.0					11																	77937956		2200	4292	6492	SO:0001819	synonymous_variant	9846				osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr11:77937956C>T	AB011143	CCDS8259.1, CCDS8260.1	11q13.4-q13.5	2013-01-10			ENSG00000033327	ENSG00000033327		"""Pleckstrin homology (PH) domain containing"""	14458	protein-coding gene	gene with protein product	"""Grb2-associated binder 2"""	606203				10391903, 10068651	Standard	NM_080491		Approved	KIAA0571	uc001ozh.3	Q9UQC2	OTTHUMG00000166673	ENST00000361507.4:c.762G>A	11.37:g.77937956C>T		True	False		Somatic	0				GAB2_ENST00000340149.2_Silent_p.P216P	p.P254P	NM_080491.2	NP_536739.1	WXS	Illumina HiSeq	Phase_I	Q9UQC2	GAB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)		4	847	-	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		254					A2RRM2|A6NEW9|A7MD36|O60317	Silent	SNP	ENST00000361507.4	37	c.762G>A	CCDS8259.1																																																																																				0.572	GAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391085.1	0	NM_080491		11:77937956
ARHGEF25	115557	broad.mit.edu	37	12	58010135	58010135	+	Missense_Mutation	SNP	C	C	T	rs375345701		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:58010135C>T	ENST00000286494.4	+	14	1949	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	AC025165.8_ENST00000610219.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P536S|AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000593846.1_RNA|AC025165.8_ENST00000444467.1_RNA	NM_182947.3	NP_891992	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	497						cytosol (GO:0005829)|myofibril (GO:0030016)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						GCCAAGAGGGCCTGGAGTGGG	0.592																																						ENST00000286494.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(1489-1491)Cct>Tct		Rho guanine nucleotide exchange factor (GEF) 25		C	SER/PRO,SER/PRO	1,4405	2.1+/-5.4	0,1,2202	65.0	68.0	67.0		1606,1489	0.8	0.0	12		67	0,8600		0,0,4300	no	missense,missense	ARHGEF25	NM_001111270.1,NM_182947.2	74,74	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	536/620,497/581	58010135	1,13005	2203	4300	6503	SO:0001583	missense	115557				regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity	g.chr12:58010135C>T		CCDS8947.1, CCDS44931.1	12q13.3	2011-11-16			ENSG00000240771	ENSG00000240771		"""Rho guanine nucleotide exchange factors"""	30275	protein-coding gene	gene with protein product	"""RAC/CDC42 exchange factor"""	610215				12547822	Standard	NM_182947		Approved	GEFT, p63RhoGEF	uc009zpy.4	Q86VW2	OTTHUMG00000152516	ENST00000286494.4:c.1489C>T	12.37:g.58010135C>T	ENSP00000286494:p.Pro497Ser	True	False		Somatic	0				AC025165.8_ENST00000356672.3_RNA|AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000333972.7_Missense_Mutation_p.P536S	p.P497S	NM_182947.3	NP_891992	WXS	Illumina HiSeq	Phase_I	Q86VW2	ARHGP_HUMAN			14	1949	+			497					A6NJH5|A9CQZ6|F8W7Z4|Q8WV84|Q96E63	Missense_Mutation	SNP	ENST00000286494.4	37	c.1489C>T	CCDS8947.1	.	.	.	.	.	.	.	.	.	.	c	5.613	0.297820	0.10622	2.27E-4	0.0	ENSG00000240771	ENST00000333972;ENST00000286494	T;T	0.27890	1.64;1.64	4.88	0.814	0.18756	Pleckstrin homology-type (1);	0.933227	0.08799	N	0.891986	T	0.19604	0.0471	L	0.42245	1.32	0.09310	N	1	B;B	0.12013	0.005;0.0	B;B	0.09377	0.004;0.001	T	0.35226	-0.9797	10	0.07325	T	0.83	.	4.0346	0.09724	0.0:0.4689:0.2308:0.3004	.	536;497	F8W7Z4;Q86VW2	.;ARHGP_HUMAN	S	536;497	ENSP00000335560:P536S;ENSP00000286494:P497S	ENSP00000286494:P497S	P	+	1	0	ARHGEF25	56296402	0.990000	0.36364	0.004000	0.12327	0.753000	0.42808	1.636000	0.37144	0.282000	0.22254	0.650000	0.86243	CCT		0.592	ARHGEF25-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000326561.1	0	NM_133483		12:58010135
PCDHGA2	56113	broad.mit.edu	37	5	140720422	140720422	+	Silent	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr5:140720422G>A	ENST00000394576.2	+	1	1884	c.1884G>A	c.(1882-1884)acG>acA	p.T628T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	628	Cadherin 6. {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.T628T(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACGGCGCGAGCCC	0.682																																						ENST00000394576.2		NA																	2	Substitution - coding silent(2)	p.T628T(2)	prostate(2)	breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1882-1884)acG>acA									35.0	42.0	40.0					5																	140720422		2198	4289	6487	SO:0001819	synonymous_variant	0							g.chr5:140720422G>A	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1884G>A	5.37:g.140720422G>A		False	False		Somatic	0				PCDHGA1_ENST00000517417.1_Intron	p.T628T	NM_018915.2	NP_061738.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1884	+			NA					Q52LL6|Q9Y5D5	Silent	SNP	ENST00000394576.2	37	c.1884G>A	CCDS47289.1																																																																																				0.682	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	0	NM_018915		5:140720422
