#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
GNB1	2782	broad.mit.edu	37	1	1722017	1722018	+	Frame_Shift_Ins	INS	-	-	AGATTGCTAAATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:1722017_1722018insAGATTGCTAAATT	ENST00000378609.4	-	9	846_847	c.515_516insAATTTAGCAATCT	c.(514-516)gagfs	p.-172fs		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GCTGGCCGGTCTCGATGTCCCA	0.535																																						ENST00000378609.4		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12						c.(514-516)gagfs		guanine nucleotide binding protein (G protein), beta polypeptide 1																																				SO:0001589	frameshift_variant	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1722017_1722018insAGATTGCTAAATT	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.515_516insAATTTAGCAATCT	1.37:g.1722017_1722018insAGATTGCTAAATT	ENSP00000367872:p.Glu172fs	False	False		Somatic	0					p.-172fs	NM_002074.3	NP_002065.1	WXS	Illumina HiSeq	Phase_I	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	9	846_847	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	NA					B1AJZ7|P04697|P04901|Q1RMY8	Frame_Shift_Ins	INS	ENST00000378609.4	37	c.515_516insAATTTAGCAATCT	CCDS34.1																																																																																				0.535	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	0	NM_002074		1:1722017
EXTL2	2135	broad.mit.edu	37	1	101339575	101339576	+	Frame_Shift_Ins	INS	-	-	ATGTATTTTTTTAAGCAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	ENST00000370114.3	-	5	2351_2352	c.915_916insGTTGCTTAAAAAAATACAT	c.(913-918)gatagcfs	p.S306fs	EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs|EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	306					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		AAGGGCATGCTATCATAGATAT	0.351																																						ENST00000370114.3		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(913-918)gatagcfs		exostosin-like glycosyltransferase 2																																				SO:0001589	frameshift_variant	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339575_101339576insATGTATTTTTTTAAGCAAC	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.915_916insGTTGCTTAAAAAAATACAT	1.37:g.101339575_101339576insATGTATTTTTTTAAGCAAC	ENSP00000359132:p.Ser306fs	False	False		Somatic	0				EXTL2_ENST00000370113.3_Frame_Shift_Ins_p.S306fs|EXTL2_ENST00000535414.1_Frame_Shift_Ins_p.S293fs	p.S306fs	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	WXS	Illumina HiSeq	Phase_I	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2351_2352	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	306					B2R795|D3DT60	Frame_Shift_Ins	INS	ENST00000370114.3	37	c.915_916insGTTGCTTAAAAAAATACAT	CCDS775.1																																																																																				0.351	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	0	NM_001439		1:101339575
SORT1	6272	broad.mit.edu	37	1	109888457	109888458	+	Frame_Shift_Ins	INS	-	-	GTTATATTTAGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:109888457_109888458insGTTATATTTAGTA	ENST00000256637.6	-	8	936_937	c.878_879insTACTAAATATAAC	c.(877-879)ggafs	p.-293fs	SORT1_ENST00000538502.1_Frame_Shift_Ins_p.-156fs	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1						endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TGAAGCTTTTTCCCAAGTCTGA	0.396																																						ENST00000256637.6		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26						c.(877-879)ggafs		sortilin 1																																				SO:0001589	frameshift_variant	6272				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled	g.chr1:109888457_109888458insGTTATATTTAGTA	BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.878_879insTACTAAATATAAC	1.37:g.109888457_109888458insGTTATATTTAGTA	ENSP00000256637:p.Gly293fs	True	False		Somatic	0				SORT1_ENST00000538502.1_Frame_Shift_Ins_p.-156fs	p.-293fs	NM_002959.5	NP_002950.3	WXS	Illumina HiSeq	Phase_I	Q99523	SORT_HUMAN		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)	8	936_937	-		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)	NA					B4DWI3|C0JYZ0|Q8IZ49	Frame_Shift_Ins	INS	ENST00000256637.6	37	c.878_879insTACTAAATATAAC	CCDS798.1																																																																																				0.396	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033179.1	0	NM_002959		1:109888457
CCAR1	55749	broad.mit.edu	37	10	70531138	70531139	+	In_Frame_Ins	INS	-	-	TAGCCAAATTTCAACAGAAATAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:70531138_70531139insTAGCCAAATTTCAACAGAAATAAT	ENST00000265872.6	+	18	2593_2594	c.2474_2475insTAGCCAAATTTCAACAGAAATAAT	c.(2473-2478)ccaaaa>ccTAGCCAAATTTCAACAGAAATAATaaaa	p.825_826PK>PSQISTEIIK	CCAR1_ENST00000535016.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK|CCAR1_ENST00000543719.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	825	Glu-rich.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						actgatgaaccaaaacccaaac	0.327																																						ENST00000265872.6		NA																	0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						c.(2473-2478)ccaaaa>ccTAGCCAAATTTCAACAGAAATAATaaaa		cell division cycle and apoptosis regulator 1																																				SO:0001652	inframe_insertion	55749				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding	g.chr10:70531138_70531139insTAGCCAAATTTCAACAGAAATAAT	AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	Exception_encountered	10.37:g.70531138_70531139insTAGCCAAATTTCAACAGAAATAAT	ENSP00000265872:p.Pro825_Lys826insSerGlnIleSerThrGluIleIle	True	False		Somatic	0				CCAR1_ENST00000543719.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK|CCAR1_ENST00000535016.1_In_Frame_Ins_p.810_811PK>PSQISTEIIK	p.825_826PK>PSQISTEIIK	NM_018237.2	NP_060707.2	WXS	Illumina HiSeq	Phase_I	Q8IX12	CCAR1_HUMAN			18	2593_2594	+			825			Glu-rich.		A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	In_Frame_Ins	INS	ENST00000265872.6	37	c.2474_2475insTAGCCAAATTTCAACAGAAATAAT	CCDS7282.1																																																																																				0.327	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048356.2	0	NM_018237		10:70531138
KCNMA1	3778	broad.mit.edu	37	10	78647200	78647201	+	In_Frame_Ins	INS	-	-	CCCCCCTTTTTTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:78647200_78647201insCCCCCCTTTTTTTTT	ENST00000286628.8	-	28	3533_3534	c.3534_3535insAAAAAAAAAGGGGGG	c.(3532-3537)tttgac>tttAAAAAAAAAGGGGGGgac	p.1178_1179FD>FKKKGGD	RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404857.1_In_Frame_Ins_p.1161_1162FD>FKKKGGD|KCNMA1_ENST00000372440.1_In_Frame_Ins_p.1120_1121FD>FKKKGGD|KCNMA1_ENST00000372443.1_In_Frame_Ins_p.1147_1148FD>FKKKGGD|KCNMA1_ENST00000286627.5_In_Frame_Ins_p.1120_1121FD>FKKKGGD|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000354353.5_In_Frame_Ins_p.1181_1182FD>FKKKGGD|KCNMA1_ENST00000406533.3_In_Frame_Ins_p.1182_1183FD>FKKKGGD|KCNMA1_ENST00000404771.3_In_Frame_Ins_p.1178_1179FD>FKKKGGD|RP11-443A13.5_ENST00000595702.1_RNA|RP11-443A13.5_ENST00000429850.2_RNA	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1178					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	GCATTGTGGTCAAACTGCATTA	0.569																																						ENST00000286627.5		NA																	0				breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68						c.(3358-3363)tttgac>tttAAAAAAAAAGGGGGGgac		potassium large conductance calcium-activated channel, subfamily M, alpha member 1	Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)																																			SO:0001652	inframe_insertion	3778				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity	g.chr10:78647200_78647201insCCCCCCTTTTTTTTT	U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.3534_3535insAAAAAAAAAGGGGGG	10.37:g.78647200_78647201insCCCCCCTTTTTTTTT	ENSP00000286628:p.Phe1178_Asp1179insLysLysLysGlyGly	True	False		Somatic	0				KCNMA1_ENST00000404771.3_In_Frame_Ins_p.1178_1179FD>FKKKGGD|KCNMA1_ENST00000286628.8_In_Frame_Ins_p.1178_1179FD>FKKKGGD|KCNMA1_ENST00000404857.1_In_Frame_Ins_p.1161_1162FD>FKKKGGD|KCNMA1_ENST00000406533.3_In_Frame_Ins_p.1182_1183FD>FKKKGGD|KCNMA1_ENST00000354353.5_In_Frame_Ins_p.1181_1182FD>FKKKGGD|KCNMA1_ENST00000372440.1_In_Frame_Ins_p.1120_1121FD>FKKKGGD|KCNMA1_ENST00000372443.1_In_Frame_Ins_p.1147_1148FD>FKKKGGD	p.1120_1121FD>FKKKGGD	NM_002247.3	NP_002238.2	WXS	Illumina HiSeq	Phase_I	Q12791	KCMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		27	4312_4313	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		1178					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	In_Frame_Ins	INS	ENST00000286628.8	37	c.3360_3361insAAAAAAAAAGGGGGG																																																																																					0.569	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	NM_002247		10:78647200
PAPSS2	9060	broad.mit.edu	37	10	89501117	89501118	+	Frame_Shift_Ins	INS	-	-	CATTGTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:89501117_89501118insCATTGTT	ENST00000361175.4	+	9	1566_1567	c.1197_1198insCATTGTT	c.(1198-1200)atgfs	p.M400fs	PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.M405fs|PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.M404fs	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	400					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AATGTAAAGAAATGAATGCTGG	0.426																																						ENST00000361175.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1198-1200)atgfs		3'-phosphoadenosine 5'-phosphosulfate synthase 2																																				SO:0001589	frameshift_variant	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89501117_89501118insCATTGTT	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	Exception_encountered	10.37:g.89501117_89501118insCATTGTT	ENSP00000354436:p.Met400fs	True	False		Somatic	0				PAPSS2_ENST00000427144.2_Frame_Shift_Ins_p.M404fs|PAPSS2_ENST00000456849.1_Frame_Shift_Ins_p.M405fs	p.M400fs	NM_004670.3	NP_004661.2	WXS	Illumina HiSeq	Phase_I	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	9	1566_1567	+		Melanoma(5;0.019)|Colorectal(252;0.123)	400					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Frame_Shift_Ins	INS	ENST00000361175.4	37	c.1197_1198insCATTGTT	CCDS7385.1																																																																																				0.426	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1	0			10:89501117
PKD2L1	9033	broad.mit.edu	37	10	102057321	102057336	+	Frame_Shift_Del	DEL	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	-	rs551643379		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	-	-	GTGGGAGAAGCCCCCC	GTGGGAGAAGCCCCCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:102057321_102057336delGTGGGAGAAGCCCCCC	ENST00000318222.3	-	5	1141_1156	c.759_774delGGGGGGCTTCTCCCAC	c.(757-774)ttggggggcttctcccacfs	p.LGGFSH253fs	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Frame_Shift_Del_p.LGGFSH253fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	253					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.G255fs*64(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCCTGCCCCAGTGGGAGAAGCCCCCCAACTCATCCT	0.583																																						ENST00000318222.3		NA																	1	Deletion - Frameshift(1)	p.G255fs*64(1)	large_intestine(1)	NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(757-774)ttggggggcttctcccacfs		polycystic kidney disease 2-like 1																																				SO:0001589	frameshift_variant	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102057321_102057336delGTGGGAGAAGCCCCCC	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.759_774delGGGGGGCTTCTCCCAC	10.37:g.102057321_102057336delGTGGGAGAAGCCCCCC	ENSP00000325296:p.Leu253fs	False	False		Somatic	1				PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Frame_Shift_Del_p.LGGFSH253fs	p.LGGFSH253fs	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	WXS	Illumina HiSeq	Phase_I	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	5	1141_1156	-		Colorectal(252;0.117)	253					O75972|Q5W039|Q9UP35|Q9UPA2	Frame_Shift_Del	DEL	ENST00000318222.3	37	c.759_774delGGGGGGCTTCTCCCAC	CCDS7492.1																																																																																				0.583	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	0	NM_016112		10:102057321
XPNPEP1	7511	broad.mit.edu	37	10	111637623	111637624	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:111637623_111637624insGA	ENST00000502935.1	-	14	1362_1363	c.1243_1244insTC	c.(1243-1245)caafs	p.Q415fs	XPNPEP1_ENST00000322238.8_Frame_Shift_Ins_p.Q415fs|XPNPEP1_ENST00000369680.4_Frame_Shift_Ins_p.Q372fs|XPNPEP1_ENST00000369683.1_Frame_Shift_Ins_p.Q301fs					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GTCTGCCTGTTGCCTGTAACAG	0.5																																						ENST00000502935.1		NA																	0				endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1243-1245)caafs		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble																																				SO:0001589	frameshift_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111637623_111637624insGA		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1243_1244insTC	10.37:g.111637623_111637624insGA	ENSP00000421566:p.Gln415fs	True	False		Somatic	0				XPNPEP1_ENST00000369680.4_Frame_Shift_Ins_p.Q372fs|XPNPEP1_ENST00000369683.1_Frame_Shift_Ins_p.Q301fs|XPNPEP1_ENST00000322238.8_Frame_Shift_Ins_p.Q415fs	p.Q415fs			WXS	Illumina HiSeq	Phase_I	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	14	1362_1363	-		Breast(234;0.174)	372						Frame_Shift_Ins	INS	ENST00000502935.1	37	c.1243_1244insTC	CCDS7560.2																																																																																				0.500	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2	0			10:111637623
ST5	6764	broad.mit.edu	37	11	8717060	8717061	+	In_Frame_Ins	INS	-	-	ATACTGGGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8717060_8717061insATACTGGGG	ENST00000534127.1	-	22	3713_3714	c.3328_3329insCCCCAGTAT	c.(3328-3330)gaa>gCCCCAGTATaa	p.1110_1110E>APV*	ST5_ENST00000357665.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000526757.1_In_Frame_Ins_p.690_690E>APV*|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000530438.1_In_Frame_Ins_p.690_690E>APV*|ST5_ENST00000526099.1_In_Frame_Ins_p.623_623E>APV*|ST5_ENST00000530991.1_In_Frame_Ins_p.582_582E>APV*|ST5_ENST00000313726.6_In_Frame_Ins_p.1110_1110E>APV*|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000534278.1_In_Frame_Ins_p.301_301E>APV*	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1110					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GTCTGGGAGTTCTTCTAAGTAC	0.485																																						ENST00000526099.1		NA																	0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(1867-1869)gaa>gCCCCAGTATaa		suppression of tumorigenicity 5																																				SO:0001652	inframe_insertion	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8717060_8717061insATACTGGGG	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.3328_3329insCCCCAGTAT	11.37:g.8717060_8717061insATACTGGGG	ENSP00000433528:p.Glu1110delinsAlaProVal*	False	False		Somatic	0				RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000313726.6_In_Frame_Ins_p.1110_1110E>APV*|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_In_Frame_Ins_p.301_301E>APV*|ST5_ENST00000530991.1_In_Frame_Ins_p.582_582E>APV*|ST5_ENST00000357665.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000534127.1_In_Frame_Ins_p.1110_1110E>APV*|ST5_ENST00000526757.1_In_Frame_Ins_p.690_690E>APV*|ST5_ENST00000530438.1_In_Frame_Ins_p.690_690E>APV*	p.623_623E>APV*			WXS	Illumina HiSeq	Phase_I	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	16	1969_1970	-			1110					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	In_Frame_Ins	INS	ENST00000534127.1	37	c.1867_1868insCCCCAGTAT	CCDS7791.1																																																																																				0.485	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	0	NM_005418		11:8717060
ST5	6764	broad.mit.edu	37	11	8752684	8752685	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8752684_8752685insA	ENST00000534127.1	-	6	537_538	c.152_153insT	c.(151-153)gaafs	p.E51fs	ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	51	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGCTGAGGTTTCACTATCACT	0.584																																						ENST00000534127.1		NA																	0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(151-153)gaafs		suppression of tumorigenicity 5																																				SO:0001589	frameshift_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752684_8752685insA	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.152_153insT	11.37:g.8752684_8752685insA	ENSP00000433528:p.Glu51fs	True	False		Somatic	0				ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs|ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	p.E51fs	NM_005418.3	NP_005409.3	WXS	Illumina HiSeq	Phase_I	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	537_538	-			51			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Frame_Shift_Ins	INS	ENST00000534127.1	37	c.152_153insT	CCDS7791.1																																																																																				0.584	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	0	NM_005418		11:8752684
ST5	6764	broad.mit.edu	37	11	8752685	8752686	+	Frame_Shift_Ins	INS	-	-	TTGGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:8752685_8752686insTTGGA	ENST00000534127.1	-	6	536_537	c.151_152insTCCAA	c.(151-153)gaafs	p.E51fs	ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	51	Pro-rich.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCTGAGGTTTCACTATCACTG	0.579																																						ENST00000534127.1		NA																	0				NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39						c.(151-153)gaafs		suppression of tumorigenicity 5																																				SO:0001589	frameshift_variant	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8752685_8752686insTTGGA	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.151_152insTCCAA	11.37:g.8752685_8752686insTTGGA	ENSP00000433528:p.Glu51fs	True	False		Somatic	0				ST5_ENST00000313726.6_Frame_Shift_Ins_p.E51fs|ST5_ENST00000357665.1_Frame_Shift_Ins_p.E51fs|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron	p.E51fs	NM_005418.3	NP_005409.3	WXS	Illumina HiSeq	Phase_I	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	6	536_537	-			51			Pro-rich.		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Frame_Shift_Ins	INS	ENST00000534127.1	37	c.151_152insTCCAA	CCDS7791.1																																																																																				0.579	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	0	NM_005418		11:8752685
USP47	55031	broad.mit.edu	37	11	11974420	11974421	+	Splice_Site	INS	-	-	CATCATTCTATTTCCTCTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:11974420_11974421insCATCATTCTATTTCCTCTG	ENST00000399455.2	+	26	3894		c.e26+2		USP47_ENST00000305481.6_Splice_Site|USP47_ENST00000527733.1_Splice_Site|USP47_ENST00000339865.5_Splice_Site|USP47_ENST00000539466.1_Splice_Site	NM_001282659.1	NP_001269588.1	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47						base-excision repair (GO:0006284)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell growth (GO:0030307)|response to drug (GO:0042493)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	ubiquitin-specific protease activity (GO:0004843)|WD40-repeat domain binding (GO:0071987)			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CGAGAGAAGGTAAGTTCATTTT	0.342																																						ENST00000339865.5		NA																	0				breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						c.e24+2		ubiquitin specific peptidase 47																																				SO:0001630	splice_region_variant	55031				base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding	g.chr11:11974420_11974421insCATCATTCTATTTCCTCTG	AK027362	CCDS41619.1, CCDS60725.1	11p15.2	2008-02-05	2005-08-08		ENSG00000170242	ENSG00000170242		"""Ubiquitin-specific peptidases"""	20076	protein-coding gene	gene with protein product		614460	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"", ""ubiquitin specific protease 47"""			12838346	Standard	XM_005252997		Approved		uc001mjr.3	Q96K76	OTTHUMG00000165685	ENST00000399455.2:c.3774+2->CATCATTCTATTTCCTCTG	11.37:g.11974420_11974421insCATCATTCTATTTCCTCTG		False	False		Somatic	0				USP47_ENST00000539466.1_Splice_Site|USP47_ENST00000527733.1_Splice_Site|USP47_ENST00000305481.6_Splice_Site|USP47_ENST00000399455.2_Splice_Site		NM_017944.3	NP_060414.3	WXS	Illumina HiSeq	Phase_I	Q96K76	UBP47_HUMAN		Epithelial(150;0.000339)	24	4273	+			NA					B3KXF5|E9PM46|Q658U0|Q86Y73|Q8TEP6|Q9BWI0|Q9NWN1	Splice_Site	INS	ENST00000399455.2	37																																																																																						0.342	USP47-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000385853.2	0	NM_017944	Intron	11:11974420
IMMP1L	196294	broad.mit.edu	37	11	31451923	31451924	+	IGR	INS	-	-	ACCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:31451923_31451924insACCC	ENST00000278200.1	-	0	795				DNAJC24_ENST00000465995.1_Frame_Shift_Ins_p.I143fs	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)						protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					TGTTCACTAATTATAGAACTCC	0.366																																						ENST00000465995.1		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						c.(424-429)attatafs		DnaJ (Hsp40) homolog, subfamily C, member 24																																				SO:0001628	intergenic_variant	120526				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding	g.chr11:31451923_31451924insACCC		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226		11.37:g.31451923_31451924insACCC		False	False		Somatic	0					p.I143fs	NM_181706.4	NP_859057.4	WXS	Illumina HiSeq	Phase_I	Q6P3W2	DJC24_HUMAN			5	531_532	+			142					D3DQZ7|Q96SH9	Frame_Shift_Ins	INS	ENST00000278200.1	37	c.425_426insACCC	CCDS7874.1																																																																																				0.366	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	0	NM_144981		11:31451923
IMMP1L	196294	broad.mit.edu	37	11	31451924	31451925	+	IGR	INS	-	-	TAAAAGGTGCAGAGTTTATTCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:31451924_31451925insTAAAAGGTGCAGAGTTTATTCC	ENST00000278200.1	-	0	795				DNAJC24_ENST00000465995.1_Frame_Shift_Ins_p.I143fs	NM_144981.1	NP_659418.1	Q96LU5	IMP1L_HUMAN	IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)						protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	serine-type peptidase activity (GO:0008236)			breast(1)|cervix(1)|large_intestine(1)|lung(4)	7	Lung SC(675;0.225)					GTTCACTAATTATAGAACTCCT	0.366																																						ENST00000465995.1		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|skin(1)|upper_aerodigestive_tract(2)	11						c.(427-429)atafs		DnaJ (Hsp40) homolog, subfamily C, member 24																																				SO:0001628	intergenic_variant	120526				protein folding		heat shock protein binding|metal ion binding|unfolded protein binding	g.chr11:31451924_31451925insTAAAAGGTGCAGAGTTTATTCC		CCDS7874.1	11p13	2014-07-30			ENSG00000148950	ENSG00000148950			26317	protein-coding gene	gene with protein product		612323					Standard	NM_144981		Approved	FLJ25059	uc001msy.1	Q96LU5	OTTHUMG00000166226		11.37:g.31451924_31451925insTAAAAGGTGCAGAGTTTATTCC		False	False		Somatic	0					p.I143fs	NM_181706.4	NP_859057.4	WXS	Illumina HiSeq	Phase_I	Q6P3W2	DJC24_HUMAN			5	532_533	+			142					D3DQZ7|Q96SH9	Frame_Shift_Ins	INS	ENST00000278200.1	37	c.426_427insTAAAAGGTGCAGAGTTTATTCC	CCDS7874.1																																																																																				0.366	IMMP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388496.1	0	NM_144981		11:31451924
MAGI3	260425	broad.mit.edu	37	1	114128213	114128214	+	In_Frame_Ins	INS	-	-	TTACTAATGTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:114128213_114128214insTTACTAATGTTG	ENST00000307546.9	+	4	833_834	c.758_759insTTACTAATGTTG	c.(757-762)aacgca>aaTTACTAATGTTGcgca	p.253_254NA>NY*CCA	MAGI3_ENST00000369615.1_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369611.4_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369617.4_In_Frame_Ins_p.253_254NA>NY*CCA	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	253	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCAGTGGAAACGCAGGTTTGT	0.356																																						ENST00000307546.9		NA																	0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(757-762)aacgca>aaTTACTAATGTTGcgca		membrane associated guanylate kinase, WW and PDZ domain containing 3																																				SO:0001652	inframe_insertion	260425				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	g.chr1:114128213_114128214insTTACTAATGTTG	AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	Exception_encountered	1.37:g.114128213_114128214insTTACTAATGTTG	ENSP00000304604:p.Asn253_Ala254insTyr*CysCys	True	False		Somatic	0				MAGI3_ENST00000369617.4_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369615.1_In_Frame_Ins_p.253_254NA>NY*CCA|MAGI3_ENST00000369611.4_In_Frame_Ins_p.253_254NA>NY*CCA	p.253_254NA>NY*CCA	NM_001142782.1	NP_001136254.1	WXS	Illumina HiSeq	Phase_I	Q5TCQ9	MAGI3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	833_834	+	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)	253			Guanylate kinase-like.		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	In_Frame_Ins	INS	ENST00000307546.9	37	c.758_759insTTACTAATGTTG	CCDS44196.1																																																																																				0.356	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000032429.1	0	NM_152900		1:114128213
CASQ2	845	broad.mit.edu	37	1	116243875	116243877	+	In_Frame_Del	DEL	TCG	TCG	-	rs7413162|rs368007942|rs397516641	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:116243875_116243877delTCG	ENST00000261448.5	-	11	1424_1426	c.1185_1187delCGA	c.(1183-1188)gacgat>gat	p.395_396DD>D	CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	395	Asp/Glu-rich (acidic).				cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		Ttcatcatcatcgtcatcactgt	0.404														7	0.00139776	0.0	0.0029	5008	,	,		24503	0.0		0.005	False		,,,				2504	0.0					ENST00000261448.5		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18						c.(1183-1188)gacgat>gat		calsequestrin 2 (cardiac muscle)																																				SO:0001651	inframe_deletion	845				heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding	g.chr1:116243875_116243877delTCG	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.1185_1187delCGA	1.37:g.116243875_116243877delTCG	ENSP00000261448:p.Asp398del	True	False		Somatic	1				CASQ2_ENST00000456138.2_In_Frame_Del_p.324_325DD>D	p.395_396DD>D	NM_001232.3	NP_001223.2	WXS	Illumina HiSeq	Phase_I	O14958	CASQ2_HUMAN		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)	11	1424_1426	-	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)	395			Asp/Glu-rich (acidic).		B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	In_Frame_Del	DEL	ENST00000261448.5	37	c.1185_1187delCGA	CCDS884.1																																																																																				0.404	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033091.1	0	NM_001232		1:116243875
CD2	914	broad.mit.edu	37	1	117297419	117297420	+	In_Frame_Ins	INS	-	-	TTACTGAGAGTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:117297419_117297420insTTACTGAGAGTC	ENST00000369478.3	+	2	336_337	c.228_229insTTACTGAGAGTC	c.(229-231)act>TTACTGAGAGTCact	p.76_77insLLRV	CD2_ENST00000369477.1_In_Frame_Ins_p.76_77insLLRV	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	76	Ig-like V-type.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|heterotypic cell-cell adhesion (GO:0034113)|leukocyte migration (GO:0050900)|membrane raft polarization (GO:0001766)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of myeloid dendritic cell activation (GO:0030887)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of T cell differentiation (GO:0045580)|single organismal cell-cell adhesion (GO:0016337)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AAGAGAAAGAGACTTTCAAGGA	0.307																																					NSCLC(14;263 555 26380 43512 51332)	ENST00000369478.3		NA																	0				NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18						c.(229-231)act>TTACTGAGAGTCact		CD2 molecule	Alefacept(DB00092)																																			SO:0001652	inframe_insertion	914				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity	g.chr1:117297419_117297420insTTACTGAGAGTC	BC033583	CCDS889.1	1p13	2013-01-11	2006-03-28		ENSG00000116824	ENSG00000116824		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1639	protein-coding gene	gene with protein product		186990	"""CD2 antigen (p50), sheep red blood cell receptor"""	SRBC		2437578	Standard	NM_001767		Approved		uc001egu.4	P06729	OTTHUMG00000022750	Exception_encountered	1.37:g.117297419_117297420insTTACTGAGAGTC	ENSP00000358490:p.Glu76_Thr77insLeuLeuArgVal	False	False		Somatic	0				CD2_ENST00000369477.1_In_Frame_Ins_p.76_77insLLRV	p.76_77insLLRV	NM_001767.3	NP_001758.2	WXS	Illumina HiSeq	Phase_I	P06729	CD2_HUMAN		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	2	336_337	+	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)	76			Ig-like V-type.		Q96TE5	In_Frame_Ins	INS	ENST00000369478.3	37	c.228_229insTTACTGAGAGTC	CCDS889.1																																																																																				0.307	CD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059039.2	0	NM_001767		1:117297419
NXF1	10482	broad.mit.edu	37	11	62564003	62564004	+	Frame_Shift_Ins	INS	-	-	AGCTTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:62564003_62564004insAGCTTAG	ENST00000532297.1	-	15	1843_1844	c.1214_1215insCTAAGCT	c.(1213-1215)gggfs	p.-405fs	NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.-405fs|NXF1_ENST00000533048.1_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CATCCAGGAGCCCTTGTCGGTC	0.51																																						ENST00000532297.1		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1213-1215)gggfs		nuclear RNA export factor 1																																				SO:0001589	frameshift_variant	10482				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding	g.chr11:62564003_62564004insAGCTTAG	AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.1214_1215insCTAAGCT	11.37:g.62564003_62564004insAGCTTAG	ENSP00000436679:p.Gly405fs	True	False		Somatic	0				NXF1_ENST00000531709.2_3'UTR|NXF1_ENST00000294172.2_Frame_Shift_Ins_p.-405fs	p.-405fs			WXS	Illumina HiSeq	Phase_I	Q9UBU9	NXF1_HUMAN			15	1843_1844	-			NA					B4E269|Q99799|Q9UQL2	Frame_Shift_Ins	INS	ENST00000532297.1	37	c.1214_1215insCTAAGCT	CCDS8037.1																																																																																				0.510	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395365.2	0	NM_006362		11:62564003
PELI3	246330	broad.mit.edu	37	11	66236318	66236319	+	Frame_Shift_Ins	INS	-	-	GATTATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:66236318_66236319insGATTATT	ENST00000320740.7	+	3	327_328	c.167_168insGATTATT	c.(166-171)ggaggtfs	p.G57fs	PELI3_ENST00000349459.6_Intron|MRPL11_ENST00000524576.1_5'Flank|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Frame_Shift_Ins_p.G57fs	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	57					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						tgtgaggaaggaggtgaggaaa	0.53																																						ENST00000320740.7		NA																	0				breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						c.(166-171)ggaggtfs		pellino E3 ubiquitin protein ligase family member 3																																				SO:0001589	frameshift_variant	246330					cytosol	protein binding	g.chr11:66236318_66236319insGATTATT	AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	Exception_encountered	11.37:g.66236318_66236319insGATTATT	ENSP00000322532:p.Gly57fs	True	False		Somatic	0				PELI3_ENST00000349459.6_Intron|PELI3_ENST00000524466.1_Frame_Shift_Ins_p.G57fs|PELI3_ENST00000531856.1_Intron	p.G57fs	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	WXS	Illumina HiSeq	Phase_I	Q8N2H9	PELI3_HUMAN			3	327_328	+			57					Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Frame_Shift_Ins	INS	ENST00000320740.7	37	c.167_168insGATTATT	CCDS31615.1																																																																																				0.530	PELI3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393226.1	0	NM_145065		11:66236318
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron			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				RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000530235.1_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
CCDC83	220047	broad.mit.edu	37	11	85627207	85627208	+	Frame_Shift_Ins	INS	-	-	TTAATTATGTATACATTTTGAACATATAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:85627207_85627208insTTAATTATGTATACATTTTGAACATATAC	ENST00000342404.3	+	10	1227_1228	c.1011_1012insTTAATTATGTATACATTTTGAACATATAC	c.(1012-1014)aacfs	p.N338fs	CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.N238fs|CCDC83_ENST00000280245.4_Frame_Shift_Ins_p.N369fs|RP11-90K17.2_ENST00000531414.1_RNA			Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	338										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAAAGAGGAAAACTCAGGCAC	0.376																																						ENST00000280245.4		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29						c.(1105-1107)aacfs		coiled-coil domain containing 83																																				SO:0001589	frameshift_variant	220047							g.chr11:85627207_85627208insTTAATTATGTATACATTTTGAACATATAC	AK124113	CCDS8271.1, CCDS66196.1	11q14.1-q14.2	2014-01-21			ENSG00000150676	ENSG00000150676			28535	protein-coding gene	gene with protein product						12477932	Standard	XM_005273842		Approved	MGC34732, FLJ42119, CT148	uc001pbg.1	Q8IWF9	OTTHUMG00000166978	Exception_encountered	11.37:g.85627207_85627208insTTAATTATGTATACATTTTGAACATATAC	ENSP00000344512:p.Asn338fs	True	False		Somatic	0				CCDC83_ENST00000376067.1_Frame_Shift_Ins_p.N238fs|CCDC83_ENST00000342404.3_Frame_Shift_Ins_p.N338fs	p.N369fs	NM_173556.3	NP_775827.2	WXS	Illumina HiSeq	Phase_I	Q8IWF9	CCD83_HUMAN			11	1616_1617	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	338					B2RA49|Q6X7T2|Q6ZVT5|Q8N9Y1	Frame_Shift_Ins	INS	ENST00000342404.3	37	c.1104_1105insTTAATTATGTATACATTTTGAACATATAC																																																																																					0.376	CCDC83-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392215.1	0	NM_173556		11:85627207
ANKRD49	54851	broad.mit.edu	37	11	94230103	94230104	+	In_Frame_Ins	INS	-	-	GTATTCCAT	rs560557753		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:94230103_94230104insGTATTCCAT	ENST00000544612.1	+	2	741_742	c.244_245insGTATTCCAT	c.(244-246)gct>gGTATTCCATct	p.82_82A>GIPS	ANKRD49_ENST00000544253.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000302755.4_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000540349.1_In_Frame_Ins_p.82_82A>GIPS	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	82					positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCTTTGGGCTGCTGAAAAAAAT	0.396																																					Melanoma(113;823 1621 4352 9582 22033)	ENST00000544253.1		NA																	0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12						c.(244-246)gct>gGTATTCCATct		ankyrin repeat domain 49																																				SO:0001652	inframe_insertion	54851				positive regulation of transcription, DNA-dependent			g.chr11:94230103_94230104insGTATTCCAT	AF025354	CCDS8300.1	11q21	2013-01-10				ENSG00000168876		"""Ankyrin repeat domain containing"""	25970	protein-coding gene	gene with protein product						11162141	Standard	NM_017704		Approved	FLJ20189, FGIF, GBIF	uc001pew.3	Q8WVL7		Exception_encountered	11.37:g.94230103_94230104insGTATTCCAT	ENSP00000440396:p.Ala82delinsGlyIleProSer	False	False		Somatic	0				ANKRD49_ENST00000540349.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000544612.1_In_Frame_Ins_p.82_82A>GIPS|ANKRD49_ENST00000302755.4_In_Frame_Ins_p.82_82A>GIPS	p.82_82A>GIPS			WXS	Illumina HiSeq	Phase_I	Q8WVL7	ANR49_HUMAN			2	362_363	+		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	82					Q8NDF2|Q96JE5|Q9NXK7	In_Frame_Ins	INS	ENST00000544612.1	37	c.244_245insGTATTCCAT	CCDS8300.1																																																																																				0.396	ANKRD49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396314.2	0	NM_017704		11:94230103
LOC643733	643733	broad.mit.edu	37	11	104776340	104776341	+	RNA	INS	-	-	AGAAGAATTTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:104776340_104776341insAGAAGAATTTGT	ENST00000532510.1	-	0	3091_3092																											TTTTTTGTTTACATTTTTGTTT	0.361																																						ENST00000532510.1		NA																	0					NA																																														0							g.chr11:104776340_104776341insAGAAGAATTTGT																													11.37:g.104776340_104776341insAGAAGAATTTGT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	3091_3092	-			NA						RNA	INS	ENST00000532510.1	37																																																																																						0.361	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1	0			11:104776340
OR6T1	219874	broad.mit.edu	37	11	123813849	123813850	+	In_Frame_Ins	INS	-	-	TCCGCAATGACA	rs76651236	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:123813849_123813850insTCCGCAATGACA	ENST00000321252.2	-	1	730_731	c.696_697insTGTCATTGCGGA	c.(694-699)gctgag>gctTGTCATTGCGGAgag	p.232_233AE>ACHCGE		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	232						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A232A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCTTCGCTCAGCAGCTGTAG	0.51																																						ENST00000321252.2		NA																	1	Substitution - coding silent(1)	p.A232A(1)	lung(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(694-699)gctgag>gctTGTCATTGCGGAgag		olfactory receptor, family 6, subfamily T, member 1																																				SO:0001652	inframe_insertion	219874				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123813849_123813850insTCCGCAATGACA	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.696_697insTGTCATTGCGGA	11.37:g.123813849_123813850insTCCGCAATGACA	ENSP00000325203:p.Ala232_Glu233insCysHisCysGly	False	False		Somatic	0					p.232_233AE>ACHCGE	NM_001005187.1	NP_001005187.1	WXS	Illumina HiSeq	Phase_I	Q8NGN1	OR6T1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	730_731	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	232					Q6IFE7	In_Frame_Ins	INS	ENST00000321252.2	37	c.696_697insTGTCATTGCGGA	CCDS31700.1																																																																																				0.510	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387264.1	0	NM_001005187		11:123813849
WNK1	65125	broad.mit.edu	37	12	970306	970307	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:970306_970307insG	ENST00000315939.6	+	7	2391_2392	c.1748_1749insG	c.(1747-1752)aagcagfs	p.Q584fs	WNK1_ENST00000340908.4_Frame_Shift_Ins_p.Q177fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.Q584fs	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	584					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.K583N(2)|p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GAAAAAAAAAAGCAGGAAGAGA	0.47																																					Colon(19;451 567 6672 12618 28860)	ENST00000315939.6		NA																	3	Substitution - Missense(2)|Unknown(1)	p.K583N(2)|p.?(1)	kidney(2)|skin(1)	breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1747-1752)aagcagfs		WNK lysine deficient protein kinase 1																																				SO:0001589	frameshift_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:970306_970307insG	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1749dupG	12.37:g.970307_970307dupG	ENSP00000313059:p.Gln584fs	True	False		Somatic	1				WNK1_ENST00000340908.4_Frame_Shift_Ins_p.Q177fs|WNK1_ENST00000537687.1_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.Q584fs|WNK1_ENST00000535572.1_Frame_Shift_Ins_p.Q584fs	p.Q584fs	NM_018979.3	NP_061852.3	WXS	Illumina HiSeq	Phase_I	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		7	2391_2392	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		584					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Frame_Shift_Ins	INS	ENST00000315939.6	37	c.1748_1749insG	CCDS8506.1																																																																																				0.470	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	0	NM_018979		12:970306
WNK1	65125	broad.mit.edu	37	12	970308	970309	+	In_Frame_Ins	INS	-	-	ATTGTAAAAAAAGTAGAGAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:970308_970309insATTGTAAAAAAAGTAGAGAAG	ENST00000315939.6	+	7	2393_2394	c.1750_1751insATTGTAAAAAAAGTAGAGAAG	c.(1750-1752)cag>cATTGTAAAAAAAGTAGAGAAGag	p.584_584Q>HCKKSREE	WNK1_ENST00000340908.4_In_Frame_Ins_p.177_177Q>HCKKSREE|WNK1_ENST00000537687.1_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000535572.1_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000530271.2_In_Frame_Ins_p.584_584Q>HCKKSREE	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	584					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAAAAAAAGCAGGAAGAGAGC	0.47																																					Colon(19;451 567 6672 12618 28860)	ENST00000315939.6		NA																	0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(1750-1752)cag>cATTGTAAAAAAAGTAGAGAAGag		WNK lysine deficient protein kinase 1																																				SO:0001652	inframe_insertion	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:970308_970309insATTGTAAAAAAAGTAGAGAAG	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	Exception_encountered	12.37:g.970308_970309insATTGTAAAAAAAGTAGAGAAG	ENSP00000313059:p.Gln584delinsHisCysLysLysSerArgGluGlu	False	False		Somatic	0				WNK1_ENST00000340908.4_In_Frame_Ins_p.177_177Q>HCKKSREE|WNK1_ENST00000537687.1_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000530271.2_In_Frame_Ins_p.584_584Q>HCKKSREE|WNK1_ENST00000535572.1_In_Frame_Ins_p.584_584Q>HCKKSREE	p.584_584Q>HCKKSREE	NM_018979.3	NP_061852.3	WXS	Illumina HiSeq	Phase_I	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		7	2393_2394	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		584					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	In_Frame_Ins	INS	ENST00000315939.6	37	c.1750_1751insATTGTAAAAAAAGTAGAGAAG	CCDS8506.1																																																																																				0.470	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	0	NM_018979		12:970308
FAM90A1	55138	broad.mit.edu	37	12	8374781	8374782	+	In_Frame_Ins	INS	-	-	ACG	rs71265055		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:8374781_8374782insACG	ENST00000538603.1	-	7	1589_1590	c.1031_1032insCGT	c.(1030-1032)acg>acCGTg	p.344_345insV	FAM90A1_ENST00000307435.6_In_Frame_Ins_p.344_345insV	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	344				T -> TV (in Ref. 1; BAA91593). {ECO:0000305}.			nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TCTGGGGTGACGTACGTGGTCC	0.673														2167	0.432708	0.0802	0.5101	5008	,	,		16505	0.5764		0.6968	False		,,,				2504	0.4346					ENST00000538603.1		NA																	0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(1030-1032)acg>acCGTg		family with sequence similarity 90, member A1				758,3506		60,638,1434						0.0	0.0		dbSNP_130	26	5796,2428		1994,1808,310	no	coding	FAM90A1	NM_018088.3		2054,2446,1744	A1A1,A1R,RR		29.5233,17.7767,47.5176				6554,5934				SO:0001652	inframe_insertion	55138						nucleic acid binding|zinc ion binding	g.chr12:8374781_8374782insACG	AK001270	CCDS31738.1	12p13.31	2011-08-31		2005-11-20	ENSG00000171847	ENSG00000171847			25526	protein-coding gene	gene with protein product		613041					Standard	NM_018088		Approved	FLJ10408	uc001qui.2	Q86YD7	OTTHUMG00000168641	ENST00000538603.1:c.1031_1032insCGT	12.37:g.8374781_8374782insACG	ENSP00000445418:p.Thr344_Ser345insVal	True	False		Somatic	0				FAM90A1_ENST00000307435.6_In_Frame_Ins_p.344_345insV	p.344_345insV	NM_018088.3	NP_060558.3	WXS	Illumina HiSeq	Phase_I	Q86YD7	F90A1_HUMAN		Kidney(36;0.0866)	7	1589_1590	-			344	T -> TV (in Ref. 1; BAA91593).				D3DUU9|Q9NVZ6	In_Frame_Ins	INS	ENST00000538603.1	37	c.1031_1032insCGT	CCDS31738.1																																																																																				0.673	FAM90A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400468.1	0	NM_018088		12:8374781