ZC3H12B	340554	broad.mit.edu	37	X	64719038	64719038	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:64719038A>T	ENST00000338957.4	+	3	975	c.908A>T	c.(907-909)gAc>gTc	p.D303V	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	303							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTACCGAGACCTTCAAGTT	0.433																																						ENST00000338957.4		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(907-909)gAc>gTc		zinc finger CCCH-type containing 12B							102.0	93.0	96.0					X																	64719038		1886	4099	5985	SO:0001583	missense	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64719038A>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.908A>T	X.37:g.64719038A>T	ENSP00000340839:p.Asp303Val	False	False		Somatic	0				ZC3H12B_ENST00000423889.3_Missense_Mutation_p.D292V	p.D303V	NM_001010888.3	NP_001010888.3	WXS	Illumina HiSeq	Phase_I	Q5HYM0	ZC12B_HUMAN			3	975	+			292					B2RTQ3|E9PAJ6|Q5H9C0	Missense_Mutation	SNP	ENST00000338957.4	37	c.908A>T	CCDS48131.2	.	.	.	.	.	.	.	.	.	.	A	21.4	4.147401	0.77888	.	.	ENSG00000102053	ENST00000338957;ENST00000423889;ENST00000218172	T;T	0.60171	0.21;0.21	5.19	5.19	0.71726	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.82674	0.5088	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87653	0.2529	10	0.72032	D	0.01	-0.502	12.9175	0.58214	1.0:0.0:0.0:0.0	.	292	Q5HYM0	ZC12B_HUMAN	V	303;292;239	ENSP00000340839:D303V;ENSP00000408077:D292V	ENSP00000218172:D239V	D	+	2	0	ZC3H12B	64635763	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.237000	0.95368	1.731000	0.51592	0.417000	0.27973	GAC		0.433	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	0	XM_293334		X:64719038
WDR91	29062	broad.mit.edu	37	7	134879811	134879811	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr7:134879811C>T	ENST00000354475.4	-	9	1301	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR91_ENST00000485942.1_5'Flank|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T|WDR91_ENST00000344400.5_Missense_Mutation_p.A424T	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	424										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCTAAGCTGGCGACTCTCCTC	0.527																																						ENST00000354475.4		NA																	0				breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						c.(1270-1272)Gcc>Acc		WD repeat domain 91							105.0	79.0	88.0					7																	134879811		2203	4300	6503	SO:0001583	missense	29062							g.chr7:134879811C>T	AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.1270G>A	7.37:g.134879811C>T	ENSP00000346466:p.Ala424Thr	False	False		Somatic	0				WDR91_ENST00000344400.5_Missense_Mutation_p.A424T|WDR91_ENST00000423565.1_Missense_Mutation_p.A389T	p.A424T	NM_014149.3	NP_054868.3	WXS	Illumina HiSeq	Phase_I	A4D1P6	WDR91_HUMAN			9	1301	-			424					A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	ENST00000354475.4	37	c.1270G>A	CCDS34758.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.005501	0.93287	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.38240	1.15;4.49;4.49	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.66528	0.2798	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.72766	-0.4194	10	0.66056	D	0.02	-21.2761	18.5117	0.90918	0.0:1.0:0.0:0.0	.	424	A4D1P6	WDR91_HUMAN	T	424;424;389	ENSP00000340877:A424T;ENSP00000346466:A424T;ENSP00000392555:A389T	ENSP00000340877:A424T	A	-	1	0	WDR91	134530351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.737000	0.68606	2.470000	0.83445	0.555000	0.69702	GCC		0.527	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340019.1	0	NM_014149		7:134879811