TAS2R7	50837	broad.mit.edu	37	12	10954459	10954460	+	Frame_Shift_Ins	INS	-	-	TCTATTCTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:10954459_10954460insTCTATTCTAA	ENST00000240687.2	-	1	766_767	c.710_711insTTAGAATAGA	c.(709-711)gtcfs	p.-237fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7						detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GGAAGGAAATGACAGCTTTCAG	0.5																																						ENST00000240687.2		NA																	0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(709-711)gtcfs		taste receptor, type 2, member 7																																				SO:0001589	frameshift_variant	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954459_10954460insTCTATTCTAA	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.710_711insTTAGAATAGA	12.37:g.10954459_10954460insTCTATTCTAA	ENSP00000240687:p.Val237fs	False	False		Somatic	0					p.-237fs	NM_023919.2	NP_076408.1	WXS	Illumina HiSeq	Phase_I	Q9NYW3	TA2R7_HUMAN			1	766_767	-			NA					Q645Y1	Frame_Shift_Ins	INS	ENST00000240687.2	37	c.710_711insTTAGAATAGA	CCDS8631.1																																																																																				0.500	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1	0			12:10954459
AQP6	363	broad.mit.edu	37	12	50369430	50369431	+	In_Frame_Ins	INS	-	-	CCACAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:50369430_50369431insCCACAG	ENST00000315520.5	+	4	1162_1163	c.825_826insCCACAG	c.(826-828)gcc>CCACAGgcc	p.275_276insPQ	AQP6_ENST00000551733.1_In_Frame_Ins_p.101_102insPQ	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	275					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CGGGTTCGGGAGCCGTGGAGAT	0.683																																						ENST00000551733.1		NA																	0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						c.(304-306)gcc>CCACAGgcc		aquaporin 6, kidney specific																																				SO:0001652	inframe_insertion	363				excretion|odontogenesis	integral to plasma membrane|transport vesicle membrane	anion channel activity|water channel activity	g.chr12:50369430_50369431insCCACAG	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	Exception_encountered	12.37:g.50369430_50369431insCCACAG	ENSP00000320247:p.Gly275_Ala276insProGln	False	False		Somatic	0				AQP6_ENST00000315520.5_In_Frame_Ins_p.275_276insPQ	p.101_102insPQ			WXS	Illumina HiSeq	Phase_I	Q13520	AQP6_HUMAN			6	801_802	+			275						In_Frame_Ins	INS	ENST00000315520.5	37	c.303_304insCCACAG	CCDS31798.1																																																																																				0.683	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257528.2	0	NM_001652, NM_053286		12:50369430
KRT82	3888	broad.mit.edu	37	12	52788940	52788941	+	Frame_Shift_Ins	INS	-	-	CTCCCTTT	rs375426458		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:52788940_52788941insCTCCCTTT	ENST00000257974.2	-	9	1437_1438	c.1360_1361insAAAGGGAG	c.(1360-1362)tgtfs	p.C454fs	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	454	Tail.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		GCTGACCCCACATGGCTCGTAC	0.639																																						ENST00000257974.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(1360-1362)tgtfs		keratin 82																																				SO:0001589	frameshift_variant	3888					keratin filament	protein binding|structural constituent of epidermis	g.chr12:52788940_52788941insCTCCCTTT	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1360_1361insAAAGGGAG	12.37:g.52788940_52788941insCTCCCTTT	ENSP00000257974:p.Cys454fs	False	False		Somatic	0				RP3-416H24.4_ENST00000547174.1_RNA	p.C454fs	NM_033033.3	NP_149022.3	WXS	Illumina HiSeq	Phase_I	Q9NSB4	KRT82_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.193)	9	1437_1438	-			454			Tail.			Frame_Shift_Ins	INS	ENST00000257974.2	37	c.1360_1361insAAAGGGAG	CCDS8826.1																																																																																				0.639	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405189.1	0	NM_033033		12:52788940
SMARCC2	6601	broad.mit.edu	37	12	56572288	56572289	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56572288_56572289insT	ENST00000267064.4	-	14	1295_1296	c.1209_1210insA	c.(1207-1212)aagggafs	p.G404fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.G404fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G404fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G404fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	404					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GTCTGCTCTCCCTTGTTCCCCG	0.525																																						ENST00000394023.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1207-1212)aagggafs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56572288_56572289insT	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1209_1210insA	12.37:g.56572288_56572289insT	ENSP00000267064:p.Gly404fs	True	False		Somatic	0				SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.G404fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.G404fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.G404fs	p.G404fs	NM_001130420.1	NP_001123892.1	WXS	Illumina HiSeq	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		14	1314_1315	-			404					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.1209_1210insA	CCDS8907.1																																																																																				0.525	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	0			12:56572288
SMARCC2	6601	broad.mit.edu	37	12	56572289	56572290	+	In_Frame_Ins	INS	-	-	CAAATAAGTTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56572289_56572290insCAAATAAGTTAT	ENST00000267064.4	-	14	1294_1295	c.1208_1209insATAACTTATTTG	c.(1207-1209)aag>aaATAACTTATTTGg	p.403_404ins*LIW	SMARCC2_ENST00000394023.3_In_Frame_Ins_p.403_404ins*LIW|SMARCC2_ENST00000550164.1_In_Frame_Ins_p.403_404ins*LIW|SMARCC2_ENST00000347471.4_In_Frame_Ins_p.403_404ins*LIW|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	403					ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCTGCTCTCCCTTGTTCCCCGT	0.525																																						ENST00000394023.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(1207-1209)aag>aaATAACTTATTTGg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001652	inframe_insertion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56572289_56572290insCAAATAAGTTAT	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.1208_1209insATAACTTATTTG	12.37:g.56572289_56572290insCAAATAAGTTAT	ENSP00000267064:p.Lys403_Gly404ins*LeuIleTrp	True	False		Somatic	0				SMARCC2_ENST00000550164.1_In_Frame_Ins_p.403_404ins*LIW|SMARCC2_ENST00000267064.4_In_Frame_Ins_p.403_404ins*LIW|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_In_Frame_Ins_p.403_404ins*LIW	p.403_404ins*LIW	NM_001130420.1	NP_001123892.1	WXS	Illumina HiSeq	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		14	1313_1314	-			403					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Ins	INS	ENST00000267064.4	37	c.1208_1209insATAACTTATTTG	CCDS8907.1																																																																																				0.525	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	0			12:56572289
SMARCC2	6601	broad.mit.edu	37	12	56574867	56574868	+	Frame_Shift_Ins	INS	-	-	AATTTAGCTGGTTATTGGAATTACG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:56574867_56574868insAATTTAGCTGGTTATTGGAATTACG	ENST00000267064.4	-	11	1060_1061	c.974_975insCGTAATTCCAATAACCAGCTAAATT	c.(973-975)actfs	p.-325fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.-325fs|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.-325fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.-325fs|SMARCC2_ENST00000550859.1_5'Flank|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2						ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GCTTTGACTTAGTGTAAGGTGT	0.51																																						ENST00000394023.3		NA																	0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(973-975)actfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56574867_56574868insAATTTAGCTGGTTATTGGAATTACG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.974_975insCGTAATTCCAATAACCAGCTAAATT	12.37:g.56574867_56574868insAATTTAGCTGGTTATTGGAATTACG	ENSP00000267064:p.Thr325fs	False	False		Somatic	0				SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.-325fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.-325fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.-325fs	p.-325fs	NM_001130420.1	NP_001123892.1	WXS	Illumina HiSeq	Phase_I	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		11	1079_1080	-			NA					F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.974_975insCGTAATTCCAATAACCAGCTAAATT	CCDS8907.1																																																																																				0.510	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1	0			12:56574867
NDUFA4L2	56901	broad.mit.edu	37	12	57630863	57630864	+	Frame_Shift_Ins	INS	-	-	ATTCTTCCCCTAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:57630863_57630864insATTCTTCCCCTAAG	ENST00000554503.1	-	1	257_258	c.5_6insCTTAGGGGAAGAAT	c.(4-6)gcafs	p.-2fs	NDUFA4L2_ENST00000557276.1_5'Flank|NDUFA4L2_ENST00000556732.1_Frame_Shift_Ins_p.-2fs|NDUFA4L2_ENST00000393825.1_Frame_Shift_Ins_p.-2fs			Q9NRX3	NUA4L_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2											lung(1)|prostate(1)	2						GACTGGCTCCTGCCATATCGTT	0.609																																						ENST00000554503.1		NA																	0				lung(1)|prostate(1)	2						c.(4-6)gcafs		NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4-like 2	NADH(DB00157)																																			SO:0001589	frameshift_variant	56901							g.chr12:57630863_57630864insATTCTTCCCCTAAG	BC011910	CCDS8935.1	12q13.3	2014-05-29			ENSG00000185633	ENSG00000185633			29836	protein-coding gene	gene with protein product							Standard	NM_020142		Approved	NUOMS, FLJ26118	uc001sno.3	Q9NRX3	OTTHUMG00000171275	ENST00000554503.1:c.5_6insCTTAGGGGAAGAAT	12.37:g.57630863_57630864insATTCTTCCCCTAAG	ENSP00000450664:p.Ala2fs	False	False		Somatic	0				NDUFA4L2_ENST00000556732.1_Frame_Shift_Ins_p.-2fs|NDUFA4L2_ENST00000393825.1_Frame_Shift_Ins_p.-2fs	p.-2fs			WXS	Illumina HiSeq	Phase_I	Q9NRX3	NUA4L_HUMAN			1	257_258	-			NA					Q6IAH9	Frame_Shift_Ins	INS	ENST00000554503.1	37	c.5_6insCTTAGGGGAAGAAT	CCDS8935.1																																																																																				0.609	NDUFA4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412744.1	0	NM_020142		12:57630863
IL22	50616	broad.mit.edu	37	12	68647271	68647272	+	De_novo_Start_OutOfFrame	INS	-	-	GTATACATCTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:68647271_68647272insGTATACATCTC	ENST00000538666.1	-	0	27_28				IL22_ENST00000328087.4_De_novo_Start_OutOfFrame			Q9GZX6	IL22_HUMAN	interleukin 22						acute-phase response (GO:0006953)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|response to glucocorticoid (GO:0051384)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-22 receptor binding (GO:0045518)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGGGGAAGGAGAACCTGGTCGA	0.47																																						ENST00000538666.1		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14								interleukin 22																																						50616				acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding	g.chr12:68647271_68647272insGTATACATCTC	AF279437	CCDS8982.1	12q15	2014-05-22			ENSG00000127318	ENSG00000127318		"""Interleukins and interleukin receptors"""	14900	protein-coding gene	gene with protein product	"""IL-10-related T-cell-derived inducible factor"""	605330				10954742, 10875937	Standard	NM_020525		Approved	ILTIF, IL-21, zcyto18, IL-TIF, IL-D110, TIFa, TIFIL-23, IL-22, MGC79382, MGC79384	uc001sty.1	Q9GZX6	OTTHUMG00000169119	ENST00000538666.1:c.-44->GAGATGTATAC	12.37:g.68647271_68647272insGTATACATCTC		False	False		Somatic	0				IL22_ENST00000328087.4_De_novo_Start_OutOfFrame				WXS	Illumina HiSeq	Phase_I	Q9GZX6	IL22_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)	0	27_28	-		Myeloproliferative disorder(1001;0.0255)	NA						Translation_Start_Site	INS	ENST00000538666.1	37		CCDS8982.1																																																																																				0.470	IL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402318.1	0	NM_020525		12:68647271
GIT2	9815	broad.mit.edu	37	12	110385123	110385124	+	Frame_Shift_Ins	INS	-	-	ACTAA	rs185965842	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:110385123_110385124insACTAA	ENST00000355312.3	-	15	1577_1578	c.1578_1579insTTAGT	c.(1576-1581)ctcccafs	p.P527fs	GIT2_ENST00000343646.5_Frame_Shift_Ins_p.P447fs|GIT2_ENST00000553118.1_Intron|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000354574.4_Frame_Shift_Ins_p.P479fs|GIT2_ENST00000360185.4_Frame_Shift_Ins_p.P477fs|GIT2_ENST00000457474.2_Frame_Shift_Ins_p.P479fs|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000551209.1_Frame_Shift_Ins_p.P476fs|GIT2_ENST00000361006.5_Frame_Shift_Ins_p.P527fs|GIT2_ENST00000356259.4_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	527					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TCTCCCATTGGGAGATATGGTT	0.569																																						ENST00000355312.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1576-1581)ctcccafs		G protein-coupled receptor kinase interacting ArfGAP 2																																				SO:0001589	frameshift_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110385123_110385124insACTAA	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1578_1579insTTAGT	12.37:g.110385123_110385124insACTAA	ENSP00000347464:p.Pro527fs	True	False		Somatic	0				GIT2_ENST00000354574.4_Frame_Shift_Ins_p.P479fs|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000457474.2_Frame_Shift_Ins_p.P479fs|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000551209.1_Frame_Shift_Ins_p.P476fs|GIT2_ENST00000360185.4_Frame_Shift_Ins_p.P477fs|GIT2_ENST00000343646.5_Frame_Shift_Ins_p.P447fs|GIT2_ENST00000361006.5_Frame_Shift_Ins_p.P527fs	p.P527fs	NM_057169.3	NP_476510.1	WXS	Illumina HiSeq	Phase_I	Q14161	GIT2_HUMAN			15	1577_1578	-			527					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Frame_Shift_Ins	INS	ENST00000355312.3	37	c.1578_1579insTTAGT	CCDS9138.1																																																																																				0.569	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	0	NM_057169		12:110385123
HCAR2	338442	broad.mit.edu	37	12	123187505	123187506	+	Frame_Shift_Ins	INS	-	-	AATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:123187505_123187506insAATT	ENST00000328880.5	-	1	384_385	c.325_326insAATT	c.(325-327)atgfs	p.M109fs	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	109					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CTGGCGGTTCATAGCCAACATG	0.564																																						ENST00000328880.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15						c.(325-327)atgfs		hydroxycarboxylic acid receptor 2	Mepenzolate(DB04843)|Niacin(DB00627)																																			SO:0001589	frameshift_variant	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187505_123187506insAATT	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.325_326insAATT	12.37:g.123187505_123187506insAATT	ENSP00000375066:p.Met109fs	False	False		Somatic	0				RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	p.M109fs	NM_177551.3	NP_808219.1	WXS	Illumina HiSeq	Phase_I	Q8TDS4	HCAR2_HUMAN			1	384_385	-			109					A0PJL5|A7LGG3	Frame_Shift_Ins	INS	ENST00000328880.5	37	c.325_326insAATT	CCDS9235.1																																																																																				0.564	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	0	NM_177551		12:123187505
TMEM132B	114795	broad.mit.edu	37	12	126138392	126138393	+	In_Frame_Ins	INS	-	-	TCACTGAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:126138392_126138393insTCACTGAAC	ENST00000299308.3	+	9	2381_2382	c.2373_2374insTCACTGAAC	c.(2374-2376)agt>TCACTGAACagt	p.792_792S>SLNS	TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLNS	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	792						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AATTCGAACCAAGTAGTGATGA	0.426																																						ENST00000299308.3		NA																	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2374-2376)agt>TCACTGAACagt		transmembrane protein 132B																																				SO:0001652	inframe_insertion	114795					integral to membrane		g.chr12:126138392_126138393insTCACTGAAC	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		Exception_encountered	12.37:g.126138392_126138393insTCACTGAAC	Exception_encountered	False	False		Somatic	0				TMEM132B_ENST00000535886.1_In_Frame_Ins_p.304_304S>SLNS	p.792_792S>SLNS	NM_052907.2	NP_443139.2	WXS	Illumina HiSeq	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2381_2382	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		792					A2RRG8|Q8NA73|Q96JN9|Q96PY1	In_Frame_Ins	INS	ENST00000299308.3	37	c.2373_2374insTCACTGAAC	CCDS41859.1																																																																																				0.426	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	0	NM_052907		12:126138392
MIPEP	4285	broad.mit.edu	37	13	24444305	24444306	+	In_Frame_Ins	INS	-	-	CAGTGATAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:24444305_24444306insCAGTGATAA	ENST00000382172.3	-	6	730_731	c.632_633insTTATCACTG	c.(631-633)aaa>aaTTATCACTGa	p.211_211K>NYH*		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	211					protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332																																						ENST00000382172.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(631-633)aaa>aaTTATCACTGa		mitochondrial intermediate peptidase																																				SO:0001652	inframe_insertion	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24444305_24444306insCAGTGATAA		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.632_633insTTATCACTG	13.37:g.24444305_24444306insCAGTGATAA	ENSP00000371607:p.Lys211delinsAsnTyrHis*	True	False		Somatic	0					p.211_211K>NYH*	NM_005932.3	NP_005923.2	WXS	Illumina HiSeq	Phase_I	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	6	730_731	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	211					Q5JV15|Q5T9Q9|Q96G65	In_Frame_Ins	INS	ENST00000382172.3	37	c.632_633insTTATCACTG	CCDS9303.1																																																																																				0.332	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1	0			13:24444305
KBTBD7	84078	broad.mit.edu	37	13	41767920	41767921	+	Frame_Shift_Ins	INS	-	-	GCAGAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:41767920_41767921insGCAGAAG	ENST00000379483.3	-	1	781_782	c.473_474insCTTCTGC	c.(472-474)gaafs	p.E158fs		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	158										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGCACAGGCTTCCCGCACATA	0.574																																						ENST00000379483.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(472-474)gaafs		kelch repeat and BTB (POZ) domain containing 7																																				SO:0001589	frameshift_variant	84078						protein binding	g.chr13:41767920_41767921insGCAGAAG	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.473_474insCTTCTGC	13.37:g.41767920_41767921insGCAGAAG	ENSP00000368797:p.Glu158fs	True	False		Somatic	0					p.E158fs	NM_032138.4	NP_115514.2	WXS	Illumina HiSeq	Phase_I	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	781_782	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	158					B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Frame_Shift_Ins	INS	ENST00000379483.3	37	c.473_474insCTTCTGC	CCDS9377.1																																																																																				0.574	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	0	NM_032138		13:41767920
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
AQP10	89872	broad.mit.edu	37	1	154296269	154296270	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:154296269_154296270insAA	ENST00000324978.3	+	5	734_735	c.694_695insAA	c.(694-696)cctfs	p.P232fs	AQP10_ENST00000484864.1_Frame_Shift_Ins_p.P232fs|ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	232					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCTGGGGTCCTGAAGTCTTC	0.619																																						ENST00000484864.1		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23						c.(694-696)cctfs		aquaporin 10																																				SO:0001589	frameshift_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154296269_154296270insAA	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	Exception_encountered	1.37:g.154296269_154296270insAA	ENSP00000318355:p.Pro232fs	False	False		Somatic	0				AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Frame_Shift_Ins_p.P232fs	p.P232fs			WXS	Illumina HiSeq	Phase_I	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	730_731	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		232					Q5VYD3|Q5VYD4|Q8NG70	Frame_Shift_Ins	INS	ENST00000324978.3	37	c.694_695insAA	CCDS1065.1																																																																																				0.619	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	0	NM_080429		1:154296269
TDRD3	81550	broad.mit.edu	37	13	61102576	61102578	+	In_Frame_Del	DEL	ATA	ATA	-	rs148917045|rs75684327	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	ATA	ATA	-	-	ATA	ATA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:61102576_61102578delATA	ENST00000196169.3	+	11	1726_1728	c.938_940delATA	c.(937-942)gataat>gat	p.N315del	TDRD3_ENST00000377894.2_In_Frame_Del_p.N315del|TDRD3_ENST00000377881.2_In_Frame_Del_p.N315del|TDRD3_ENST00000535286.1_In_Frame_Del_p.N408del	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	315					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GGAGTAAAAGATAATAATCATCT	0.384														604	0.120607	0.0325	0.1153	5008	,	,		16312	0.0129		0.1889	False		,,,				2504	0.2843				Colon(36;164 906 35820 50723)	ENST00000196169.3		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(937-942)gataat>gat		tudor domain containing 3			,,	224,4040		12,200,1920					,,	6.1	1.0		dbSNP_134	101	1585,6669		152,1281,2694	no	coding,coding,coding	TDRD3	NM_030794.2,NM_001146071.1,NM_001146070.1	,,	164,1481,4614	A1A1,A1R,RR		19.2028,5.2533,14.4512	,,	,,		1809,10709				SO:0001651	inframe_deletion	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61102576_61102578delATA	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.938_940delATA	13.37:g.61102579_61102581delATA	ENSP00000196169:p.Asn315del	False	False		Somatic	2				TDRD3_ENST00000535286.1_In_Frame_Del_p.N408del|TDRD3_ENST00000377894.2_In_Frame_Del_p.N315del|TDRD3_ENST00000377881.2_In_Frame_Del_p.N315del	p.N315del	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	WXS	Illumina HiSeq	Phase_I	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	11	1726_1728	+		Prostate(109;0.173)|Breast(118;0.174)	315					B2MWP9|Q53XA6|Q6P992	In_Frame_Del	DEL	ENST00000196169.3	37	c.938_940delATA	CCDS9441.1																																																																																				0.384	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	0	NM_030794		13:61102576
PYGL	5836	broad.mit.edu	37	14	51375640	51375641	+	Frame_Shift_Ins	INS	-	-	AAAACCAACAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:51375640_51375641insAAAACCAACAA	ENST00000216392.7	-	18	2542_2543	c.2210_2211insTTGTTGGTTTT	c.(2209-2211)ccafs	p.-737fs	PYGL_ENST00000544180.2_Frame_Shift_Ins_p.-703fs|PYGL_ENST00000532462.1_Frame_Shift_Ins_p.-737fs	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver						5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|necroptotic process (GO:0070266)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	AMP binding (GO:0016208)|ATP binding (GO:0005524)|bile acid binding (GO:0032052)|drug binding (GO:0008144)|glucose binding (GO:0005536)|glycogen phosphorylase activity (GO:0008184)|protein homodimerization activity (GO:0042803)|purine nucleobase binding (GO:0002060)|pyridoxal phosphate binding (GO:0030170)|vitamin binding (GO:0019842)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)	GCTTCAGCTCTGGAAGTGCCTC	0.421																																						ENST00000216392.7		NA																	0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25						c.(2209-2211)ccafs		phosphorylase, glycogen, liver	Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)																																			SO:0001589	frameshift_variant	5836				glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding	g.chr14:51375640_51375641insAAAACCAACAA		CCDS32080.1, CCDS53894.1	14q11.2-q24.3	2013-03-01	2008-07-31		ENSG00000100504	ENSG00000100504	2.4.1.1	"""Glycogen phosphorylases"""	9725	protein-coding gene	gene with protein product	"""Hers disease"", ""glycogen storage disease type VI"", ""glycogen phosphorylase, liver form"""	613741	"""phosphorylase, glycogen; liver"""			2877458	Standard	NM_002863		Approved		uc001wyu.3	P06737	OTTHUMG00000166596	ENST00000216392.7:c.2210_2211insTTGTTGGTTTT	14.37:g.51375640_51375641insAAAACCAACAA	ENSP00000216392:p.Pro737fs	False	False		Somatic	0				PYGL_ENST00000532462.1_Frame_Shift_Ins_p.-737fs|PYGL_ENST00000544180.2_Frame_Shift_Ins_p.-703fs	p.-737fs	NM_002863.4	NP_002854.3	WXS	Illumina HiSeq	Phase_I	P06737	PYGL_HUMAN			18	2542_2543	-	all_epithelial(31;0.00825)|Breast(41;0.148)		NA					A6NDQ4|B4DUB7|F5H816|O60567|O60752|O60913|Q501V9|Q641R5|Q96G82	Frame_Shift_Ins	INS	ENST00000216392.7	37	c.2210_2211insTTGTTGGTTTT	CCDS32080.1																																																																																				0.421	PYGL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390654.3	0	NM_002863		14:51375640
ACTR10	55860	broad.mit.edu	37	14	58698916	58698917	+	In_Frame_Ins	INS	-	-	AAGGATTTATTCTGAACTGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58698916_58698917insAAGGATTTATTCTGAACTGTA	ENST00000254286.4	+	12	1083_1084	c.1003_1004insAAGGATTTATTCTGAACTGTA	c.(1003-1005)gca>gAAGGATTTATTCTGAACTGTAca	p.335_335A>EGFILNCT		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	335					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATATAAAAAAGCACTTGGCACT	0.361																																						ENST00000254286.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1003-1005)gca>gAAGGATTTATTCTGAACTGTAca		actin-related protein 10 homolog (S. cerevisiae)																																				SO:0001652	inframe_insertion	55860					cytoplasm		g.chr14:58698916_58698917insAAGGATTTATTCTGAACTGTA	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	Exception_encountered	14.37:g.58698916_58698917insAAGGATTTATTCTGAACTGTA	ENSP00000254286:p.Ala335delinsGluGlyPheIleLeuAsnCysThr	False	False		Somatic	0				ACTR10_ENST00000554402.1_3'UTR	p.335_335A>EGFILNCT	NM_018477.2	NP_060947.1	WXS	Illumina HiSeq	Phase_I	Q9NZ32	ARP10_HUMAN			12	1083_1084	+			335					Q9H9Y5|Q9NWY2	In_Frame_Ins	INS	ENST00000254286.4	37	c.1003_1004insAAGGATTTATTCTGAACTGTA	CCDS32090.1																																																																																				0.361	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1	0			14:58698916
ACTR10	55860	broad.mit.edu	37	14	58698918	58698919	+	Frame_Shift_Ins	INS	-	-	AATAATG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58698918_58698919insAATAATG	ENST00000254286.4	+	12	1085_1086	c.1005_1006insAATAATG	c.(1006-1008)cttfs	p.L336fs		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	336					microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|dynactin complex (GO:0005869)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						ATAAAAAAGCACTTGGCACTAA	0.356																																						ENST00000254286.4		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						c.(1006-1008)cttfs		actin-related protein 10 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	55860					cytoplasm		g.chr14:58698918_58698919insAATAATG	AF220190	CCDS32090.1	14q23.1	2014-08-08			ENSG00000131966	ENSG00000131966			17372	protein-coding gene	gene with protein product						12857853	Standard	NM_018477		Approved	HARP11, ACTR11, Arp11	uc001xdf.3	Q9NZ32	OTTHUMG00000171049	Exception_encountered	14.37:g.58698918_58698919insAATAATG	ENSP00000254286:p.Leu336fs	False	False		Somatic	0				ACTR10_ENST00000554402.1_3'UTR	p.L336fs	NM_018477.2	NP_060947.1	WXS	Illumina HiSeq	Phase_I	Q9NZ32	ARP10_HUMAN			12	1085_1086	+			336					Q9H9Y5|Q9NWY2	Frame_Shift_Ins	INS	ENST00000254286.4	37	c.1005_1006insAATAATG	CCDS32090.1																																																																																				0.356	ACTR10-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411405.1	0			14:58698918
KIAA0586	9786	broad.mit.edu	37	14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATATACCATCTGGATCTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:58934617_58934618insGAAAAGTCTAATATACCATCTGGATCTTA	ENST00000556134.1	+	17	2648_2649	c.2374_2375insGAAAAGTCTAATATACCATCTGGATCTTA	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_58934618insGAAAAGTCTAATATACCATCTGGATCTTA	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_58934618insGAAAAGTCTAATATACCATCTGGATCTTA	ENSP00000452351:p.Asp792fs	False	False		Somatic	0				KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs	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_2288insGAAAAGTCTAATATACCATCTGGATCTTA	CCDS58321.1																																																																																				0.361	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	0	NM_014749		14:58934617
DAAM1	23002	broad.mit.edu	37	14	59834291	59834292	+	Frame_Shift_Ins	INS	-	-	TCAATGTTTCATGAGAATTCCACAATCAAATATAAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENST00000395125.1	+	24	3024_3025	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	c.(3001-3003)gaafs	p.E1001fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs|DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1001	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GGAGGAAGAAGAACGTCGAGCT	0.411																																						ENST00000395125.1		NA																	0				breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						c.(3001-3003)gaafs		dishevelled associated activator of morphogenesis 1																																				SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	Exception_encountered	14.37:g.59834291_59834292insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	ENSP00000378557:p.Glu1001fs	True	False		Somatic	0				DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.E1001fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.E991fs	p.E1001fs	NM_014992.2	NP_055807.1	WXS	Illumina HiSeq	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	24	3024_3025	+			1001			FH2.		Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Ins	INS	ENST00000395125.1	37	c.3001_3002insTCAATGTTTCATGAGAATTCCACAATCAAATATAAAT	CCDS9737.1																																																																																				0.411	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	NM_014992		14:59834291
ZFYVE26	23503	broad.mit.edu	37	14	68251142	68251143	+	Frame_Shift_Ins	INS	-	-	TGAATTTTTTATTCTTATATAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:68251142_68251143insTGAATTTTTTATTCTTATATAA	ENST00000347230.4	-	20	3672_3673	c.3534_3535insTTATATAAGAATAAAAAATTCA	c.(3532-3537)gaggtcfs	p.V1179fs	ZFYVE26_ENST00000555452.1_Frame_Shift_Ins_p.V1179fs	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1179					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCTACCTTGACCTCCACATGAT	0.47																																						ENST00000347230.4		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(3532-3537)gaggtcfs		zinc finger, FYVE domain containing 26																																				SO:0001589	frameshift_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68251142_68251143insTGAATTTTTTATTCTTATATAA	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.3534_3535insTTATATAAGAATAAAAAATTCA	14.37:g.68251142_68251143insTGAATTTTTTATTCTTATATAA	ENSP00000251119:p.Val1179fs	False	False		Somatic	0				ZFYVE26_ENST00000555452.1_Frame_Shift_Ins_p.V1179fs	p.V1179fs	NM_015346.3	NP_056161.2	WXS	Illumina HiSeq	Phase_I	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	20	3672_3673	-			1179					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Frame_Shift_Ins	INS	ENST00000347230.4	37	c.3534_3535insTTATATAAGAATAAAAAATTCA	CCDS9788.1																																																																																				0.470	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	0	NM_015346		14:68251142
EML1	2009	broad.mit.edu	37	14	100363601	100363602	+	Frame_Shift_Ins	INS	-	-	ATAAAATACCATATAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:100363601_100363602insATAAAATACCATATAAC	ENST00000262233.6	+	7	936_937	c.797_798insATAAAATACCATATAAC	c.(796-801)cattacfs	p.HY266fs	EML1_ENST00000334192.4_Frame_Shift_Ins_p.HY285fs|EML1_ENST00000327921.9_Frame_Shift_Ins_p.HY254fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	266	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CTGCAGAGGCATTACGCTGGCC	0.54																																						ENST00000262233.6		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(796-801)cattacfs		echinoderm microtubule associated protein like 1																																				SO:0001589	frameshift_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100363601_100363602insATAAAATACCATATAAC	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		Exception_encountered	14.37:g.100363601_100363602insATAAAATACCATATAAC	ENSP00000262233:p.His266fs	False	False		Somatic	0				EML1_ENST00000334192.4_Frame_Shift_Ins_p.HY285fs|EML1_ENST00000327921.9_Frame_Shift_Ins_p.HY254fs	p.HY266fs	NM_004434.2	NP_004425.2	WXS	Illumina HiSeq	Phase_I	O00423	EMAL1_HUMAN			7	936_937	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	266					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Frame_Shift_Ins	INS	ENST00000262233.6	37	c.797_798insATAAAATACCATATAAC	CCDS32155.1																																																																																				0.540	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	0	NM_001008707		14:100363601
EML1	2009	broad.mit.edu	37	14	100377875	100377876	+	In_Frame_Ins	INS	-	-	TCTAATCTCATCTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:100377875_100377876insTCTAATCTCATCTGA	ENST00000262233.6	+	13	1595_1596	c.1456_1457insTCTAATCTCATCTGA	c.(1456-1458)tct>tTCTAATCTCATCTGAct	p.486_486S>F*SHLT	EML1_ENST00000334192.4_In_Frame_Ins_p.505_505S>F*SHLT|EML1_ENST00000327921.9_In_Frame_Ins_p.474_474S>F*SHLT	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	486	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAAGCTCATTTCTTGGAGCGGA	0.416																																						ENST00000262233.6		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1456-1458)tct>tTCTAATCTCATCTGAct		echinoderm microtubule associated protein like 1																																				SO:0001652	inframe_insertion	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100377875_100377876insTCTAATCTCATCTGA	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		Exception_encountered	14.37:g.100377875_100377876insTCTAATCTCATCTGA	ENSP00000262233:p.Ser486delinsPhe*SerHisLeuThr	True	False		Somatic	0				EML1_ENST00000334192.4_In_Frame_Ins_p.505_505S>F*SHLT|EML1_ENST00000327921.9_In_Frame_Ins_p.474_474S>F*SHLT	p.486_486S>F*SHLT	NM_004434.2	NP_004425.2	WXS	Illumina HiSeq	Phase_I	O00423	EMAL1_HUMAN			13	1595_1596	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	486					Q86U15|Q8N536|Q8N5C4|Q8WWL6	In_Frame_Ins	INS	ENST00000262233.6	37	c.1456_1457insTCTAATCTCATCTGA	CCDS32155.1																																																																																				0.416	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	0	NM_001008707		14:100377875
DYNC1H1	1778	broad.mit.edu	37	14	102476730	102476731	+	In_Frame_Ins	INS	-	-	CTATCTTTAATAACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:102476730_102476731insCTATCTTTAATAACA	ENST00000360184.4	+	31	6503_6504	c.6339_6340insCTATCTTTAATAACA	c.(6340-6342)gag>CTATCTTTAATAACAgag	p.2113_2114insLSLIT		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2113					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGATAAAGAGGGAGAAAGAGGA	0.446																																						ENST00000360184.4		NA																	0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(6340-6342)gag>CTATCTTTAATAACAgag		dynein, cytoplasmic 1, heavy chain 1																																				SO:0001652	inframe_insertion	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476730_102476731insCTATCTTTAATAACA	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		Exception_encountered	14.37:g.102476730_102476731insCTATCTTTAATAACA	ENSP00000348965:p.Arg2113_Glu2114insLeuSerLeuIleThr	True	False		Somatic	0					p.2113_2114insLSLIT	NM_001376.4	NP_001367.2	WXS	Illumina HiSeq	Phase_I	Q14204	DYHC1_HUMAN			31	6503_6504	+			2113					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	In_Frame_Ins	INS	ENST00000360184.4	37	c.6339_6340insCTATCTTTAATAACA	CCDS9966.1																																																																																				0.446	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	0	NM_001376		14:102476730
DYNC1H1	1778	broad.mit.edu	37	14	102476731	102476732	+	In_Frame_Ins	INS	-	-	TATACTTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:102476731_102476732insTATACTTTA	ENST00000360184.4	+	31	6504_6505	c.6340_6341insTATACTTTA	c.(6340-6342)gag>gTATACTTTAag	p.2114_2114E>VYFK		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2114					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATAAAGAGGGAGAAAGAGGAA	0.446																																						ENST00000360184.4		NA																	0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(6340-6342)gag>gTATACTTTAag		dynein, cytoplasmic 1, heavy chain 1																																				SO:0001652	inframe_insertion	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102476731_102476732insTATACTTTA	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		Exception_encountered	14.37:g.102476731_102476732insTATACTTTA	ENSP00000348965:p.Glu2114delinsValTyrPheLys	True	False		Somatic	0					p.2114_2114E>VYFK	NM_001376.4	NP_001367.2	WXS	Illumina HiSeq	Phase_I	Q14204	DYHC1_HUMAN			31	6504_6505	+			2114					B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	In_Frame_Ins	INS	ENST00000360184.4	37	c.6340_6341insTATACTTTA	CCDS9966.1																																																																																				0.446	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	0	NM_001376		14:102476731
C14orf79	122616	broad.mit.edu	37	14	105455328	105455329	+	Frame_Shift_Ins	INS	-	-	TTGTGATAGAAATGAAATTTGTAATTGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:105455328_105455329insTTGTGATAGAAATGAAATTTGTAATTGAT	ENST00000547315.1	+	2	1111_1112	c.472_473insTTGTGATAGAAATGAAATTTGTAATTGAT	c.(472-474)acafs	p.T158fs	C14orf79_ENST00000550614.1_De_novo_Start_OutOfFrame|C14orf79_ENST00000549240.1_5'Flank|C14orf79_ENST00000549584.1_3'UTR	NM_174891.3	NP_777551.2	Q96F83	CN079_HUMAN	chromosome 14 open reading frame 79	158										breast(1)|endometrium(1)|lung(1)	3		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)			TCAAGAAATAACAGTCCAGCAG	0.376																																						ENST00000550614.1		NA																	0				breast(1)|endometrium(1)|lung(1)	3								chromosome 14 open reading frame 79																																				SO:0001589	frameshift_variant	122616							g.chr14:105455328_105455329insTTGTGATAGAAATGAAATTTGTAATTGAT		CCDS42000.1	14q32.33	2012-09-25			ENSG00000140104	ENSG00000140104			20126	protein-coding gene	gene with protein product							Standard	NM_174891		Approved		uc001ypy.1	Q96F83	OTTHUMG00000170474	Exception_encountered	14.37:g.105455328_105455329insTTGTGATAGAAATGAAATTTGTAATTGAT	ENSP00000450114:p.Thr158fs	False	False		Somatic	0				C14orf79_ENST00000547315.1_Frame_Shift_Ins_p.T158fs|C14orf79_ENST00000549584.1_3'UTR				WXS	Illumina HiSeq	Phase_I	Q96F83	CN079_HUMAN	all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181)		0	28_29	+		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	NA					B2RPK9|Q9BTP4	Translation_Start_Site	INS	ENST00000547315.1	37		CCDS42000.1																																																																																				0.376	C14orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409318.1	0	NM_174891		14:105455328
IGHV4-31	28396	broad.mit.edu	37	14	106805242	106805263	+	RNA	DEL	AGTCACAGAGCTCAGCTTCAGG	AGTCACAGAGCTCAGCTTCAGG	-	rs530027274|rs563549054|rs61740532|rs368486234|rs530609532|rs542101511	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGTCACAGAGCTCAGCTTCAGG	AGTCACAGAGCTCAGCTTCAGG	-	-	AGTCACAGAGCTCAGCTTCAGG	AGTCACAGAGCTCAGCTTCAGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:106805242_106805263delAGTCACAGAGCTCAGCTTCAGG	ENST00000438142.2	-	0	371_392									immunoglobulin heavy variable 4-31																		TGTCCGCGGCAGTCACAGAGCTCAGCTTCAGGGAGAACTGGT	0.559																																						ENST00000438142.2		NA																	0					NA																																														0							g.chr14:106805242_106805263delAGTCACAGAGCTCAGCTTCAGG	L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805242_106805263delAGTCACAGAGCTCAGCTTCAGG		False	False		Somatic	1								WXS	Illumina HiSeq	Phase_I					0	371_392	-			NA						RNA	DEL	ENST00000438142.2	37																																																																																						0.559	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325194.1	0	NG_001019		14:106805242
SNHG14	104472715	broad.mit.edu	37	15	25463971	25463972	+	RNA	INS	-	-	ATGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:25463971_25463972insATGCA	ENST00000424208.1	+	0	2994				SNHG14_ENST00000365067.1_RNA|SNHG14_ENST00000453082.2_RNA|SNORD115-27_ENST00000364430.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TGTCTCTGCACTCTAGTTTCCC	0.589																																						ENST00000424208.1		NA																	0					NA																																														0							g.chr15:25463971_25463972insATGCA			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463971_25463972insATGCA		False	False		Somatic	0				SNHG14_ENST00000453082.2_RNA		NR_003305.1		WXS	Illumina HiSeq	Phase_I					0	2994	+			NA						RNA	INS	ENST00000424208.1	37																																																																																						0.589	SNHG14-002	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126729.2	0			15:25463971
RYR3	6263	broad.mit.edu	37	15	34130706	34130707	+	Frame_Shift_Ins	INS	-	-	GTGTCCTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:34130706_34130707insGTGTCCTC	ENST00000389232.4	+	89	12595_12596	c.12525_12526insGTGTCCTC	c.(12526-12528)actfs	p.T4176fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.T4171fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4176					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAAAAGATGACTGCGAAGGA	0.5																																						ENST00000389232.4		NA																	0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(12526-12528)actfs		ryanodine receptor 3																																				SO:0001589	frameshift_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34130706_34130707insGTGTCCTC		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		Exception_encountered	15.37:g.34130706_34130707insGTGTCCTC	ENSP00000373884:p.Thr4176fs	False	False		Somatic	0				RYR3_ENST00000415757.3_Frame_Shift_Ins_p.T4171fs	p.T4176fs	NM_001036.3	NP_001027.3	WXS	Illumina HiSeq	Phase_I	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	89	12595_12596	+		all_lung(180;7.18e-09)	4176					O15175|Q15412	Frame_Shift_Ins	INS	ENST00000389232.4	37	c.12525_12526insGTGTCCTC	CCDS45210.1																																																																																				0.500	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1	0			15:34130706