HIST1H2BJ	8970	broad.mit.edu	37	6	27100336	27100336	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr6:27100336G>A	ENST00000607124.1	-	1	193	c.194C>T	c.(193-195)tCg>tTg	p.S65L	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	65					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GTTCACAAACGAATTCATGAT	0.562																																						ENST00000607124.1		NA																	0				breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						c.(193-195)tCg>tTg		histone cluster 1, H2bj							179.0	170.0	173.0					6																	27100336		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100336G>A	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.194C>T	6.37:g.27100336G>A	ENSP00000476136:p.Ser65Leu	False	False		Somatic	0				HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.S65L|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.S65L	p.S65L			WXS	Illumina HiSeq	Phase_I	P06899	H2B1J_HUMAN			1	193	-			65					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.194C>T	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	17.07	3.294289	0.60086	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.70986	-0.53;-0.53	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	.	.	.	.	D	0.85535	0.5719	M	0.93197	3.39	0.53005	D	0.999962	D	0.89917	1.0	D	0.78314	0.991	D	0.89287	0.3616	9	0.87932	D	0	.	14.8046	0.69942	0.0:0.0:1.0:0.0	.	65	P06899	H2B1J_HUMAN	L	65	ENSP00000445633:S65L;ENSP00000342886:S65L	ENSP00000342886:S65L	S	-	2	0	HIST1H2BJ	27208315	1.000000	0.71417	1.000000	0.80357	0.089000	0.18198	5.831000	0.69330	2.273000	0.75805	0.591000	0.81541	TCG		0.562	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	0	NM_021058		6:27100336
BEND7	222389	broad.mit.edu	37	10	13534699	13534699	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:13534699A>T	ENST00000396900.2	-	5	748	c.749T>A	c.(748-750)cTa>cAa	p.L250Q	BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000341083.3_Missense_Mutation_p.L198Q|BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	250						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						GAGAGCAGATAGCTCAGAGGC	0.522																																						ENST00000341083.3		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(592-594)cTa>cAa		BEN domain containing 7							118.0	121.0	120.0					10																	13534699		2203	4300	6503	SO:0001583	missense	222389						protein binding	g.chr10:13534699A>T	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.749T>A	10.37:g.13534699A>T	ENSP00000380108:p.Leu250Gln	False	False		Somatic	0				BEND7_ENST00000396898.2_Missense_Mutation_p.L263Q|BEND7_ENST00000378605.3_Missense_Mutation_p.L211Q|BEND7_ENST00000396900.2_Missense_Mutation_p.L250Q	p.L198Q	NM_152751.2	NP_689964.2	WXS	Illumina HiSeq	Phase_I	Q8N7W2	BEND7_HUMAN			5	889	-			250					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37	c.593T>A		.	.	.	.	.	.	.	.	.	.	A	0.062	-1.222652	0.01530	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.42900	0.97;0.96;1.01;1.0	5.57	1.77	0.24775	.	1.910940	0.01827	N	0.034462	T	0.14743	0.0356	N	0.01352	-0.895	0.18873	N	0.999986	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.25537	-1.0129	10	0.11794	T	0.64	-0.0468	0.9763	0.01426	0.1446:0.1993:0.205:0.4511	.	263;198	E5RFC0;Q8N7W2-3	.;.	Q	250;198;263;211	ENSP00000380108:L250Q;ENSP00000345773:L198Q;ENSP00000380107:L263Q;ENSP00000367868:L211Q	ENSP00000345773:L198Q	L	-	2	0	BEND7	13574705	0.168000	0.22989	0.353000	0.25747	0.028000	0.11728	0.366000	0.20365	0.404000	0.25506	-0.347000	0.07816	CTA		0.522	BEND7-202	KNOWN	basic	protein_coding	protein_coding		0	NM_152751		10:13534699
MRVI1	10335	broad.mit.edu	37	11	10597887	10597887	+	Nonsense_Mutation	SNP	C	C	A	rs552025202	byFrequency	TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:10597887C>A	ENST00000436272.1	-	20	2728	c.2650G>T	c.(2650-2652)Gag>Tag	p.E884*	MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000547195.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	884					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TCCTACTGCTCTGTAGGCTGC	0.577																																						ENST00000547195.1		NA																	0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(2458-2460)Gag>Tag		murine retrovirus integration site 1 homolog							62.0	63.0	63.0					11																	10597887		2001	4164	6165	SO:0001587	stop_gained	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10597887C>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.2650G>T	11.37:g.10597887C>A	ENSP00000412229:p.Glu884*	False	False		Somatic	0				MRVI1_ENST00000424001.