BLOC1S6	26258	broad.mit.edu	37	15	45897711	45897712	+	Splice_Site	INS	-	-	AT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:45897711_45897712insAT	ENST00000220531.3	+	4	719_720	c.398_399insAT	c.(397-402)aaaaaa>aaATaaaa	p.K134fs	RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000565323.1_Splice_Site_p.K139fs|BLOC1S6_ENST00000562384.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000567461.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000568816.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000564765.1_Intron|BLOC1S6_ENST00000565409.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000565216.1_Splice_Site_p.K93fs	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	134					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										TCAAAGTTAAAAGTGAGTTGAA	0.282																																						ENST00000568816.1		NA																	0					NA						c.(106-111)aaaaaa>aaATaaaa		biogenesis of lysosomal organelles complex-1, subunit 6, pallidin																																				SO:0001630	splice_region_variant	26258							g.chr15:45897711_45897712insAT	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.399+1->AT	15.37:g.45897711_45897712insAT		True	False		Somatic	0				BLOC1S6_ENST00000220531.3_Splice_Site_p.K134fs|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000564765.1_Intron|BLOC1S6_ENST00000565409.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000567740.1_3'UTR|BLOC1S6_ENST00000565216.1_Splice_Site_p.K93fs|BLOC1S6_ENST00000562384.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000567461.1_Splice_Site_p.K37fs|BLOC1S6_ENST00000565323.1_Splice_Site_p.K139fs	p.K37fs			WXS	Illumina HiSeq	Phase_I					5	696_697	+			NA						Splice_Site	INS	ENST00000220531.3	37	c.107_108insAT	CCDS10126.1																																																																																				0.282	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	0	NM_012388	Frame_Shift_Ins	15:45897711
BLOC1S6	26258	broad.mit.edu	37	15	45897713	45897714	+	Splice_Site	INS	-	-	ACTAAAATATCAAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:45897713_45897714insACTAAAATATCAAAA	ENST00000220531.3	+	4	720		c.e4+1		RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000565323.1_Splice_Site|BLOC1S6_ENST00000562384.1_Splice_Site|BLOC1S6_ENST00000567461.1_Splice_Site|BLOC1S6_ENST00000568816.1_Splice_Site|BLOC1S6_ENST00000564765.1_Intron|BLOC1S6_ENST00000565409.1_Splice_Site|BLOC1S6_ENST00000567740.1_Splice_Site|BLOC1S6_ENST00000565216.1_Splice_Site	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin						anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										AAAGTTAAAAGTGAGTTGAAAA	0.287																																						ENST00000568816.1		NA																	0					NA						c.e5+1		biogenesis of lysosomal organelles complex-1, subunit 6, pallidin																																				SO:0001630	splice_region_variant	26258							g.chr15:45897713_45897714insACTAAAATATCAAAA	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.399+1->ACTAAAATATCAAAA	15.37:g.45897713_45897714insACTAAAATATCAAAA		False	False		Somatic	0				BLOC1S6_ENST00000220531.3_Splice_Site|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000564765.1_Intron|BLOC1S6_ENST00000565409.1_Splice_Site|BLOC1S6_ENST00000567740.1_Splice_Site|BLOC1S6_ENST00000565216.1_Splice_Site|BLOC1S6_ENST00000562384.1_Splice_Site|BLOC1S6_ENST00000567461.1_Splice_Site|BLOC1S6_ENST00000565323.1_Splice_Site				WXS	Illumina HiSeq	Phase_I					5	697	+			NA						Splice_Site	INS	ENST00000220531.3	37		CCDS10126.1																																																																																				0.287	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	0	NM_012388	Intron	15:45897713
HERC1	8925	broad.mit.edu	37	15	64021813	64021814	+	Frame_Shift_Ins	INS	-	-	GGAACTTTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:64021813_64021814insGGAACTTTTTT	ENST00000443617.2	-	15	2990_2991	c.2903_2904insAAAAAAGTTCC	c.(2902-2904)gatfs	p.D968fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	968					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTAGAAATTTATCACTATTCTT	0.366																																						ENST00000443617.2		NA																	0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(2902-2904)gatfs		HECT and RLD domain containing E3 ubiquitin protein ligase family member 1																																				SO:0001589	frameshift_variant	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64021813_64021814insGGAACTTTTTT	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.2903_2904insAAAAAAGTTCC	15.37:g.64021813_64021814insGGAACTTTTTT	ENSP00000390158:p.Asp968fs	False	False		Somatic	0					p.D968fs	NM_003922.3	NP_003913.3	WXS	Illumina HiSeq	Phase_I	Q15751	HERC1_HUMAN			15	2990_2991	-			968					Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	c.2903_2904insAAAAAAGTTCC	CCDS45277.1																																																																																				0.366	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	0	NM_003922		15:64021813
CELF6	60677	broad.mit.edu	37	15	72580718	72580719	+	In_Frame_Ins	INS	-	-	TGATTTCCTGAGATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr15:72580718_72580719insTGATTTCCTGAGATT	ENST00000569547.1	-	11	1319_1320	c.1248_1249insAATCTCAGGAAATCA	c.(1246-1251)ttcctg>ttcAATCTCAGGAAATCActg	p.416_417FL>FNLRKSL	CELF6_ENST00000567083.1_In_Frame_Ins_p.389_390FL>FNLRKSL|CELF6_ENST00000539635.1_In_Frame_Ins_p.277_278FL>FNLRKSL|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000543764.2_In_Frame_Ins_p.279_280FL>FNLRKSL|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_In_Frame_Ins_p.416_417FL>FNLRKSL|CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000395258.2_In_Frame_Ins_p.303_304FL>FNLRKSL			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	416	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CCAAAGGGCAGGAATGTCTGTA	0.53																																						ENST00000543764.2		NA																	0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						c.(835-840)ttcctg>ttcAATCTCAGGAAATCActg		CUGBP, Elav-like family member 6																																				SO:0001652	inframe_insertion	60677				mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr15:72580718_72580719insTGATTTCCTGAGATT	AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1248_1249insAATCTCAGGAAATCA	15.37:g.72580718_72580719insTGATTTCCTGAGATT	ENSP00000454749:p.Phe416_Leu417insAsnLeuArgLysSer	False	False		Somatic	0				RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000539635.1_In_Frame_Ins_p.277_278FL>FNLRKSL|CELF6_ENST00000567083.1_In_Frame_Ins_p.389_390FL>FNLRKSL|CELF6_ENST00000395258.2_In_Frame_Ins_p.303_304FL>FNLRKSL|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000287202.5_In_Frame_Ins_p.416_417FL>FNLRKSL	p.279_280FL>FNLRKSL	NM_001172685.1	NP_001166156.1	WXS	Illumina HiSeq	Phase_I	Q96J87	CELF6_HUMAN			9	1011_1012	-			416			Ala-rich.		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	In_Frame_Ins	INS	ENST00000569547.1	37	c.837_838insAATCTCAGGAAATCA	CCDS10242.1																																																																																				0.530	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000420180.1	0	NM_052840		15:72580718
HMOX2	3163	broad.mit.edu	37	16	4559693	4559698	+	In_Frame_Del	DEL	TCCAGT	TCCAGT	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TCCAGT	TCCAGT	-	-	TCCAGT	TCCAGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:4559693_4559698delTCCAGT	ENST00000570646.1	+	6	1492_1497	c.887_892delTCCAGT	c.(886-894)ctccagttc>ctc	p.QF297del	HMOX2_ENST00000219700.6_In_Frame_Del_p.QF297del|HMOX2_ENST00000406590.2_In_Frame_Del_p.QF297del|HMOX2_ENST00000414777.1_In_Frame_Del_p.QF297del|HMOX2_ENST00000575120.1_In_Frame_Del_p.QF268del|HMOX2_ENST00000398595.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000458134.3_In_Frame_Del_p.QF297del	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	297					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						AAGCCCAGCCTCCAGTTCATCCTGGC	0.607																																						ENST00000570646.1		NA																	0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(886-894)ctccagttc>ctc		heme oxygenase (decycling) 2	NADH(DB00157)		,,,	1,4261		0,1,2130					,,,	1.8	1.0			74	20,8234		0,20,4107	no	coding,coding,coding,coding	HMOX2	NM_002134.3,NM_001127206.1,NM_001127205.1,NM_001127204.1	,,,	0,21,6237	A1A1,A1R,RR		0.2423,0.0235,0.1678	,,,	,,,		21,12495				SO:0001651	inframe_deletion	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4559693_4559698delTCCAGT		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.887_892delTCCAGT	16.37:g.4559693_4559698delTCCAGT	ENSP00000459214:p.Gln297_Phe298del	False	False		Somatic	1				HMOX2_ENST00000458134.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000414777.1_In_Frame_Del_p.QF297del|HMOX2_ENST00000406590.2_In_Frame_Del_p.QF297del|HMOX2_ENST00000575120.1_In_Frame_Del_p.QF268del|HMOX2_ENST00000398595.3_In_Frame_Del_p.QF297del|HMOX2_ENST00000219700.6_In_Frame_Del_p.QF297del	p.QF297del	NM_002134.3	NP_002125.3	WXS	Illumina HiSeq	Phase_I	P30519	HMOX2_HUMAN			6	1492_1497	+			297					A8MT35|D3DUD5|I3L430|O60605	In_Frame_Del	DEL	ENST00000570646.1	37	c.887_892delTCCAGT	CCDS10517.1																																																																																				0.607	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2	0			16:4559693
USP7	7874	broad.mit.edu	37	16	9015098	9015099	+	Frame_Shift_Ins	INS	-	-	AGTCCTTTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:9015098_9015099insAGTCCTTTAT	ENST00000344836.4	-	4	635_636	c.437_438insATAAAGGACT	c.(436-438)gatfs	p.D146fs	USP7_ENST00000566224.1_5'Flank|USP7_ENST00000535863.1_Frame_Shift_Ins_p.D47fs|USP7_ENST00000381886.4_Frame_Shift_Ins_p.D130fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	146	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Necessary for nuclear localization.				maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACGACTTTTCATCATCTCTGTA	0.356																																						ENST00000344836.4		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						c.(436-438)gatfs		ubiquitin specific peptidase 7 (herpes virus-associated)																																				SO:0001589	frameshift_variant	7874				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr16:9015098_9015099insAGTCCTTTAT	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.437_438insATAAAGGACT	16.37:g.9015098_9015099insAGTCCTTTAT	ENSP00000343535:p.Asp146fs	False	False		Somatic	0				USP7_ENST00000381886.4_Frame_Shift_Ins_p.D130fs|USP7_ENST00000535863.1_Frame_Shift_Ins_p.D47fs	p.D146fs	NM_003470.2	NP_003461.2	WXS	Illumina HiSeq	Phase_I	Q93009	UBP7_HUMAN			4	635_636	-			146			Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.		A6NMY8|B7Z815|H0Y3G8	Frame_Shift_Ins	INS	ENST00000344836.4	37	c.437_438insATAAAGGACT	CCDS32385.1																																																																																				0.356	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434268.2	0			16:9015098
DEXI	28955	broad.mit.edu	37	16	11035750	11035751	+	In_Frame_Ins	INS	-	-	ACC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:11035750_11035751insACC	ENST00000331808.4	-	1	566_567	c.112_113insGGT	c.(112-114)gtg>gGGTtg	p.38_38V>GL	CLEC16A_ENST00000409552.3_5'Flank|CLEC16A_ENST00000409790.1_5'Flank|RP11-876N24.5_ENST00000570440.1_RNA|DEXI_ENST00000469379.1_5'UTR|RP11-876N24.4_ENST00000573379.1_RNA	NM_014015.3	NP_054734.2	O95424	DEXI_HUMAN	Dexi homolog (mouse)	38										endometrium(2)|lung(1)	3						CAGGATCAGCACATTGACGAAG	0.653																																						ENST00000331808.4		NA																	0				endometrium(2)|lung(1)	3						c.(112-114)gtg>gGGTtg		Dexi homolog (mouse)																																				SO:0001652	inframe_insertion	28955							g.chr16:11035750_11035751insACC	AF108145	CCDS10545.1	16p13.13	2010-02-17			ENSG00000182108	ENSG00000182108			13267	protein-coding gene	gene with protein product	"""dexamethasone-induced transcript"""					11306815, 11472984	Standard	NM_014015		Approved	MYLE	uc002dal.3	O95424	OTTHUMG00000129785	ENST00000331808.4:c.112_113insGGT	16.37:g.11035750_11035751insACC	ENSP00000330509:p.Val38delinsGlyLeu	False	False		Somatic	0				RP11-876N24.4_ENST00000573379.1_RNA|DEXI_ENST00000469379.1_5'UTR	p.38_38V>GL	NM_014015.3	NP_054734.2	WXS	Illumina HiSeq	Phase_I	O95424	DEXI_HUMAN			1	566_567	-			38					B2RAA7	In_Frame_Ins	INS	ENST00000331808.4	37	c.112_113insGGT	CCDS10545.1																																																																																				0.653	DEXI-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252009.1	0	NM_014015		16:11035750
UAP1	6675	broad.mit.edu	37	1	162551155	162551156	+	Frame_Shift_Ins	INS	-	-	ATCAAAATCCATCATAAAGGTAACACAAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:162551155_162551156insATCAAAATCCATCATAAAGGTAACACAAAGA	ENST00000367925.1	+	4	772_773	c.740_741insATCAAAATCCATCATAAAGGTAACACAAAGA	c.(739-744)attcatfs	p.H248fs	UAP1_ENST00000367924.1_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000271469.3_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000367926.4_Frame_Shift_Ins_p.H248fs			Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	248					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|UDP-N-acetylglucosamine diphosphorylase activity (GO:0003977)			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			ATTTGGAGCATTCATGTCTATT	0.436																																						ENST00000367926.4		NA																	0				breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22						c.(739-744)attcatfs		UDP-N-acteylglucosamine pyrophosphorylase 1																																				SO:0001589	frameshift_variant	6675				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity	g.chr1:162551155_162551156insATCAAAATCCATCATAAAGGTAACACAAAGA	AB011004	CCDS1240.1	1q23.2	2014-07-31	2014-07-31		ENSG00000117143	ENSG00000117143	2.7.7.23		12457	protein-coding gene	gene with protein product		602862		SPAG2		9603950, 8025165	Standard	NM_003115		Approved	AGX1, AgX	uc001gce.4	Q16222	OTTHUMG00000034419	Exception_encountered	1.37:g.162551155_162551156insATCAAAATCCATCATAAAGGTAACACAAAGA	ENSP00000356902:p.His248fs	False	False		Somatic	0				UAP1_ENST00000367925.1_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000271469.3_Frame_Shift_Ins_p.H248fs|UAP1_ENST00000367924.1_Frame_Shift_Ins_p.H248fs	p.H248fs	NM_003115.4	NP_003106.3	WXS	Illumina HiSeq	Phase_I	Q16222	UAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.126)		5	1042_1043	+	all_hematologic(112;0.115)		248					B2R6R8|Q5VTA9|Q5VTB0|Q5VTB1|Q96GM2	Frame_Shift_Ins	INS	ENST00000367925.1	37	c.740_741insATCAAAATCCATCATAAAGGTAACACAAAGA																																																																																					0.436	UAP1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000083203.1	0	NM_003115		1:162551155
DDR2	4921	broad.mit.edu	37	1	162749980	162749981	+	Frame_Shift_Ins	INS	-	-	CGGGGGAAAGGGAAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:162749980_162749981insCGGGGGAAAGGGAAGT	ENST00000367922.3	+	19	2950_2951	c.2512_2513insCGGGGGAAAGGGAAGT	c.(2512-2514)aacfs	p.N838fs	DDR2_ENST00000367921.3_Frame_Shift_Ins_p.N838fs|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	AGATACGAAGAACCGTCCCTCA	0.5																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2		NA																	0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(2512-2514)aacfs		discoidin domain receptor tyrosine kinase 2																																				SO:0001589	frameshift_variant	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162749980_162749981insCGGGGGAAAGGGAAGT	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	Exception_encountered	1.37:g.162749980_162749981insCGGGGGAAAGGGAAGT	ENSP00000356899:p.Asn838fs	False	False		Somatic	0				DDR2_ENST00000367921.3_Frame_Shift_Ins_p.N838fs	p.N838fs	NM_001014796.1	NP_001014796.1	WXS	Illumina HiSeq	Phase_I	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		19	2950_2951	+	all_hematologic(112;0.115)		838			Protein kinase.		Q7Z730	Frame_Shift_Ins	INS	ENST00000367922.3	37	c.2512_2513insCGGGGGAAAGGGAAGT	CCDS1241.1																																																																																				0.500	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	0	NM_006182		1:162749980
DCAF6	55827	broad.mit.edu	37	1	167944217	167944218	+	In_Frame_Ins	INS	-	-	AGAAAGCAGTTAATGGTAACTTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:167944217_167944218insAGAAAGCAGTTAATGGTAACTTAT	ENST00000312263.6	+	4	606_607	c.402_403insAGAAAGCAGTTAATGGTAACTTAT	c.(403-405)tgc>AGAAAGCAGTTAATGGTAACTTATtgc	p.134_135insRKQLMVTY	DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_In_Frame_Ins_p.134_135insRKQLMVTY|DCAF6_ENST00000432587.2_In_Frame_Ins_p.103_104insRKQLMVTY|DCAF6_ENST00000367840.3_In_Frame_Ins_p.134_135insRKQLMVTY	NM_001017977.2	NP_001017977.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	134					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						CCAACAGACAATGCCAATTTAC	0.307																																						ENST00000367840.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(403-405)tgc>AGAAAGCAGTTAATGGTAACTTATtgc		DDB1 and CUL4 associated factor 6																																				SO:0001652	inframe_insertion	55827				positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity	g.chr1:167944217_167944218insAGAAAGCAGTTAATGGTAACTTAT	AL136738	CCDS1267.2, CCDS30933.1, CCDS55657.1, CCDS55658.1	1q23.3	2013-01-09	2009-07-17	2009-07-17	ENSG00000143164	ENSG00000143164		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	30002	protein-coding gene	gene with protein product		610494	"""IQ motif and WD repeats 1"""	IQWD1		12032826	Standard	NM_018442		Approved	PC326	uc001gex.3	Q58WW2	OTTHUMG00000034572	Exception_encountered	1.37:g.167944217_167944218insAGAAAGCAGTTAATGGTAACTTAT	ENSP00000311949:p.Gln134_Cys135insArgLysGlnLeuMetValThrTyr	False	False		Somatic	0				DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000312263.6_In_Frame_Ins_p.134_135insRKQLMVTY|DCAF6_ENST00000432587.2_In_Frame_Ins_p.103_104insRKQLMVTY|DCAF6_ENST00000367843.3_In_Frame_Ins_p.134_135insRKQLMVTY	p.134_135insRKQLMVTY	NM_001198956.1	NP_001185885.1	WXS	Illumina HiSeq	Phase_I	Q58WW2	DCAF6_HUMAN			4	496_497	+			134					A2A295|B4DNB8|Q7L8I0|Q8IXH3|Q8TB19	In_Frame_Ins	INS	ENST00000312263.6	37	c.402_403insAGAAAGCAGTTAATGGTAACTTAT	CCDS30933.1																																																																																				0.307	DCAF6-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083661.2	0	NM_018442		1:167944217
ATP1B1	481	broad.mit.edu	37	1	169096638	169096639	+	In_Frame_Ins	INS	-	-	CTGGGC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169096638_169096639insCTGGGC	ENST00000367816.1	+	5	1088_1089	c.559_560insCTGGGC	c.(559-561)aaa>aCTGGGCaa	p.187_187K>TGQ	ATP1B1_ENST00000367813.3_In_Frame_Ins_p.179_179K>TGQ|ATP1B1_ENST00000367815.4_In_Frame_Ins_p.187_187K>TGQ|ATP1B1_ENST00000499679.3_In_Frame_Ins_p.131_131K>TGQ			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	187					blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular potassium ion homeostasis (GO:0030007)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|leukocyte migration (GO:0050900)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of ATP catabolic process (GO:1903291)|positive regulation of ATPase activity (GO:0032781)|positive regulation of calcium:sodium antiporter activity (GO:1903281)|positive regulation of potassium ion import (GO:1903288)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of sodium ion export from cell (GO:1903278)|potassium ion import (GO:0010107)|protein localization to plasma membrane (GO:0072659)|protein stabilization (GO:0050821)|protein transport into plasma membrane raft (GO:0044861)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression (GO:0010468)|relaxation of cardiac muscle (GO:0055119)|response to hypoxia (GO:0001666)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|vesicle (GO:0031982)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|MHC class II protein complex binding (GO:0023026)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					TCTAGGCTTCAAACCTAAGGCA	0.332																																						ENST00000367816.1		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14						c.(559-561)aaa>aCTGGGCaa		ATPase, Na+/K+ transporting, beta 1 polypeptide																																				SO:0001652	inframe_insertion	481				ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity	g.chr1:169096638_169096639insCTGGGC	U16799	CCDS1276.1	1q24.2	2012-10-22			ENSG00000143153	ENSG00000143153		"""ATPases / P-type"""	804	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit beta-1"", ""sodium pump subunit beta-1"", ""sodium-potassium ATPase subunit beta 1 (non-catalytic)"""	182330		ATP1B			Standard	NM_001677		Approved		uc001gfr.1	P05026	OTTHUMG00000034590	Exception_encountered	1.37:g.169096638_169096639insCTGGGC	ENSP00000356790:p.Lys187delinsThrGlyGln	True	False		Somatic	0				ATP1B1_ENST00000499679.3_In_Frame_Ins_p.131_131K>TGQ|ATP1B1_ENST00000367815.3_In_Frame_Ins_p.187_187K>TGQ|ATP1B1_ENST00000367813.3_In_Frame_Ins_p.179_179K>TGQ	p.187_187K>TGQ			WXS	Illumina HiSeq	Phase_I	P05026	AT1B1_HUMAN			5	1088_1089	+	all_hematologic(923;0.208)		187					Q5TGZ3	In_Frame_Ins	INS	ENST00000367816.1	37	c.559_560insCTGGGC	CCDS1276.1																																																																																				0.332	ATP1B1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083696.1	0			1:169096638
BLZF1	8548	broad.mit.edu	37	1	169351345	169351346	+	Frame_Shift_Ins	INS	-	-	AATGTAAAAATTAATAATAGTAAATAGGTAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169351345_169351346insAATGTAAAAATTAATAATAGTAAATAGGTAAT	ENST00000367808.3	+	6	1266_1267	c.843_844insAATGTAAAAATTAATAATAGTAAATAGGTAAT	c.(844-846)actfs	p.T282fs	BLZF1_ENST00000329281.2_Frame_Shift_Ins_p.T282fs			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	282					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					GAAGAGAGCAAACTTACTCCCC	0.416																																						ENST00000367808.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(844-846)actfs		basic leucine zipper nuclear factor 1																																				SO:0001589	frameshift_variant	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169351345_169351346insAATGTAAAAATTAATAATAGTAAATAGGTAAT	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	Exception_encountered	1.37:g.169351345_169351346insAATGTAAAAATTAATAATAGTAAATAGGTAAT	ENSP00000356782:p.Thr282fs	True	False		Somatic	0				BLZF1_ENST00000329281.2_Frame_Shift_Ins_p.T282fs	p.T282fs			WXS	Illumina HiSeq	Phase_I	Q9H2G9	GO45_HUMAN			6	1266_1267	+	all_hematologic(923;0.208)		282					O15298|Q5T531|Q5T533|Q9GZX4	Frame_Shift_Ins	INS	ENST00000367808.3	37	c.843_844insAATGTAAAAATTAATAATAGTAAATAGGTAAT	CCDS1278.1																																																																																				0.416	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	0	NM_003666		1:169351345
BLZF1	8548	broad.mit.edu	37	1	169351347	169351348	+	In_Frame_Ins	INS	-	-	AAATAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169351347_169351348insAAATAT	ENST00000367808.3	+	6	1268_1269	c.845_846insAAATAT	c.(844-849)acttac>acAAATATttac	p.282_283TY>TNIY	BLZF1_ENST00000329281.2_In_Frame_Ins_p.282_283TY>TNIY			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	282					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|mitotic cell cycle (GO:0000278)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AGAGAGCAAACTTACTCCCCTA	0.421																																						ENST00000367808.3		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14						c.(844-849)acttac>acAAATATttac		basic leucine zipper nuclear factor 1																																				SO:0001652	inframe_insertion	8548				cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr1:169351347_169351348insAAATAT	U79751	CCDS1278.1	1q24	2008-08-01	2008-08-01		ENSG00000117475	ENSG00000117475			1065	protein-coding gene	gene with protein product		608692				9129147	Standard	NM_003666		Approved	JEM-1	uc001gfy.3	Q9H2G9	OTTHUMG00000035453	Exception_encountered	1.37:g.169351347_169351348insAAATAT	ENSP00000356782:p.Thr282_Tyr283insAsnIle	False	False		Somatic	0				BLZF1_ENST00000329281.2_In_Frame_Ins_p.282_283TY>TNIY	p.282_283TY>TNIY			WXS	Illumina HiSeq	Phase_I	Q9H2G9	GO45_HUMAN			6	1268_1269	+	all_hematologic(923;0.208)		282					O15298|Q5T531|Q5T533|Q9GZX4	In_Frame_Ins	INS	ENST00000367808.3	37	c.845_846insAAATAT	CCDS1278.1																																																																																				0.421	BLZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086109.1	0	NM_003666		1:169351347
F5	2153	broad.mit.edu	37	1	169510790	169510791	+	In_Frame_Ins	INS	-	-	AGCCATACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:169510790_169510791insAGCCATACA	ENST00000367797.3	-	13	3738_3739	c.3537_3538insTGTATGGCT	c.(3535-3540)catgaa>catTGTATGGCTgaa	p.1179_1180HE>HCMAE	F5_ENST00000367796.3_In_Frame_Ins_p.1184_1185HE>HCMAE	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1179	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGCCAGACTTCATGTTCTGAGG	0.51																																						ENST00000367796.3		NA																	0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3550-3555)catgaa>catTGTATGGCTgaa		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)																																			SO:0001652	inframe_insertion	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510790_169510791insAGCCATACA	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3537_3538insTGTATGGCT	1.37:g.169510790_169510791insAGCCATACA	ENSP00000356771:p.His1179_Glu1180insCysMetAla	False	False		Somatic	0				F5_ENST00000367797.3_In_Frame_Ins_p.1179_1180HE>HCMAE	p.1184_1185HE>HCMAE			WXS	Illumina HiSeq	Phase_I	P12259	FA5_HUMAN			13	3753_3754	-	all_hematologic(923;0.208)		1179			B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	In_Frame_Ins	INS	ENST00000367797.3	37	c.3552_3553insTGTATGGCT	CCDS1281.1																																																																																				0.510	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	NM_000130		1:169510790
PIGC	5279	broad.mit.edu	37	1	172411015	172411016	+	Frame_Shift_Ins	INS	-	-	TAACTAGTATAGAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:172411015_172411016insTAACTAGTATAGAA	ENST00000367728.1	-	1	2210_2211	c.747_748insTTCTATACTAGTTA	c.(745-750)gtgggafs	p.G250fs	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.G250fs|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.G250fs			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	250					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						AGTACGGCTCCCACAGCACTAA	0.485																																						ENST00000367728.1		NA																	0				breast(1)|endometrium(1)|kidney(1)|lung(1)	4						c.(745-750)gtgggafs		phosphatidylinositol glycan anchor biosynthesis, class C																																				SO:0001589	frameshift_variant	5279				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr1:172411015_172411016insTAACTAGTATAGAA	BC006539	CCDS1302.1	1q23-q25	2013-02-26	2006-06-28		ENSG00000135845	ENSG00000135845	2.4.1.198	"""Phosphatidylinositol glycan anchor biosynthesis"""	8960	protein-coding gene	gene with protein product	"""phosphatidylinositol N-acetylglucosaminyltransferase"""	601730	"""phosphatidylinositol glycan, class C"""			8806613, 9325057	Standard	NM_153747		Approved		uc001gio.3	Q92535	OTTHUMG00000034751	ENST00000367728.1:c.747_748insTTCTATACTAGTTA	1.37:g.172411015_172411016insTAACTAGTATAGAA	ENSP00000356702:p.Gly250fs	True	False		Somatic	0				C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000484368.1_Intron|PIGC_ENST00000344529.4_Frame_Shift_Ins_p.G250fs|PIGC_ENST00000258324.1_Frame_Shift_Ins_p.G250fs	p.G250fs			WXS	Illumina HiSeq	Phase_I	Q92535	PIGC_HUMAN			1	2210_2211	-			250					O14491	Frame_Shift_Ins	INS	ENST00000367728.1	37	c.747_748insTTCTATACTAGTTA	CCDS1302.1																																																																																				0.485	PIGC-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084068.1	0	NM_153747		1:172411015
KLHL20	27252	broad.mit.edu	37	1	173726276	173726277	+	In_Frame_Ins	INS	-	-	ATC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:173726276_173726277insATC	ENST00000209884.4	+	7	1265_1266	c.1129_1130insATC	c.(1129-1131)tct>tATCct	p.377_377S>YP	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						TGATGGATCCTCTTATCTCAAT	0.371																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4		NA																	0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1129-1131)tct>tATCct		kelch-like family member 20																																				SO:0001652	inframe_insertion	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726276_173726277insATC	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	Exception_encountered	1.37:g.173726276_173726277insATC	ENSP00000209884:p.Ser377delinsTyrPro	False	False		Somatic	0				KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_188S>YP	p.377_377S>YP	NM_014458.3	NP_055273.2	WXS	Illumina HiSeq	Phase_I	Q9Y2M5	KLH20_HUMAN			7	1265_1266	+			377					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	In_Frame_Ins	INS	ENST00000209884.4	37	c.1129_1130insATC	CCDS1310.1																																																																																				0.371	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	0	NM_014458		1:173726276
KLHL20	27252	broad.mit.edu	37	1	173726278	173726279	+	In_Frame_Ins	INS	-	-	GAAGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:173726278_173726279insGAAGCA	ENST00000209884.4	+	7	1267_1268	c.1131_1132insGAAGCA	c.(1132-1134)tat>GAAGCAtat	p.377_378insEA	KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	377					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ATGGATCCTCTTATCTCAATAG	0.366																																					GBM(159;862 2695 6559 23041)	ENST00000209884.4		NA																	0				breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						c.(1132-1134)tat>GAAGCAtat		kelch-like family member 20																																				SO:0001652	inframe_insertion	27252				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity	g.chr1:173726278_173726279insGAAGCA	AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	Exception_encountered	1.37:g.173726278_173726279insGAAGCA	ENSP00000209884:p.Ser377_Tyr378insGluAla	False	False		Somatic	0				KLHL20_ENST00000546011.1_In_Frame_Ins_p.188_189insEA	p.377_378insEA	NM_014458.3	NP_055273.2	WXS	Illumina HiSeq	Phase_I	Q9Y2M5	KLH20_HUMAN			7	1267_1268	+			377					B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	In_Frame_Ins	INS	ENST00000209884.4	37	c.1131_1132insGAAGCA	CCDS1310.1																																																																																				0.366	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097582.1	0	NM_014458		1:173726278
KIF22	3835	broad.mit.edu	37	16	29811016	29811036	+	In_Frame_Del	DEL	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	-	rs372752891|rs142042059	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	-	-	TAGACACAGTCTCCGCACTCA	TAGACACAGTCTCCGCACTCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:29811016_29811036delTAGACACAGTCTCCGCACTCA	ENST00000160827.4	+	7	1098_1118	c.1058_1078delTAGACACAGTCTCCGCACTCA	c.(1057-1080)ctagacacagtctccgcactcaac>cac	p.353_360LDTVSALN>H	KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000561482.1_In_Frame_Del_p.285_292LDTVSALN>H|KIF22_ENST00000400751.5_In_Frame_Del_p.285_292LDTVSALN>H|KIF22_ENST00000569382.2_In_Frame_Del_p.285_292LDTVSALN>H|KIF22_ENST00000563263.1_3'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	353	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						CGCTTCTACCTAGACACAGTCTCCGCACTCAACTTTGCTGC	0.566																																						ENST00000400751.5		NA																	0				endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						c.(853-876)ctagacacagtctccgcactcaac>cac		kinesin family member 22																																				SO:0001651	inframe_deletion	3835				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding	g.chr16:29811016_29811036delTAGACACAGTCTCCGCACTCA	D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.1058_1078delTAGACACAGTCTCCGCACTCA	16.37:g.29811016_29811036delTAGACACAGTCTCCGCACTCA	ENSP00000160827:p.Leu353_Asn360delinsHis	False	False		Somatic	1				KIF22_ENST00000561482.1_In_Frame_Del_p.285_292LDTVSALN>H|KIF22_ENST00000160827.4_In_Frame_Del_p.353_360LDTVSALN>H|KIF22_ENST00000400750.2_5'UTR|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000569382.2_In_Frame_Del_p.285_292LDTVSALN>H	p.285_292LDTVSALN>H			WXS	Illumina HiSeq	Phase_I	Q14807	KIF22_HUMAN			7	1479_1499	+			353			Kinesin-motor.		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	In_Frame_Del	DEL	ENST00000160827.4	37	c.854_874delTAGACACAGTCTCCGCACTCA	CCDS10653.1																																																																																				0.566	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215012.2	0			16:29811016
ITGAM	3684	broad.mit.edu	37	16	31332934	31332935	+	Frame_Shift_Ins	INS	-	-	CCTTCAAACAGGAAACATTCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:31332934_31332935insCCTTCAAACAGGAAACATTCCT	ENST00000287497.8	+	16	2063_2064	c.1988_1989insCCTTCAAACAGGAAACATTCCT	c.(1987-1992)gatcggfs	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						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)gatcggfs		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.chr16:31332934_31332935insCCTTCAAACAGGAAACATTCCT	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_31332935insCCTTCAAACAGGAAACATTCCT	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	2062_2063	+			664					Q4VAK0|Q4VAK1|Q4VAK2	Frame_Shift_Ins	INS	ENST00000287497.8	37	c.1991_1992insCCTTCAAACAGGAAACATTCCT	CCDS45470.1																																																																																				0.530	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	0	NM_000632		16:31332934
CHD9	80205	broad.mit.edu	37	16	53342763	53342764	+	Frame_Shift_Ins	INS	-	-	TAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:53342763_53342764insTAAGA	ENST00000398510.3	+	33	7306_7307	c.7219_7220insTAAGA	c.(7219-7221)tcafs	p.S2407fs	CHD9_ENST00000564845.1_Frame_Shift_Ins_p.S2391fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.S2392fs|CHD9_ENST00000566029.1_Frame_Shift_Ins_p.S2391fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2407	Binds A/T-rich DNA.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATACCAGTATCAGGTGAATAT	0.386																																						ENST00000566029.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(7171-7173)tcafs		chromodomain helicase DNA binding protein 9																																				SO:0001589	frameshift_variant	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53342763_53342764insTAAGA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		Exception_encountered	16.37:g.53342763_53342764insTAAGA	ENSP00000381522:p.Ser2407fs	False	False		Somatic	0				CHD9_ENST00000398510.3_Frame_Shift_Ins_p.S2407fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.S2391fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.S2392fs	p.S2391fs			WXS	Illumina HiSeq	Phase_I	Q3L8U1	CHD9_HUMAN			34	7380_7381	+		all_cancers(37;0.0212)	2407			Binds A/T-rich DNA.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Frame_Shift_Ins	INS	ENST00000398510.3	37	c.7171_7172insTAAGA																																																																																					0.386	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	0	NM_025134		16:53342763
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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
CAMTA2	23125	broad.mit.edu	37	17	4875750	4875751	+	Frame_Shift_Ins	INS	-	-	TTATATT	rs558218575		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:4875750_4875751insTTATATT	ENST00000348066.3	-	16	2707_2708	c.2584_2585insAATATAA	c.(2584-2586)ggcfs	p.G862fs	CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.G864fs|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.G861fs|CAMTA2_ENST00000572543.1_Frame_Shift_Ins_p.G867fs|CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.G885fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.G862fs	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	862					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGGGGGACTGCCATCTGGGGCA	0.624																																						ENST00000572543.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(2599-2601)ggcfs		calmodulin binding transcription activator 2																																				SO:0001589	frameshift_variant	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4875750_4875751insTTATATT	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.2584_2585insAATATAA	17.37:g.4875750_4875751insTTATATT	ENSP00000321813:p.Gly862fs	False	False		Somatic	0				CAMTA2_ENST00000414043.3_Frame_Shift_Ins_p.G885fs|CAMTA2_ENST00000348066.3_Frame_Shift_Ins_p.G862fs|CAMTA2_ENST00000381311.5_Frame_Shift_Ins_p.G864fs|CAMTA2_ENST00000361571.5_Frame_Shift_Ins_p.G861fs|CAMTA2_ENST00000358183.4_Frame_Shift_Ins_p.G862fs	p.G867fs			WXS	Illumina HiSeq	Phase_I	O94983	CMTA2_HUMAN			16	2711_2712	-			862					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Frame_Shift_Ins	INS	ENST00000348066.3	37	c.2599_2600insAATATAA	CCDS11063.1																																																																																				0.624	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	0	NM_015099		17:4875750
RANGRF	29098	broad.mit.edu	37	17	8192764	8192769	+	Intron	DEL	AGGGCG	AGGGCG	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGGGCG	AGGGCG	-	-	AGGGCG	AGGGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:8192764_8192769delAGGGCG	ENST00000226105.6	+	3	643				RANGRF_ENST00000439238.3_In_Frame_Del_p.128_130KGG>S|RANGRF_ENST00000407006.4_Intron|SLC25A35_ENST00000380067.2_3'UTR|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000580340.1_Intron|SLC25A35_ENST00000581320.1_5'Flank|SLC25A35_ENST00000579192.1_Intron	NM_016492.4	NP_057576.2	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein localization to cell surface (GO:2000010)|protein exit from endoplasmic reticulum (GO:0032527)|regulation of heart rate (GO:0002027)|regulation of membrane depolarization (GO:0003254)|regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900825)|regulation of membrane potential (GO:0042391)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	guanyl-nucleotide exchange factor activity (GO:0005085)|ion channel binding (GO:0044325)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)|sodium channel regulator activity (GO:0017080)			endometrium(1)	1						ATGTCCTGGAAGGGCGGTAGCGGGGA	0.583																																						ENST00000439238.3		NA																	0				endometrium(1)	1						c.(382-390)aagggcggt>agt		RAN guanine nucleotide release factor																																				SO:0001627	intron_variant	29098				protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity	g.chr17:8192764_8192769delAGGGCG	AF151070	CCDS11137.1, CCDS54086.1, CCDS54087.1	17p13	2014-05-09				ENSG00000108961			17679	protein-coding gene	gene with protein product	"""MOG1 homolog (S. cerevisiae)"""	607954				11290418	Standard	NM_016492		Approved	MOG1, HSPC165, HSPC236, RANGNRF	uc002gkv.3	Q9HD47		ENST00000226105.6:c.351+32AGGGCG>-	17.37:g.8192764_8192769delAGGGCG		True	False		Somatic	1				SLC25A35_ENST00000580340.1_Intron|RANGRF_ENST00000407006.4_Intron|SLC25A35_ENST00000579192.1_Intron|RANGRF_ENST00000226105.6_Intron|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000396278.1_Intron|SLC25A35_ENST00000380067.2_3'UTR	p.128_130KGG>S			WXS	Illumina HiSeq	Phase_I	Q9HD47	MOG1_HUMAN			3	494_499	+			0					D3DTR6|Q68DI3|Q9BR68|Q9HD48|Q9NRU9|Q9P001|Q9P0P2	In_Frame_Del	DEL	ENST00000226105.6	37	c.383_388delAGGGCG	CCDS11137.1																																																																																				0.583	RANGRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442127.1	0	NM_016492		17:8192764
NPHS2	7827	broad.mit.edu	37	1	179533907	179533908	+	Frame_Shift_Ins	INS	-	-	ATTCTCACTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:179533907_179533908insATTCTCACTT	ENST00000367615.4	-	2	363_364	c.295_296insAAGTGAGAAT	c.(295-297)gggfs	p.G99fs	NPHS2_ENST00000367616.4_Frame_Shift_Ins_p.G99fs	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	99					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						CTCACAGGCCCCTAAGCCGGAG	0.406																																						ENST00000367615.4		NA																	0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(295-297)gggfs		nephrosis 2, idiopathic, steroid-resistant (podocin)																																				SO:0001589	frameshift_variant	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179533907_179533908insATTCTCACTT	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.295_296insAAGTGAGAAT	1.37:g.179533907_179533908insATTCTCACTT	ENSP00000356587:p.Gly99fs	True	False		Somatic	0				NPHS2_ENST00000367616.4_Frame_Shift_Ins_p.G99fs	p.G99fs	NM_014625.2	NP_055440.1	WXS	Illumina HiSeq	Phase_I	Q9NP85	PODO_HUMAN			2	363_364	-			99					B1AM32|B1AM33|Q8N6Q5	Frame_Shift_Ins	INS	ENST00000367615.4	37	c.295_296insAAGTGAGAAT	CCDS1331.1																																																																																				0.406	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1	0			1:179533907
FAM129A	116496	broad.mit.edu	37	1	184777276	184777277	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:184777276_184777277insCC	ENST00000367511.3	-	10	1459_1460	c.1266_1267insGG	c.(1264-1269)gatctcfs	p.L423fs	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	423					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CGGCTCTTGAGATCCTGCAGGC	0.52																																						ENST00000367511.3		NA																	0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1264-1269)gatctcfs		family with sequence similarity 129, member A																																				SO:0001589	frameshift_variant	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184777276_184777277insCC	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1266_1267insGG	1.37:g.184777276_184777277insCC	ENSP00000356481:p.Leu423fs	False	False		Somatic	0				FAM129A_ENST00000487074.1_5'UTR	p.L423fs	NM_052966.2	NP_443198.1	WXS	Illumina HiSeq	Phase_I	Q9BZQ8	NIBAN_HUMAN			10	1459_1460	-			423					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Frame_Shift_Ins	INS	ENST00000367511.3	37	c.1266_1267insGG	CCDS1364.1																																																																																				0.520	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1	0			1:184777276
NSRP1	84081	broad.mit.edu	37	17	28512494	28512495	+	Frame_Shift_Ins	INS	-	-	TTTATCATTATTTTCATATCTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:28512494_28512495insTTTATCATTATTTTCATATCTT	ENST00000247026.5	+	7	1542_1543	c.1479_1480insTTTATCATTATTTTCATATCTT	c.(1480-1482)tcafs	p.S494fs	NSRP1_ENST00000540900.3_3'UTR	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	Q9H0G5	NSRP1_HUMAN	nuclear speckle splicing regulatory protein 1	494					developmental process (GO:0032502)|mRNA processing (GO:0006397)|nucleocytoplasmic transport (GO:0006913)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						CTAATTCTGAATCATCACTGGG	0.431																																						ENST00000247026.5		NA																	0				autonomic_ganglia(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	14						c.(1480-1482)tcafs		nuclear speckle splicing regulatory protein 1																																				SO:0001589	frameshift_variant	84081				developmental process|nucleocytoplasmic transport|regulation of alternative nuclear mRNA splicing, via spliceosome	nuclear speck|ribonucleoprotein complex	mRNA binding|protein binding	g.chr17:28512494_28512495insTTTATCATTATTTTCATATCTT	AL136806	CCDS11255.1, CCDS74025.1	17q11.2	2011-05-24	2011-05-24	2011-05-24	ENSG00000126653	ENSG00000126653			25305	protein-coding gene	gene with protein product			"""coiled-coil domain containing 55"""	CCDC55		11230166	Standard	NM_032141		Approved	DKFZP434K1421, NSrp70	uc002heu.4	Q9H0G5	OTTHUMG00000132754	Exception_encountered	17.37:g.28512494_28512495insTTTATCATTATTTTCATATCTT	ENSP00000247026:p.Ser494fs	False	False		Somatic	0				NSRP1_ENST00000540900.3_3'UTR	p.S494fs	NM_001261467.1|NM_032141.3	NP_001248396.1|NP_115517.1	WXS	Illumina HiSeq	Phase_I	Q9H0G5	NSRP1_HUMAN			7	1542_1543	+			494					Q6FI71	Frame_Shift_Ins	INS	ENST00000247026.5	37	c.1479_1480insTTTATCATTATTTTCATATCTT	CCDS11255.1																																																																																				0.431	NSRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256121.2	0	NM_032141		17:28512494
ATAD5	79915	broad.mit.edu	37	17	29195431	29195432	+	Splice_Site	INS	-	-	CTTTCTTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:29195431_29195432insCTTTCTTGT	ENST00000321990.4	+	12	3691		c.e12+1			NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5						cellular response to DNA damage stimulus (GO:0006974)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AAACATGAAGGTATTTTGTGTG	0.277																																						ENST00000321990.4		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51						c.e12+1		ATPase family, AAA domain containing 5																																				SO:0001630	splice_region_variant	79915				response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity	g.chr17:29195431_29195432insCTTTCTTGT		CCDS11260.1	17q11.2	2010-04-21	2007-02-08	2007-02-08	ENSG00000176208	ENSG00000176208		"""ATPases / AAA-type"""	25752	protein-coding gene	gene with protein product	"""enhanced level of genomic instability 1 homolog (S. cerevisiae)"""	609534	"""chromosome 17 open reading frame 41"""	C17orf41		15983387, 11468690, 19755857	Standard	NM_024857		Approved	FLJ12735, FRAG1, ELG1	uc002hfs.1	Q96QE3	OTTHUMG00000132794	ENST00000321990.4:c.3313+1->CTTTCTTGT	17.37:g.29195431_29195432insCTTTCTTGT		False	False		Somatic	0						NM_024857.3	NP_079133.3	WXS	Illumina HiSeq	Phase_I	Q96QE3	ATAD5_HUMAN			12	3691	+		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)	NA					Q05DH0|Q69YR6|Q9H9I1	Splice_Site	INS	ENST00000321990.4	37		CCDS11260.1																																																																																				0.277	ATAD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256206.2	0	NM_024857	Intron	17:29195431
DDX52	11056	broad.mit.edu	37	17	36002238	36002239	+	Frame_Shift_Ins	INS	-	-	ATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:36002238_36002239insATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	ENST00000349699.2	-	2	229_230	c.186_187insACTGAAAAAAATTAAAGAGAAAAAACATGACAGAAAT	c.(184-189)tcacaafs	p.Q63fs	DDX52_ENST00000394367.3_De_novo_Start_InFrame|RP11-697E22.2_ENST00000586163.1_RNA|RP11-697E22.2_ENST00000586950.1_RNA	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	63						membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TGATGTGTTTGTGATGCTCCAC	0.436																																						ENST00000349699.2		NA																	0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(184-189)tcacaafs		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52																																				SO:0001589	frameshift_variant	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:36002238_36002239insATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.186_187insACTGAAAAAAATTAAAGAGAAAAAACATGACAGAAAT	17.37:g.36002238_36002239insATTTCTGTCATGTTTTTTCTCTTTAATTTTTTTCAGT	ENSP00000268854:p.Gln63fs	False	False		Somatic	0				DDX52_ENST00000394367.3_De_novo_Start_InFrame	p.Q63fs	NM_007010.3	NP_008941.2	WXS	Illumina HiSeq	Phase_I	Q9Y2R4	DDX52_HUMAN			2	229_230	-		Breast(25;0.00637)|Ovarian(249;0.15)	63					Q86YG1|Q8N213|Q9NVE0|Q9Y482	Frame_Shift_Ins	INS	ENST00000349699.2	37	c.186_187insACTGAAAAAAATTAAAGAGAAAAAACATGACAGAAAT	CCDS11323.1																																																																																				0.436	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	0	NM_152300		17:36002238
TOP2A	7153	broad.mit.edu	37	17	38560479	38560480	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:38560479_38560480insT	ENST00000423485.1	-	19	2365_2366	c.2207_2208insA	c.(2206-2208)cggfs	p.R736fs		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	736					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.R736L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GCTTGTCATTCCGTTTGAAGCA	0.376																																						ENST00000423485.1		NA																	2	Substitution - Missense(2)	p.R736L(2)	lung(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2206-2208)cggfs		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001589	frameshift_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38560479_38560480insT		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2207_2208insA	17.37:g.38560479_38560480insT	ENSP00000411532:p.Arg736fs	False	False		Somatic	0					p.R736fs	NM_001067.3	NP_001058.2	WXS	Illumina HiSeq	Phase_I	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		19	2365_2366	-		Breast(137;0.00328)	736					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Frame_Shift_Ins	INS	ENST00000423485.1	37	c.2207_2208insA	CCDS45672.1																																																																																				0.376	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1	0			17:38560479
TOP2A	7153	broad.mit.edu	37	17	38560480	38560481	+	In_Frame_Ins	INS	-	-	AAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:38560480_38560481insAAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA	ENST00000423485.1	-	19	2364_2365	c.2206_2207insTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTT	c.(2206-2208)cgg>cTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTTgg	p.736_736R>L*IYELILSPNLFW		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	736					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)	p.R736L(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTTGTCATTCCGTTTGAAGCAA	0.371																																						ENST00000423485.1		NA																	2	Substitution - Missense(2)	p.R736L(2)	lung(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(2206-2208)cgg>cTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTTgg		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)																																			SO:0001652	inframe_insertion	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38560480_38560481insAAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2206_2207insTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTT	17.37:g.38560480_38560481insAAAACAGATTTGGTGAAAGTATAAGCTCATATATTCATA	ENSP00000411532:p.Arg736delinsLeu*IleTyrGluLeuIleLeuSerProAsnLeuPheTrp	True	False		Somatic	0					p.736_736R>L*IYELILSPNLFW	NM_001067.3	NP_001058.2	WXS	Illumina HiSeq	Phase_I	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		19	2364_2365	-		Breast(137;0.00328)	736					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	In_Frame_Ins	INS	ENST00000423485.1	37	c.2206_2207insTATGAATATATGAGCTTATACTTTCACCAAATCTGTTTT	CCDS45672.1																																																																																				0.371	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1	0			17:38560480
SLC4A1	6521	broad.mit.edu	37	17	42335957	42335958	+	Frame_Shift_Ins	INS	-	-	TCAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:42335957_42335958insTCAT	ENST00000262418.6	-	10	1065_1066	c.910_911insATGA	c.(910-912)cgafs	p.R304fs	AC003043.1_ENST00000597382.1_Intron|SLC4A1_ENST00000471005.1_5'Flank	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	304	Dimerization arm.				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCCCTCGGCTCTGAGCC	0.649																																						ENST00000262418.6		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40						c.(910-912)cgafs		solute carrier family 4 (anion exchanger), member 1																																				SO:0001589	frameshift_variant	6521				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	g.chr17:42335957_42335958insTCAT		CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.910_911insATGA	17.37:g.42335957_42335958insTCAT	ENSP00000262418:p.Arg304fs	False	False		Somatic	0				AC003043.1_ENST00000597382.1_Intron	p.R304fs	NM_000342.3	NP_000333.1	WXS	Illumina HiSeq	Phase_I	P02730	B3AT_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.115)	10	1065_1066	-		Breast(137;0.014)|Prostate(33;0.0181)	304					G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Frame_Shift_Ins	INS	ENST00000262418.6	37	c.910_911insATGA	CCDS11481.1																																																																																				0.649	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346194.1	0	NM_000342		17:42335957
TEX14	56155	broad.mit.edu	37	17	56694979	56694980	+	Splice_Site	INS	-	-	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:56694979_56694980insG	ENST00000240361.8	-	6	640_641	c.555_556insC	c.(553-558)ggaaac>ggaCaac	p.N186fs	TEX14_ENST00000389934.3_Splice_Site_p.N186fs|TEX14_ENST00000349033.5_Splice_Site_p.N186fs			Q8IWB6	TEX14_HUMAN	testis expressed 14	186					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCATTAGGGTTTCTAGAAATAT	0.381																																						ENST00000389934.3		NA																	0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(553-558)ggaaac>ggaCaac		testis expressed 14																																				SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56694979_56694980insG	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.555-1->C	17.37:g.56694979_56694980insG		True	False		Somatic	0				TEX14_ENST00000240361.8_Splice_Site_p.N186fs|TEX14_ENST00000349033.5_Splice_Site_p.N186fs	p.N186fs	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	WXS	Illumina HiSeq	Phase_I	Q8IWB6	TEX14_HUMAN			6	672_673	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		186					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	INS	ENST00000240361.8	37	c.555_556insC	CCDS56042.1																																																																																				0.381	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1	0		Frame_Shift_Ins	17:56694979
TEX14	56155	broad.mit.edu	37	17	56694980	56694981	+	Splice_Site	INS	-	-	TCTTTTCTTTTTTGCCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:56694980_56694981insTCTTTTCTTTTTTGCCC	ENST00000240361.8	-	6	640	c.555_555insGGGCAAAAAAGAAAAGA	c.(553-555)gga>ggGGGCAAAAAAGAAAAGAa	p.-185fs	TEX14_ENST00000389934.3_Splice_Site_p.-185fs|TEX14_ENST00000349033.5_Splice_Site_p.-185fs			Q8IWB6	TEX14_HUMAN	testis expressed 14						attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CATTAGGGTTTCTAGAAATATT	0.381																																						ENST00000389934.3		NA																	0				breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81						c.(553-555)gga>ggGGGCAAAAAAGAAAAGAa		testis expressed 14																																				SO:0001630	splice_region_variant	56155					cytoplasm	ATP binding|protein kinase activity	g.chr17:56694980_56694981insTCTTTTCTTTTTTGCCC	AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.555-1->GGGCAAAAAAGAAAAGA	17.37:g.56694980_56694981insTCTTTTCTTTTTTGCCC		True	False		Somatic	0				TEX14_ENST00000240361.8_Splice_Site_p.-185fs|TEX14_ENST00000349033.5_Splice_Site_p.-185fs	p.-185fs	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	WXS	Illumina HiSeq	Phase_I	Q8IWB6	TEX14_HUMAN			6	672	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		NA					A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Splice_Site	INS	ENST00000240361.8	37	c.555_555insGGGCAAAAAAGAAAAGA	CCDS56042.1																																																																																				0.381	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445446.1	0		Frame_Shift_Ins	17:56694980
DDX42	11325	broad.mit.edu	37	17	61885261	61885262	+	Splice_Site	INS	-	-	CACACCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:61885261_61885262insCACACCC	ENST00000578681.1	+	10	1624		c.e10+1		DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000457800.2_Splice_Site|DDX42_ENST00000389924.2_Splice_Site	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42						protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TTGCCAGCAGGTATGTGCTTTC	0.45																																						ENST00000578681.1		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						c.e10+1		DEAD (Asp-Glu-Ala-Asp) box helicase 42																																				SO:0001630	splice_region_variant	11325				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding	g.chr17:61885261_61885262insCACACCC	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1023+1->CACACCC	17.37:g.61885261_61885262insCACACCC		False	False		Somatic	0				DDX42_ENST00000389924.2_Splice_Site|DDX42_ENST00000583590.1_Splice_Site|DDX42_ENST00000359353.5_Splice_Site|DDX42_ENST00000457800.2_Splice_Site		NM_007372.2	NP_031398.2	WXS	Illumina HiSeq	Phase_I	Q86XP3	DDX42_HUMAN			10	1624	+			NA					A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Splice_Site	INS	ENST00000578681.1	37		CCDS32704.1																																																																																				0.450	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	0	NM_007372	Intron	17:61885261
LRRC37A16P	651250	broad.mit.edu	37	17	66126509	66126510	+	RNA	INS	-	-	ATTATTTTAAGTATTTGTTTTTAAATTTATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:66126509_66126510insATTATTTTAAGTATTTGTTTTTAAATTTATT	ENST00000590019.1	-	0	298									leucine rich repeat containing 37, member A16, pseudogene																		AAAGCAGTTACTTGAGTAGGCA	0.47																																						ENST00000590019.1		NA																	0					NA																																														0							g.chr17:66126509_66126510insATTATTTTAAGTATTTGTTTTTAAATTTATT			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66126509_66126510insATTATTTTAAGTATTTGTTTTTAAATTTATT		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	298	-			NA						RNA	INS	ENST00000590019.1	37																																																																																						0.470	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1	0			17:66126509
ST6GALNAC1	55808	broad.mit.edu	37	17	74625193	74625194	+	Frame_Shift_Ins	INS	-	-	TAGACTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:74625193_74625194insTAGACTTT	ENST00000156626.7	-	2	930_931	c.731_732insAAAGTCTA	c.(730-732)acgfs	p.-244fs	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1						oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665)|sialyltransferase activity (GO:0008373)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						TTCTCTGCGTCGTGGGGCTCTG	0.54																																						ENST00000156626.7		NA																	0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(730-732)acgfs		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1																																				SO:0001589	frameshift_variant	55808				protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity	g.chr17:74625193_74625194insTAGACTTT	Y11339	CCDS11748.1	17q25.3	2013-03-01	2005-02-07	2005-02-07	ENSG00000070526	ENSG00000070526		"""Sialyltransferases"""	23614	protein-coding gene	gene with protein product		610138	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) A"""	SIAT7A			Standard	NM_001289107		Approved	ST6GalNAcI	uc002jsh.3	Q9NSC7	OTTHUMG00000180369	ENST00000156626.7:c.731_732insAAAGTCTA	17.37:g.74625193_74625194insTAGACTTT	ENSP00000156626:p.Thr244fs	False	False		Somatic	0				ST6GALNAC1_ENST00000590878.1_5'UTR	p.-244fs	NM_018414.3	NP_060884.1	WXS	Illumina HiSeq	Phase_I	Q9NSC7	SIA7A_HUMAN			2	930_931	-			NA					Q6UW90|Q9NSC6	Frame_Shift_Ins	INS	ENST00000156626.7	37	c.731_732insAAAGTCTA	CCDS11748.1																																																																																				0.540	ST6GALNAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450974.1	0	NM_018414		17:74625193
SLC38A10	124565	broad.mit.edu	37	17	79219501	79219503	+	In_Frame_Del	DEL	ATG	ATG	-	rs10569617|rs3833102|rs201518560	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:79219501_79219503delATG	ENST00000374759.3	-	16	3596_3598	c.3213_3215delCAT	c.(3211-3216)atcatt>att	p.1071_1072II>I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235). {ECO:0000305}.	amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTAAGGCCAATGATGACCCCAT	0.685														2114	0.422125	0.025	0.4712	5008	,	,		16375	0.6776		0.4364	False		,,,				2504	0.6462					ENST00000374759.3		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(3211-3216)atcatt>att		solute carrier family 38, member 10				353,3595		37,279,1658						-2.8	0.0		dbSNP_119	35	3598,4380		853,1892,1244	no	coding	SLC38A10	NM_001037984.1		890,2171,2902	A1A1,A1R,RR		45.099,8.9412,33.1293				3951,7975				SO:0001651	inframe_deletion	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219501_79219503delATG	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3213_3215delCAT	17.37:g.79219504_79219506delATG	ENSP00000363891:p.Ile1072del	False	False		Somatic	2					p.1071_1072II>I	NM_001037984.1	NP_001033073.1	WXS	Illumina HiSeq	Phase_I	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3596_3598	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1071	Missing (in Ref. 5; AAG17235).				Q6ZRC5|Q8NA99|Q96C66	In_Frame_Del	DEL	ENST00000374759.3	37	c.3213_3215delCAT	CCDS42397.1																																																																																				0.685	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	0	NM_138570		17:79219501
MOCOS	55034	broad.mit.edu	37	18	33800182	33800183	+	Splice_Site	INS	-	-	AGAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:33800182_33800183insAGAC	ENST00000261326.5	+	9	1981		c.e9+2			NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AAGCCAAAGGTGGGAAAACTGC	0.475																																						ENST00000261326.5		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e9+2		molybdenum cofactor sulfurase	Pyridoxal Phosphate(DB00114)																																			SO:0001630	splice_region_variant	55034				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding	g.chr18:33800182_33800183insAGAC	AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1960+2->AGAC	18.37:g.33800182_33800183insAGAC		True	False		Somatic	0						NM_017947.2	NP_060417.2	WXS	Illumina HiSeq	Phase_I	Q96EN8	MOCOS_HUMAN			9	1981	+			NA						Splice_Site	INS	ENST00000261326.5	37		CCDS11919.1																																																																																				0.475	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255801.1	0		Intron	18:33800182
C18orf25	147339	broad.mit.edu	37	18	43820137	43820138	+	Frame_Shift_Ins	INS	-	-	GAAAGAAAATGTATACTTGTAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:43820137_43820138insGAAAGAAAATGTATACTTGTAT	ENST00000282059.6	+	3	1256_1257	c.882_883insGAAAGAAAATGTATACTTGTAT	c.(883-885)ctgfs	p.L295fs	C18orf25_ENST00000321319.6_Intron	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	295										central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TTCTAGAGGAGCTGAATGCAGA	0.53																																						ENST00000282059.6		NA																	0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						c.(883-885)ctgfs		chromosome 18 open reading frame 25																																				SO:0001589	frameshift_variant	147339							g.chr18:43820137_43820138insGAAAGAAAATGTATACTTGTAT	AL713661	CCDS42430.1, CCDS42431.1	18q21.1	2014-01-03			ENSG00000152242	ENSG00000152242			28172	protein-coding gene	gene with protein product	"""ARKadia-like 1"""					15722956	Standard	NM_001008239		Approved	MGC12909, ARKL1, RNF111L1	uc002lbw.3	Q96B23		Exception_encountered	18.37:g.43820137_43820138insGAAAGAAAATGTATACTTGTAT	ENSP00000282059:p.Leu295fs	False	False		Somatic	0				C18orf25_ENST00000321319.6_Intron	p.L295fs	NM_145055.3	NP_659492.1	WXS	Illumina HiSeq	Phase_I	Q96B23	CR025_HUMAN			3	1256_1257	+			295					A8K123|A8KAB6|Q5XG78|Q6N058|Q86TB5|Q8TCQ5	Frame_Shift_Ins	INS	ENST00000282059.6	37	c.882_883insGAAAGAAAATGTATACTTGTAT	CCDS42430.1																																																																																				0.530	C18orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445242.1	0	NM_145055		18:43820137
ALPK2	115701	broad.mit.edu	37	18	56274671	56274672	+	Splice_Site	DEL	CC	CC	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CC	CC	-	-	CC	CC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:56274671_56274672delCC	ENST00000361673.3	-	3	323	c.110delGG	c.(109-111)ggg>gg	p.G37fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	37	Ig-like 1.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTGGGCTGACCTGACAATAAA	0.351																																						ENST00000361673.3		NA																	0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(109-111)ggg>gg		alpha-kinase 2																																				SO:0001630	splice_region_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56274671_56274672delCC	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.110-1GG>-	18.37:g.56274671_56274672delCC		True	False		Somatic	2					p.G37fs	NM_052947.3	NP_443179.3	WXS	Illumina HiSeq	Phase_I	Q86TB3	ALPK2_HUMAN			3	323	-			37			Ig-like 1.		Q6ZUX0|Q8NAT5|Q96L95	Splice_Site	DEL	ENST00000361673.3	37	c.110delGG	CCDS11966.2																																																																																				0.351	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	0	NM_052947	Frame_Shift_Del	18:56274671
MALT1	10892	broad.mit.edu	37	18	56377299	56377300	+	Frame_Shift_Ins	INS	-	-	TTTGTGTTTTAAAAATACG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr18:56377299_56377300insTTTGTGTTTTAAAAATACG	ENST00000348428.3	+	6	1178_1179	c.920_921insTTTGTGTTTTAAAAATACG	c.(919-924)atcatafs	p.I308fs	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Ins_p.I308fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	308					activation of NF-kappaB-inducing kinase activity (GO:0007250)|B-1 B cell differentiation (GO:0001923)|defense response (GO:0006952)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|nuclear export (GO:0051168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|protein oligomerization (GO:0051259)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of T cell receptor signaling pathway (GO:0050856)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)|protein self-association (GO:0043621)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						GTAGAAATCATCATAGGTAAGA	0.347			T	BIRC3	MALT																																	ENST00000348428.3		NA		Dom	yes		18	18q21	10892	T	mucosa associated lymphoid tissue lymphoma translocation gene 1			L	BIRC3		MALT		0				central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						c.(919-924)atcatafs		mucosa associated lymphoid tissue lymphoma translocation gene 1																																				SO:0001589	frameshift_variant	10892				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity	g.chr18:56377299_56377300insTTTGTGTTTTAAAAATACG		CCDS11967.1, CCDS11968.1	18q21	2013-01-11			ENSG00000172175	ENSG00000172175		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6819	protein-coding gene	gene with protein product	"""paracaspase"""	604860		MLT		10339464, 10406266, 10523859	Standard	NM_006785		Approved		uc002lhm.1	Q9UDY8	OTTHUMG00000132761	Exception_encountered	18.37:g.56377299_56377300insTTTGTGTTTTAAAAATACG	ENSP00000319279:p.Ile308fs	False	False		Somatic	0				MALT1_ENST00000345724.3_Frame_Shift_Ins_p.I308fs|RP11-126O1.4_ENST00000588835.1_RNA	p.I308fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	WXS	Illumina HiSeq	Phase_I	Q9UDY8	MALT1_HUMAN			6	1178_1179	+			308					Q9NTB7|Q9ULX4	Frame_Shift_Ins	INS	ENST00000348428.3	37	c.920_921insTTTGTGTTTTAAAAATACG	CCDS11967.1																																																																																				0.347	MALT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256132.2	0			18:56377299
REXO1	57455	broad.mit.edu	37	19	1825928	1825930	+	In_Frame_Del	DEL	CTC	CTC	-	rs149465929|rs75443592|rs199696044	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CTC	CTC	-	-	CTC	CTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:1825928_1825930delCTC	ENST00000170168.4	-	3	2018_2020	c.1924_1926delGAG	c.(1924-1926)gagdel	p.E642del	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA|CTB-31O20.4_ENST00000587741.1_RNA|REXO1_ENST00000587524.1_5'Flank	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	642						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CCTCACTCTTCTCTTCCTTGGGG	0.606														1503	0.30012	0.2844	0.4135	5008	,	,		15520	0.3829		0.2087	False		,,,				2504	0.2495					ENST00000170168.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(1924-1926)gagdel		REX1, RNA exonuclease 1 homolog (S. cerevisiae)				1300,2964		203,894,1035						3.2	0.0		dbSNP_106	100	1727,6527		175,1377,2575	no	coding	REXO1	NM_020695.3		378,2271,3610	A1A1,A1R,RR		20.9232,30.4878,24.1812				3027,9491				SO:0001651	inframe_deletion	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1825928_1825930delCTC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.1924_1926delGAG	19.37:g.1825928_1825930delCTC	ENSP00000170168:p.Glu642del	True	False		Somatic	1					p.E642del	NM_020695.3	NP_065746.3	WXS	Illumina HiSeq	Phase_I	Q8N1G1	REXO1_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)	3	2018_2020	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	642					Q9ULT2	In_Frame_Del	DEL	ENST00000170168.4	37	c.1924_1926delGAG	CCDS32866.1																																																																																				0.606	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	0	NM_020695		19:1825928
ZNF556	80032	broad.mit.edu	37	19	2876193	2876194	+	Frame_Shift_Ins	INS	-	-	GTAATTCAGGTGTTTAATTGTT	rs190373075		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:2876193_2876194insGTAATTCAGGTGTTTAATTGTT	ENST00000307635.2	+	3	320_321	c.233_234insGTAATTCAGGTGTTTAATTGTT	c.(232-237)aatatafs	p.NI78fs	ZNF556_ENST00000586426.1_Frame_Shift_Ins_p.NI78fs	NM_024967.1	NP_079243.1	Q9HAH1	ZN556_HUMAN	zinc finger protein 556	78					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(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		ACAAGAAAGAATATATGGGCCT	0.386																																						ENST00000586426.1		NA																	0				endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31						c.(232-237)aatatafs		zinc finger protein 556																																				SO:0001589	frameshift_variant	80032				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2876193_2876194insGTAATTCAGGTGTTTAATTGTT	BC009374	CCDS12097.1, CCDS74254.1	19p13.3	2013-09-20			ENSG00000172000	ENSG00000172000		"""Zinc fingers, C2H2-type"", ""-"""	25669	protein-coding gene	gene with protein product						12477932	Standard	XM_005259647		Approved	FLJ11637	uc002lwp.1	Q9HAH1	OTTHUMG00000180501	Exception_encountered	19.37:g.2876193_2876194insGTAATTCAGGTGTTTAATTGTT	ENSP00000302603:p.Asn78fs	True	False		Somatic	0				ZNF556_ENST00000307635.2_Frame_Shift_Ins_p.NI78fs	p.NI78fs			WXS	Illumina HiSeq	Phase_I	Q9HAH1	ZN556_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)	3	320_321	+			78					Q96GM3	Frame_Shift_Ins	INS	ENST00000307635.2	37	c.233_234insGTAATTCAGGTGTTTAATTGTT	CCDS12097.1																																																																																				0.386	ZNF556-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451638.2	0	NM_024967		19:2876193
UBXN6	80700	broad.mit.edu	37	19	4452392	4452393	+	Frame_Shift_Ins	INS	-	-	AACTA	rs143712546		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:4452392_4452393insAACTA	ENST00000301281.6	-	4	533_534	c.409_410insTAGTT	c.(409-411)cggfs	p.R137fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCAGGCGTCCCGCTGGTCCTTC	0.629																																						ENST00000301281.6		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(409-411)cggfs		UBX domain protein 6																																				SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4452392_4452393insAACTA	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.409_410insTAGTT	19.37:g.4452392_4452393insAACTA	ENSP00000301281:p.Arg137fs	True	False		Somatic	0				UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	p.R137fs	NM_025241.2	NP_079517.1	WXS	Illumina HiSeq	Phase_I	Q9BZV1	UBXN6_HUMAN			4	533_534	-			137					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Ins	INS	ENST00000301281.6	37	c.409_410insTAGTT	CCDS12129.1																																																																																				0.629	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	0	NM_025241		19:4452392
UBXN6	80700	broad.mit.edu	37	19	4452393	4452394	+	Frame_Shift_Ins	INS	-	-	GTGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:4452393_4452394insGTGT	ENST00000301281.6	-	4	532_533	c.408_409insACAC	c.(406-411)cagcggfs	p.R137fs	CTB-50L17.9_ENST00000592034.1_RNA|UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	137						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CAGGCGTCCCGCTGGTCCTTCC	0.634																																						ENST00000301281.6		NA																	0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						c.(406-411)cagcggfs		UBX domain protein 6																																				SO:0001589	frameshift_variant	80700					microtubule organizing center|nucleus	protein binding	g.chr19:4452393_4452394insGTGT	AF272893	CCDS12129.1, CCDS54201.1	19p13	2008-07-25	2008-07-25	2008-07-25		ENSG00000167671		"""UBX domain containing"""	14928	protein-coding gene	gene with protein product		611946	"""UBX domain-containing 1"", ""UBX domain containing 1"""	UBXD1		11342112	Standard	NM_025241		Approved	UBXDC2	uc002man.2	Q9BZV1		ENST00000301281.6:c.408_409insACAC	19.37:g.4452393_4452394insGTGT	ENSP00000301281:p.Arg137fs	False	False		Somatic	0				UBXN6_ENST00000394765.3_Frame_Shift_Ins_p.R84fs	p.R137fs	NM_025241.2	NP_079517.1	WXS	Illumina HiSeq	Phase_I	Q9BZV1	UBXN6_HUMAN			4	532_533	-			137					D6W626|Q96AH1|Q96IK9|Q9BZV0	Frame_Shift_Ins	INS	ENST00000301281.6	37	c.408_409insACAC	CCDS12129.1																																																																																				0.634	UBXN6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458447.3	0	NM_025241		19:4452393
CLEC4M	10332	broad.mit.edu	37	19	7833825	7833826	+	Frame_Shift_Ins	INS	-	-	TG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:7833825_7833826insTG	ENST00000327325.5	+	7	1269_1270	c.1151_1152insTG	c.(1150-1155)gacaatfs	p.N385fs	CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000248228.4_Frame_Shift_Ins_p.N363fs|CLEC4M_ENST00000595496.1_Frame_Shift_Ins_p.N249fs|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000334806.5_Frame_Shift_Ins_p.N334fs|CLEC4M_ENST00000394122.2_Frame_Shift_Ins_p.N373fs|CLEC4M_ENST00000596707.1_Frame_Shift_Ins_p.N318fs|CLEC4M_ENST00000359059.5_Frame_Shift_Ins_p.N318fs	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	385	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGTGACGTTGACAATTACTGGA	0.5																																						ENST00000327325.5		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1150-1155)gacaatfs		C-type lectin domain family 4, member M																																				SO:0001589	frameshift_variant	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833825_7833826insTG	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		Exception_encountered	19.37:g.7833825_7833826insTG	ENSP00000316228:p.Asn385fs	False	False		Somatic	0				CLEC4M_ENST00000359059.5_Frame_Shift_Ins_p.N318fs|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_Frame_Shift_Ins_p.N363fs|CLEC4M_ENST00000595496.1_Frame_Shift_Ins_p.N249fs|CLEC4M_ENST00000334806.5_Frame_Shift_Ins_p.N334fs|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000394122.2_Frame_Shift_Ins_p.N373fs|CLEC4M_ENST00000596707.1_Frame_Shift_Ins_p.N318fs	p.N385fs	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	WXS	Illumina HiSeq	Phase_I	Q9H2X3	CLC4M_HUMAN			7	1269_1270	+			385			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Frame_Shift_Ins	INS	ENST00000327325.5	37	c.1151_1152insTG	CCDS12187.1																																																																																				0.500	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	0	NM_014257		19:7833825
CLEC4M	10332	broad.mit.edu	37	19	7833826	7833827	+	In_Frame_Ins	INS	-	-	TTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:7833826_7833827insTTT	ENST00000327325.5	+	7	1270_1271	c.1152_1153insTTT	c.(1153-1155)aat>TTTaat	p.384_385insF	CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000248228.4_In_Frame_Ins_p.362_363insF|CLEC4M_ENST00000595496.1_In_Frame_Ins_p.248_249insF|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000334806.5_In_Frame_Ins_p.333_334insF|CLEC4M_ENST00000394122.2_In_Frame_Ins_p.372_373insF|CLEC4M_ENST00000596707.1_In_Frame_Ins_p.317_318insF|CLEC4M_ENST00000359059.5_In_Frame_Ins_p.317_318insF	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	384	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|ICAM-3 receptor activity (GO:0030369)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|receptor activity (GO:0004872)|virion binding (GO:0046790)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTGACGTTGACAATTACTGGAT	0.505																																						ENST00000327325.5		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						c.(1153-1155)aat>TTTaat		C-type lectin domain family 4, member M																																				SO:0001652	inframe_insertion	10332				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	g.chr19:7833826_7833827insTTT	AB015629	CCDS12187.1, CCDS59346.1, CCDS59347.1, CCDS59348.1	19p13	2008-02-05	2005-02-04	2005-02-11		ENSG00000104938		"""C-type lectin domain containing"", ""CD molecules"""	13523	protein-coding gene	gene with protein product		605872	"""CD299 antigen"""	CD209L, CD299		10072769	Standard	NM_001144904		Approved	HP10347, DC-SIGNR, LSIGN, DCSIGNR, DC-SIGN2	uc010dvt.3	Q9H2X3		Exception_encountered	19.37:g.7833826_7833827insTTT	ENSP00000316228:p.Asp384_Asn385insPhe	False	False		Somatic	0				CLEC4M_ENST00000359059.5_In_Frame_Ins_p.317_318insF|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_In_Frame_Ins_p.362_363insF|CLEC4M_ENST00000595496.1_In_Frame_Ins_p.248_249insF|CLEC4M_ENST00000334806.5_In_Frame_Ins_p.333_334insF|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000394122.2_In_Frame_Ins_p.372_373insF|CLEC4M_ENST00000596707.1_In_Frame_Ins_p.317_318insF	p.384_385insF	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	WXS	Illumina HiSeq	Phase_I	Q9H2X3	CLC4M_HUMAN			7	1270_1271	+			384			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	In_Frame_Ins	INS	ENST00000327325.5	37	c.1152_1153insTTT	CCDS12187.1																																																																																				0.505	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	0	NM_014257		19:7833826
MUC16	94025	broad.mit.edu	37	19	9091031	9091032	+	Frame_Shift_Ins	INS	-	-	CTTTTTCCATGACACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:9091031_9091032insCTTTTTCCATGACACT	ENST00000397910.4	-	1	986_987	c.783_784insAGTGTCATGGAAAAAG	c.(781-786)actggafs	p.TG261fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	261	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AAGGGATATCCAGTGGTTGATA	0.45																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(781-786)actggafs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9091031_9091032insCTTTTTCCATGACACT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.783_784insAGTGTCATGGAAAAAG	19.37:g.9091031_9091032insCTTTTTCCATGACACT	ENSP00000381008:p.Thr261fs	False	False		Somatic	0					p.TG261fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			1	986_987	-			261			Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.783_784insAGTGTCATGGAAAAAG	CCDS54212.1																																																																																				0.450	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9091031
DHPS	1725	broad.mit.edu	37	19	12791111	12791112	+	Frame_Shift_Ins	INS	-	-	TTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:12791111_12791112insTTAA	ENST00000210060.7	-	2	370_371	c.235_236insTTAA	c.(235-237)cagfs	p.Q79fs	DHPS_ENST00000599481.1_5'UTR|CTD-2192J16.26_ENST00000593554.1_lincRNA|DHPS_ENST00000351660.5_Frame_Shift_Ins_p.Q79fs|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.Q37fs	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	79					cellular protein metabolic process (GO:0044267)|deoxyhypusine biosynthetic process from spermidine (GO:0050983)|glucose homeostasis (GO:0042593)|peptidyl-lysine modification to peptidyl-hypusine (GO:0008612)|positive regulation of cell proliferation (GO:0008284)|positive regulation of T cell proliferation (GO:0042102)|post-translational protein modification (GO:0043687)|protein homotetramerization (GO:0051289)|translation (GO:0006412)	cytosol (GO:0005829)	deoxyhypusine synthase activity (GO:0034038)			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						GTCTTCATCCTGTGACAGTGGT	0.545																																						ENST00000210060.7		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8						c.(235-237)cagfs		deoxyhypusine synthase	Sulfadoxine(DB01299)																																			SO:0001589	frameshift_variant	1725				peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding	g.chr19:12791111_12791112insTTAA	U79262	CCDS12276.1, CCDS12277.1, CCDS59354.1	19p13.2	2011-11-24			ENSG00000095059	ENSG00000095059			2869	protein-coding gene	gene with protein product	"""migration-inducing gene 13"""	600944				7673224	Standard	NM_001930		Approved	MIG13	uc002muh.2	P49366		ENST00000210060.7:c.235_236insTTAA	19.37:g.12791111_12791112insTTAA	ENSP00000210060:p.Gln79fs	False	False		Somatic	0				DHPS_ENST00000351660.5_Frame_Shift_Ins_p.Q79fs|DHPS_ENST00000599481.1_5'UTR|DHPS_ENST00000594424.1_Frame_Shift_Ins_p.Q37fs	p.Q79fs	NM_001930.3	NP_001921.1	WXS	Illumina HiSeq	Phase_I	P49366	DHYS_HUMAN			2	370_371	-			79					A8K688|M0R1I5|Q13184|Q13276|Q9UDG0	Frame_Shift_Ins	INS	ENST00000210060.7	37	c.235_236insTTAA	CCDS12276.1																																																																																				0.545	DHPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462708.1	0	NM_001930		19:12791111
RFX1	5989	broad.mit.edu	37	19	14083667	14083711	+	In_Frame_Del	DEL	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	rs201914058|rs559806837	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	-	-	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	CCACTGCCACCCCCGCCACCGCCTCCCCCGCCGCCGCCGCCACCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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
MUC16	94025	broad.mit.edu	37	19	9060883	9060884	+	Frame_Shift_Ins	INS	-	-	GACAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:9060883_9060884insGACAG	ENST00000397910.4	-	3	26765_26766	c.26562_26563insCTGTC	c.(26560-26565)tcttccfs	p.SS8854fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8856	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACACCAGGGAAGATGGAGGGC	0.515																																						ENST00000397910.4		NA																	0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(26560-26565)tcttccfs		mucin 16, cell surface associated																																				SO:0001589	frameshift_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9060883_9060884insGACAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.26562_26563insCTGTC	19.37:g.9060883_9060884insGACAG	ENSP00000381008:p.Ser8854fs	False	False		Somatic	0					p.SS8854fs	NM_024690.2	NP_078966.2	WXS	Illumina HiSeq	Phase_I	Q8WXI7	MUC16_HUMAN			3	26765_26766	-			8856			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	c.26562_26563insCTGTC	CCDS54212.1																																																																																				0.515	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	0	NM_024690		19:9060883
GSK3A	2931	broad.mit.edu	37	19	42741064	42741065	+	Frame_Shift_Ins	INS	-	-	CTGCAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:42741064_42741065insCTGCAGA	ENST00000222330.3	-	3	627_628	c.500_501insTCTGCAG	c.(499-501)ctgfs	p.-167fs	GSK3A_ENST00000398249.4_Frame_Shift_Ins_p.-85fs|AC006486.9_ENST00000594664.1_Frame_Shift_Ins_p.-80fs	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				TGCAGTGGTCCAGCTTACGCAT	0.525																																						ENST00000398249.4		NA																	0				endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19						c.(253-255)ctgfs		glycogen synthase kinase 3 alpha																																				SO:0001589	frameshift_variant	2931				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	beta-catenin destruction complex|cytosol	ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity	g.chr19:42741064_42741065insCTGCAGA		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.500_501insTCTGCAG	19.37:g.42741064_42741065insCTGCAGA	ENSP00000222330:p.Leu167fs	False	False		Somatic	0				AC006486.9_ENST00000594664.1_Frame_Shift_Ins_p.-80fs|GSK3A_ENST00000222330.3_Frame_Shift_Ins_p.-167fs	p.-85fs			WXS	Illumina HiSeq	Phase_I	P49840	GSK3A_HUMAN			2	1967_1968	-		Prostate(69;0.00682)	NA					O14959	Frame_Shift_Ins	INS	ENST00000222330.3	37	c.254_255insTCTGCAG	CCDS12599.1																																																																																				0.525	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319782.1	0			19:42741064
PPP1R15A	23645	broad.mit.edu	37	19	49377834	49377835	+	Frame_Shift_Ins	INS	-	-	TCCTCTCCTGGCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:49377834_49377835insTCCTCTCCTGGCT	ENST00000200453.5	+	2	1613_1614	c.1344_1345insTCCTCTCCTGGCT	c.(1345-1347)gatfs	p.D449fs		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	449	4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of translation (GO:0006417)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ATGAGGATGTGGATAGTGAGGA	0.569																																						ENST00000200453.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23						c.(1345-1347)gatfs		protein phosphatase 1, regulatory subunit 15A																																				SO:0001589	frameshift_variant	23645				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	g.chr19:49377834_49377835insTCCTCTCCTGGCT	U83981	CCDS12738.1	19q13.2	2012-04-17	2011-10-04		ENSG00000087074	ENSG00000087074		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14375	protein-coding gene	gene with protein product	"""growth arrest and DNA-damage-inducible 34"""	611048	"""protein phosphatase 1, regulatory (inhibitor) subunit 15A"""			9153226, 9413226	Standard	NM_014330		Approved	GADD34	uc002pky.4	O75807		Exception_encountered	19.37:g.49377834_49377835insTCCTCTCCTGGCT	ENSP00000200453:p.Asp449fs	False	False		Somatic	0					p.D449fs	NM_014330.3	NP_055145.3	WXS	Illumina HiSeq	Phase_I	O75807	PR15A_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)	2	1613_1614	+		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	449			4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7.		B4DKQ3|Q6IA96|Q9NVU6	Frame_Shift_Ins	INS	ENST00000200453.5	37	c.1344_1345insTCCTCTCCTGGCT	CCDS12738.1																																																																																				0.569	PPP1R15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466226.1	0	NM_014330		19:49377834
SYT14	255928	broad.mit.edu	37	1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGCTTACTACC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACC	ENST00000472886.1	+	3	161_162	c.147_148insGAAACCCCAAACATTAAGTTAGCTTACTACC	c.(148-150)ttcfs	p.F50fs	SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000367015.1_Frame_Shift_Ins_p.F12fs			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351																																						ENST00000367015.1		NA																	0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(34-36)ttcfs		synaptotagmin XIV																																				SO:0001589	frameshift_variant	255928					integral to membrane		g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACC	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	Exception_encountered	1.37:g.210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACC	ENSP00000418901:p.Phe50fs	False	False		Somatic	0				SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs	p.F12fs			WXS	Illumina HiSeq	Phase_I	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	3	339_340	+			50					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Frame_Shift_Ins	INS	ENST00000472886.1	37	c.33_34insGAAACCCCAAACATTAAGTTAGCTTACTACC	CCDS31014.1																																																																																				0.351	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	0	NM_153262		1:210187063