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000423302.2_Nonsense_Mutation_p.E911*|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Nonsense_Mutation_p.E705*|MRVI1_ENST00000552103.1_Nonsense_Mutation_p.E820*|MRVI1_ENST00000534266.2_Nonsense_Mutation_p.E596*|MRVI1_ENST00000531107.1_Nonsense_Mutation_p.E903*|MRVI1_ENST00000421747.1_Nonsense_Mutation_p.E902*|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000558540.1_Nonsense_Mutation_p.E596*|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000436272.1_Nonsense_Mutation_p.E884*|MRVI1_ENST00000545852.1_Nonsense_Mutation_p.E596*|MRVI1_ENST00000527509.2_Nonsense_Mutation_p.E820*	p.E820*	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	WXS	Illumina HiSeq	Phase_I	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	20	2958	-			884					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Nonsense_Mutation	SNP	ENST00000436272.1	37	c.2458G>T		.	.	.	.	.	.	.	.	.	.	C	37	6.421158	0.97555	.	.	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000541483;ENST00000531107;ENST00000527509	.	.	.	5.82	5.82	0.92795	.	0.067651	0.56097	D	0.000025	.	.	.	.	.	.	0.48236	D	0.999611	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-21.5337	17.8936	0.88879	0.0:1.0:0.0:0.0	.	.	.	.	X	902;885;884;820;820;596;596;911;705;903;820	.	ENSP00000307885:E885X	E	-	1	0	MRVI1	10554463	1.000000	0.71417	0.995000	0.50966	0.761000	0.43186	5.018000	0.64054	2.757000	0.94681	0.655000	0.94253	GAG		0.577	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		0	NM_001098579		11:10597887
KRAS	3845	broad.mit.edu	37	12	25380275	25380275	+	Missense_Mutation	SNP	T	T	G	rs17851045		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr12:25380275T>G	ENST00000256078.4	-	3	246	c.183A>C	c.(181-183)caA>caC	p.Q61H	KRAS_ENST00000311936.3_Missense_Mutation_p.Q61H|KRAS_ENST00000557334.1_Intron|AC087239.1_ENST00000594112.1_5'Flank	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	61			Q -> H (in lung carcinoma; dbSNP:rs17851045). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:16533793, ECO:0000269|Ref.7}.|Q -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61H(153)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TGTACTCCTCTTGACCTGCTG	0.423	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	Q61H(CL11_LARGE_INTESTINE)|Q61H(HS766T_PANCREAS)|Q61H(NCIH1155_LUNG)|Q61H(NCIH460_LUNG)|Q61H(T3M4_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	153	Substitution - Missense(153)	p.Q61H(153)	large_intestine(74)|lung(26)|pancreas(18)|haematopoietic_and_lymphoid_tissue(9)|endometrium(7)|soft_tissue(3)|biliary_tract(3)|liver(3)|cervix(2)|skin(2)|kidney(2)|stomach(1)|small_intestine(1)|ovary(1)|NS(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(181-183)caA>caC		Kirsten rat sarcoma viral oncogene homolog							109.0	98.0	102.0					12																	25380275		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25380275T>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.183A>C	12.37:g.25380275T>G	ENSP00000256078:p.Gln61His	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Intron|KRAS_ENST00000256078.4_Missense_Mutation_p.Q61H	p.Q61H	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		3	374	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		61		Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.183A>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133750	0.77662	.	.	ENSG00000133703	ENST00000311936;ENST00000256078	D;D	0.84146	-1.81;-1.81	5.77	5.77	0.91146	Small GTP-binding protein domain (1);	0.049057	0.85682	D	0.000000	D	0.87265	0.6134	M	0.91140	3.18	0.80722	D	1	B;B	0.33413	0.411;0.09	B;B	0.32724	0.092;0.151	D	0.87829	0.2643	10	0.72032	D	0.01	.	9.9836	0.41828	0.0:0.0752:0.0:0.9248	.	61;61	P01116-2;P01116	.;RASK_HUMAN	H	61	ENSP00000308495:Q61H;ENSP00000256078:Q61H	ENSP00000256078:Q61H	Q	-	3	2	KRAS	25271542	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.240000	0.43088	2.326000	0.78906	0.533000	0.62120	CAA		0.423	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25380275
SLC29A3	55315	broad.mit.edu	37	10	73115969	73115969	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:73115969T>C	ENST00000373189.5	+	5	794	c.742T>C	c.(742-744)Tac>Cac	p.Y248H	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	248					transmembrane transport (GO:0055085)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						CATGGGACTCTACCTGCTGCT	0.557																																					Esophageal Squamous(200;1319 2142 18949 31248 39672)	ENST00000373189.5		NA																	0				endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(742-744)Tac>Cac		solute carrier family 29 (equilibrative nucleoside transporter), member 3							134.0	96.0	109.0					10																	73115969		2203	4300	6503	SO:0001583	missense	55315				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity	g.chr10:73115969T>C	AF326987	CCDS7310.1	10q22.2	2013-07-17	2013-07-17		ENSG00000198246	ENSG00000198246		"""Solute carriers"""	23096	protein-coding gene	gene with protein product		612373	"""solute carrier family 29 (nucleoside transporters), member 3"""			11396612	Standard	NM_018344		Approved	ENT3, FLJ11160	uc001jrr.4	Q9BZD2	OTTHUMG00000018424	ENST00000373189.5:c.742T>C	10.37:g.73115969T>C	ENSP00000362285:p.Tyr248His	False	False		Somatic	0				SLC29A3_ENST00000469204.1_3'UTR	p.Y248H	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	WXS	Illumina HiSeq	Phase_I	Q9BZD2	S29A3_HUMAN			5	794	+			248					B2RB50|B4E2Z9|B7ZA37|Q0VAM9|Q5T465|Q7RTT8|Q8IVZ0|Q9BWI2|Q9NUS9	Missense_Mutation	SNP	ENST00000373189.5	37	c.742T>C	CCDS7310.1	.	.	.	.	.	.	.	.	.	.	T	15.96	2.986026	0.53934	.	.	ENSG00000198246	ENST00000373189	T	0.69040	-0.37	4.64	4.64	0.57946	.	0.079672	0.52532	D	0.000066	D	0.83271	0.5218	M	0.90922	3.16	0.46241	D	0.998940	P	0.52692	0.955	D	0.63283	0.913	D	0.89602	0.3835	9	0.87932	D	0	-16.1853	12.8084	0.57626	0.0:0.0:0.0:1.0	.	248	Q9BZD2	S29A3_HUMAN	H	248	ENSP00000362285:Y248H	ENSP00000362285:Y248H	Y	+	1	0	SLC29A3	72785975	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	7.100000	0.76989	1.961000	0.56991	0.460000	0.39030	TAC		0.557	SLC29A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048544.1	0	NM_018344		10:73115969
C15orf59	388135	broad.mit.edu	37	15	74032751	74032751	+	Missense_Mutation	SNP	G	G	A	rs200967826		TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr15:74032751G>A	ENST00000569673.1	-	3	1593	c.389C>T	c.(388-390)tCg>tTg	p.S130L	C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	130										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGGCCGAGTCGACTCGGGACC	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16187	0.001		0.0	False		,,,				2504	0.0					ENST00000569673.1		NA																	0				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(388-390)tCg>tTg		chromosome 15 open reading frame 59							57.0	62.0	60.0					15																	74032751		2197	4295	6492	SO:0001583	missense	388135							g.chr15:74032751G>A		CCDS32289.1	15q24.1	2012-09-27			ENSG00000205363	ENSG00000205363			33753	protein-coding gene	gene with protein product							Standard	XM_005254369		Approved	MGC131524, LOC388135	uc002avy.3	Q2T9L4	OTTHUMG00000172556	ENST00000569673.1:c.389C>T	15.37:g.74032751G>A	ENSP00000457205:p.Ser130Leu	False	False		Somatic	0				C15orf59_ENST00000379822.4_Missense_Mutation_p.S130L|C15orf59_ENST00000558834.1_5'UTR	p.S130L			WXS	Illumina HiSeq	Phase_I	Q2T9L4	CO059_HUMAN			3	1593	-			130						Missense_Mutation	SNP	ENST00000569673.1	37	c.389C>T	CCDS32289.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	9.372	1.070796	0.20147	.	.	ENSG00000205363	ENST00000379822	T	0.45276	0.9	4.62	3.71	0.42584	.	0.982181	0.08300	N	0.967019	T	0.23171	0.0560	N	0.08118	0	0.26565	N	0.973666	B	0.02656	0.0	B	0.04013	0.001	T	0.18808	-1.0325	10	0.28530	T	0.3	.	7.1777	0.25755	0.0896:0.0:0.7437:0.1667	.	130	Q2T9L4	CO059_HUMAN	L	130	ENSP00000369150:S130L	ENSP00000369150:S130L	S	-	2	0	C15orf59	71819804	0.002000	0.14202	0.245000	0.24217	0.633000	0.38033	0.051000	0.14141	1.156000	0.42514	0.561000	0.74099	TCG		0.627	C15orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419077.2	0	NM_001039614		15:74032751
BTAF1	9044	broad.mit.edu	37	10	93711219	93711219	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr10:93711219G>C	ENST00000265990.6	+	5	768	c.460G>C	c.(460-462)Ggc>Cgc	p.G154R		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	154					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GAAGAAACTTGGCCTTAATAT	0.363																																						ENST00000265990.6		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59						c.(460-462)Ggc>Cgc		BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa							102.0	101.0	101.0					10																	93711219		2203	4300	6503	SO:0001583	missense	9044				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	g.chr10:93711219G>C	AJ001017	CCDS7419.1	10q22-q23	2013-05-01	2013-05-01		ENSG00000095564	ENSG00000095564			17307	protein-coding gene	gene with protein product	"""Mot1 homolog (S. cerevisiae)"""	605191	"""BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170 kD (Mot1 homolog, S. cerevisiae)"""			9342322, 9488487	Standard	NM_003972		Approved	TAFII170, TAF172, MOT1, TAF-172, TAF(II)170	uc001khr.3	O14981	OTTHUMG00000018752	ENST00000265990.6:c.460G>C	10.37:g.93711219G>C	ENSP00000265990:p.Gly154Arg	False	False		Somatic	0					p.G154R	NM_003972.2	NP_003963.1	WXS	Illumina HiSeq	Phase_I	O14981	BTAF1_HUMAN			5	768	+		Colorectal(252;0.0846)	154					B4E0W6|O43578	Missense_Mutation	SNP	ENST00000265990.6	37	c.460G>C	CCDS7419.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.762311	0.89932	.	.	ENSG00000095564	ENST00000265990	D	0.96041	-3.89	4.97	4.97	0.65823	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.97729	0.9255	M	0.84082	2.675	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.98183	1.0458	10	0.59425	D	0.04	-22.9285	18.5949	0.91226	0.0:0.0:1.0:0.0	.	154	O14981	BTAF1_HUMAN	R	154	ENSP00000265990:G154R	ENSP00000265990:G154R	G	+	1	0	BTAF1	93701199	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.420000	0.97426	2.478000	0.83669	0.467000	0.42956	GGC		0.363	BTAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049380.4	0	NM_003972		10:93711219