HHAT	55733	broad.mit.edu	37	1	210761421	210761422	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:210761421_210761422insA	ENST00000367010.1	+	10	1450_1451	c.1223_1224insA	c.(1222-1227)actcccfs	p.P409fs	HHAT_ENST00000261458.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.P99fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.P364fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.P344fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.P410fs|HHAT_ENST00000541565.1_Frame_Shift_Ins_p.P272fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.P346fs	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	409					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGTGGAGACTCCCTGCATCC	0.579																																						ENST00000367010.1		NA																	0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1222-1227)actcccfs		hedgehog acyltransferase																																				SO:0001589	frameshift_variant	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210761421_210761422insA	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	Exception_encountered	1.37:g.210761421_210761422insA	ENSP00000355977:p.Pro409fs	True	False		Somatic	0				HHAT_ENST00000541565.1_Frame_Shift_Ins_p.P272fs|HHAT_ENST00000537898.1_Frame_Shift_Ins_p.P344fs|HHAT_ENST00000367009.1_Frame_Shift_Ins_p.P99fs|HHAT_ENST00000261458.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000391905.3_Frame_Shift_Ins_p.P409fs|HHAT_ENST00000308852.6_Frame_Shift_Ins_p.P364fs|HHAT_ENST00000545154.1_Frame_Shift_Ins_p.P410fs|HHAT_ENST00000545781.1_Frame_Shift_Ins_p.P346fs|HHAT_ENST00000413764.2_Frame_Shift_Ins_p.P409fs	p.P409fs	NM_001170580.1	NP_001164051.1	WXS	Illumina HiSeq	Phase_I	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	10	1450_1451	+			409					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Frame_Shift_Ins	INS	ENST00000367010.1	37	c.1223_1224insA	CCDS1495.1																																																																																				0.579	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	0	NM_018194		1:210761421
ZNF530	348327	broad.mit.edu	37	19	58118210	58118211	+	Frame_Shift_Ins	INS	-	-	CTCTCCAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:58118210_58118211insCTCTCCAG	ENST00000332854.6	+	3	1537_1538	c.1317_1318insCTCTCCAG	c.(1318-1320)tgtfs	p.C440fs	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGTGCAGTGAATGTGGGAAAGT	0.421																																						ENST00000332854.6		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20						c.(1318-1320)tgtfs		zinc finger protein 530																																				SO:0001589	frameshift_variant	348327				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58118210_58118211insCTCTCCAG	AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		Exception_encountered	19.37:g.58118210_58118211insCTCTCCAG	ENSP00000332861:p.Cys440fs	False	False		Somatic	0				ZNF530_ENST00000597864.1_Intron	p.C440fs	NM_020880.3	NP_065931.3	WXS	Illumina HiSeq	Phase_I	Q6P9A1	ZN530_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	1537_1538	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)	440					O43340|Q9P220	Frame_Shift_Ins	INS	ENST00000332854.6	37	c.1317_1318insCTCTCCAG	CCDS12955.1																																																																																				0.421	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466797.1	0	NM_020880		19:58118210
ZNF586	54807	broad.mit.edu	37	19	58301755	58301756	+	Frame_Shift_Ins	INS	-	-	CCCCAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:58301755_58301756insCCCCAAC	ENST00000598183.1	+	2	326_327	c.150_151insCCCCAAC	c.(151-153)atafs	p.I51fs	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Frame_Shift_Ins_p.I51fs			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	51	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCTTGACACTTATATCCTCCCT	0.465																																						ENST00000598183.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15						c.(151-153)atafs		zinc finger protein 586																																				SO:0001589	frameshift_variant	54807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58301755_58301756insCCCCAAC	AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		Exception_encountered	19.37:g.58301755_58301756insCCCCAAC	ENSP00000471663:p.Ile51fs	False	False		Somatic	0				ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Frame_Shift_Ins_p.I51fs	p.I51fs			WXS	Illumina HiSeq	Phase_I	Q9NXT0	ZN586_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	2	326_327	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	51			KRAB.		A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Frame_Shift_Ins	INS	ENST00000598183.1	37	c.150_151insCCCCAAC																																																																																					0.465	ZNF586-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000466824.1	0	NM_017652		19:58301755
TMC2	117532	broad.mit.edu	37	20	2577908	2577909	+	Frame_Shift_Ins	INS	-	-	TTGAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:2577908_2577909insTTGAG	ENST00000358864.1	+	10	1203_1204	c.1188_1189insTTGAG	c.(1189-1191)gatfs	p.D397fs		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	397					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGAGACAGCTGATAACAAATA	0.505																																						ENST00000358864.1		NA																	0				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1189-1191)gatfs		transmembrane channel-like 2																																				SO:0001589	frameshift_variant	117532					integral to membrane		g.chr20:2577908_2577909insTTGAG	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	Exception_encountered	20.37:g.2577908_2577909insTTGAG	ENSP00000351732:p.Asp397fs	False	False		Somatic	0					p.D397fs	NM_080751.2	NP_542789.2	WXS	Illumina HiSeq	Phase_I	Q8TDI7	TMC2_HUMAN			10	1203_1204	+			397					Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Frame_Shift_Ins	INS	ENST00000358864.1	37	c.1188_1189insTTGAG	CCDS13029.2																																																																																				0.505	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2	0			20:2577908
DHX35	60625	broad.mit.edu	37	20	37632518	37632519	+	Frame_Shift_Ins	INS	-	-	AAAATAAAAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:37632518_37632519insAAAATAAAAGT	ENST00000252011.3	+	11	1012_1013	c.979_980insAAAATAAAAGT	c.(979-981)gtgfs	p.V327fs	DHX35_ENST00000373323.4_Frame_Shift_Ins_p.V296fs|DHX35_ENST00000373325.2_Frame_Shift_Ins_p.V327fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	327	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCAAATGAAAGTGTTTGAAAGG	0.495																																						ENST00000252011.3		NA																	0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40						c.(979-981)gtgfs		DEAH (Asp-Glu-Ala-His) box polypeptide 35																																				SO:0001589	frameshift_variant	60625					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr20:37632518_37632519insAAAATAAAAGT	AK026412	CCDS13310.1, CCDS54463.1	20q11.22-q12	2003-06-13	2003-06-13	2003-06-13	ENSG00000101452	ENSG00000101452		"""DEAH-boxes"""	15861	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 35"""	C20orf15, DDX35			Standard	NM_001190809		Approved	FLJ22759, KAIA0875	uc002xjh.3	Q9H5Z1	OTTHUMG00000032463	Exception_encountered	20.37:g.37632518_37632519insAAAATAAAAGT	ENSP00000252011:p.Val327fs	False	False		Somatic	0				DHX35_ENST00000373323.4_Frame_Shift_Ins_p.V296fs|DHX35_ENST00000373325.2_Frame_Shift_Ins_p.V327fs	p.V327fs	NM_021931.3	NP_068750.2	WXS	Illumina HiSeq	Phase_I	Q9H5Z1	DHX35_HUMAN			11	1012_1013	+		Myeloproliferative disorder(115;0.00878)	327			Helicase C-terminal.		A2RTX3|B4E0J0|F5GXM6|Q5THR0|Q9H4H7|Q9H6T6	Frame_Shift_Ins	INS	ENST00000252011.3	37	c.979_980insAAAATAAAAGT	CCDS13310.1																																																																																				0.495	DHX35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079212.2	0	NM_021931		20:37632518
MMP9	4318	broad.mit.edu	37	20	44642047	44642048	+	Frame_Shift_Ins	INS	-	-	ACTTTCTTCT	rs200619019		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:44642047_44642048insACTTTCTTCT	ENST00000372330.3	+	9	1503_1504	c.1484_1485insACTTTCTTCT	c.(1483-1488)ggtcccfs	p.P496fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	496					collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|macrophage differentiation (GO:0030225)|negative regulation of cation channel activity (GO:2001258)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of receptor binding (GO:1900122)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|identical protein binding (GO:0042802)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Captopril(DB01197)|Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)	ggccccacaggtccccccactg	0.678											OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372330.3		NA																	0				breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46						c.(1483-1488)ggtcccfs		matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)																																			SO:0001589	frameshift_variant	4318				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	g.chr20:44642047_44642048insACTTTCTTCT		CCDS13390.1	20q12-q13	2008-01-07	2005-08-08		ENSG00000100985	ENSG00000100985	3.4.24.35		7176	protein-coding gene	gene with protein product		120361	"""matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase)"", ""matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)"""	CLG4B		2158484	Standard	NM_004994		Approved		uc002xqz.3	P14780	OTTHUMG00000033044	Exception_encountered	20.37:g.44642047_44642048insACTTTCTTCT	ENSP00000361405:p.Pro496fs	True	False		Somatic	0	OREG0025990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	925		p.P496fs	NM_004994.2	NP_004985.2	WXS	Illumina HiSeq	Phase_I	P14780	MMP9_HUMAN			9	1503_1504	+		Myeloproliferative disorder(115;0.0122)	496					B2R7V9|Q3LR70|Q8N725|Q9H4Z1|Q9UCJ9|Q9UCL1|Q9UDK2	Frame_Shift_Ins	INS	ENST00000372330.3	37	c.1484_1485insACTTTCTTCT	CCDS13390.1																																																																																				0.678	MMP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080337.1	0			20:44642047
SLC12A5	57468	broad.mit.edu	37	20	44669103	44669104	+	Frame_Shift_Ins	INS	-	-	AGTCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:44669103_44669104insAGTCA	ENST00000454036.2	+	7	822_823	c.773_774insAGTCA	c.(772-777)acctgtfs	p.C259fs	SLC12A5_ENST00000372315.1_Frame_Shift_Ins_p.C236fs|SLC12A5_ENST00000243964.3_Frame_Shift_Ins_p.C236fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	259					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTTTACGGCACCTGTGTGCTCA	0.545																																						ENST00000243964.3		NA																	0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(703-708)acctgtfs		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)																																			SO:0001589	frameshift_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44669103_44669104insAGTCA	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	Exception_encountered	20.37:g.44669103_44669104insAGTCA	ENSP00000387694:p.Cys259fs	True	False		Somatic	0				SLC12A5_ENST00000454036.1_Frame_Shift_Ins_p.C259fs|SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000372315.1_Frame_Shift_Ins_p.C236fs	p.C236fs	NM_020708.4	NP_065759.1	WXS	Illumina HiSeq	Phase_I	Q9H2X9	S12A5_HUMAN			7	802_803	+		Myeloproliferative disorder(115;0.0122)	259					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Ins	INS	ENST00000454036.2	37	c.704_705insAGTCA	CCDS46610.1																																																																																				0.545	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1	0			20:44669103
ADAMTS5	11096	broad.mit.edu	37	21	28327190	28327191	+	Splice_Site	INS	-	-	AAACACTTGTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:28327190_28327191insAAACACTTGTAA	ENST00000284987.5	-	2	1226	c.1105_1105insTTACAAGTGTTT	c.(1105-1107)gat>TTACAAGTGTTTgat	p.368_369insLQVF	MIR4759_ENST00000584048.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	368	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCACATAAATCCTGCCCAGGAG	0.475																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5		NA																	0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1105-1107)gat>TTACAAGTGTTTgat		ADAM metallopeptidase with thrombospondin type 1 motif, 5																																				SO:0001630	splice_region_variant	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28327190_28327191insAAACACTTGTAA	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1105-1->TTACAAGTGTTT	21.37:g.28327190_28327191insAAACACTTGTAA		False	False		Somatic	0					p.368_369insLQVF	NM_007038.3	NP_008969.2	WXS	Illumina HiSeq	Phase_I	Q9UNA0	ATS5_HUMAN			2	1226	-			368			Peptidase M12B.		Q52LV4|Q9UKP2	Splice_Site	INS	ENST00000284987.5	37	c.1105_1105insTTACAAGTGTTT	CCDS13579.1																																																																																				0.475	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1	0		In_Frame_Ins	21:28327190
CLDN17	26285	broad.mit.edu	37	21	31538725	31538726	+	In_Frame_Ins	INS	-	-	TATAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:31538725_31538726insTATAAT	ENST00000286808.3	-	1	245_246	c.210_211insATTATA	c.(208-213)ttgttg>ttgATTATAttg	p.70_71LL>LIIL		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	70					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GGGAGAGCCAACAAGGAGCTAT	0.55																																						ENST00000286808.3		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(208-213)ttgttg>ttgATTATAttg		claudin 17																																				SO:0001652	inframe_insertion	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538725_31538726insTATAAT	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.210_211insATTATA	21.37:g.31538725_31538726insTATAAT	ENSP00000286808:p.Leu70_Leu71insIleIle	False	False		Somatic	0					p.70_71LL>LIIL	NM_012131.2	NP_036263.1	WXS	Illumina HiSeq	Phase_I	P56750	CLD17_HUMAN			1	245_246	-			70					Q3MJB5|Q6UY37	In_Frame_Ins	INS	ENST00000286808.3	37	c.210_211insATTATA	CCDS13586.1																																																																																				0.550	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	0	NM_012131		21:31538725
CLDN17	26285	broad.mit.edu	37	21	31538727	31538728	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:31538727_31538728insTC	ENST00000286808.3	-	1	243_244	c.208_209insGA	c.(208-210)ttgfs	p.L70fs		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	70					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GAGAGCCAACAAGGAGCTATAG	0.55																																						ENST00000286808.3		NA																	0				NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(208-210)ttgfs		claudin 17																																				SO:0001589	frameshift_variant	26285				calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr21:31538727_31538728insTC	AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.208_209insGA	21.37:g.31538727_31538728insTC	ENSP00000286808:p.Leu70fs	False	False		Somatic	0					p.L70fs	NM_012131.2	NP_036263.1	WXS	Illumina HiSeq	Phase_I	P56750	CLD17_HUMAN			1	243_244	-			70					Q3MJB5|Q6UY37	Frame_Shift_Ins	INS	ENST00000286808.3	37	c.208_209insGA	CCDS13586.1																																																																																				0.550	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000182261.1	0	NM_012131		21:31538727
SON	6651	broad.mit.edu	37	21	34945731	34945732	+	In_Frame_Ins	INS	-	-	TTTTACAGTTAGAACTTGGTGACAGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:34945731_34945732insTTTTACAGTTAGAACTTGGTGACAGAT	ENST00000356577.4	+	9	7478_7479	c.7003_7004insTTTTACAGTTAGAACTTGGTGACAGAT	c.(7003-7005)atc>aTTTTACAGTTAGAACTTGGTGACAGATtc	p.2335_2336insLQLELGDRF	SON_ENST00000290239.6_3'UTR|SON_ENST00000381692.2_In_Frame_Ins_p.363_364insLQLELGDRF|SON_ENST00000470533.1_3'UTR	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2335	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TAAGGAACCCATCCTAGTTGAT	0.386																																						ENST00000381692.2		NA																	0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1087-1089)atc>aTTTTACAGTTAGAACTTGGTGACAGATtc		SON DNA binding protein																																				SO:0001652	inframe_insertion	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34945731_34945732insTTTTACAGTTAGAACTTGGTGACAGAT	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	Exception_encountered	21.37:g.34945731_34945732insTTTTACAGTTAGAACTTGGTGACAGAT	ENSP00000348984:p.Ile2335_Leu2336insLeuGlnLeuGluLeuGlyAspArgPhe	False	False		Somatic	0				SON_ENST00000356577.4_In_Frame_Ins_p.2335_2336insLQLELGDRF|AP000304.2_ENST00000439593.1_RNA|SON_ENST00000290239.6_3'UTR|SON_ENST00000470533.1_3'UTR	p.363_364insLQLELGDRF			WXS	Illumina HiSeq	Phase_I	P18583	SON_HUMAN			8	1128_1129	+			2335					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	In_Frame_Ins	INS	ENST00000356577.4	37	c.1087_1088insTTTTACAGTTAGAACTTGGTGACAGAT	CCDS13629.1																																																																																				0.386	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	0	NM_138927		21:34945731
ITSN1	6453	broad.mit.edu	37	21	35183426	35183427	+	In_Frame_Ins	INS	-	-	TCTTTAGATTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:35183426_35183427insTCTTTAGATTGA	ENST00000381318.3	+	21	2755_2756	c.2467_2468insTCTTTAGATTGA	c.(2467-2469)cct>cTCTTTAGATTGAct	p.823_823P>LFRLT	ITSN1_ENST00000381291.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000437442.2_In_Frame_Ins_p.818_818P>LFRLT|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000399326.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399352.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399338.4_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399353.1_In_Frame_Ins_p.781_781P>LFRLT|ITSN1_ENST00000399349.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399367.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000379960.5_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399355.2_In_Frame_Ins_p.823_823P>LFRLT	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	823					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AACATCTGCCCCTGCCCCCAAA	0.55																																						ENST00000381318.3		NA																	0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						c.(2467-2469)cct>cTCTTTAGATTGAct		intersectin 1 (SH3 domain protein)																																				SO:0001652	inframe_insertion	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35183426_35183427insTCTTTAGATTGA	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	Exception_encountered	21.37:g.35183426_35183427insTCTTTAGATTGA	ENSP00000370719:p.Pro823delinsLeuPheArgLeuThr	True	False		Somatic	0				AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399349.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399352.1_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000379960.5_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399353.1_In_Frame_Ins_p.781_781P>LFRLT|ITSN1_ENST00000399355.2_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000399367.3_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000399338.4_In_Frame_Ins_p.818_818P>LFRLT|ITSN1_ENST00000381285.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000381291.4_In_Frame_Ins_p.823_823P>LFRLT|ITSN1_ENST00000437442.2_In_Frame_Ins_p.818_818P>LFRLT	p.823_823P>LFRLT	NM_003024.2	NP_003015.2	WXS	Illumina HiSeq	Phase_I	Q15811	ITSN1_HUMAN			21	2755_2756	+			823					A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	In_Frame_Ins	INS	ENST00000381318.3	37	c.2467_2468insTCTTTAGATTGA	CCDS33545.1																																																																																				0.550	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	0	NM_003024		21:35183426
BMS1P20	96610	broad.mit.edu	37	22	22657642	22657643	+	RNA	INS	-	-	TGCTTCGT	rs562889648		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:22657642_22657643insTGCTTCGT	ENST00000426066.1	+	0	54_55					NR_027293.1				BMS1 pseudogene 20																		GCACAAGGGAAAATCGGGCCCC	0.51																																						ENST00000426066.1		NA																	0					NA																																														0							g.chr22:22657642_22657643insTGCTTCGT			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22657642_22657643insTGCTTCGT		True	False		Somatic	0						NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	54_55	+			NA						RNA	INS	ENST00000426066.1	37																																																																																						0.510	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1	0			22:22657642
BMS1P20	96610	broad.mit.edu	37	22	22657644	22657645	+	RNA	INS	-	-	AACGTTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:22657644_22657645insAACGTTAG	ENST00000426066.1	+	0	56_57					NR_027293.1				BMS1 pseudogene 20																		ACAAGGGAAAATCGGGCCCCGA	0.51																																						ENST00000426066.1		NA																	0					NA																																														0							g.chr22:22657644_22657645insAACGTTAG			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22657644_22657645insAACGTTAG		True	False		Somatic	0						NR_027293.1		WXS	Illumina HiSeq	Phase_I					0	56_57	+			NA						RNA	INS	ENST00000426066.1	37																																																																																						0.510	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1	0			22:22657644
DUSP10	11221	broad.mit.edu	37	1	221879620	221879621	+	Frame_Shift_Ins	INS	-	-	TTGCTTTGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:221879620_221879621insTTGCTTTGAT	ENST00000366899.3	-	3	1237_1238	c.999_1000insATCAAAGCAA	c.(997-1002)aatgagfs	p.E334fs	DUSP10_ENST00000544095.1_5'UTR|DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	334					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCATCCTGCTCATTGCCAAGGA	0.584																																						ENST00000366899.3		NA																	0				NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(997-1002)aatgagfs		dual specificity phosphatase 10																																				SO:0001589	frameshift_variant	11221				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr1:221879620_221879621insTTGCTTTGAT	AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.999_1000insATCAAAGCAA	1.37:g.221879620_221879621insTTGCTTTGAT	ENSP00000355866:p.Glu334fs	False	False		Somatic	0				DUSP10_ENST00000323825.3_5'UTR|DUSP10_ENST00000468085.1_5'UTR|DUSP10_ENST00000544095.1_5'UTR	p.E334fs	NM_007207.4	NP_009138.1	WXS	Illumina HiSeq	Phase_I	Q9Y6W6	DUS10_HUMAN		GBM - Glioblastoma multiforme(131;0.0103)	3	1237_1238	-			334					D3DTB4|Q6GSI4|Q9H9Z5	Frame_Shift_Ins	INS	ENST00000366899.3	37	c.999_1000insATCAAAGCAA	CCDS1528.1																																																																																				0.584	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090716.1	0	NM_007207		1:221879620
SGSM1	129049	broad.mit.edu	37	22	25243745	25243746	+	In_Frame_Ins	INS	-	-	ACCTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:25243745_25243746insACCTTG	ENST00000400359.4	+	4	291_292	c.284_285insACCTTG	c.(283-288)gagcag>gaACCTTGgcag	p.95_96EQ>EPWQ	SGSM1_ENST00000400358.4_In_Frame_Ins_p.95_96EQ>EPWQ	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	95	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CAAGACCTGGAGCAGCTGATCG	0.589																																						ENST00000400358.4		NA																	0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(283-288)gagcag>gaACCTTGgcag		small G protein signaling modulator 1																																				SO:0001652	inframe_insertion	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25243745_25243746insACCTTG	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	Exception_encountered	22.37:g.25243745_25243746insACCTTG	ENSP00000383212:p.Glu95_Gln96insProTrp	False	False		Somatic	0				SGSM1_ENST00000400359.4_In_Frame_Ins_p.95_96EQ>EPWQ	p.95_96EQ>EPWQ	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	WXS	Illumina HiSeq	Phase_I	Q2NKQ1	SGSM1_HUMAN			4	341_342	+			95			RUN.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	In_Frame_Ins	INS	ENST00000400359.4	37	c.284_285insACCTTG	CCDS46674.1																																																																																				0.589	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	0	XM_059318		22:25243745
NEFH	4744	broad.mit.edu	37	22	29885067	29885068	+	In_Frame_Ins	INS	-	-	CCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:29885067_29885068insCCA	ENST00000310624.6	+	4	1471_1472	c.1438_1439insCCA	c.(1438-1440)gag>gCCAag	p.480_480E>AK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	480	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						agaggccaaagaggaggagggc	0.525																																						ENST00000310624.6		NA																	0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(1438-1440)gag>gCCAag		neurofilament, heavy polypeptide																																				SO:0001652	inframe_insertion	4744				cell death|nervous system development	neurofilament		g.chr22:29885067_29885068insCCA		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	Exception_encountered	22.37:g.29885067_29885068insCCA	ENSP00000311997:p.Glu480delinsAlaLys	True	False		Somatic	0					p.480_480E>AK	NM_021076.3	NP_066554.2	WXS	Illumina HiSeq	Phase_I	P12036	NFH_HUMAN			4	1471_1472	+			480			Tail.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	c.1438_1439insCCA	CCDS13858.1																																																																																				0.525	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	0	NM_021076		22:29885067
CYTH4	27128	broad.mit.edu	37	22	37688745	37688746	+	Splice_Site	INS	-	-	ACTTGCCCTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:37688745_37688746insACTTGCCCTA	ENST00000248901.6	+	2	289		c.e2+1		CYTH4_ENST00000439667.1_Splice_Site|CYTH4_ENST00000405206.3_Splice_Site|CYTH4_ENST00000402997.1_Splice_Site	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4						positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGACATCCAGGTGAGTGCACAC	0.604																																						ENST00000405206.3		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						c.e2+1		cytohesin 4																																				SO:0001630	splice_region_variant	27128				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr22:37688745_37688746insACTTGCCCTA	AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.102+1->ACTTGCCCTA	22.37:g.37688745_37688746insACTTGCCCTA		False	False		Somatic	0				CYTH4_ENST00000248901.6_Splice_Site|CYTH4_ENST00000402997.1_Splice_Site|CYTH4_ENST00000439667.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9UIA0	CYH4_HUMAN			2	185	+			NA					Q5R3F9|Q9UGT6	Splice_Site	INS	ENST00000248901.6	37		CCDS13946.1																																																																																				0.604	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1	0		Intron	22:37688745
IL1RAPL1	11141	broad.mit.edu	37	X	29938208	29938209	+	Frame_Shift_Ins	INS	-	-	AAGAAAGAAATGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:29938208_29938209insAAGAAAGAAATGTA	ENST00000378993.1	+	8	1727_1728	c.1054_1055insAAGAAAGAAATGTA	c.(1054-1056)cgafs	p.R352fs	IL1RAPL1_ENST00000302196.4_Frame_Shift_Ins_p.R352fs	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	352					calcium ion transmembrane transport (GO:0070588)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of exocytosis (GO:0045920)|neuron differentiation (GO:0030182)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor binding (GO:0005102)|voltage-gated calcium channel activity (GO:0005245)	p.R352R(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						CCTTCATAAACGAGGTGAGTGT	0.401																																						ENST00000378993.1		NA																	2	Substitution - coding silent(2)	p.R352R(2)	lung(2)	biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						c.(1054-1056)cgafs		interleukin 1 receptor accessory protein-like 1																																				SO:0001589	frameshift_variant	11141				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	g.chrX:29938208_29938209insAAGAAAGAAATGTA	AJ243874	CCDS14218.1	Xp22.1-p21.3	2013-01-29	2004-02-13		ENSG00000169306	ENSG00000169306		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5996	protein-coding gene	gene with protein product		300206	"""mental retardation, X-linked 34"", ""mental retardation, X-linked 21"", ""mental retardation, X-linked 10"""	IL1RAPL, MRX34, MRX21, MRX10		10471494, 10757639	Standard	NM_014271		Approved	OPHN4, TIGIRR-2, IL1R8	uc004dby.2	Q9NZN1	OTTHUMG00000021317	Exception_encountered	X.37:g.29938208_29938209insAAGAAAGAAATGTA	ENSP00000368278:p.Arg352fs	False	False		Somatic	0				IL1RAPL1_ENST00000302196.4_Frame_Shift_Ins_p.R352fs	p.R352fs	NM_014271.3	NP_055086.1	WXS	Illumina HiSeq	Phase_I	Q9NZN1	IRPL1_HUMAN			8	1727_1728	+			352					A0AVG4|Q9UJ53	Frame_Shift_Ins	INS	ENST00000378993.1	37	c.1054_1055insAAGAAAGAAATGTA	CCDS14218.1																																																																																				0.401	IL1RAPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056155.1	0	NM_014271		X:29938208
CACNA1F	778	broad.mit.edu	37	X	49079450	49079451	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GG	GG	-	-	GG	GG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:49079450_49079451delGG	ENST00000376265.2	-	15	2116_2117	c.2055_2056delCC	c.(2053-2058)gaccagfs	p.DQ685fs	CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.DQ620fs|CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.DQ674fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	685					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTGGGTCTGGTCAAAGTTGA	0.54																																						ENST00000376265.2		NA																	0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(2053-2058)gaccagfs		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)																																			SO:0001589	frameshift_variant	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079450_49079451delGG	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2055_2056delCC	X.37:g.49079450_49079451delGG	ENSP00000365441:p.Asp685fs	False	False		Somatic	2				CACNA1F_ENST00000480889.1_5'UTR|CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.DQ674fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.DQ620fs	p.DQ685fs	NM_005183.2	NP_005174.2	WXS	Illumina HiSeq	Phase_I	O60840	CAC1F_HUMAN			15	2116_2117	-			685					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Frame_Shift_Del	DEL	ENST00000376265.2	37	c.2055_2056delCC	CCDS35253.1																																																																																				0.540	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	0	NM_005183		X:49079450
CACNA1F	778	broad.mit.edu	37	X	49079451	49079452	+	In_Frame_Ins	INS	-	-	ATTTCATCATTCTCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:49079451_49079452insATTTCATCATTCTCT	ENST00000376265.2	-	15	2115_2116	c.2054_2055insAGAGAATGATGAAAT	c.(2053-2055)gac>gaAGAGAATGATGAAATc	p.685_685D>EENDEI	CACNA1F_ENST00000376251.1_In_Frame_Ins_p.620_620D>EENDEI|CACNA1F_ENST00000480889.1_De_novo_Start_OutOfFrame|CACNA1F_ENST00000323022.5_In_Frame_Ins_p.674_674D>EENDEI	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	685					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TGTGGGTCTGGTCAAAGTTGAA	0.535																																						ENST00000480889.1		NA																	0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85								calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)																																			SO:0001652	inframe_insertion	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49079451_49079452insATTTCATCATTCTCT	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2054_2055insAGAGAATGATGAAAT	X.37:g.49079451_49079452insATTTCATCATTCTCT	ENSP00000365441:p.Asp685delinsGluGluAsnAspGluIle	False	False		Somatic	0				CACNA1F_ENST00000323022.5_In_Frame_Ins_p.674_674D>EENDEI|CACNA1F_ENST00000376265.2_In_Frame_Ins_p.685_685D>EENDEI|CACNA1F_ENST00000376251.1_In_Frame_Ins_p.620_620D>EENDEI				WXS	Illumina HiSeq	Phase_I	O60840	CAC1F_HUMAN			0	150_151	-			NA					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Translation_Start_Site	INS	ENST00000376265.2	37		CCDS35253.1																																																																																				0.535	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	0	NM_005183		X:49079451
SMC1A	8243	broad.mit.edu	37	X	53439889	53439890	+	In_Frame_Ins	INS	-	-	CTTGACTTGCAGTTTAGACAAATAGAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:53439889_53439890insCTTGACTTGCAGTTTAGACAAATAGAA	ENST00000322213.4	-	5	941_942	c.814_815insTTCTATTTGTCTAAACTGCAAGTCAAG	c.(814-816)aaa>aTTCTATTTGTCTAAACTGCAAGTCAAGaa	p.272_272K>ILFV*TASQE	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	272					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ccgcatcattttgcccagctcc	0.505																																						ENST00000322213.4		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						c.(814-816)aaa>aTTCTATTTGTCTAAACTGCAAGTCAAGaa		structural maintenance of chromosomes 1A																																				SO:0001652	inframe_insertion	8243				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	g.chrX:53439889_53439890insCTTGACTTGCAGTTTAGACAAATAGAA	S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.814_815insTTCTATTTGTCTAAACTGCAAGTCAAG	X.37:g.53439889_53439890insCTTGACTTGCAGTTTAGACAAATAGAA	ENSP00000323421:p.Lys272delinsIleLeuPheVal*ThrAlaSerGlnGlu	True	False		Somatic	0				SMC1A_ENST00000463684.1_5'UTR|SMC1A_ENST00000375340.6_Intron	p.272_272K>ILFV*TASQE	NM_006306.2	NP_006297.2	WXS	Illumina HiSeq	Phase_I	Q14683	SMC1A_HUMAN			5	941_942	-			272					O14995|Q16351|Q2M228	In_Frame_Ins	INS	ENST00000322213.4	37	c.814_815insTTCTATTTGTCTAAACTGCAAGTCAAG	CCDS14352.1																																																																																				0.505	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	0	NM_006306		X:53439889
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616																																						ENST00000372129.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						c.(61-66)gcggca>gca		insulin receptor substrate 4																																				SO:0001651	inframe_deletion	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979510_107979512delGCC	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.63_65delGGC	X.37:g.107979513_107979515delGCC	ENSP00000361202:p.Ala25del	True	False		Somatic	2					p.21_22AA>A	NM_003604.2	NP_003595.1	WXS	Illumina HiSeq	Phase_I	O14654	IRS4_HUMAN			1	139_141	-			21			Poly-Ala.			In_Frame_Del	DEL	ENST00000372129.2	37	c.63_65delGGC	CCDS14544.1																																																																																				0.616	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	0	NM_003604		X:107979510
TMEM255A	55026	broad.mit.edu	37	X	119402233	119402234	+	Frame_Shift_Ins	INS	-	-	AAAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:119402233_119402234insAAAAA	ENST00000309720.5	-	9	879_880	c.756_757insTTTTT	c.(754-759)actctcfs	p.L253fs	TMEM255A_ENST00000371352.1_Frame_Shift_Ins_p.L89fs|TMEM255A_ENST00000371369.4_Frame_Shift_Ins_p.L229fs|TMEM255A_ENST00000440464.1_Frame_Shift_Ins_p.L145fs	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	253						integral component of membrane (GO:0016021)											AGTGCTGGGAGAGTTGGGTTCT	0.386																																						ENST00000371369.4		NA																	0					NA						c.(682-687)actctcfs		transmembrane protein 255A																																				SO:0001589	frameshift_variant	55026							g.chrX:119402233_119402234insAAAAA	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.756_757insTTTTT	X.37:g.119402233_119402234insAAAAA	ENSP00000310110:p.Leu253fs	False	False		Somatic	1				TMEM255A_ENST00000309720.5_Frame_Shift_Ins_p.L253fs|TMEM255A_ENST00000371352.1_Frame_Shift_Ins_p.L89fs|TMEM255A_ENST00000440464.1_Frame_Shift_Ins_p.L145fs	p.L229fs	NM_001104544.1	NP_001098014.1	WXS	Illumina HiSeq	Phase_I					8	910_911	-			NA					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	Frame_Shift_Ins	INS	ENST00000309720.5	37	c.684_685insTTTTT	CCDS14597.1																																																																																				0.386	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	0	NM_017938		X:119402233
TMEM255A	55026	broad.mit.edu	37	X	119402235	119402236	+	In_Frame_Ins	INS	-	-	AACTCTGTATTACCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:119402235_119402236insAACTCTGTATTACCC	ENST00000309720.5	-	9	877_878	c.754_755insGGGTAATACAGAGTT	c.(754-756)act>aGGGTAATACAGAGTTct	p.252_252T>RVIQSS	TMEM255A_ENST00000371352.1_In_Frame_Ins_p.88_88T>RVIQSS|TMEM255A_ENST00000371369.4_In_Frame_Ins_p.228_228T>RVIQSS|TMEM255A_ENST00000440464.1_In_Frame_Ins_p.144_144T>RVIQSS	NM_017938.3	NP_060408.3	Q5JRV8	T255A_HUMAN	transmembrane protein 255A	252						integral component of membrane (GO:0016021)											TGCTGGGAGAGTTGGGTTCTGT	0.386																																						ENST00000371369.4		NA																	0					NA						c.(682-684)act>aGGGTAATACAGAGTTct		transmembrane protein 255A																																				SO:0001652	inframe_insertion	55026							g.chrX:119402235_119402236insAACTCTGTATTACCC	BC047054	CCDS14597.1, CCDS43986.1, CCDS48157.1	Xq24	2012-11-30	2012-11-30	2012-11-30	ENSG00000125355	ENSG00000125355			26086	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member A"""	FAM70A		12477932	Standard	NM_017938		Approved	FLJ20716	uc004eso.4	Q5JRV8	OTTHUMG00000022298	ENST00000309720.5:c.754_755insGGGTAATACAGAGTT	X.37:g.119402235_119402236insAACTCTGTATTACCC	ENSP00000310110:p.Thr252delinsArgValIleGlnSerSer	False	False		Somatic	0				TMEM255A_ENST00000309720.5_In_Frame_Ins_p.252_252T>RVIQSS|TMEM255A_ENST00000371352.1_In_Frame_Ins_p.88_88T>RVIQSS|TMEM255A_ENST00000440464.1_In_Frame_Ins_p.144_144T>RVIQSS	p.228_228T>RVIQSS	NM_001104544.1	NP_001098014.1	WXS	Illumina HiSeq	Phase_I					8	908_909	-			NA					A8K0W9|B1APR4|B3KPI6|E9PAR3|Q86Y72|Q9NWN8	In_Frame_Ins	INS	ENST00000309720.5	37	c.682_683insGGGTAATACAGAGTT	CCDS14597.1																																																																																				0.386	TMEM255A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058091.1	0	NM_017938		X:119402235
THOC2	57187	broad.mit.edu	37	X	122747350	122747351	+	Frame_Shift_Ins	INS	-	-	ATAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:122747350_122747351insATAG	ENST00000245838.8	-	36	4607_4608	c.4576_4577insCTAT	c.(4576-4578)aaafs	p.K1526fs	THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1411fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1526fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1526	Lys-rich.				mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTCCTTGTCTTTCTCATTTGGA	0.337																																						ENST00000245838.8		NA																	0				breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						c.(4576-4578)aaafs		THO complex 2																																				SO:0001589	frameshift_variant	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122747350_122747351insATAG	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.4576_4577insCTAT	X.37:g.122747350_122747351insATAG	ENSP00000245838:p.Lys1526fs	True	False		Somatic	0				THOC2_ENST00000464992.1_5'UTR|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.K1526fs|THOC2_ENST00000491737.1_Frame_Shift_Ins_p.K1411fs	p.K1526fs	NM_001081550.1	NP_001075019.1	WXS	Illumina HiSeq	Phase_I	Q8NI27	THOC2_HUMAN			36	4607_4608	-			1526			Lys-rich.		A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Frame_Shift_Ins	INS	ENST00000245838.8	37	c.4576_4577insCTAT	CCDS43988.1																																																																																				0.337	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3	0			X:122747350
OR2T6	254879	broad.mit.edu	37	1	248551675	248551676	+	Frame_Shift_Ins	INS	-	-	CAGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:248551675_248551676insCAGCA	ENST00000355728.2	+	1	766_767	c.766_767insCAGCA	c.(766-768)ttgfs	p.L256fs		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	256						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGCTGCCTTGTATACGTAT	0.475																																						ENST00000355728.2		NA																	0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(766-768)ttgfs		olfactory receptor, family 2, subfamily T, member 6																																				SO:0001589	frameshift_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551675_248551676insCAGCA	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	Exception_encountered	1.37:g.248551675_248551676insCAGCA	ENSP00000347965:p.Leu256fs	False	False		Somatic	0					p.L256fs	NM_001005471.1	NP_001005471.1	WXS	Illumina HiSeq	Phase_I	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	766_767	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		256					A6NE36	Frame_Shift_Ins	INS	ENST00000355728.2	37	c.766_767insCAGCA	CCDS31114.1																																																																																				0.475	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	0	NM_001005471		1:248551675
KIDINS220	57498	broad.mit.edu	37	2	8890457	8890458	+	In_Frame_Ins	INS	-	-	TTTATTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:8890457_8890458insTTTATTTTT	ENST00000256707.3	-	24	3379_3380	c.3198_3199insAAAAATAAA	c.(3196-3201)cgtgct>cgtAAAAATAAAgct	p.1066_1067RA>RKNKA	KIDINS220_ENST00000418530.1_In_Frame_Ins_p.1024_1025RA>RKNKA|KIDINS220_ENST00000473731.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000427284.1_In_Frame_Ins_p.1066_1067RA>RKNKA	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1066					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TCTCTGGCAGCACGAACATCTG	0.51																																						ENST00000256707.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60						c.(3196-3201)cgtgct>cgtAAAAATAAAgct		kinase D-interacting substrate, 220kDa																																				SO:0001652	inframe_insertion	57498				activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane		g.chr2:8890457_8890458insTTTATTTTT	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.3198_3199insAAAAATAAA	2.37:g.8890457_8890458insTTTATTTTT	ENSP00000256707:p.Arg1066_Ala1067insLysAsnLys	False	False		Somatic	0				KIDINS220_ENST00000473731.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000427284.1_In_Frame_Ins_p.1066_1067RA>RKNKA|KIDINS220_ENST00000418530.1_In_Frame_Ins_p.1024_1025RA>RKNKA	p.1066_1067RA>RKNKA	NM_020738.2	NP_065789.1	WXS	Illumina HiSeq	Phase_I	Q9ULH0	KDIS_HUMAN			24	3379_3380	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1066					A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	In_Frame_Ins	INS	ENST00000256707.3	37	c.3198_3199insAAAAATAAA	CCDS42650.1																																																																																				0.510	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	0	NM_020738		2:8890457
APOB	338	broad.mit.edu	37	2	21236293	21236294	+	Frame_Shift_Ins	INS	-	-	TTACCACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:21236293_21236294insTTACCACA	ENST00000233242.1	-	25	4081_4082	c.3954_3955insTGTGGTAA	c.(3952-3957)acaccafs	p.P1319fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1319					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGAGGGCTGGTGTCCTAACAG	0.431																																						ENST00000233242.1		NA																	0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(3952-3957)acaccafs		apolipoprotein B	Atorvastatin(DB01076)																																			SO:0001589	frameshift_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21236293_21236294insTTACCACA	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.3954_3955insTGTGGTAA	2.37:g.21236293_21236294insTTACCACA	ENSP00000233242:p.Pro1319fs	False	False		Somatic	0					p.P1319fs	NM_000384.2	NP_000375.2	WXS	Illumina HiSeq	Phase_I	P04114	APOB_HUMAN			25	4081_4082	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1319					O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	ENST00000233242.1	37	c.3954_3955insTGTGGTAA	CCDS1703.1																																																																																				0.431	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1	0			2:21236293