CYP7A1	1581	broad.mit.edu	37	8	59404129	59404129	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr8:59404129C>G	ENST00000301645.3	-	6	1557	c.1420G>C	c.(1420-1422)Gct>Cct	p.A474P		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	474					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GGACATTTAGCTTGGCCCTCT	0.388									Neonatal Giant Cell Hepatitis																													ENST00000301645.3		NA																	0				breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34						c.(1420-1422)Gct>Cct		cytochrome P450, family 7, subfamily A, polypeptide 1							51.0	52.0	52.0					8																	59404129		2203	4300	6503	SO:0001583	missense	1581	Neonatal Giant Cell Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59404129C>G	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1420G>C	8.37:g.59404129C>G	ENSP00000301645:p.Ala474Pro	False	False		Somatic	0					p.A474P	NM_000780.3	NP_000771.2	WXS	Illumina HiSeq	Phase_I	P22680	CP7A1_HUMAN			6	1557	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	474					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.1420G>C	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	C	3.564	-0.089000	0.07097	.	.	ENSG00000167910	ENST00000301645	T	0.68903	-0.36	5.87	2.84	0.33178	.	0.680316	0.16054	N	0.231815	T	0.44993	0.1320	N	0.20574	0.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20207	-1.0282	10	0.29301	T	0.29	-4.2366	4.4174	0.11463	0.1293:0.6122:0.1248:0.1336	.	474	P22680	CP7A1_HUMAN	P	474	ENSP00000301645:A474P	ENSP00000301645:A474P	A	-	1	0	CYP7A1	59566683	0.028000	0.19301	0.004000	0.12327	0.042000	0.13812	1.296000	0.33389	0.877000	0.35895	0.655000	0.94253	GCT		0.388	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	0	NM_000780		8:59404129
LRRN2	10446	broad.mit.edu	37	1	204587730	204587730	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr1:204587730C>T	ENST00000367175.1	-	1	3603	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	464	Ig-like C2-type.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AGGTGTCAGTCGAAGCCCAGC	0.637																																						ENST00000367175.1		NA																	0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1390-1392)cGa>cAa		leucine rich repeat neuronal 2							59.0	55.0	56.0					1																	204587730		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587730C>T	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1391G>A	1.37:g.204587730C>T	ENSP00000356143:p.Arg464Gln	False	False		Somatic	0				LRRN2_ENST00000367176.3_Missense_Mutation_p.R464Q|LRRN2_ENST00000367177.3_Missense_Mutation_p.R464Q	p.R464Q			WXS	Illumina HiSeq	Phase_I	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	3603	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		464			Ig-like C2-type.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1391G>A	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616534	0.46736	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.66099	-0.19;-0.19;-0.19	5.53	5.53	0.82687	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.35805	N	0.002967	T	0.63522	0.2518	L	0.27975	0.815	0.40277	D	0.978359	D	0.76494	0.999	D	0.67103	0.949	T	0.66248	-0.5971	10	0.56958	D	0.05	.	7.6259	0.28212	0.0:0.798:0.0:0.202	.	464	O75325	LRRN2_HUMAN	Q	464	ENSP00000356144:R464Q;ENSP00000356145:R464Q;ENSP00000356143:R464Q	ENSP00000356143:R464Q	R	-	2	0	LRRN2	202854353	0.999000	0.42202	0.996000	0.52242	0.318000	0.28184	1.920000	0.40025	2.604000	0.88044	0.591000	0.81541	CGA		0.637	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	0	NM_006338		1:204587730
CTC-260E6.6	0	broad.mit.edu	37	19	20369296	20369296	+	RNA	SNP	C	C	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr19:20369296C>T	ENST00000593655.1	-	0	199																											TGGGATGACACGAAACACCTG	0.378																																						ENST00000593655.1		NA																	0					NA																																														0							g.chr19:20369296C>T																													19.37:g.20369296C>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	199	-			NA						RNA	SNP	ENST00000593655.1	37																																																																																						0.378	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1	0			19:20369296
TTC19	54902	broad.mit.edu	37	17	15909860	15909860	+	Silent	SNP	A	A	G			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr17:15909860A>G	ENST00000261647.5	+	7	1123	c.654A>G	c.(652-654)gaA>gaG	p.E218E	TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.E339E	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	218					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAGAAAAGGAATTAGCAGAAG	0.363																																						ENST00000261647.5		NA																	0				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5						c.(652-654)gaA>gaG		tetratricopeptide repeat domain 19							103.0	112.0	109.0					17																	15909860		2203	4300	6503	SO:0001819	synonymous_variant	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15909860A>G	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.654A>G	17.37:g.15909860A>G		False	False		Somatic	0				TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Silent_p.E339E	p.E218E	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	WXS	Illumina HiSeq	Phase_I	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	7	1123	+			218					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Silent	SNP	ENST00000261647.5	37	c.654A>G	CCDS11174.2																																																																																				0.363	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	0	NM_017775		17:15909860
LRP5	4041	broad.mit.edu	37	11	68190978	68190978	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr11:68190978A>T	ENST00000294304.7	+	14	3155	c.3049A>T	c.(3049-3051)Agc>Tgc	p.S1017C		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1017	Beta-propeller 4.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GACCTCTCTGAGCCAAGGCCA	0.587																																						ENST00000294304.7		NA																	0				autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(3049-3051)Agc>Tgc		low density lipoprotein receptor-related protein 5							110.0	108.0	108.0					11																	68190978		2200	4294	6494	SO:0001583	missense	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68190978A>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.3049A>T	11.37:g.68190978A>T	ENSP00000294304:p.Ser1017Cys	False	False		Somatic	0					p.S1017C	NM_002335.2	NP_002326.2	WXS	Illumina HiSeq	Phase_I	O75197	LRP5_HUMAN			14	3155	+			1017			Beta-propeller 4.		Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	ENST00000294304.7	37	c.3049A>T	CCDS8181.1	.	.	.	.	.	.	.	.	.	.	A	12.73	2.026432	0.35701	.	.	ENSG00000162337	ENST00000294304	D	0.91407	-2.84	4.03	-2.07	0.07276	Six-bladed beta-propeller, TolB-like (1);	0.252624	0.26106	U	0.026301	D	0.83603	0.5290	L	0.32530	0.975	0.09310	N	1	P;P	0.40875	0.731;0.731	B;B	0.42087	0.375;0.375	T	0.77051	-0.2731	10	0.54805	T	0.06	.	9.1434	0.36917	0.6278:0.0:0.3722:0.0	.	1017;1017	Q9UES7;O75197	.;LRP5_HUMAN	C	1017	ENSP00000294304:S1017C	ENSP00000294304:S1017C	S	+	1	0	LRP5	67947554	0.013000	0.17824	0.008000	0.14137	0.893000	0.52053	0.331000	0.19733	-0.329000	0.08527	0.397000	0.26171	AGC		0.587	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1	0	NM_002335		11:68190978
NLGN4X	57502	broad.mit.edu	37	X	5821413	5821413	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chrX:5821413G>A	ENST00000381095.3	-	5	1933	c.1306C>T	c.(1306-1308)Cgg>Tgg	p.R436W	NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	436					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTTTTCCGCCGCGTCTCCGGG	0.602																																						ENST00000381095.3		NA																	0				breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						c.(1306-1308)Cgg>Tgg		neuroligin 4, X-linked							18.0	20.0	20.0					X																	5821413		2199	4292	6491	SO:0001583	missense	57502				brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	g.chrX:5821413G>A	AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.1306C>T	X.37:g.5821413G>A	ENSP00000370485:p.Arg436Trp	False	False		Somatic	0				NLGN4X_ENST00000381092.1_Missense_Mutation_p.R436W|NLGN4X_ENST00000275857.6_Missense_Mutation_p.R436W|NLGN4X_ENST00000381093.2_Missense_Mutation_p.R456W|NLGN4X_ENST00000538097.1_Missense_Mutation_p.R436W	p.R436W	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	WXS	Illumina HiSeq	Phase_I	Q8N0W4	NLGNX_HUMAN			5	1933	-			436					Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	c.1306C>T	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	G	8.908	0.958125	0.18507	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.58797	0.31;0.31;0.31;0.31;0.31	3.93	3.05	0.35203	Carboxylesterase, type B (1);	.	