PRR30	339779	broad.mit.edu	37	2	27360768	27360769	+	Frame_Shift_Ins	INS	-	-	CACA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:27360768_27360769insCACA	ENST00000335524.3	-	3	954_955	c.429_430insTGTG	c.(427-432)tgccagfs	p.Q144fs		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		144	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					gaaggggactggcaaggtgagt	0.614																																						ENST00000335524.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(427-432)tgccagfs		chromosome 2 open reading frame 53																																				SO:0001589	frameshift_variant	339779							g.chr2:27360768_27360769insCACA																												ENST00000335524.3:c.429_430insTGTG	2.37:g.27360768_27360769insCACA	ENSP00000335017:p.Gln144fs	False	False		Somatic	0					p.Q144fs	NM_178553.3	NP_848648.2	WXS	Illumina HiSeq	Phase_I	Q53SZ7	CB053_HUMAN			3	954_955	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		144			Pro-rich.		Q86UE2	Frame_Shift_Ins	INS	ENST00000335524.3	37	c.429_430insTGTG	CCDS1739.1																																																																																				0.614	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1	0			2:27360768
PRR30	339779	broad.mit.edu	37	2	27360769	27360770	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:27360769_27360770insTT	ENST00000335524.3	-	3	953_954	c.428_429insAA	c.(427-429)tgcfs	p.C143fs		NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		143	Pro-rich.									cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					aaggggactggcaaggtgagtg	0.614																																						ENST00000335524.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20						c.(427-429)tgcfs		chromosome 2 open reading frame 53																																				SO:0001589	frameshift_variant	339779							g.chr2:27360769_27360770insTT																												ENST00000335524.3:c.428_429insAA	2.37:g.27360769_27360770insTT	ENSP00000335017:p.Cys143fs	False	False		Somatic	0					p.C143fs	NM_178553.3	NP_848648.2	WXS	Illumina HiSeq	Phase_I	Q53SZ7	CB053_HUMAN			3	953_954	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		143			Pro-rich.		Q86UE2	Frame_Shift_Ins	INS	ENST00000335524.3	37	c.428_429insAA	CCDS1739.1																																																																																				0.614	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1	0			2:27360769
LTBP1	4052	broad.mit.edu	37	2	33568029	33568030	+	Splice_Site	INS	-	-	AT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:33568029_33568030insAT	ENST00000404816.2	+	25	4208_4209	c.3855_3856insAT	c.(3856-3858)gat>ATgat	p.D1286fs	LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000404525.1_Splice_Site_p.D907fs|LTBP1_ENST00000354476.3_Splice_Site_p.D1287fs|LTBP1_ENST00000390003.4_Splice_Site_p.D961fs|LTBP1_ENST00000402934.1_Splice_Site_p.D907fs|LTBP1_ENST00000407925.1_Splice_Site_p.D960fs|LTBP1_ENST00000418533.2_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1286	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGTGTGTGGGTGAGTTTTT	0.475																																						ENST00000402934.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108						c.(2719-2721)gat>ATgat		latent transforming growth factor beta binding protein 1																																				SO:0001630	splice_region_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33568029_33568030insAT		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.3856+1->AT	2.37:g.33568029_33568030insAT		True	False		Somatic	0				LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000404816.2_Splice_Site_p.D1286fs|LTBP1_ENST00000404525.1_Splice_Site_p.D907fs|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Splice_Site_p.D1287fs|LTBP1_ENST00000407925.1_Splice_Site_p.D960fs|LTBP1_ENST00000390003.4_Splice_Site_p.D961fs	p.D907fs			WXS	Illumina HiSeq	Phase_I	Q14766	LTBP1_HUMAN			21	2831_2832	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1286			EGF-like 4; calcium-binding (Potential).		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Splice_Site	INS	ENST00000404816.2	37	c.2718_2719insAT	CCDS33177.2																																																																																				0.475	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	0	NM_206943	Frame_Shift_Ins	2:33568029
LRPPRC	10128	broad.mit.edu	37	2	44161416	44161417	+	In_Frame_Ins	INS	-	-	GATTCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:44161416_44161417insGATTCA	ENST00000260665.7	-	25	2705_2706	c.2648_2649insTGAATC	c.(2647-2649)caa>caTGAATCa	p.883_883Q>HES		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	883					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CACCTTGTTCTTGGCTCACAAA	0.351																																						ENST00000260665.7		NA																	0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.(2647-2649)caa>caTGAATCa		leucine-rich pentatricopeptide repeat containing																																				SO:0001652	inframe_insertion	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44161416_44161417insGATTCA	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2648_2649insTGAATC	2.37:g.44161416_44161417insGATTCA	ENSP00000260665:p.Gln883delinsHisGluSer	False	False		Somatic	0					p.883_883Q>HES	NM_133259.3	NP_573566.2	WXS	Illumina HiSeq	Phase_I	P42704	LPPRC_HUMAN			25	2705_2706	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	883					A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	In_Frame_Ins	INS	ENST00000260665.7	37	c.2648_2649insTGAATC	CCDS33189.1																																																																																				0.351	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	0	NM_133259		2:44161416
MSH2	4436	broad.mit.edu	37	2	47637492	47637493	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:47637492_47637493insAG	ENST00000233146.2	+	3	849_850	c.626_627insAG	c.(625-630)gacatgfs	p.DM209fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.DM143fs|MSH2_ENST00000406134.1_Frame_Shift_Ins_p.DM209fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	209					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACTGCTGGAGACATGGGGAAAC	0.436			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1		NA	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(625-630)gacatgfs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637492_47637493insAG	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	Exception_encountered	2.37:g.47637492_47637493insAG	ENSP00000233146:p.Asp209fs	False	False		Somatic	0				MSH2_ENST00000233146.2_Frame_Shift_Ins_p.DM209fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.DM143fs	p.DM209fs			WXS	Illumina HiSeq	Phase_I	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	688_689	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	209					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.626_627insAG	CCDS1834.1																																																																																				0.436	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3	0			2:47637492
HK2	3099	broad.mit.edu	37	2	75107650	75107651	+	In_Frame_Ins	INS	-	-	AGGGCG	rs142174869	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:75107650_75107651insAGGGCG	ENST00000290573.2	+	10	2124_2125	c.1524_1525insAGGGCG	c.(1525-1527)gtc>AGGGCGgtc	p.508_509insRA	HK2_ENST00000409174.1_In_Frame_Ins_p.480_481insRA	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	508	Catalytic.|Hexokinase type-1 2.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.V509I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CCAGTGCCCCCGTCAAGATGCT	0.594																																						ENST00000409174.1		NA																	2	Substitution - Missense(2)	p.V509I(2)	lung(2)	breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						c.(1441-1443)gtc>AGGGCGgtc		hexokinase 2																																				SO:0001652	inframe_insertion	3099				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	g.chr2:75107650_75107651insAGGGCG		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	Exception_encountered	2.37:g.75107650_75107651insAGGGCG	ENSP00000290573:p.Pro508_Val509insArgAla	True	False		Somatic	0				HK2_ENST00000290573.2_In_Frame_Ins_p.508_509insRA	p.480_481insRA			WXS	Illumina HiSeq	Phase_I	P52789	HXK2_HUMAN			10	1630_1631	+			508			Catalytic.		D6W5J2|Q8WU87|Q9UN82	In_Frame_Ins	INS	ENST00000290573.2	37	c.1440_1441insAGGGCG	CCDS1956.1																																																																																				0.594	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	0	NM_000189		2:75107650
ELMOD3	84173	broad.mit.edu	37	2	85589382	85589383	+	Splice_Site	INS	-	-	CCAAAGATAATAGTTTAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:85589382_85589383insCCAAAGATAATAGTTTAAA	ENST00000409890.2	+	5	795_796	c.128_129insCCAAAGATAATAGTTTAAA	c.(127-132)cctatc>ccCCAAAGATAATAGTTTAAAtatc	p.I44fs	ELMOD3_ENST00000409344.3_Splice_Site_p.I44fs|ELMOD3_ENST00000409013.3_Splice_Site_p.I44fs|ELMOD3_ENST00000428955.2_Splice_Site_p.I44fs|ELMOD3_ENST00000393852.4_Splice_Site_p.I44fs|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000315658.7_Splice_Site_p.I44fs			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	44					phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGAGGAATCCCTGTATGTATCA	0.485																																						ENST00000315658.7		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.(127-132)cctatc>ccCCAAAGATAATAGTTTAAAtatc		ELMO/CED-12 domain containing 3																																				SO:0001630	splice_region_variant	84173				phagocytosis	cytoskeleton		g.chr2:85589382_85589383insCCAAAGATAATAGTTTAAA	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.129+1->CCAAAGATAATAGTTTAAA	2.37:g.85589382_85589383insCCAAAGATAATAGTTTAAA		True	False		Somatic	0				ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Splice_Site_p.I44fs|ELMOD3_ENST00000428955.2_Splice_Site_p.I44fs|ELMOD3_ENST00000409890.2_Splice_Site_p.I44fs|ELMOD3_ENST00000409344.3_Splice_Site_p.I44fs|ELMOD3_ENST00000409013.3_Splice_Site_p.I44fs	p.I44fs	NM_032213.4	NP_115589.2	WXS	Illumina HiSeq	Phase_I	Q96FG2	ELMD3_HUMAN			3	387_388	+			44					B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Splice_Site	INS	ENST00000409890.2	37	c.128_129insCCAAAGATAATAGTTTAAA	CCDS46352.1																																																																																				0.485	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	0	NM_032213	Frame_Shift_Ins	2:85589382
ELMOD3	84173	broad.mit.edu	37	2	85589384	85589385	+	Splice_Site	INS	-	-	TCATACTTTTTTTTTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:85589384_85589385insTCATACTTTTTTTTTTT	ENST00000409890.2	+	5	796		c.e5+1		ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site|ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site|ELMOD3_ENST00000490508.1_Splice_Site|ELMOD3_ENST00000315658.7_Splice_Site			Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3						phagocytosis (GO:0006909)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGAATCCCTGTATGTATCACC	0.475																																						ENST00000315658.7		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						c.e3+1		ELMO/CED-12 domain containing 3																																				SO:0001630	splice_region_variant	84173				phagocytosis	cytoskeleton		g.chr2:85589384_85589385insTCATACTTTTTTTTTTT	AF258573	CCDS1973.1, CCDS46352.1	2p11.2	2014-01-28	2008-08-14	2008-08-14	ENSG00000115459	ENSG00000115459		"""RNA binding motif (RRM) containing"""	26158	protein-coding gene	gene with protein product		615427	"""RNA binding motif protein 29"", ""RNA binding motif and ELMO/CED-12 domain 1"", ""deafness, autosomal recessive 88"""	RBM29, RBED1, DFNB88		24039609	Standard	NM_032213		Approved	FLJ21977	uc010ysn.2	Q96FG2	OTTHUMG00000130170	ENST00000409890.2:c.129+1->TCATACTTTTTTTTTTT	2.37:g.85589384_85589385insTCATACTTTTTTTTTTT		True	False		Somatic	0				ELMOD3_ENST00000490508.1_Splice_Site|ELMOD3_ENST00000393852.4_Splice_Site|ELMOD3_ENST00000428955.2_Splice_Site|ELMOD3_ENST00000409890.2_Splice_Site|ELMOD3_ENST00000409344.3_Splice_Site|ELMOD3_ENST00000409013.3_Splice_Site		NM_032213.4	NP_115589.2	WXS	Illumina HiSeq	Phase_I	Q96FG2	ELMD3_HUMAN			3	388	+			NA					B8ZZD6|D6W5K4|Q2M1K3|Q2XSU3|Q2XSU4|Q8NAC1|Q8TCK4|Q8WV70|Q8WY75|Q9H6Q8	Splice_Site	INS	ENST00000409890.2	37		CCDS46352.1																																																																																				0.475	ELMOD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329124.1	0	NM_032213	Intron	2:85589384
IL1R1	3554	broad.mit.edu	37	2	102792134	102792135	+	Intron	INS	-	-	AAAAATAAGAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:102792134_102792135insAAAAATAAGAGA	ENST00000410023.1	+	11	1621				IL1R1_ENST00000233946.3_Intron|IL1R1_ENST00000409288.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000424272.1_In_Frame_Ins_p.444_445insKNKR|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409329.1_In_Frame_Ins_p.444_445insKNKR			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I						cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGAGTAAAGGCTTATTGTTGTA	0.381																																						ENST00000424272.1		NA																	0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1333-1335)tta>AAAAATAAGAGAtta		interleukin 1 receptor, type I	Anakinra(DB00026)																																			SO:0001627	intron_variant	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102792134_102792135insAAAAATAAGAGA	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1303+29->AAAAATAAGAGA	2.37:g.102792134_102792135insAAAAATAAGAGA		False	False		Somatic	0				AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409288.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_In_Frame_Ins_p.444_445insKNKR|IL1R1_ENST00000410023.1_Intron|IL1R1_ENST00000233946.3_Intron	p.444_445insKNKR			WXS	Illumina HiSeq	Phase_I	P14778	IL1R1_HUMAN			11	1573_1574	+			0			TIR.		Q587I7	In_Frame_Ins	INS	ENST00000410023.1	37	c.1332_1333insAAAAATAAGAGA	CCDS2055.1																																																																																				0.381	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1	0			2:102792134
SLC9A4	389015	broad.mit.edu	37	2	103120054	103120055	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:103120054_103120055insC	ENST00000295269.4	+	3	1325_1326	c.868_869insC	c.(868-870)tttfs	p.F290fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	290					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TATTTCTGCATTTATCACACGT	0.431																																						ENST00000295269.4		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(868-870)tttfs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4																																				SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120054_103120055insC		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	Exception_encountered	2.37:g.103120054_103120055insC	ENSP00000295269:p.Phe290fs	True	False		Somatic	0					p.F290fs	NM_001011552.3	NP_001011552.2	WXS	Illumina HiSeq	Phase_I	Q6AI14	SL9A4_HUMAN			3	1325_1326	+			290					Q69YK0	Frame_Shift_Ins	INS	ENST00000295269.4	37	c.868_869insC	CCDS33264.1																																																																																				0.431	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	0	NM_001011552.3		2:103120054
SLC9A4	389015	broad.mit.edu	37	2	103120055	103120056	+	Frame_Shift_Ins	INS	-	-	TTGTAAAGGCAATTAACATATTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:103120055_103120056insTTGTAAAGGCAATTAACATATTG	ENST00000295269.4	+	3	1326_1327	c.869_870insTTGTAAAGGCAATTAACATATTG	c.(868-873)tttatcfs	p.I291fs		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	291					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATTTCTGCATTTATCACACGTT	0.436																																						ENST00000295269.4		NA																	0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(868-873)tttatcfs		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4																																				SO:0001589	frameshift_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120055_103120056insTTGTAAAGGCAATTAACATATTG		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	Exception_encountered	2.37:g.103120055_103120056insTTGTAAAGGCAATTAACATATTG	ENSP00000295269:p.Ile291fs	True	False		Somatic	0					p.I291fs	NM_001011552.3	NP_001011552.2	WXS	Illumina HiSeq	Phase_I	Q6AI14	SL9A4_HUMAN			3	1326_1327	+			291					Q69YK0	Frame_Shift_Ins	INS	ENST00000295269.4	37	c.869_870insTTGTAAAGGCAATTAACATATTG	CCDS33264.1																																																																																				0.436	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	0	NM_001011552.3		2:103120055
CKAP2L	150468	broad.mit.edu	37	2	113509947	113509948	+	Frame_Shift_Ins	INS	-	-	AAGTCTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:113509947_113509948insAAGTCTT	ENST00000302450.6	-	5	1576_1577	c.1498_1499insAAGACTT	c.(1498-1500)ttcfs	p.-499fs	CKAP2L_ENST00000541405.1_Frame_Shift_Ins_p.-334fs	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GCTCTTCCAGAATGAAATATTC	0.347																																						ENST00000302450.6		NA																	0				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1498-1500)ttcfs		cytoskeleton associated protein 2-like																																				SO:0001589	frameshift_variant	150468					centrosome		g.chr2:113509947_113509948insAAGTCTT	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.1498_1499insAAGACTT	2.37:g.113509947_113509948insAAGTCTT	ENSP00000305204:p.Ser499fs	False	False		Somatic	0				CKAP2L_ENST00000541405.1_Frame_Shift_Ins_p.-334fs	p.-499fs	NM_152515.3	NP_689728.3	WXS	Illumina HiSeq	Phase_I	Q8IYA6	CKP2L_HUMAN			5	1576_1577	-			NA					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Frame_Shift_Ins	INS	ENST00000302450.6	37	c.1498_1499insAAGACTT	CCDS2100.1																																																																																				0.347	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	0	NM_152515		2:113509947
PAX8	7849	broad.mit.edu	37	2	114004480	114004481	+	Frame_Shift_Ins	INS	-	-	GCTTGAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:114004480_114004481insGCTTGAC	ENST00000429538.3	-	3	235_236	c.41_42insGTCAAGC	c.(40-42)aacfs	p.N14fs	AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000348715.5_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000263334.5_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000397647.3_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000263335.7_Frame_Shift_Ins_p.N14fs	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	14	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						CTCCCAGCTGGTTCAGCCCTCC	0.589			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)	ENST00000429538.3		NA		Dom	yes		2	2q12-q14	7849	T	paired box gene 8	yes	Thyroid dysgenesis	E	PPARG		follicular thyroid	PAX8/PPARG(117)	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						c.(40-42)aacfs		paired box 8																																				SO:0001589	frameshift_variant	7849				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity	g.chr2:114004480_114004481insGCTTGAC	X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.41_42insGTCAAGC	2.37:g.114004480_114004481insGCTTGAC	ENSP00000395498:p.Asn14fs	False	False		Somatic	0				AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000451179.1_RNA|PAX8_ENST00000397647.3_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000348715.5_Frame_Shift_Ins_p.N14fs|PAX8_ENST00000263335.7_Frame_Shift_Ins_p.N14fs|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Frame_Shift_Ins_p.N14fs|AC016683.6_ENST00000553869.2_RNA	p.N14fs	NM_003466.3	NP_003457.1	WXS	Illumina HiSeq	Phase_I	Q06710	PAX8_HUMAN			3	235_236	-			14			Paired.		Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Frame_Shift_Ins	INS	ENST00000429538.3	37	c.41_42insGTCAAGC	CCDS46398.1																																																																																				0.589	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250353.5	0			2:114004480
UBXN4	23190	broad.mit.edu	37	2	136540358	136540359	+	Frame_Shift_Ins	INS	-	-	CATTATATCTACTAACACAGTACTA	rs547954260		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:136540358_136540359insCATTATATCTACTAACACAGTACTA	ENST00000272638.9	+	13	1739_1740	c.1428_1429insCATTATATCTACTAACACAGTACTA	c.(1429-1431)gacfs	p.D477fs	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	477					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						AACGTGGAGACGACTTTAAAAA	0.371																																						ENST00000272638.9		NA																	0				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						c.(1429-1431)gacfs		UBX domain protein 4																																				SO:0001589	frameshift_variant	23190				response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr2:136540358_136540359insCATTATATCTACTAACACAGTACTA	D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	Exception_encountered	2.37:g.136540358_136540359insCATTATATCTACTAACACAGTACTA	ENSP00000272638:p.Asp477fs	False	False		Somatic	0				UBXN4_ENST00000490163.1_3'UTR	p.D477fs	NM_014607.3	NP_055422.1	WXS	Illumina HiSeq	Phase_I	Q92575	UBXN4_HUMAN			13	1739_1740	+			477					A8K9W4|Q4ZG56|Q8IYM5	Frame_Shift_Ins	INS	ENST00000272638.9	37	c.1428_1429insCATTATATCTACTAACACAGTACTA	CCDS42761.1																																																																																				0.371	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331696.1	0	NM_014607		2:136540358
NEB	4703	broad.mit.edu	37	2	152512839	152512840	+	Frame_Shift_Ins	INS	-	-	CTAAATGGATAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152512839_152512840insCTAAATGGATAAGA	ENST00000172853.10	-	49	6469_6470	c.6322_6323insTCTTATCCATTTAG	c.(6322-6324)aacfs	p.N2108fs	NEB_ENST00000397345.3_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.N2108fs			P20929	NEBU_HUMAN	nebulin	2108					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGTCTTTGTGTTCTCATAGTTT	0.48																																						ENST00000604864.1		NA																	0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(6322-6324)aacfs		nebulin																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152512839_152512840insCTAAATGGATAAGA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.6322_6323insTCTTATCCATTTAG	2.37:g.152512839_152512840insCTAAATGGATAAGA	ENSP00000172853:p.Asn2108fs	False	False		Somatic	0				NEB_ENST00000409198.1_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.N2108fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.N2108fs	p.N2108fs			WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	47	6321_6322	-			2108					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.6322_6323insTCTTATCCATTTAG																																																																																					0.480	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152512839
TMCO4	255104	broad.mit.edu	37	1	20009876	20009877	+	Frame_Shift_Ins	INS	-	-	CAGTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:20009876_20009877insCAGTA	ENST00000294543.6	-	16	1802_1803	c.1561_1562insTACTG	c.(1561-1563)cgcfs	p.R521fs	TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Frame_Shift_Ins_p.R521fs|TMCO4_ENST00000375122.2_Frame_Shift_Ins_p.R481fs	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	521						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		TGGCTTGGTGCGGATGCCCACG	0.668																																						ENST00000294543.6		NA																	0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(1561-1563)cgcfs		transmembrane and coiled-coil domains 4																																				SO:0001589	frameshift_variant	255104					integral to membrane		g.chr1:20009876_20009877insCAGTA		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1561_1562insTACTG	1.37:g.20009876_20009877insCAGTA	ENSP00000294543:p.Arg521fs	False	False		Somatic	0				TMCO4_ENST00000375122.2_Frame_Shift_Ins_p.R481fs|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Frame_Shift_Ins_p.R521fs	p.R521fs	NM_181719.4	NP_859070.3	WXS	Illumina HiSeq	Phase_I	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	16	1802_1803	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	521					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Frame_Shift_Ins	INS	ENST00000294543.6	37	c.1561_1562insTACTG	CCDS198.1																																																																																				0.668	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	0	NM_181719		1:20009876
EIF4G3	8672	broad.mit.edu	37	1	21307660	21307661	+	Frame_Shift_Ins	INS	-	-	TGTGGTATTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:21307660_21307661insTGTGGTATTA	ENST00000264211.8	-	3	284_285	c.90_91insTAATACCACA	c.(88-93)tccattfs	p.I31fs	EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.I42fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.I38fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000602326.1_Frame_Shift_Ins_p.I38fs	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	31					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CCAGGACGAATGGAAGGACTGC	0.49																																						ENST00000602326.1		NA																	0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70						c.(109-114)tccattfs		eukaryotic translation initiation factor 4 gamma, 3																																				SO:0001589	frameshift_variant	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21307660_21307661insTGTGGTATTA	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.90_91insTAATACCACA	1.37:g.21307660_21307661insTGTGGTATTA	ENSP00000264211:p.Ile31fs	False	False		Somatic	0				EIF4G3_ENST00000264211.8_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000400422.1_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374937.3_Frame_Shift_Ins_p.I38fs|EIF4G3_ENST00000374935.3_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000374927.4_Frame_Shift_Ins_p.I31fs|EIF4G3_ENST00000356916.3_Frame_Shift_Ins_p.I42fs	p.I38fs	NM_001198802.1	NP_001185731.1	WXS	Illumina HiSeq	Phase_I	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	7	694_695	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	31					B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Frame_Shift_Ins	INS	ENST00000264211.8	37	c.111_112insTAATACCACA	CCDS214.1																																																																																				0.490	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3	0	NM_003760		1:21307660
ZAK	51776	broad.mit.edu	37	2	174052350	174052351	+	Splice_Site	INS	-	-	TAATTCACATGTCTTATTCTTCCATGACT	rs202049682		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:174052350_174052351insTAATTCACATGTCTTATTCTTCCATGACT	ENST00000375213.3	+	5	492_493	c.414_415insTAATTCACATGTCTTATTCTTCCATGACT	c.(415-417)gtt>TAATTCACATGTCTTATTCTTCCATGACTgtt	p.V139fs	MLTK_ENST00000539448.1_Splice_Site_p.V139fs|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000480606.1_3'UTR|MLTK_ENST00000338983.3_Splice_Site_p.V139fs|MLK7-AS1_ENST00000422703.1_RNA|MLTK_ENST00000409176.2_Splice_Site_p.V139fs|MLTK_ENST00000431503.2_Splice_Site_p.V38fs	NM_016653.2	NP_057737.2	Q9NYL2	MLTK_HUMAN		139	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell death (GO:0008219)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|DNA damage checkpoint (GO:0000077)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|response to radiation (GO:0009314)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)										AGTCAAGAAACGGTAATGTAGT	0.312																																						ENST00000338983.3		NA																	0					NA						c.(415-417)gtt>TAATTCACATGTCTTATTCTTCCATGACTgtt																																						SO:0001630	splice_region_variant	0							g.chr2:174052350_174052351insTAATTCACATGTCTTATTCTTCCATGACT																												ENST00000375213.3:c.415+1->TAATTCACATGTCTTATTCTTCCATGACT	2.37:g.174052350_174052351insTAATTCACATGTCTTATTCTTCCATGACT		False	False		Somatic	0				MLTK_ENST00000375213.3_Splice_Site_p.V139fs|MLTK_ENST00000409176.2_Splice_Site_p.V139fs|MLTK_ENST00000431503.2_Splice_Site_p.V38fs|MLTK_ENST00000539448.1_Splice_Site_p.V139fs|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000419609.1_RNA|MLTK_ENST00000480606.1_3'UTR	p.V139fs	NM_133646.2	NP_598407.1	WXS	Illumina HiSeq	Phase_I					5	609_610	+			NA					B3KPG2|Q53SX1|Q580W8|Q59GY5|Q86YW8|Q9HCC4|Q9HCC5|Q9HDD2|Q9NYE9	Splice_Site	INS	ENST00000375213.3	37	c.414_415insTAATTCACATGTCTTATTCTTCCATGACT	CCDS42777.1																																																																																				0.312	MLTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255401.1	0		Frame_Shift_Ins	2:174052350
SCRN3	79634	broad.mit.edu	37	2	175264809	175264810	+	Frame_Shift_Ins	INS	-	-	AAAACCAGAAAAGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175264809_175264810insAAAACCAGAAAAGT	ENST00000272732.6	+	3	401_402	c.319_320insAAAACCAGAAAAGT	c.(319-321)ctafs	p.L107fs	SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.L100fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	Q0VDG4	SCRN3_HUMAN	secernin 3	107							dipeptidase activity (GO:0016805)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TGAAGAAGCACTATTAGGAATG	0.376																																						ENST00000272732.6		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13						c.(319-321)ctafs		secernin 3																																				SO:0001589	frameshift_variant	79634				proteolysis		dipeptidase activity	g.chr2:175264809_175264810insAAAACCAGAAAAGT	AF279776	CCDS2258.1, CCDS54420.1	2q31	2008-02-05			ENSG00000144306	ENSG00000144306			30382	protein-coding gene	gene with protein product		614967				12221138	Standard	NM_024583		Approved	FLJ23142	uc002uiq.3	Q0VDG4	OTTHUMG00000132332	Exception_encountered	2.37:g.175264809_175264810insAAAACCAGAAAAGT	ENSP00000272732:p.Leu107fs	False	False		Somatic	0				SCRN3_ENST00000409673.3_Frame_Shift_Ins_p.L100fs	p.L107fs	NM_001193528.1|NM_024583.4	NP_001180457.1|NP_078859.2	WXS	Illumina HiSeq	Phase_I	Q0VDG4	SCRN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.229)		3	401_402	+			107					B4DI11|C9JPC1|D3DPE0|Q7L1C5|Q9H5R5	Frame_Shift_Ins	INS	ENST00000272732.6	37	c.319_320insAAAACCAGAAAAGT	CCDS2258.1																																																																																				0.376	SCRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255451.2	0	NM_024583		2:175264809
GPR155	151556	broad.mit.edu	37	2	175346379	175346380	+	In_Frame_Ins	INS	-	-	TAAGTTAATTTTTATTTTTCAAGTGTTTAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175346379_175346380insTAAGTTAATTTTTATTTTTCAAGTGTTTAA	ENST00000392552.2	-	2	543_544	c.305_306insTTAAACACTTGAAAAATAAAAATTAACTTA	c.(304-306)ttc>ttTTAAACACTTGAAAAATAAAAATTAACTTAc	p.102_103ins*TLEK*KLTY	GPR155_ENST00000295500.4_In_Frame_Ins_p.102_103ins*TLEK*KLTY|GPR155_ENST00000392551.2_In_Frame_Ins_p.102_103ins*TLEK*KLTY	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	102					cognition (GO:0050890)|intracellular signal transduction (GO:0035556)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TACTATATAGGAAGGACCAGTC	0.366																																						ENST00000392552.2		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						c.(304-306)ttc>ttTTAAACACTTGAAAAATAAAAATTAACTTAc		G protein-coupled receptor 155																																				SO:0001652	inframe_insertion	151556				intracellular signal transduction|transmembrane transport	integral to membrane		g.chr2:175346379_175346380insTAAGTTAATTTTTATTTTTCAAGTGTTTAA	AY255528	CCDS2259.1, CCDS74605.1	2q31.1	2012-04-10			ENSG00000163328	ENSG00000163328			22951	protein-coding gene	gene with protein product						12679517	Standard	NM_001033045		Approved	DEPDC3, DEP.7, FLJ31819, PGR22	uc002uiu.4	Q7Z3F1	OTTHUMG00000132336	ENST00000392552.2:c.305_306insTTAAACACTTGAAAAATAAAAATTAACTTA	2.37:g.175346379_175346380insTAAGTTAATTTTTATTTTTCAAGTGTTTAA	ENSP00000376335:p.Phe102_Leu103ins*ThrLeuGluLys*LysLeuThrTyr	True	False		Somatic	0				GPR155_ENST00000295500.4_In_Frame_Ins_p.102_103ins*TLEK*KLTY|GPR155_ENST00000392551.2_In_Frame_Ins_p.102_103ins*TLEK*KLTY	p.102_103ins*TLEK*KLTY	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	WXS	Illumina HiSeq	Phase_I	Q7Z3F1	GP155_HUMAN			2	543_544	-			102					B2RCI2|D3DPE2|Q4G0Y6|Q53SJ3|Q53TA8|Q69YG8|Q86SP9|Q8N261|Q8N639|Q8N8K3|Q96MV6	In_Frame_Ins	INS	ENST00000392552.2	37	c.305_306insTTAAACACTTGAAAAATAAAAATTAACTTA	CCDS2259.1																																																																																				0.366	GPR155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255455.1	0	NM_152529		2:175346379
CHRNA1	1134	broad.mit.edu	37	2	175618381	175618382	+	Frame_Shift_Ins	INS	-	-	ATCATGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:175618381_175618382insATCATGT	ENST00000261007.5	-	7	768_769	c.702_703insACATGAT	c.(700-705)acctatfs	p.Y235fs	CHRNA1_ENST00000348749.5_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000409323.1_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000409542.1_Frame_Shift_Ins_p.Y128fs|CHRNA1_ENST00000409219.1_Frame_Shift_Ins_p.Y210fs|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	235					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	CAGCAGGAATAGGTCACGGAGT	0.589																																						ENST00000409219.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						c.(625-630)acctatfs		cholinergic receptor, nicotinic, alpha 1 (muscle)																																				SO:0001589	frameshift_variant	1134				muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr2:175618381_175618382insATCATGT	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.702_703insACATGAT	2.37:g.175618381_175618382insATCATGT	ENSP00000261007:p.Tyr235fs	False	False		Somatic	0				CHRNA1_ENST00000348749.5_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000409542.1_Frame_Shift_Ins_p.Y128fs|CHRNA1_ENST00000409323.1_Frame_Shift_Ins_p.Y210fs|CHRNA1_ENST00000261007.5_Frame_Shift_Ins_p.Y235fs|AC018890.6_ENST00000442996.1_RNA	p.Y210fs			WXS	Illumina HiSeq	Phase_I	P02708	ACHA_HUMAN			6	644_645	-			235					B4DRV6|D3DPE8	Frame_Shift_Ins	INS	ENST00000261007.5	37	c.627_628insACATGAT	CCDS33331.1																																																																																				0.589	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1	0			2:175618381
HECW2	57520	broad.mit.edu	37	2	197138826	197138827	+	Frame_Shift_Ins	INS	-	-	TACTTTTTGCCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:197138826_197138827insTACTTTTTGCCCT	ENST00000260983.3	-	16	3338_3339	c.3156_3157insAGGGCAAAAAGTA	c.(3154-3159)catgcafs	p.A1053fs	HECW2_ENST00000409111.1_Frame_Shift_Ins_p.A697fs	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1053	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGTGGTCCTGCATGTCGAGAAT	0.47																																						ENST00000409111.1		NA																	0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(2086-2091)catgcafs		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2																																				SO:0001589	frameshift_variant	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197138826_197138827insTACTTTTTGCCCT	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3156_3157insAGGGCAAAAAGTA	2.37:g.197138826_197138827insTACTTTTTGCCCT	ENSP00000260983:p.Ala1053fs	False	False		Somatic	0				HECW2_ENST00000260983.2_Frame_Shift_Ins_p.A1053fs	p.A697fs			WXS	Illumina HiSeq	Phase_I	Q9P2P5	HECW2_HUMAN			14	3102_3103	-			1053					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Frame_Shift_Ins	INS	ENST00000260983.3	37	c.2088_2089insAGGGCAAAAAGTA	CCDS33354.1																																																																																				0.470	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	0	NM_020760		2:197138826
EEF1B2	1933	broad.mit.edu	37	2	207026168	207026169	+	Frame_Shift_Ins	INS	-	-	CCTTTTCCAGAAAATACAAAATAACTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:207026168_207026169insCCTTTTCCAGAAAATACAAAATAACTTG	ENST00000392222.2	+	3	677_678	c.302_303insCCTTTTCCAGAAAATACAAAATAACTTG	c.(301-306)attgacfs	p.D102fs	NDUFS1_ENST00000233190.6_5'Flank|NDUFS1_ENST00000432169.1_5'Flank|NDUFS1_ENST00000449699.1_5'Flank|SNORA41_ENST00000384675.1_RNA|EEF1B2_ENST00000236957.5_Frame_Shift_Ins_p.D102fs|NDUFS1_ENST00000423725.1_5'Flank|NDUFS1_ENST00000455934.2_5'Flank|EEF1B2_ENST00000392221.1_Frame_Shift_Ins_p.D102fs|NDUFS1_ENST00000440274.1_5'Flank|NDUFS1_ENST00000457011.1_5'Flank|SNORD51_ENST00000384320.2_RNA	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	102					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)	translation elongation factor activity (GO:0003746)			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						GATGATGACATTGACCTCTTTG	0.485																																						ENST00000392222.2		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						c.(301-306)attgacfs		eukaryotic translation elongation factor 1 beta 2																																				SO:0001589	frameshift_variant	1933					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	g.chr2:207026168_207026169insCCTTTTCCAGAAAATACAAAATAACTTG	X60489	CCDS2367.1	2q33.3	2011-04-28			ENSG00000114942	ENSG00000114942			3208	protein-coding gene	gene with protein product		600655				8250921	Standard	NM_001959		Approved		uc002vbf.1	P24534	OTTHUMG00000132891	Exception_encountered	2.37:g.207026168_207026169insCCTTTTCCAGAAAATACAAAATAACTTG	ENSP00000376056:p.Asp102fs	False	False		Somatic	0				EEF1B2_ENST00000236957.5_Frame_Shift_Ins_p.D102fs|EEF1B2_ENST00000392221.1_Frame_Shift_Ins_p.D102fs	p.D102fs	NM_001959.3	NP_001950.1	WXS	Illumina HiSeq	Phase_I	P24534	EF1B_HUMAN			3	677_678	+			102					A8K795|Q6IBH9	Frame_Shift_Ins	INS	ENST00000392222.2	37	c.302_303insCCTTTTCCAGAAAATACAAAATAACTTG	CCDS2367.1																																																																																				0.485	EEF1B2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336436.1	0	NM_001037663		2:207026168
PRKAG3	53632	broad.mit.edu	37	2	219688575	219688576	+	Frame_Shift_Ins	INS	-	-	AGCTATGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:219688575_219688576insAGCTATGA	ENST00000529249.1	-	13	1694_1695	c.1379_1380insTCATAGCT	c.(1378-1380)gagfs	p.E460fs	PRKAG3_ENST00000545803.1_Frame_Shift_Ins_p.E276fs|PRKAG3_ENST00000439262.2_Frame_Shift_Ins_p.E435fs			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	460	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|glucose transport (GO:0015758)|glycogen biosynthetic process (GO:0005978)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|protein phosphorylation (GO:0006468)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)	AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	Acetylsalicylic acid(DB00945)	GATGCTGGGTCTCGTCCACTAG	0.604																																						ENST00000529249.1		NA																	0				large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(1378-1380)gagfs		protein kinase, AMP-activated, gamma 3 non-catalytic subunit																																				SO:0001589	frameshift_variant	53632				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding	g.chr2:219688575_219688576insAGCTATGA	AF214519	CCDS2424.1	2q35	2012-09-20			ENSG00000115592	ENSG00000115592			9387	protein-coding gene	gene with protein product		604976				10818001	Standard	NM_017431		Approved		uc002vjb.1	Q9UGI9	OTTHUMG00000133078	ENST00000529249.1:c.1379_1380insTCATAGCT	2.37:g.219688575_219688576insAGCTATGA	ENSP00000436068:p.Glu460fs	False	False		Somatic	0				PRKAG3_ENST00000545803.1_Frame_Shift_Ins_p.E276fs|PRKAG3_ENST00000439262.2_Frame_Shift_Ins_p.E435fs	p.E460fs			WXS	Illumina HiSeq	Phase_I	Q9UGI9	AAKG3_HUMAN		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1694_1695	-		Renal(207;0.0474)	460			CBS 4.		Q4QQG8|Q4V779|Q9NRL1	Frame_Shift_Ins	INS	ENST00000529249.1	37	c.1379_1380insTCATAGCT	CCDS2424.1																																																																																				0.604	PRKAG3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385992.1	0			2:219688575
RIF1	55183	broad.mit.edu	37	2	152321847	152321848	+	In_Frame_Ins	INS	-	-	TTCTTT	rs139052966		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152321847_152321848insTTCTTT	ENST00000243326.5	+	29	6296_6297	c.5813_5814insTTCTTT	c.(5812-5817)tctgaa>tcTTCTTTtgaa	p.1938_1939SE>SSFE	RIF1_ENST00000428287.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000430328.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000453091.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000444746.2_In_Frame_Ins_p.1938_1939SE>SSFE			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ACTGGTATTTCTGAAGAAGCAG	0.351																																						ENST00000243326.4		NA																	0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5812-5817)tctgaa>tcTTCTTTtgaa		RAP1 interacting factor homolog (yeast)																																				SO:0001652	inframe_insertion	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321847_152321848insTTCTTT	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	Exception_encountered	2.37:g.152321847_152321848insTTCTTT	ENSP00000243326:p.Ser1938_Glu1939insSerPhe	False	False		Somatic	0				RIF1_ENST00000428287.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000430328.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000453091.2_In_Frame_Ins_p.1938_1939SE>SSFE|RIF1_ENST00000444746.2_In_Frame_Ins_p.1938_1939SE>SSFE	p.1938_1939SE>SSFE			WXS	Illumina HiSeq	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6296_6297	+			1938			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	In_Frame_Ins	INS	ENST00000243326.5	37	c.5813_5814insTTCTTT	CCDS2194.1																																																																																				0.351	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0			2:152321847
RIF1	55183	broad.mit.edu	37	2	152321849	152321850	+	In_Frame_Ins	INS	-	-	TCTCCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:152321849_152321850insTCTCCA	ENST00000243326.5	+	29	6298_6299	c.5815_5816insTCTCCA	c.(5815-5817)gaa>gTCTCCAaa	p.1939_1939E>VSK	RIF1_ENST00000428287.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000430328.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000453091.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000444746.2_In_Frame_Ins_p.1939_1939E>VSK			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGTATTTCTGAAGAAGCAGCA	0.351																																						ENST00000243326.4		NA																	0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(5815-5817)gaa>gTCTCCAaa		RAP1 interacting factor homolog (yeast)																																				SO:0001652	inframe_insertion	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152321849_152321850insTCTCCA	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	Exception_encountered	2.37:g.152321849_152321850insTCTCCA	ENSP00000243326:p.Glu1939delinsValSerLys	False	False		Somatic	0				RIF1_ENST00000428287.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000430328.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000453091.2_In_Frame_Ins_p.1939_1939E>VSK|RIF1_ENST00000444746.2_In_Frame_Ins_p.1939_1939E>VSK	p.1939_1939E>VSK			WXS	Illumina HiSeq	Phase_I	Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	6298_6299	+			1939			Interaction with condensed chromosomes in telophase.		A0AVS0|Q9NS16	In_Frame_Ins	INS	ENST00000243326.5	37	c.5815_5816insTCTCCA	CCDS2194.1																																																																																				0.351	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3	0			2:152321849
TTN	7273	broad.mit.edu	37	2	179428453	179428454	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:179428453_179428454insA	ENST00000591111.1	-	276	77706_77707	c.77482_77483insT	c.(77482-77484)ccafs	p.P25828fs	TTN_ENST00000589042.1_Frame_Shift_Ins_p.P27469fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P24901fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P18596fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P18529fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P18404fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25828					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)			AGGACCTGGTGGCTTATAAGGA	0.48																																						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.(82405-82407)ccafs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428453_179428454insA	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.77482_77483insT	2.37:g.179428453_179428454insA	ENSP00000465570:p.Pro25828fs	False	False		Somatic	0				TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.P25828fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.P18529fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.P24901fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.P18404fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.P18596fs	p.P27469fs	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	82629_82630	-			25828					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	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.82405_82406insT																																																																																					0.480	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179428453