.	.	.	T	0.71813	0.3384	M	0.70275	2.135	0.35192	D	0.773473	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.985;1.0;0.998	T	0.76849	-0.2807	8	.	.	.	.	11.0511	0.47889	0.0:0.0:0.6677:0.3323	.	493;436;456	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	W	436;456;436;436;436	ENSP00000370485:R436W;ENSP00000370483:R456W;ENSP00000275857:R436W;ENSP00000370482:R436W;ENSP00000439203:R436W	.	R	-	1	2	NLGN4X	5831413	0.988000	0.35896	0.002000	0.10522	0.003000	0.03518	2.082000	0.41605	0.507000	0.28148	-0.222000	0.12452	CGG		0.602	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	0	NM_020742		X:5821413
CHGB	1114	broad.mit.edu	37	20	5903661	5903661	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr20:5903661G>A	ENST00000378961.4	+	4	1075	c.871G>A	c.(871-873)Gac>Aac	p.D291N		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	291						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGCAGGCCCGACAGGTCCTC	0.582																																						ENST00000378961.4		NA																	0				breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						c.(871-873)Gac>Aac		chromogranin B (secretogranin 1)							26.0	28.0	27.0					20																	5903661		2203	4300	6503	SO:0001583	missense	1114					extracellular region	hormone activity	g.chr20:5903661G>A		CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.871G>A	20.37:g.5903661G>A	ENSP00000368244:p.Asp291Asn	True	False		Somatic	0					p.D291N	NM_001819.2	NP_001810.2	WXS	Illumina HiSeq	Phase_I	P05060	SCG1_HUMAN			4	1075	+			291					A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	ENST00000378961.4	37	c.871G>A	CCDS13092.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073615	0.36566	.	.	ENSG00000089199	ENST00000378961;ENST00000455042	T;T	0.02050	4.48;4.48	5.11	4.15	0.48705	.	0.314175	0.28515	N	0.015066	T	0.02156	0.0067	L	0.46741	1.465	0.20307	N	0.999911	P	0.37997	0.614	B	0.34346	0.18	T	0.42816	-0.9429	10	0.12766	T	0.61	-27.4409	7.586	0.27993	0.0861:0.0:0.7505:0.1634	.	291	P05060	SCG1_HUMAN	N	291;271	ENSP00000368244:D291N;ENSP00000416643:D271N	ENSP00000368244:D291N	D	+	1	0	CHGB	5851661	0.928000	0.31464	0.965000	0.40720	0.653000	0.38743	2.775000	0.47702	1.114000	0.41781	0.563000	0.77884	GAC		0.582	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077897.2	0	NM_001819		20:5903661
BCHE	590	broad.mit.edu	37	3	165548002	165548002	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7649-01A-11D-2154-08	TCGA-IB-7649-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	04fede70-370b-42f5-b5d4-6e2139eada5e	5f3e7083-a7fe-45bc-b73b-a05aeafdf4d1	g.chr3:165548002A>C	ENST00000264381.3	-	2	986	c.820T>G	c.(820-822)Tta>Gta	p.L274V	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	274					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	AATTTAGCTAAGTTCAACGTT	0.388																																						ENST00000264381.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55						c.(820-822)Tta>Gta		butyrylcholinesterase	Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)						97.0	102.0	100.0					3																	165548002		2203	4299	6502	SO:0001583	missense	590				choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding	g.chr3:165548002A>C	M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.820T>G	3.37:g.165548002A>C	ENSP00000264381:p.Leu274Val	False	False		Somatic	0				BCHE_ENST00000540653.1_Intron	p.L274V	NM_000055.2	NP_000046.1	WXS	Illumina HiSeq	Phase_I	P06276	CHLE_HUMAN			2	986	-			274					A8K7P8	Missense_Mutation	SNP	ENST00000264381.3	37	c.820T>G	CCDS3198.1	.	.	.	.	.	.	.	.	.	.	A	8.722	0.914687	0.17907	.	.	ENSG00000114200	ENST00000264381	T	0.71341	-0.56	5.62	3.23	0.37069	Carboxylesterase, type B (1);	0.000000	0.64402	D	0.000001	T	0.78104	0.4231	M	0.68317	2.08	0.80722	D	1	P	0.40211	0.707	P	0.55785	0.784	T	0.76774	-0.2835	10	0.87932	D	0	.	9.2194	0.37366	0.8528:0.0:0.1472:0.0	.	274	P06276	CHLE_HUMAN	V	274	ENSP00000264381:L274V	ENSP00000264381:L274V	L	-	1	2	BCHE	167030696	0.408000	0.25360	0.251000	0.24312	0.017000	0.09413	1.019000	0.30014	0.419000	0.25927	0.533000	0.62120	TTA		0.388	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350254.1	0			3:165548002