TTN	7273	broad.mit.edu	37	2	179428455	179428456	+	Frame_Shift_Ins	INS	-	-	CATCTGT	rs370365162		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:179428455_179428456insCATCTGT	ENST00000591111.1	-	276	77704_77705	c.77480_77481insACAGATG	c.(77479-77481)aagfs	p.-25827fs	TTN_ENST00000589042.1_Frame_Shift_Ins_p.-27468fs|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-24900fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.-18595fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.-18528fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.-18403fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GACCTGGTGGCTTATAAGGATT	0.48																																						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.(82402-82404)aagfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428455_179428456insCATCTGT	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.77480_77481insACAGATG	2.37:g.179428455_179428456insCATCTGT	ENSP00000465570:p.Lys25827fs	False	False		Somatic	0				TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.-25827fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.-18528fs|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.-24900fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.-18403fs|TTN_ENST00000342175.6_Frame_Shift_Ins_p.-18595fs	p.-27468fs	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	82627_82628	-			NA					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	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.82403_82404insACAGATG																																																																																					0.480	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179428455
ZDBF2	57683	broad.mit.edu	37	2	207173128	207173129	+	Frame_Shift_Ins	INS	-	-	TTAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:207173128_207173129insTTAG	ENST00000374423.3	+	5	4262_4263	c.3876_3877insTTAG	c.(3877-3879)cttfs	p.-1293fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CTCATGAACCCCTTCAGTCCGT	0.381																																						ENST00000374423.3		NA																	0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(3877-3879)cttfs		zinc finger, DBF-type containing 2																																				SO:0001589	frameshift_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207173128_207173129insTTAG	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	Exception_encountered	2.37:g.207173128_207173129insTTAG	ENSP00000363545:p.Leu1293fs	True	False		Somatic	0					p.-1293fs	NM_020923.1	NP_065974.1	WXS	Illumina HiSeq	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	4262_4263	+			NA					Q6ZNP7|Q6ZSN8	Frame_Shift_Ins	INS	ENST00000374423.3	37	c.3876_3877insTTAG	CCDS46501.1																																																																																				0.381	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	0	NM_020923		2:207173128
COL6A3	1293	broad.mit.edu	37	2	238285600	238285601	+	In_Frame_Ins	INS	-	-	ATGGTAGAGAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr2:238285600_238285601insATGGTAGAGAAA	ENST00000295550.4	-	7	3336_3337	c.2884_2885insTTTCTCTACCAT	c.(2884-2886)aac>aTTTCTCTACCATac	p.962_962N>ISLPY	COL6A3_ENST00000392003.2_In_Frame_Ins_p.555_555N>ISLPY|COL6A3_ENST00000472056.1_In_Frame_Ins_p.355_355N>ISLPY|COL6A3_ENST00000347401.3_In_Frame_Ins_p.761_761N>ISLPY|COL6A3_ENST00000392004.3_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000353578.4_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000346358.4_In_Frame_Ins_p.762_762N>ISLPY|COL6A3_ENST00000409809.1_In_Frame_Ins_p.756_756N>ISLPY	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	962	Nonhelical region.|VWFA 5. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCTTCAGGTTACTTGCTGGC	0.559																																						ENST00000295550.4		NA																	0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(2884-2886)aac>aTTTCTCTACCATac		collagen, type VI, alpha 3																																				SO:0001652	inframe_insertion	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238285600_238285601insATGGTAGAGAAA	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.2884_2885insTTTCTCTACCAT	2.37:g.238285600_238285601insATGGTAGAGAAA	ENSP00000295550:p.Asn962delinsIleSerLeuProTyr	False	False		Somatic	0				COL6A3_ENST00000472056.1_In_Frame_Ins_p.355_355N>ISLPY|COL6A3_ENST00000346358.4_In_Frame_Ins_p.762_762N>ISLPY|COL6A3_ENST00000347401.3_In_Frame_Ins_p.761_761N>ISLPY|COL6A3_ENST00000392003.2_In_Frame_Ins_p.555_555N>ISLPY|COL6A3_ENST00000353578.4_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000392004.3_In_Frame_Ins_p.756_756N>ISLPY|COL6A3_ENST00000409809.1_In_Frame_Ins_p.756_756N>ISLPY	p.962_962N>ISLPY	NM_004369.3	NP_004360.2	WXS	Illumina HiSeq	Phase_I	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	7	3336_3337	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	962			Nonhelical region.|VWFA 5.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	In_Frame_Ins	INS	ENST00000295550.4	37	c.2884_2885insTTTCTCTACCAT	CCDS33412.1																																																																																				0.559	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	0	NM_004369		2:238285600
SLC4A7	9497	broad.mit.edu	37	3	27460104	27460105	+	Frame_Shift_Ins	INS	-	-	TTTAATAAAATTTTTTTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:27460104_27460105insTTTAATAAAATTTTTTTTG	ENST00000295736.5	-	11	1574_1575	c.1504_1505insCAAAAAAAATTTTATTAAA	c.(1504-1506)tatfs	p.Y502fs	SLC4A7_ENST00000446700.1_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000425128.2_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000454389.1_Frame_Shift_Ins_p.Y511fs|SLC4A7_ENST00000455077.1_Frame_Shift_Ins_p.Y383fs|RN7SL859P_ENST00000578725.1_RNA|SLC4A7_ENST00000388777.4_Frame_Shift_Ins_p.Y52fs|SLC4A7_ENST00000435667.2_Frame_Shift_Ins_p.Y387fs|SLC4A7_ENST00000437179.1_Frame_Shift_Ins_p.Y383fs|SLC4A7_ENST00000445684.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000428386.1_Frame_Shift_Ins_p.Y378fs|SLC4A7_ENST00000440156.1_Frame_Shift_Ins_p.Y498fs	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	502					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	TTTTGCTTTATAAGCTACATCA	0.312																																						ENST00000295736.5		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						c.(1504-1506)tatfs		solute carrier family 4, sodium bicarbonate cotransporter, member 7																																				SO:0001589	frameshift_variant	9497					apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr3:27460104_27460105insTTTAATAAAATTTTTTTTG	AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.1504_1505insCAAAAAAAATTTTATTAAA	3.37:g.27460104_27460105insTTTAATAAAATTTTTTTTG	ENSP00000295736:p.Tyr502fs	False	False		Somatic	0				SLC4A7_ENST00000446700.1_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000437179.1_Frame_Shift_Ins_p.Y383fs|SLC4A7_ENST00000445684.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000440156.1_Frame_Shift_Ins_p.Y498fs|SLC4A7_ENST00000425128.2_Frame_Shift_Ins_p.Y494fs|SLC4A7_ENST00000454389.1_Frame_Shift_Ins_p.Y511fs|SLC4A7_ENST00000428386.1_Frame_Shift_Ins_p.Y378fs|SLC4A7_ENST00000388777.4_Frame_Shift_Ins_p.Y52fs|SLC4A7_ENST00000435667.2_Frame_Shift_Ins_p.Y387fs|SLC4A7_ENST00000455077.1_Frame_Shift_Ins_p.Y383fs	p.Y502fs	NM_003615.4	NP_003606.3	WXS	Illumina HiSeq	Phase_I	Q9Y6M7	S4A7_HUMAN			11	1574_1575	-			502					A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Frame_Shift_Ins	INS	ENST00000295736.5	37	c.1504_1505insCAAAAAAAATTTTATTAAA	CCDS33721.1																																																																																				0.312	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	0	NM_003615		3:27460104
SACM1L	22908	broad.mit.edu	37	3	45744994	45744995	+	In_Frame_Ins	INS	-	-	AATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:45744994_45744995insAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	ENST00000389061.5	+	2	301_302	c.97_98insAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	c.(97-99)att>aAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAGtt	p.33_33I>K*NEDF*KTTYYDNYRV	SACM1L_ENST00000541314.1_In_Frame_Ins_p.14_15insNEMKTSKKLLIMTITE|SACM1L_ENST00000418611.1_De_novo_Start_OutOfFrame|SACM1L_ENST00000464524.1_3'UTR	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	33					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		CGTACTTACCATTGACCGTGTG	0.337																																						ENST00000418611.1		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23								SAC1 suppressor of actin mutations 1-like (yeast)																																				SO:0001652	inframe_insertion	22908					Golgi apparatus		g.chr3:45744994_45744995insAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	Exception_encountered	3.37:g.45744994_45744995insAATGAAATGAAGACTTCTAAAAAACTACTTATTATGACAATTACAGAG	ENSP00000373713:p.Ile33delinsLys*AsnGluAspPhe*LysThrThrTyrTyrAspAsnTyrArgVal	False	False		Somatic	0				SACM1L_ENST00000541314.1_In_Frame_Ins_p.14_15insNEMKTSKKLLIMTITE|SACM1L_ENST00000389061.5_In_Frame_Ins_p.33_33I>K*NEDF*KTTYYDNYRV|SACM1L_ENST00000464524.1_3'UTR				WXS	Illumina HiSeq	Phase_I	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	0	362_363	+			NA					A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Translation_Start_Site	INS	ENST00000389061.5	37		CCDS33745.1																																																																																				0.337	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	0	NM_014016		3:45744994
TLR9	54106	broad.mit.edu	37	3	52256448	52256449	+	In_Frame_Ins	INS	-	-	GAAGTC	rs200907891		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:52256448_52256449insGAAGTC	ENST00000360658.2	-	2	2516_2517	c.1883_1884insGACTTC	c.(1882-1884)agc>agGACTTCc	p.627_628insRT	TLR9_ENST00000597542.1_In_Frame_Ins_p.651_652insRT|TLR9_ENST00000494383.1_In_Frame_Ins_p.781_782ER>EDFR	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	627					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	AGATCAAACCGCTCAGGCCTTG	0.624																																						ENST00000494383.1		NA																	0				endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30						c.(2341-2346)gagcgg>gagGACTTCcgg		toll-like receptor 9	Chloroquine(DB00608)																																			SO:0001652	inframe_insertion	54106				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity	g.chr3:52256448_52256449insGAAGTC	AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.1883_1884insGACTTC	3.37:g.52256448_52256449insGAAGTC	ENSP00000353874:p.Leu627_Ser628insArgThr	False	False		Somatic	0				TLR9_ENST00000360658.2_In_Frame_Ins_p.627_628insRT|TLR9_ENST00000597542.1_In_Frame_Ins_p.651_652insRT	p.781_782ER>EDFR			WXS	Illumina HiSeq	Phase_I	Q9NR96	TLR9_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	5	2342_2343	-			680					B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	In_Frame_Ins	INS	ENST00000360658.2	37	c.2343_2344insGACTTC	CCDS2848.1																																																																																				0.624	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1	0			3:52256448
STPG1	90529	broad.mit.edu	37	1	24706298	24706299	+	In_Frame_Ins	INS	-	-	TTACTAAAATAAAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:24706298_24706299insTTACTAAAATAAAAG	ENST00000374409.1	-	5	560_561	c.306_307insCTTTTATTTTAGTAA	c.(304-309)gacacc>gacCTTTTATTTTAGTAAacc	p.102_103DT>DLLF**T	STPG1_ENST00000440416.1_In_Frame_Ins_p.55_56DT>DLLF**T|STPG1_ENST00000337248.4_In_Frame_Ins_p.102_103DT>DLLF**T|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_In_Frame_Ins_p.55_56DT>DLLF**T	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	102					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											GAAATGATGGTGTCCAATCGGG	0.426																																						ENST00000374409.1		NA																	0					NA						c.(304-309)gacacc>gacCTTTTATTTTAGTAAacc		sperm-tail PG-rich repeat containing 1																																				SO:0001652	inframe_insertion	90529							g.chr1:24706298_24706299insTTACTAAAATAAAAG	BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.306_307insCTTTTATTTTAGTAA	1.37:g.24706298_24706299insTTACTAAAATAAAAG	ENSP00000363530:p.Asp102_Thr103insLeuLeuPhe**	False	False		Somatic	0				STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_In_Frame_Ins_p.55_56DT>DLLF**T|STPG1_ENST00000440416.1_In_Frame_Ins_p.55_56DT>DLLF**T|STPG1_ENST00000337248.4_In_Frame_Ins_p.102_103DT>DLLF**T	p.102_103DT>DLLF**T	NM_001199012.1	NP_001185941.1	WXS	Illumina HiSeq	Phase_I					5	560_561	-			NA					Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	In_Frame_Ins	INS	ENST00000374409.1	37	c.306_307insCTTTTATTTTAGTAA	CCDS55581.1																																																																																				0.426	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	0	NM_178122		1:24706298
EYA3	2140	broad.mit.edu	37	1	28362170	28362171	+	Frame_Shift_Ins	INS	-	-	TTGATCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:28362170_28362171insTTGATCA	ENST00000373871.3	-	6	485_486	c.245_246insTGATCAA	c.(244-246)tcafs	p.-82fs	EYA3_ENST00000545175.1_Frame_Shift_Ins_p.-29fs|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000436342.2_5'UTR|EYA3_ENST00000540618.1_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000373863.3_Frame_Shift_Ins_p.-82fs	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	EYA transcriptional coactivator and phosphatase 3						anatomical structure morphogenesis (GO:0009653)|double-strand break repair (GO:0006302)|histone dephosphorylation (GO:0016576)|multicellular organismal development (GO:0007275)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of DNA repair (GO:0045739)|regulation of transcription, DNA-templated (GO:0006355)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		AAACAGGAACTGAGAGAATATG	0.401																																						ENST00000373871.3		NA																	0				breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15						c.(244-246)tcafs		eyes absent homolog 3 (Drosophila)																																				SO:0001589	frameshift_variant	2140				anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity	g.chr1:28362170_28362171insTTGATCA	U81602	CCDS316.1, CCDS60050.1, CCDS60051.1, CCDS60052.1	1p36	2014-06-19	2014-06-19		ENSG00000158161	ENSG00000158161		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3521	protein-coding gene	gene with protein product		601655	"""eyes absent (Drosophila) homolog 3"", ""eyes absent homolog 3 (Drosophila)"""			9020840	Standard	NM_001990		Approved	DKFZp686C132	uc001bpi.2	Q99504	OTTHUMG00000003916	ENST00000373871.3:c.245_246insTGATCAA	1.37:g.28362170_28362171insTTGATCA	ENSP00000362978:p.Ser82fs	True	False		Somatic	0				EYA3_ENST00000373863.3_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000540618.1_Frame_Shift_Ins_p.-82fs|EYA3_ENST00000545175.1_Frame_Shift_Ins_p.-29fs|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373864.1_Intron|EYA3_ENST00000436342.2_5'UTR	p.-82fs			WXS	Illumina HiSeq	Phase_I	Q99504	EYA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)	6	485_486	-		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	NA					A8K190|B4DIR7|B4DNZ7|O95463|Q8IVX7|Q99813	Frame_Shift_Ins	INS	ENST00000373871.3	37	c.245_246insTGATCAA	CCDS316.1																																																																																				0.401	EYA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011184.1	0	NM_001990		1:28362170
RBM15B	29890	broad.mit.edu	37	3	51430706	51430707	+	Frame_Shift_Ins	INS	-	-	TTTTACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:51430706_51430707insTTTTACT	ENST00000323686.4	+	1	1976_1977	c.1876_1877insTTTTACT	c.(1876-1878)cggfs	p.R626fs		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	626					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCAGTCAGAGCGGGGCTCCGAC	0.614																																						ENST00000323686.4		NA																	0				endometrium(4)|large_intestine(5)|lung(3)	12						c.(1876-1878)cggfs		RNA binding motif protein 15B																																				SO:0001589	frameshift_variant	29890				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr3:51430706_51430707insTTTTACT	AL831838	CCDS33764.1	3p21.1	2013-02-12			ENSG00000179837	ENSG00000259956		"""RNA binding motif (RRM) containing"""	24303	protein-coding gene	gene with protein product		612602				16129689	Standard	NM_013286		Approved	HUMAGCGB, OTT3	uc003dbd.3	Q8NDT2	OTTHUMG00000156896	Exception_encountered	3.37:g.51430706_51430707insTTTTACT	ENSP00000313890:p.Arg626fs	True	False		Somatic	0					p.R626fs	NM_013286.4	NP_037418.3	WXS	Illumina HiSeq	Phase_I	Q8NDT2	RB15B_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	1	1976_1977	+			626					A4QPG7|Q6QE19|Q9BV96	Frame_Shift_Ins	INS	ENST00000323686.4	37	c.1876_1877insTTTTACT	CCDS33764.1																																																																																				0.614	RBM15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346489.1	0	NM_013286		3:51430706
KBTBD8	84541	broad.mit.edu	37	3	67054436	67054437	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:67054436_67054437insT	ENST00000417314.2	+	3	1094_1095	c.1045_1046insT	c.(1045-1047)gagfs	p.E349fs	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.E323fs			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	349						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AAGCAGCAGTGAGGTCTCCATC	0.441																																						ENST00000417314.2		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1045-1047)gagfs		kelch repeat and BTB (POZ) domain containing 8																																				SO:0001589	frameshift_variant	84541							g.chr3:67054436_67054437insT	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	Exception_encountered	3.37:g.67054436_67054437insT	ENSP00000401878:p.Glu349fs	False	False		Somatic	0				KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.E323fs|KBTBD8_ENST00000460576.1_Intron	p.E349fs			WXS	Illumina HiSeq	Phase_I	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1094_1095	+		Lung NSC(201;0.0765)	349					B4DTW6|Q96JI5	Frame_Shift_Ins	INS	ENST00000417314.2	37	c.1045_1046insT	CCDS2906.2																																																																																				0.441	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	0	NM_032505		3:67054436
KBTBD8	84541	broad.mit.edu	37	3	67054437	67054438	+	Frame_Shift_Ins	INS	-	-	CAGCCATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:67054437_67054438insCAGCCATT	ENST00000417314.2	+	3	1095_1096	c.1046_1047insCAGCCATT	c.(1045-1050)gaggtcfs	p.EV349fs	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.EV323fs			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	349						cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		AGCAGCAGTGAGGTCTCCATCG	0.441																																						ENST00000417314.2		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20						c.(1045-1050)gaggtcfs		kelch repeat and BTB (POZ) domain containing 8																																				SO:0001589	frameshift_variant	84541							g.chr3:67054437_67054438insCAGCCATT	AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	Exception_encountered	3.37:g.67054437_67054438insCAGCCATT	ENSP00000401878:p.Glu349fs	False	False		Somatic	0				KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.EV323fs|KBTBD8_ENST00000460576.1_Intron	p.EV349fs			WXS	Illumina HiSeq	Phase_I	Q8NFY9	KBTB8_HUMAN		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)	3	1095_1096	+		Lung NSC(201;0.0765)	349					B4DTW6|Q96JI5	Frame_Shift_Ins	INS	ENST00000417314.2	37	c.1046_1047insCAGCCATT	CCDS2906.2																																																																																				0.441	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352189.1	0	NM_032505		3:67054437
EPHA6	285220	broad.mit.edu	37	3	97251389	97251389	+	Splice_Site	DEL	T	T	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:97251389delT	ENST00000514100.1	+	8	804		c.e8+2		EPHA6_ENST00000502694.1_Splice_Site|EPHA6_ENST00000389672.5_Splice_Site|EPHA6_ENST00000442602.2_Splice_Site	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6							integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TCACCAAAAGTAAGTTACTGA	0.358																																						ENST00000514100.1		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						c.e8+2		EPH receptor A6							51.0	50.0	50.0					3																	97251389		1862	4120	5982	SO:0001630	splice_region_variant	285220					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr3:97251389delT	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.562+2T>-	3.37:g.97251389delT		True	False		Somatic	1				EPHA6_ENST00000442602.2_Splice_Site|EPHA6_ENST00000502694.1_Splice_Site|EPHA6_ENST00000389672.5_Splice_Site		NM_001278300.1	NP_001265229.1	WXS	Illumina HiSeq	Phase_I	Q9UF33	EPHA6_HUMAN			8	804	+			NA					D6RAL5	Splice_Site	DEL	ENST00000514100.1	37																																																																																						0.358	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	0	NM_001080448	Intron	3:97251389
DZIP3	9666	broad.mit.edu	37	3	108351911	108351912	+	Frame_Shift_Ins	INS	-	-	CAATTAAGACTACCCAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:108351911_108351912insCAATTAAGACTACCCAT	ENST00000361582.3	+	9	1038_1039	c.808_809insCAATTAAGACTACCCAT	c.(808-810)agtfs	p.S270fs	DZIP3_ENST00000463306.1_Frame_Shift_Ins_p.S270fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	270					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GAAGAACACCAGTTATAAGGTA	0.233																																						ENST00000361582.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(808-810)agtfs		DAZ interacting zinc finger protein 3																																				SO:0001589	frameshift_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108351911_108351912insCAATTAAGACTACCCAT	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	Exception_encountered	3.37:g.108351911_108351912insCAATTAAGACTACCCAT	ENSP00000355028:p.Ser270fs	False	False		Somatic	0				DZIP3_ENST00000463306.1_Frame_Shift_Ins_p.S270fs	p.S270fs	NM_014648.3	NP_055463.1	WXS	Illumina HiSeq	Phase_I	Q86Y13	DZIP3_HUMAN			9	1038_1039	+			270					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Frame_Shift_Ins	INS	ENST00000361582.3	37	c.808_809insCAATTAAGACTACCCAT	CCDS2952.1																																																																																				0.233	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	0	NM_014648		3:108351911
SLC35G2	80723	broad.mit.edu	37	3	136573909	136573910	+	Frame_Shift_Ins	INS	-	-	ACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:136573909_136573910insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	ENST00000446465.2	+	2	1235_1236	c.607_608insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	c.(607-609)acafs	p.T203fs	RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.T203fs|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000461864.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		AGCCACAACTACAGTCTTCAGT	0.401																																						ENST00000446465.2		NA																	0					NA						c.(607-609)acafs		solute carrier family 35, member G2																																				SO:0001589	frameshift_variant	80723					Golgi apparatus|integral to membrane		g.chr3:136573909_136573910insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	Exception_encountered	3.37:g.136573909_136573910insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	ENSP00000400839:p.Thr203fs	False	False		Somatic	0				RP11-85F14.5_ENST00000461864.1_RNA|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Ins_p.T203fs	p.T203fs	NM_025246.2	NP_079522.2	WXS	Illumina HiSeq	Phase_I	Q8TBE7	TMM22_HUMAN			2	1235_1236	+			203			DUF6 1.			Frame_Shift_Ins	INS	ENST00000446465.2	37	c.607_608insACACAGATAAGACCTGAAAAACAGAACGGATAAAAAT	CCDS3091.1																																																																																				0.401	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357317.1	0	NM_025246		3:136573909
IGSF10	285313	broad.mit.edu	37	3	151165331	151165332	+	Frame_Shift_Ins	INS	-	-	AATATAAACCCAACCATGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:151165331_151165332insAATATAAACCCAACCATGT	ENST00000282466.3	-	4	2436_2437	c.2437_2438insACATGGTTGGGTTTATATT	c.(2437-2439)gctfs	p.A813fs		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	813					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				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)			AAGGTTCAAAGCTTTAGTGGCC	0.47																																						ENST00000282466.3		NA																	0				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.(2437-2439)gctfs		immunoglobulin superfamily, member 10																																				SO:0001589	frameshift_variant	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151165331_151165332insAATATAAACCCAACCATGT	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.2437_2438insACATGGTTGGGTTTATATT	3.37:g.151165331_151165332insAATATAAACCCAACCATGT	ENSP00000282466:p.Ala813fs	True	False		Somatic	0					p.A813fs	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	2436_2437	-			813					Q86YJ9|Q8N772|Q8NA84	Frame_Shift_Ins	INS	ENST00000282466.3	37	c.2437_2438insACATGGTTGGGTTTATATT	CCDS3160.1																																																																																				0.470	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	0	NM_178822		3:151165331
SEC62	7095	broad.mit.edu	37	3	169700583	169700584	+	Frame_Shift_Ins	INS	-	-	GGCATAAATTAGCAACACAAGAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:169700583_169700584insGGCATAAATTAGCAACACAAGAG	ENST00000337002.4	+	4	398_399	c.340_341insGGCATAAATTAGCAACACAAGAG	c.(340-342)aaafs	p.K114fs	SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K114fs|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	114					cotranslational protein targeting to membrane (GO:0006613)|posttranslational protein targeting to membrane (GO:0006620)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)	protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						agataaaggaaaagctgaaagt	0.282																																						ENST00000337002.4		NA																	0				NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						c.(340-342)aaafs		SEC62 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	7095				cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity	g.chr3:169700583_169700584insGGCATAAATTAGCAACACAAGAG	D87127	CCDS3210.1	3q26.2	2008-04-22	2008-04-22	2008-04-22	ENSG00000008952	ENSG00000008952			11846	protein-coding gene	gene with protein product		602173	"""translocation protein 1"""	TLOC1		9020021, 10799540	Standard	NM_003262		Approved	Dtrp1, HTP1	uc003fgh.3	Q99442	OTTHUMG00000158753	Exception_encountered	3.37:g.169700583_169700584insGGCATAAATTAGCAACACAAGAG	ENSP00000337688:p.Lys114fs	True	False		Somatic	0				SEC62-AS1_ENST00000479626.1_RNA|SEC62_ENST00000480708.1_Frame_Shift_Ins_p.K114fs	p.K114fs	NM_003262.3	NP_003253.1	WXS	Illumina HiSeq	Phase_I	Q99442	SEC62_HUMAN			4	398_399	+			114					D3DNQ0|O00682|O00729	Frame_Shift_Ins	INS	ENST00000337002.4	37	c.340_341insGGCATAAATTAGCAACACAAGAG	CCDS3210.1																																																																																				0.282	SEC62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352043.1	0			3:169700583
ATP13A5	344905	broad.mit.edu	37	3	192992915	192992916	+	Frame_Shift_Ins	INS	-	-	TATATTTTCAATGAATTAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:192992915_192992916insTATATTTTCAATGAATTAAA	ENST00000342358.4	-	30	3689_3690	c.3572_3573insTTTAATTCATTGAAAATATA	c.(3571-3573)ggcfs	p.-1191fs	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		GGCTTTCATAGCCTCCGTTGAT	0.45																																						ENST00000342358.4		NA																	0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(3571-3573)ggcfs		ATPase type 13A5																																				SO:0001589	frameshift_variant	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:192992915_192992916insTATATTTTCAATGAATTAAA	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.3572_3573insTTTAATTCATTGAAAATATA	3.37:g.192992915_192992916insTATATTTTCAATGAATTAAA	ENSP00000341942:p.Gly1191fs	False	False		Somatic	0				ATP13A5_ENST00000495496.1_5'UTR	p.-1191fs	NM_198505.2	NP_940907.2	WXS	Illumina HiSeq	Phase_I	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	30	3689_3690	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		NA					Q6UWS4|Q6ZWL0	Frame_Shift_Ins	INS	ENST00000342358.4	37	c.3572_3573insTTTAATTCATTGAAAATATA	CCDS33914.1																																																																																				0.450	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	0	NM_198505		3:192992915
LMLN	89782	broad.mit.edu	37	3	197701344	197701345	+	Splice_Site	INS	-	-	ACATAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197701344_197701345insACATAC	ENST00000330198.4	+	2	338_339	c.316_317insACATAC	c.(316-318)gag>gACATACag	p.106_106E>DIQ	LMLN_ENST00000482695.1_Splice_Site_p.54_54E>DIQ|LMLN_ENST00000332636.5_Splice_Site_p.54_54E>DIQ|LMLN_ENST00000420910.2_Splice_Site_p.106_106E>DIQ	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	106			E -> D (in dbSNP:rs7373165).		cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		AAGTGTTGAAGAGTAAGTACAC	0.297																																						ENST00000330198.4		NA																	0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(316-318)gag>gACATACag		leishmanolysin-like (metallopeptidase M8 family)																																				SO:0001630	splice_region_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197701344_197701345insACATAC	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.317+1->ACATAC	3.37:g.197701344_197701345insACATAC		True	False		Somatic	0				LMLN_ENST00000420910.2_Splice_Site_p.106_106E>DIQ|LMLN_ENST00000332636.5_Splice_Site_p.54_54E>DIQ|LMLN_ENST00000482695.1_Splice_Site_p.54_54E>DIQ	p.106_106E>DIQ	NM_033029.3	NP_149018.2	WXS	Illumina HiSeq	Phase_I	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	2	338_339	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	106		E -> D (in dbSNP:rs7373165).			B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Splice_Site	INS	ENST00000330198.4	37	c.316_317insACATAC	CCDS3332.1																																																																																				0.297	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	0	NM_033029	In_Frame_Ins	3:197701344
LMLN	89782	broad.mit.edu	37	3	197701346	197701347	+	Splice_Site	INS	-	-	ATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197701346_197701347insATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	ENST00000330198.4	+	2	339		c.e2+1		LMLN_ENST00000482695.1_Splice_Site|LMLN_ENST00000332636.5_Splice_Site|LMLN_ENST00000420910.2_Splice_Site	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)						cell adhesion (GO:0007155)|mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		GTGTTGAAGAGTAAGTACACCA	0.292																																						ENST00000330198.4		NA																	0				endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.e2+1		leishmanolysin-like (metallopeptidase M8 family)																																				SO:0001630	splice_region_variant	89782				cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	g.chr3:197701346_197701347insATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	AJ312398	CCDS3332.1, CCDS46988.1	3q29	2008-02-04			ENSG00000185621	ENSG00000185621	3.4.24.36		15991	protein-coding gene	gene with protein product		609380					Standard	NM_033029		Approved	Gp63, Msp	uc010iar.3	Q96KR4	OTTHUMG00000155375	ENST00000330198.4:c.317+1->ATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC	3.37:g.197701346_197701347insATTAACCCACTGCAATCCAAACTTAAAATTAATGAAC		True	False		Somatic	0				LMLN_ENST00000420910.2_Splice_Site|LMLN_ENST00000332636.5_Splice_Site|LMLN_ENST00000482695.1_Splice_Site		NM_033029.3	NP_149018.2	WXS	Illumina HiSeq	Phase_I	Q96KR4	LMLN_HUMAN	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)	2	339	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	NA					B3LDG9|B3LDH0|C9J796|F8WB28|Q96KR5	Splice_Site	INS	ENST00000330198.4	37		CCDS3332.1																																																																																				0.292	LMLN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339701.1	0	NM_033029	Intron	3:197701346
RNF212	285498	broad.mit.edu	37	4	1075255	1075256	+	Splice_Site	INS	-	-	CTAATCCATACAGTTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:1075255_1075256insCTAATCCATACAGTTGA	ENST00000433731.2	-	7	477	c.416_416insTCAACTGTATGGATTAG	c.(415-417)aca>aTCAACTGTATGGATTAGca	p.T139fs	RNF212_ENST00000382968.5_Splice_Site_p.T139fs			Q495C1	RN212_HUMAN	ring finger protein 212	139					chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		GTGTGGTTTTGCTGGAAGAGTG	0.495																																						ENST00000382968.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10						c.(415-417)aca>aTCAACTGTATGGATTAGca		ring finger protein 212																																				SO:0001630	splice_region_variant	285498						zinc ion binding	g.chr4:1075255_1075256insCTAATCCATACAGTTGA	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.416-1->TCAACTGTATGGATTAG	4.37:g.1075255_1075256insCTAATCCATACAGTTGA		False	False		Somatic	0				RNF212_ENST00000433731.2_Splice_Site_p.T139fs	p.T139fs	NM_001131034.3|NM_194439.4	NP_001124506.1|NP_919420.1	WXS	Illumina HiSeq	Phase_I	Q495C1	RN212_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)	7	513	-			139					C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	Splice_Site	INS	ENST00000433731.2	37	c.416_416insTCAACTGTATGGATTAG	CCDS46996.1																																																																																				0.495	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359124.2	0	NM_194439	Frame_Shift_Ins	4:1075255
HTT	3064	broad.mit.edu	37	4	3188389	3188390	+	Frame_Shift_Ins	INS	-	-	CTCATTTAAAAGCATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:3188389_3188390insCTCATTTAAAAGCATT	ENST00000355072.5	+	38	5077_5078	c.4932_4933insCTCATTTAAAAGCATT	c.(4933-4935)tccfs	p.S1645fs		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1645					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGGCCCCTTCCTCCCTCCGTCC	0.46																																						ENST00000355072.5		NA																	0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(4933-4935)tccfs		huntingtin																																				SO:0001589	frameshift_variant	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3188389_3188390insCTCATTTAAAAGCATT	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	Exception_encountered	4.37:g.3188389_3188390insCTCATTTAAAAGCATT	ENSP00000347184:p.Ser1645fs	True	False		Somatic	0					p.S1645fs	NM_002111.6	NP_002102.4	WXS	Illumina HiSeq	Phase_I	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	38	5077_5078	+		all_epithelial(65;0.18)	1645					Q9UQB7	Frame_Shift_Ins	INS	ENST00000355072.5	37	c.4932_4933insCTCATTTAAAAGCATT	CCDS43206.1																																																																																				0.460	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	0	NM_002111		4:3188389
PUM1	9698	broad.mit.edu	37	1	31439012	31439013	+	Frame_Shift_Ins	INS	-	-	ATATGCTCTTAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:31439012_31439013insATATGCTCTTAAGA	ENST00000257075.5	-	13	1995_1996	c.1902_1903insTCTTAAGAGCATAT	c.(1900-1905)cagcagfs	p.Q635fs	PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q393fs|PUM1_ENST00000373747.3_Frame_Shift_Ins_p.Q636fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q671fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q491fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q576fs|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q635fs|SNORD85_ENST00000363311.1_RNA|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q609fs	NM_014676.2	NP_055491.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	635					membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTATTgggctgctgctggggct	0.559																																						ENST00000373747.3		NA																	0				breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1903-1908)cagcagfs		pumilio RNA-binding family member 1																																				SO:0001589	frameshift_variant	9698				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding	g.chr1:31439012_31439013insATATGCTCTTAAGA	AF315592	CCDS338.1, CCDS44099.1	1p35.2	2013-09-02	2013-09-02		ENSG00000134644	ENSG00000134644			14957	protein-coding gene	gene with protein product		607204	"""pumilio (Drosophila) homolog 1"", ""pumilio homolog 1 (Drosophila)"""				Standard	NM_001020658		Approved	PUMH1, KIAA0099	uc001bsh.1	Q14671	OTTHUMG00000003795	ENST00000257075.5:c.1902_1903insTCTTAAGAGCATAT	1.37:g.31439012_31439013insATATGCTCTTAAGA	ENSP00000257075:p.Gln635fs	True	False		Somatic	0				PUM1_ENST00000373741.4_Frame_Shift_Ins_p.Q671fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.Q609fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.Q576fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.Q491fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.Q635fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.Q393fs|PUM1_ENST00000490546.1_5'UTR|PUM1_ENST00000257075.5_Frame_Shift_Ins_p.Q635fs	p.Q636fs	NM_001020658.1	NP_001018494.1	WXS	Illumina HiSeq	Phase_I	Q14671	PUM1_HUMAN		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)	13	2004_2005	-		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	635					A8K6W4|B4DG92|D3DPN3|E9PCJ0|Q53HH5|Q5VXY7|Q9HAN1	Frame_Shift_Ins	INS	ENST00000257075.5	37	c.1905_1906insTCTTAAGAGCATAT	CCDS338.1																																																																																				0.559	PUM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000010671.1	0			1:31439012
CLSPN	63967	broad.mit.edu	37	1	36202191	36202192	+	Frame_Shift_Ins	INS	-	-	GAATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:36202191_36202192insGAATT	ENST00000318121.3	-	25	3982_3983	c.3925_3926insAATTC	c.(3925-3927)ccafs	p.P1309fs	CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.P1256fs|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.P1245fs|CLSPN_ENST00000466308.1_5'UTR	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1309					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CATGAAAGATGGACCCCTTTTC	0.421																																						ENST00000318121.3		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(3925-3927)ccafs		claspin																																				SO:0001589	frameshift_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36202191_36202192insGAATT	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3925_3926insAATTC	1.37:g.36202191_36202192insGAATT	ENSP00000312995:p.Pro1309fs	False	False		Somatic	0				CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000373220.3_Frame_Shift_Ins_p.P1245fs|CLSPN_ENST00000520551.1_Frame_Shift_Ins_p.P1256fs	p.P1309fs	NM_022111.3	NP_071394.2	WXS	Illumina HiSeq	Phase_I	Q9HAW4	CLSPN_HUMAN			25	3982_3983	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	1309					A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Frame_Shift_Ins	INS	ENST00000318121.3	37	c.3925_3926insAATTC	CCDS396.1																																																																																				0.421	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	0	NM_022111		1:36202191
SHROOM3	57619	broad.mit.edu	37	4	77680837	77680838	+	Frame_Shift_Ins	INS	-	-	GTCC	rs372860442		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:77680837_77680838insGTCC	ENST00000296043.6	+	9	6291_6292	c.5338_5339insGTCC	c.(5338-5340)aatfs	p.N1780fs	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1780	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATGTCAATGAAAAGAAG	0.465																																						ENST00000296043.6		NA																	0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5338-5340)aatfs		shroom family member 3																																				SO:0001589	frameshift_variant	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77680837_77680838insGTCC	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	Exception_encountered	4.37:g.77680837_77680838insGTCC	ENSP00000296043:p.Asn1780fs	False	False		Somatic	0				RP11-359D14.3_ENST00000449007.1_RNA	p.N1780fs	NM_020859.3	NP_065910.3	WXS	Illumina HiSeq	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		9	6291_6292	+			1780			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Frame_Shift_Ins	INS	ENST00000296043.6	37	c.5338_5339insGTCC	CCDS3579.2																																																																																				0.465	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	0	NM_020859		4:77680837
SHROOM3	57619	broad.mit.edu	37	4	77680839	77680840	+	In_Frame_Ins	INS	-	-	TCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:77680839_77680840insTCA	ENST00000296043.6	+	9	6293_6294	c.5340_5341insTCA	c.(5341-5343)gaa>TCAgaa	p.1780_1781insS	RP11-359D14.2_ENST00000452412.1_RNA|RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1780	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CAGATGTCAATGAAAAGAAGGT	0.46																																						ENST00000296043.6		NA																	0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(5341-5343)gaa>TCAgaa		shroom family member 3																																				SO:0001652	inframe_insertion	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77680839_77680840insTCA	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	Exception_encountered	4.37:g.77680839_77680840insTCA	ENSP00000296043:p.Asn1780_Glu1781insSer	True	False		Somatic	0				RP11-359D14.3_ENST00000449007.1_RNA	p.1780_1781insS	NM_020859.3	NP_065910.3	WXS	Illumina HiSeq	Phase_I	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		9	6293_6294	+			1780			ASD2.		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	In_Frame_Ins	INS	ENST00000296043.6	37	c.5340_5341insTCA	CCDS3579.2																																																																																				0.460	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	0	NM_020859		4:77680839
THAP9	79725	broad.mit.edu	37	4	83838309	83838310	+	Frame_Shift_Ins	INS	-	-	CTGGACT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:83838309_83838310insCTGGACT	ENST00000302236.5	+	5	995_996	c.944_945insCTGGACT	c.(943-948)acgccafs	p.P316fs	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	316					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTGATGAAACGCCACTTGCTT	0.416																																						ENST00000302236.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(943-948)acgccafs		THAP domain containing 9																																				SO:0001589	frameshift_variant	79725						DNA binding|metal ion binding	g.chr4:83838309_83838310insCTGGACT	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	Exception_encountered	4.37:g.83838309_83838310insCTGGACT	ENSP00000305533:p.Pro316fs	False	False		Somatic	0				LIN54_ENST00000505905.1_Intron	p.P316fs	NM_024672.4	NP_078948.3	WXS	Illumina HiSeq	Phase_I	Q9H5L6	THAP9_HUMAN			5	995_996	+		Hepatocellular(203;0.114)	316					B3KRE2|Q59AC9	Frame_Shift_Ins	INS	ENST00000302236.5	37	c.944_945insCTGGACT	CCDS3598.1																																																																																				0.416	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	0	NM_024672		4:83838309
CENPE	1062	broad.mit.edu	37	4	104057403	104057404	+	Frame_Shift_Ins	INS	-	-	ATTTAGTATTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:104057403_104057404insATTTAGTATTC	ENST00000265148.3	-	40	6505_6506	c.6416_6417insGAATACTAAAT	c.(6415-6417)aaafs	p.K2139fs	CENPE_ENST00000380026.3_Frame_Shift_Ins_p.K2018fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2139	Kinetochore-binding domain.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		AGAGGTTTGCTTTAACTCTCAT	0.361																																						ENST00000380026.3		NA																	0				NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101						c.(6052-6054)aaafs		centromere protein E, 312kDa																																				SO:0001589	frameshift_variant	1062				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	g.chr4:104057403_104057404insATTTAGTATTC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.6416_6417insGAATACTAAAT	4.37:g.104057403_104057404insATTTAGTATTC	ENSP00000265148:p.Lys2139fs	True	False		Somatic	0				CENPE_ENST00000265148.3_Frame_Shift_Ins_p.K2139fs	p.K2018fs			WXS	Illumina HiSeq	Phase_I	Q02224	CENPE_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)	38	6141_6142	-			2070					A6NKY9|A8K2U7|Q4LE75	Frame_Shift_Ins	INS	ENST00000265148.3	37	c.6053_6054insGAATACTAAAT	CCDS34042.1																																																																																				0.361	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			4:104057403
CCDC109B	55013	broad.mit.edu	37	4	110606512	110606513	+	Frame_Shift_Ins	INS	-	-	GCAGATGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:110606512_110606513insGCAGATGA	ENST00000394650.4	+	7	1055_1056	c.922_923insGCAGATGA	c.(922-924)gacfs	p.D308fs		NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B	308					mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		GTTAAAAGAAGACCTTGCTAAG	0.381																																						ENST00000394650.4		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9						c.(922-924)gacfs		coiled-coil domain containing 109B																																				SO:0001589	frameshift_variant	55013					integral to membrane		g.chr4:110606512_110606513insGCAGATGA	BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	Exception_encountered	4.37:g.110606512_110606513insGCAGATGA	ENSP00000378145:p.Asp308fs	False	False		Somatic	0					p.D308fs	NM_017918.4	NP_060388.2	WXS	Illumina HiSeq	Phase_I	Q9NWR8	C109B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)	7	1055_1056	+			308					A8K4Y3|Q6IAC1	Frame_Shift_Ins	INS	ENST00000394650.4	37	c.922_923insGCAGATGA	CCDS3683.2																																																																																				0.381	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254865.1	0	NM_017918		4:110606512
LRIT3	345193	broad.mit.edu	37	4	110791066	110791067	+	In_Frame_Ins	INS	-	-	AAGAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:110791066_110791067insAAGAAA	ENST00000594814.1	+	4	1161_1162	c.1161_1162insAAGAAA	c.(1162-1164)tcc>AAGAAAtcc	p.387_388insKK	LRIT3_ENST00000409621.2_In_Frame_Ins_p.204_205insKK|LRIT3_ENST00000379920.3_In_Frame_Ins_p.342_343insKK|LRIT3_ENST00000327908.3_In_Frame_Ins_p.204_205insKK	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	387	Ser-rich.				regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CATATCTTTGGtcctcttcctt	0.47																																						ENST00000327908.3		NA																	0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(613-615)tcc>AAGAAAtcc		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3																																				SO:0001652	inframe_insertion	345193					integral to membrane		g.chr4:110791066_110791067insAAGAAA	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	Exception_encountered	4.37:g.110791066_110791067insAAGAAA	ENSP00000469759:p.Trp387_Ser388insLysLys	False	False		Somatic	0				LRIT3_ENST00000409621.2_In_Frame_Ins_p.204_205insKK|LRIT3_ENST00000594814.1_In_Frame_Ins_p.387_388insKK|LRIT3_ENST00000379920.3_In_Frame_Ins_p.342_343insKK	p.204_205insKK			WXS	Illumina HiSeq	Phase_I	Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1376_1377	+			342			LRRCT.		C9J1C2|Q6ZTG1	In_Frame_Ins	INS	ENST00000594814.1	37	c.612_613insAAGAAA	CCDS3688.3																																																																																				0.470	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	0	NM_198506		4:110791066
BBS12	166379	broad.mit.edu	37	4	123663407	123663408	+	In_Frame_Ins	INS	-	-	CTGTTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:123663407_123663408insCTGTTG	ENST00000314218.3	+	2	553_554	c.360_361insCTGTTG	c.(361-363)aac>CTGTTGaac	p.120_121insLL	BBS12_ENST00000542236.1_In_Frame_Ins_p.120_121insLL	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	120					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGAAGGCTTAAACTTTTGTAG	0.366									Bardet-Biedl syndrome																													ENST00000314218.3		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						c.(361-363)aac>CTGTTGaac		Bardet-Biedl syndrome 12																																				SO:0001652	inframe_insertion	166379	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cellular protein metabolic process	cilium	ATP binding	g.chr4:123663407_123663408insCTGTTG	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	Exception_encountered	4.37:g.123663407_123663408insCTGTTG	ENSP00000319062:p.Leu120_Asn121insLeuLeu	True	False		Somatic	0				BBS12_ENST00000542236.1_In_Frame_Ins_p.120_121insLL	p.120_121insLL	NM_152618.2	NP_689831.2	WXS	Illumina HiSeq	Phase_I	Q6ZW61	BBS12_HUMAN			2	553_554	+			120					D3DNX5|Q7Z342|Q7Z482|Q8NAB8	In_Frame_Ins	INS	ENST00000314218.3	37	c.360_361insCTGTTG	CCDS3728.1																																																																																				0.366	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256710.1	0	NM_152618		4:123663407
FBXW7	55294	broad.mit.edu	37	4	153268210	153268211	+	In_Frame_Ins	INS	-	-	TTGAAATGCCTCACTTAATTGCTGCAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:153268210_153268211insTTGAAATGCCTCACTTAATTGCTGCAA	ENST00000281708.4	-	4	1826_1827	c.597_598insTTGCAGCAATTAAGTGAGGCATTTCAA	c.(595-600)cttgta>cttTTGCAGCAATTAAGTGAGGCATTTCAAgta	p.199_200LV>LLQQLSEAFQV	FBXW7_ENST00000263981.5_In_Frame_Ins_p.119_120LV>LLQQLSEAFQV|FBXW7_ENST00000296555.5_In_Frame_Ins_p.81_82LV>LLQQLSEAFQV|FBXW7_ENST00000603841.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000393956.3_In_Frame_Ins_p.23_24LV>LLQQLSEAFQV|FBXW7_ENST00000603548.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	199					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GAACATGGTACAAGCCCAGTGG	0.401			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4		NA		Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(595-600)cttgta>cttTTGCAGCAATTAAGTGAGGCATTTCAAgta		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase																																				SO:0001652	inframe_insertion	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153268210_153268211insTTGAAATGCCTCACTTAATTGCTGCAA	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.597_598insTTGCAGCAATTAAGTGAGGCATTTCAA	4.37:g.153268210_153268211insTTGAAATGCCTCACTTAATTGCTGCAA	ENSP00000281708:p.Leu199_Val200insLeuGlnGlnLeuSerGluAlaPheGln	False	False		Somatic	0				FBXW7_ENST00000603548.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000296555.5_In_Frame_Ins_p.81_82LV>LLQQLSEAFQV|FBXW7_ENST00000603841.1_In_Frame_Ins_p.199_200LV>LLQQLSEAFQV|FBXW7_ENST00000393956.3_In_Frame_Ins_p.23_24LV>LLQQLSEAFQV|FBXW7_ENST00000263981.5_In_Frame_Ins_p.119_120LV>LLQQLSEAFQV	p.199_200LV>LLQQLSEAFQV	NM_033632.3	NP_361014.1	WXS	Illumina HiSeq	Phase_I	Q969H0	FBXW7_HUMAN			4	1826_1827	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	199					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	In_Frame_Ins	INS	ENST00000281708.4	37	c.597_598insTTGCAGCAATTAAGTGAGGCATTTCAA	CCDS3777.1																																																																																				0.401	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1	0			4:153268210
KLHL2	11275	broad.mit.edu	37	4	166235300	166235301	+	Frame_Shift_Ins	INS	-	-	AGAGATTTATATCATATTAGGTTTATTTAAATGAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:166235300_166235301insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	ENST00000226725.6	+	13	1850_1851	c.1591_1592insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	c.(1591-1593)atgfs	p.M531fs	KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	531					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGATATGAACATGTGCAGAAGA	0.356																																						ENST00000226725.6		NA																	0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1591-1593)atgfs		kelch-like family member 2																																				SO:0001589	frameshift_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166235300_166235301insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	Exception_encountered	4.37:g.166235300_166235301insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	ENSP00000226725:p.Met531fs	False	False		Somatic	0				KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000509028.1_3'UTR	p.M531fs	NM_007246.3	NP_009177.3	WXS	Illumina HiSeq	Phase_I	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	13	1850_1851	+	all_hematologic(180;0.221)		531					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Frame_Shift_Ins	INS	ENST00000226725.6	37	c.1591_1592insAGAGATTTATATCATATTAGGTTTATTTAAATGAC	CCDS34094.1																																																																																				0.356	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1	0			4:166235300
AADAT	51166	broad.mit.edu	37	4	171008362	171008363	+	In_Frame_Ins	INS	-	-	GGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:171008362_171008363insGGA	ENST00000337664.4	-	3	549_550	c.273_274insTCC	c.(271-276)caaata>caaTCCata	p.91_92QI>QSI	AADAT_ENST00000509167.1_In_Frame_Ins_p.95_96QI>QSI|AADAT_ENST00000515480.1_In_Frame_Ins_p.91_92QI>QSI|AADAT_ENST00000353187.2_In_Frame_Ins_p.91_92QI>QSI	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	91					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		TGCAATTTTATTTGTAACTGTT	0.361																																						ENST00000337664.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(271-276)caaata>caaTCCata		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)																																			SO:0001652	inframe_insertion	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:171008362_171008363insGGA	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.273_274insTCC	4.37:g.171008362_171008363insGGA	ENSP00000336808:p.Gln91_Ile92insSer	True	False		Somatic	0				AADAT_ENST00000509167.1_In_Frame_Ins_p.95_96QI>QSI|AADAT_ENST00000353187.2_In_Frame_Ins_p.91_92QI>QSI|AADAT_ENST00000515480.1_In_Frame_Ins_p.91_92QI>QSI	p.91_92QI>QSI	NM_016228.3	NP_057312.1	WXS	Illumina HiSeq	Phase_I	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	3	549_550	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	91					B3KP84|Q9UL02	In_Frame_Ins	INS	ENST00000337664.4	37	c.273_274insTCC	CCDS3814.1																																																																																				0.361	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	0	NM_016228		4:171008362
AADAT	51166	broad.mit.edu	37	4	171008365	171008367	+	In_Frame_Del	DEL	GTA	GTA	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GTA	GTA	-	-	GTA	GTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:171008365_171008367delGTA	ENST00000337664.4	-	3	545_547	c.269_271delTAC	c.(268-273)ttacaa>taa	p.90_91LQ>*	AADAT_ENST00000509167.1_In_Frame_Del_p.94_95LQ>*|AADAT_ENST00000515480.1_In_Frame_Del_p.90_91LQ>*|AADAT_ENST00000353187.2_In_Frame_Del_p.90_91LQ>*	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	90					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|kynurenine metabolic process (GO:0070189)|L-kynurenine metabolic process (GO:0097052)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	mitochondrial matrix (GO:0005759)	2-aminoadipate transaminase activity (GO:0047536)|kynurenine-oxoglutarate transaminase activity (GO:0016212)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)		AATTTTATTTGTAACTGTTTTAG	0.355																																						ENST00000337664.4		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11						c.(268-273)ttacaa>taa		aminoadipate aminotransferase	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)																																			SO:0001651	inframe_deletion	51166				2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity	g.chr4:171008365_171008367delGTA	AF097994	CCDS3814.1, CCDS75209.1	4q33	2010-12-09			ENSG00000109576	ENSG00000109576	2.6.1.39		17929	protein-coding gene	gene with protein product	"""kynurenine aminotransferase II"", ""L kynurenine/alpha aminoadipate aminotransferase"""	611754				12126930, 10441733	Standard	NM_182662		Approved	KATII, KAT2	uc003isr.3	Q8N5Z0	OTTHUMG00000160912	ENST00000337664.4:c.269_271delTAC	4.37:g.171008365_171008367delGTA	ENSP00000336808:p.Leu90_Gln91delins*	False	False		Somatic	1				AADAT_ENST00000509167.1_In_Frame_Del_p.94_95LQ>*|AADAT_ENST00000353187.2_In_Frame_Del_p.90_91LQ>*|AADAT_ENST00000515480.1_In_Frame_Del_p.90_91LQ>*	p.90_91LQ>*	NM_016228.3	NP_057312.1	WXS	Illumina HiSeq	Phase_I	Q8N5Z0	AADAT_HUMAN		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	3	545_547	-		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)	90					B3KP84|Q9UL02	In_Frame_Del	DEL	ENST00000337664.4	37	c.269_271delTAC	CCDS3814.1																																																																																				0.355	AADAT-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362952.1	0	NM_016228		4:171008365
TENM3	55714	broad.mit.edu	37	4	183600995	183600996	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:183600995_183600996insA	ENST00000511685.1	+	8	1626_1627	c.1503_1504insA	c.(1504-1506)gcafs	p.A502fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.A502fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	502					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										ATGGGAAAAATGCAGAGCAGGT	0.436																																						ENST00000511685.1		NA																	0					NA						c.(1504-1506)gcafs		teneurin transmembrane protein 3																																				SO:0001589	frameshift_variant	55714							g.chr4:183600995_183600996insA	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	Exception_encountered	4.37:g.183600995_183600996insA	ENSP00000424226:p.Ala502fs	False	False		Somatic	0				TENM3_ENST00000406950.2_Frame_Shift_Ins_p.A502fs	p.A502fs			WXS	Illumina HiSeq	Phase_I					8	1626_1627	+			NA					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	c.1503_1504insA	CCDS47165.1																																																																																				0.436	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1	0			4:183600995
TENM3	55714	broad.mit.edu	37	4	183600996	183600997	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:183600996_183600997insT	ENST00000511685.1	+	8	1627_1628	c.1504_1505insT	c.(1504-1506)gcafs	p.A502fs	TENM3_ENST00000406950.2_Frame_Shift_Ins_p.A502fs			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	502					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TGGGAAAAATGCAGAGCAGGTG	0.431																																						ENST00000511685.1		NA																	0					NA						c.(1504-1506)gcafs		teneurin transmembrane protein 3																																				SO:0001589	frameshift_variant	55714							g.chr4:183600996_183600997insT	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	Exception_encountered	4.37:g.183600996_183600997insT	ENSP00000424226:p.Ala502fs	False	False		Somatic	0				TENM3_ENST00000406950.2_Frame_Shift_Ins_p.A502fs	p.A502fs			WXS	Illumina HiSeq	Phase_I					8	1627_1628	+			NA					Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Frame_Shift_Ins	INS	ENST00000511685.1	37	c.1504_1505insT	CCDS47165.1																																																																																				0.431	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1	0			4:183600996
CASP3	836	broad.mit.edu	37	4	185550531	185550532	+	In_Frame_Ins	INS	-	-	AAGTGAGAAGATGGTATATTTGGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:185550531_185550532insAAGTGAGAAGATGGTATATTTGGT	ENST00000308394.4	-	8	990_991	c.728_729insACCAAATATACCATCTTCTCACTT	c.(727-729)gtg>gtACCAAATATACCATCTTCTCACTTg	p.243_244insPNIPSSHL	CASP3_ENST00000523916.1_In_Frame_Ins_p.243_244insPNIPSSHL|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000517513.1_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	243					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	ATTCTGTTGCCACCTTTCGGTT	0.416																																						ENST00000308394.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(727-729)gtg>gtACCAAATATACCATCTTCTCACTTg		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)																																			SO:0001652	inframe_insertion	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550531_185550532insAAGTGAGAAGATGGTATATTTGGT	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.728_729insACCAAATATACCATCTTCTCACTT	4.37:g.185550531_185550532insAAGTGAGAAGATGGTATATTTGGT	ENSP00000311032:p.Val243_Ala244insProAsnIleProSerSerHisLeu	False	False		Somatic	0				CASP3_ENST00000523916.1_In_Frame_Ins_p.243_244insPNIPSSHL|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	p.243_244insPNIPSSHL	NM_004346.3	NP_004337.2	WXS	Illumina HiSeq	Phase_I	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	8	990_991	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	243					A8K5M2|D3DP53|Q96AN1|Q96KP2	In_Frame_Ins	INS	ENST00000308394.4	37	c.728_729insACCAAATATACCATCTTCTCACTT	CCDS3836.1																																																																																				0.416	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	0	NM_004346		4:185550531
CASP3	836	broad.mit.edu	37	4	185550533	185550534	+	In_Frame_Ins	INS	-	-	TGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr4:185550533_185550534insTGT	ENST00000308394.4	-	8	988_989	c.726_727insACA	c.(724-729)aaggtg>aagACAgtg	p.242_243KV>KTV	CASP3_ENST00000523916.1_In_Frame_Ins_p.242_243KV>KTV|CASP3_ENST00000393585.2_3'UTR|CASP3_ENST00000517513.1_3'UTR	NM_004346.3	NP_004337.2	P42574	CASP3_HUMAN	caspase 3, apoptosis-related cysteine peptidase	242					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell homeostasis (GO:0001782)|cell fate commitment (GO:0045165)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte differentiation (GO:0030218)|execution phase of apoptosis (GO:0097194)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glial cell apoptotic process (GO:0034349)|heart development (GO:0007507)|hippo signaling (GO:0035329)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|keratinocyte differentiation (GO:0030216)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|proteolysis (GO:0006508)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|release of cytochrome c from mitochondria (GO:0001836)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|response to wounding (GO:0009611)|sensory perception of sound (GO:0007605)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:0097200)|peptidase activity (GO:0008233)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	Minocycline(DB01017)	TCTGTTGCCACCTTTCGGTTAA	0.416																																						ENST00000308394.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12						c.(724-729)aaggtg>aagACAgtg		caspase 3, apoptosis-related cysteine peptidase	Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641)																																			SO:0001652	inframe_insertion	836				activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor	cytosol|mitochondrion|nucleoplasm|plasma membrane	cysteine-type endopeptidase activity|protein binding	g.chr4:185550533_185550534insTGT	BC016926	CCDS3836.1	4q34	2008-02-05	2005-08-17		ENSG00000164305	ENSG00000164305		"""Caspases"""	1504	protein-coding gene	gene with protein product		600636	"""caspase 3, apoptosis-related cysteine protease"""			8780721	Standard	NM_004346		Approved	CPP32, CPP32B, Yama, apopain	uc003iwi.3	P42574	OTTHUMG00000133681	ENST00000308394.4:c.726_727insACA	4.37:g.185550533_185550534insTGT	ENSP00000311032:p.Lys242_Val243insThr	True	False		Somatic	0				CASP3_ENST00000523916.1_In_Frame_Ins_p.242_243KV>KTV|CASP3_ENST00000517513.1_3'UTR|CASP3_ENST00000393585.2_3'UTR	p.242_243KV>KTV	NM_004346.3	NP_004337.2	WXS	Illumina HiSeq	Phase_I	P42574	CASP3_HUMAN		all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161)	8	988_989	-		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592)	242					A8K5M2|D3DP53|Q96AN1|Q96KP2	In_Frame_Ins	INS	ENST00000308394.4	37	c.726_727insACA	CCDS3836.1																																																																																				0.416	CASP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257885.2	0	NM_004346		4:185550533
TRIO	7204	broad.mit.edu	37	5	14399169	14399170	+	Frame_Shift_Ins	INS	-	-	AAAAATAAAAACTGATGCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:14399169_14399170insAAAAATAAAAACTGATGCA	ENST00000344204.4	+	30	4628_4629	c.4604_4605insAAAAATAAAAACTGATGCA	c.(4603-4608)agcaaafs	p.SK1535fs	TRIO_ENST00000537187.1_Frame_Shift_Ins_p.SK1535fs|TRIO_ENST00000509967.2_Frame_Shift_Ins_p.SK1486fs	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTTG	0.356																																						ENST00000344204.4		NA																	0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(4603-4608)agcaaafs		trio Rho guanine nucleotide exchange factor																																				SO:0001589	frameshift_variant	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14399169_14399170insAAAAATAAAAACTGATGCA	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	Exception_encountered	5.37:g.14399169_14399170insAAAAATAAAAACTGATGCA	ENSP00000339299:p.Ser1535fs	True	False		Somatic	0				TRIO_ENST00000537187.1_Frame_Shift_Ins_p.SK1535fs|TRIO_ENST00000509967.2_Frame_Shift_Ins_p.SK1486fs	p.SK1535fs	NM_007118.2	NP_009049.2	WXS	Illumina HiSeq	Phase_I	O75962	TRIO_HUMAN			30	4628_4629	+	Lung NSC(4;0.000742)		1535			PH 1.		D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Frame_Shift_Ins	INS	ENST00000344204.4	37	c.4604_4605insAAAAATAAAAACTGATGCA	CCDS3883.1																																																																																				0.356	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	0	NM_007118		5:14399169
AP3B1	8546	broad.mit.edu	37	5	77423982	77423983	+	In_Frame_Ins	INS	-	-	AGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:77423982_77423983insAGG	ENST00000255194.6	-	17	2014_2015	c.1839_1840insCCT	c.(1837-1842)gataga>gatCCTaga	p.613_614DR>DPR	AP3B1_ENST00000519295.1_In_Frame_Ins_p.564_565DR>DPR	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		AAATGATCTCTATCTATTAAAA	0.371									Hermansky-Pudlak syndrome																													ENST00000519295.1		NA																	0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1690-1695)gataga>gatCCTaga		adaptor-related protein complex 3, beta 1 subunit																																				SO:0001652	inframe_insertion	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77423982_77423983insAGG	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1839_1840insCCT	5.37:g.77423982_77423983insAGG	ENSP00000255194:p.Asp613_Arg614insPro	True	False		Somatic	0				AP3B1_ENST00000255194.6_In_Frame_Ins_p.613_614DR>DPR	p.564_565DR>DPR	NM_003664.3	NP_003655.3	WXS	Illumina HiSeq	Phase_I	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	17	1963_1964	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	613					E5RJ68|O00580|Q7Z393|Q9HD66	In_Frame_Ins	INS	ENST00000255194.6	37	c.1692_1693insCCT	CCDS4041.1																																																																																				0.371	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	0			5:77423982
AP3B1	8546	broad.mit.edu	37	5	77423984	77423985	+	Splice_Site	INS	-	-	AG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:77423984_77423985insAG	ENST00000255194.6	-	17	2013	c.1838_1838insCT	c.(1837-1839)gat>gCTat	p.D613fs	AP3B1_ENST00000519295.1_Splice_Site_p.D564fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	613					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGATCTCTATCTATTAAAAAT	0.366									Hermansky-Pudlak syndrome																													ENST00000519295.1		NA																	0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(1690-1692)gat>gCTat		adaptor-related protein complex 3, beta 1 subunit																																				SO:0001630	splice_region_variant	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77423984_77423985insAG	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1838-1->CT	5.37:g.77423984_77423985insAG		True	False		Somatic	0				AP3B1_ENST00000255194.6_Splice_Site_p.D613fs	p.D564fs	NM_003664.3	NP_003655.3	WXS	Illumina HiSeq	Phase_I	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	17	1962	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	613					E5RJ68|O00580|Q7Z393|Q9HD66	Splice_Site	INS	ENST00000255194.6	37	c.1691_1691insCT	CCDS4041.1																																																																																				0.366	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2	0		Frame_Shift_Ins	5:77423984
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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
CHD1	1105	broad.mit.edu	37	5	98192165	98192167	+	In_Frame_Del	DEL	AGG	AGG	-	rs398102328|rs79267787|rs138635992|rs61749618	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:98192165_98192167delAGG	ENST00000284049.3	-	35	5199_5201	c.5050_5052delCCT	c.(5050-5052)cctdel	p.P1684del		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1684					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)	p.P1684delP(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGGAGCCATAAGGAGATCTCTGA	0.453														1065	0.21266	0.3411	0.2262	5008	,	,		18993	0.0427		0.2763	False		,,,				2504	0.1391					ENST00000284049.3		NA																	1	Deletion - In frame(1)	p.P1684delP(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49						c.(5050-5052)cctdel		chromodomain helicase DNA binding protein 1	Epirubicin(DB00445)			1429,2837		256,917,960						5.8	1.0		dbSNP_130	90	2258,5994		309,1640,2177	no	coding	CHD1	NM_001270.2		565,2557,3137	A1A1,A1R,RR		27.3631,33.4974,29.4536				3687,8831				SO:0001651	inframe_deletion	1105				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	g.chr5:98192165_98192167delAGG	AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.5050_5052delCCT	5.37:g.98192165_98192167delAGG	ENSP00000284049:p.Pro1684del	False	False		Somatic	1					p.P1684del	NM_001270.2	NP_001261.2	WXS	Illumina HiSeq	Phase_I	O14646	CHD1_HUMAN		COAD - Colon adenocarcinoma(37;0.0717)	35	5199_5201	-		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)	1684					Q17RZ3	In_Frame_Del	DEL	ENST00000284049.3	37	c.5050_5052delCCT	CCDS34204.1																																																																																				0.453	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370295.1	0	NM_001270		5:98192165
DMXL1	1657	broad.mit.edu	37	5	118507561	118507562	+	Frame_Shift_Ins	INS	-	-	TAAAAAATAAAAGCATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:118507561_118507562insTAAAAAATAAAAGCATA	ENST00000311085.8	+	25	6658_6659	c.6578_6579insTAAAAAATAAAAGCATA	c.(6577-6582)gtagttfs	p.V2194fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2194fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2194										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAAAACAGTAGTTGCCAATC	0.406																																						ENST00000311085.8		NA																	0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6577-6582)gtagttfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118507561_118507562insTAAAAAATAAAAGCATA	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	Exception_encountered	5.37:g.118507561_118507562insTAAAAAATAAAAGCATA	ENSP00000309690:p.Val2194fs	False	False		Somatic	0				DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2194fs	p.V2194fs	NM_005509.4	NP_005500.4	WXS	Illumina HiSeq	Phase_I	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	25	6658_6659	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2194						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.6578_6579insTAAAAAATAAAAGCATA	CCDS4125.1																																																																																				0.406	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	0	NM_005509		5:118507561
MACF1	23499	broad.mit.edu	37	1	39888208	39888209	+	Splice_Site	INS	-	-	CTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39888208_39888209insCTA	ENST00000372915.3	+	58	16080		c.e58+1		MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000361689.2_Splice_Site			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAATAAAAAGGTGAGTGACAAT	0.396																																						ENST00000372915.3		NA																	0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.e58+1		microtubule-actin crosslinking factor 1																																				SO:0001630	splice_region_variant	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39888208_39888209insCTA	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15993+1->CTA	1.37:g.39888208_39888209insCTA		True	False		Somatic	0				MACF1_ENST00000545844.1_Splice_Site|MACF1_ENST00000361689.2_Splice_Site|MACF1_ENST00000564288.1_Splice_Site|MACF1_ENST00000539005.1_Splice_Site|MACF1_ENST00000289893.4_Splice_Site|MACF1_ENST00000567887.1_Splice_Site|MACF1_ENST00000317713.7_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16080	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	NA					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Splice_Site	INS	ENST00000372915.3	37																																																																																						0.396	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	0	NM_033044	Intron	1:39888208
RLF	6018	broad.mit.edu	37	1	40704145	40704146	+	Frame_Shift_Ins	INS	-	-	ATGTTTATTTTTATAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:40704145_40704146insATGTTTATTTTTATAAT	ENST00000372771.4	+	8	3798_3799	c.3771_3772insATGTTTATTTTTATAAT	c.(3772-3774)gaafs	p.E1258fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1258					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AAACAGATTTGGAATCATCTTG	0.411																																						ENST00000372771.4		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68						c.(3772-3774)gaafs		rearranged L-myc fusion																																				SO:0001589	frameshift_variant	6018				chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr1:40704145_40704146insATGTTTATTTTTATAAT		CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	Exception_encountered	1.37:g.40704145_40704146insATGTTTATTTTTATAAT	ENSP00000361857:p.Glu1258fs	False	False		Somatic	0					p.E1258fs	NM_012421.3	NP_036553.2	WXS	Illumina HiSeq	Phase_I	Q13129	RLF_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)		8	3798_3799	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	1258					Q14CQ1|Q9NU60	Frame_Shift_Ins	INS	ENST00000372771.4	37	c.3771_3772insATGTTTATTTTTATAAT	CCDS448.1																																																																																				0.411	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015767.1	0	NM_012421		1:40704145
CCDC30	728621	broad.mit.edu	37	1	43047133	43047134	+	In_Frame_Ins	INS	-	-	ACATAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:43047133_43047134insACATAG	ENST00000340612.4	+	7	1168_1169	c.1168_1169insACATAG	c.(1168-1170)aca>aACATAGca	p.390_390T>NIA	CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	390						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAAAGAAGCAACACAAAATGAA	0.406																																						ENST00000340612.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						c.(1168-1170)aca>aACATAGca		coiled-coil domain containing 30																																				SO:0001652	inframe_insertion	728621							g.chr1:43047133_43047134insACATAG	AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	Exception_encountered	1.37:g.43047133_43047134insACATAG	ENSP00000340378:p.Thr390delinsAsnIleAla	False	False		Somatic	0				CCDC30_ENST00000342022.4_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000390640.4_In_Frame_Ins_p.179_179T>NIA|CCDC30_ENST00000428554.2_In_Frame_Ins_p.390_390T>NIA|CCDC30_ENST00000507855.1_In_Frame_Ins_p.179_179T>NIA	p.390_390T>NIA			WXS	Illumina HiSeq	Phase_I	Q5VVM6	CCD30_HUMAN			7	1168_1169	+			390					Q14F06|Q5VVM5	In_Frame_Ins	INS	ENST00000340612.4	37	c.1168_1169insACATAG	CCDS30690.1																																																																																				0.406	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019524.3	0	NM_025030		1:43047133
SRFBP1	153443	broad.mit.edu	37	5	121356395	121356396	+	Frame_Shift_Ins	INS	-	-	CTTTCTTCTGTGCTATCATCAAAATATTCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:121356395_121356396insCTTTCTTCTGTGCTATCATCAAAATATTCCT	ENST00000339397.4	+	6	1037_1038	c.965_966insCTTTCTTCTGTGCTATCATCAAAATATTCCT	c.(964-969)actcatfs	p.H323fs	SRFBP1_ENST00000504881.1_3'UTR	NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ACAGGTGAAACTCATGGGGATA	0.356																																						ENST00000339397.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(964-969)actcatfs		serum response factor binding protein 1																																				SO:0001589	frameshift_variant	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356395_121356396insCTTTCTTCTGTGCTATCATCAAAATATTCCT	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		Exception_encountered	5.37:g.121356395_121356396insCTTTCTTCTGTGCTATCATCAAAATATTCCT	ENSP00000341324:p.His323fs	False	False		Somatic	0				SRFBP1_ENST00000504881.1_3'UTR	p.H323fs	NM_152546.2	NP_689759.2	WXS	Illumina HiSeq	Phase_I	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	1037_1038	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	323						Frame_Shift_Ins	INS	ENST00000339397.4	37	c.965_966insCTTTCTTCTGTGCTATCATCAAAATATTCCT	CCDS43354.1																																																																																				0.356	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	0	NM_152546		5:121356395
NRG2	9542	broad.mit.edu	37	5	139267073	139267074	+	In_Frame_Ins	INS	-	-	ACTCCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:139267073_139267074insACTCCC	ENST00000361474.1	-	2	947_948	c.723_724insGGGAGT	c.(721-726)aagatg>aagGGGAGTatg	p.241_242KM>KGSM	NRG2_ENST00000545385.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000358522.3_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000394770.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000340391.3_In_Frame_Ins_p.38_39KM>KGSM|NRG2_ENST00000541337.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000289409.4_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000289422.7_In_Frame_Ins_p.241_242KM>KGSM	NM_004883.2	NP_004874.1	O14511	NRG2_HUMAN	neuregulin 2	241	Ig-like C2-type.				embryo development (GO:0009790)|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)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCTCTTCATCTTCTTCAACT	0.579																																						ENST00000361474.1		NA																	0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(721-726)aagatg>aagGGGAGTatg		neuregulin 2																																				SO:0001652	inframe_insertion	9542				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	g.chr5:139267073_139267074insACTCCC		CCDS4217.1, CCDS54910.1	5q23-q33	2013-01-11			ENSG00000158458	ENSG00000158458		"""Immunoglobulin superfamily / I-set domain containing"""	7998	protein-coding gene	gene with protein product	"""neural- and thymus-derived activator for ErbB kinases"", ""divergent of neuregulin-1"""	603818				9168114, 9168115	Standard	NM_004883		Approved	Don-1, NTAK, HRG2	uc003lev.2	O14511	OTTHUMG00000129241	ENST00000361474.1:c.723_724insGGGAGT	5.37:g.139267073_139267074insACTCCC	ENSP00000354910:p.Lys241_Met242insGlySer	False	False		Somatic	0				NRG2_ENST00000289409.4_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000541337.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000358522.3_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000394770.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000518130.1_5'UTR|NRG2_ENST00000545385.1_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000289422.7_In_Frame_Ins_p.241_242KM>KGSM|NRG2_ENST00000340391.3_In_Frame_Ins_p.38_39KM>KGSM	p.241_242KM>KGSM	NM_004883.2	NP_004874.1	WXS	Illumina HiSeq	Phase_I	O14511	NRG2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	947_948	-			241			Ig-like C2-type.			In_Frame_Ins	INS	ENST00000361474.1	37	c.723_724insGGGAGT	CCDS4217.1																																																																																				0.579	NRG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251340.1	0	NM_013982		5:139267073
PCDHA1	56147	broad.mit.edu	37	5	140167392	140167393	+	In_Frame_Ins	INS	-	-	CAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr5:140167392_140167393insCAC	ENST00000504120.2	+	1	1517_1518	c.1517_1518insCAC	c.(1516-1521)aactac>aaCACctac	p.506_507NY>NTY	PCDHA1_ENST00000378133.3_In_Frame_Ins_p.506_507NY>NTY|PCDHA1_ENST00000394633.3_In_Frame_Ins_p.506_507NY>NTY	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	506	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCTGTCGAACTACGTGTCAG	0.673																																						ENST00000504120.2		NA																	0				breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70						c.(1516-1521)aactac>aaCACctac																																						SO:0001652	inframe_insertion	0							g.chr5:140167392_140167393insCAC	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		Exception_encountered	5.37:g.140167392_140167393insCAC	ENSP00000420840:p.Asn506_Tyr507insThr	False	False		Somatic	0				PCDHA1_ENST00000378133.3_In_Frame_Ins_p.506_507NY>NTY|PCDHA1_ENST00000394633.3_In_Frame_Ins_p.506_507NY>NTY	p.506_507NY>NTY	NM_018900.2	NP_061723.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1517_1518	+			NA					O75288|Q9NRT7	In_Frame_Ins	INS	ENST00000504120.2	37	c.1517_1518insCAC	CCDS54913.1																																																																																				0.673	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	0	NM_018900		5:140167392
ERVFRD-1	405754	broad.mit.edu	37	6	11105171	11105172	+	Frame_Shift_Ins	INS	-	-	ATTACTTTTCCTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:11105171_11105172insATTACTTTTCCTC	ENST00000472091.1	-	2	747_748	c.372_373insGAGGAAAAGTAAT	c.(370-375)cctattfs	p.I125fs	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Frame_Shift_Ins_p.I125fs	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	125					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						ATAACACAAATAGGGGCTATTC	0.391																																						ENST00000472091.1		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						c.(370-375)cctattfs																																						SO:0001589	frameshift_variant	0					integral to membrane|plasma membrane|virion		g.chr6:11105171_11105172insATTACTTTTCCTC	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.372_373insGAGGAAAAGTAAT	6.37:g.11105171_11105172insATTACTTTTCCTC	ENSP00000420174:p.Ile125fs	True	False		Somatic	0				SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Frame_Shift_Ins_p.I125fs	p.I125fs	NM_207582.2	NP_997465.1	WXS	Illumina HiSeq	Phase_I	P60508	EFRD1_HUMAN			2	747_748	-			125						Frame_Shift_Ins	INS	ENST00000472091.1	37	c.372_373insGAGGAAAAGTAAT	CCDS4519.1																																																																																				0.391	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	0	NM_207582		6:11105171
SLC17A1	6568	broad.mit.edu	37	6	25826860	25826861	+	Splice_Site	INS	-	-	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:25826860_25826861insT	ENST00000244527.4	-	3	150_151	c.35_36insA	c.(34-36)gtt>gtAt	p.V12fs	SLC17A1_ENST00000468082.1_Splice_Site_p.V12fs|SLC17A1_ENST00000427328.1_Splice_Site_p.V12fs|SLC17A1_ENST00000476801.1_Splice_Site_p.V12fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	12					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGAAACCTGGAACTACAAAGTA	0.401																																						ENST00000244527.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(34-36)gtt>gtAt		solute carrier family 17 (organic anion transporter), member 1																																				SO:0001630	splice_region_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25826860_25826861insT		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.35-1->A	6.37:g.25826860_25826861insT		False	False		Somatic	0				SLC17A1_ENST00000476801.1_Splice_Site_p.V12fs|SLC17A1_ENST00000427328.1_Splice_Site_p.V12fs|SLC17A1_ENST00000468082.1_Splice_Site_p.V12fs	p.V12fs	NM_005074.3	NP_005065.2	WXS	Illumina HiSeq	Phase_I	Q14916	NPT1_HUMAN			3	150_151	-			12					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Splice_Site	INS	ENST00000244527.4	37	c.35_36insA	CCDS4565.1																																																																																				0.401	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2	0		Frame_Shift_Ins	6:25826860
HMGN4	10473	broad.mit.edu	37	6	26545481	26545482	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:26545481_26545482insTT	ENST00000377575.2	+	2	224_225	c.47_48insTT	c.(46-51)aaggtgfs	p.KV16fs		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	16						chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)			lung(2)|skin(1)	3						GATAAAGCAAAGGTGAAGGATG	0.525																																						ENST00000377575.2		NA																	0				lung(2)|skin(1)	3						c.(46-51)aaggtgfs		high mobility group nucleosomal binding domain 4																																				SO:0001589	frameshift_variant	10473					chromatin|nucleus	DNA binding	g.chr6:26545481_26545482insTT	U90549	CCDS4615.1	6p21.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000182952	ENSG00000182952		"""High-mobility group / Canonical"""	4989	protein-coding gene	gene with protein product			"""high-mobility group (nonhistone chromosomal) protein 17-like 3"""	HMG17L3		9149941, 11410162	Standard	NM_006353		Approved	NHC	uc003nig.3	O00479	OTTHUMG00000014458	Exception_encountered	6.37:g.26545481_26545482insTT	ENSP00000366798:p.Lys16fs	True	False		Somatic	0					p.KV16fs	NM_006353.2	NP_006344.1	WXS	Illumina HiSeq	Phase_I	O00479	HMGN4_HUMAN			2	224_225	+			16					B2R4I6|Q53XL9	Frame_Shift_Ins	INS	ENST00000377575.2	37	c.47_48insTT	CCDS4615.1																																																																																				0.525	HMGN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040123.2	0			6:26545481
HMGN4	10473	broad.mit.edu	37	6	26545482	26545483	+	Frame_Shift_Ins	INS	-	-	ACTATATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:26545482_26545483insACTATATT	ENST00000377575.2	+	2	225_226	c.48_49insACTATATT	c.(49-51)gtgfs	p.V17fs		NM_006353.2	NP_006344.1	O00479	HMGN4_HUMAN	high mobility group nucleosomal binding domain 4	17						chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V17L(1)		lung(2)|skin(1)	3						ATAAAGCAAAGGTGAAGGATGA	0.52																																						ENST00000377575.2		NA																	1	Substitution - Missense(1)	p.V17L(1)	skin(1)	lung(2)|skin(1)	3						c.(49-51)gtgfs		high mobility group nucleosomal binding domain 4																																				SO:0001589	frameshift_variant	10473					chromatin|nucleus	DNA binding	g.chr6:26545482_26545483insACTATATT	U90549	CCDS4615.1	6p21.3	2011-07-01	2002-07-25	2002-07-26	ENSG00000182952	ENSG00000182952		"""High-mobility group / Canonical"""	4989	protein-coding gene	gene with protein product			"""high-mobility group (nonhistone chromosomal) protein 17-like 3"""	HMG17L3		9149941, 11410162	Standard	NM_006353		Approved	NHC	uc003nig.3	O00479	OTTHUMG00000014458	Exception_encountered	6.37:g.26545482_26545483insACTATATT	ENSP00000366798:p.Val17fs	False	False		Somatic	0					p.V17fs	NM_006353.2	NP_006344.1	WXS	Illumina HiSeq	Phase_I	O00479	HMGN4_HUMAN			2	225_226	+			17					B2R4I6|Q53XL9	Frame_Shift_Ins	INS	ENST00000377575.2	37	c.48_49insACTATATT	CCDS4615.1																																																																																				0.520	HMGN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040123.2	0			6:26545482
ZNF165	7718	broad.mit.edu	37	6	28056518	28056519	+	In_Frame_Ins	INS	-	-	ATATTACCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28056518_28056519insATATTACCT	ENST00000377325.1	+	4	1284_1285	c.728_729insATATTACCT	c.(727-732)gagtct>gaATATTACCTgtct	p.243_244ES>EYYLS	ZSCAN12P1_ENST00000529104.1_RNA	NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	243					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAATCAGGGGAGTCTCAGAGAC	0.446																																						ENST00000377325.1		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(727-732)gagtct>gaATATTACCTgtct		zinc finger protein 165																																				SO:0001652	inframe_insertion	7718				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28056518_28056519insATATTACCT	U78722	CCDS4643.1	6p21	2013-01-09			ENSG00000197279	ENSG00000197279		"""-"", ""Zinc fingers, C2H2-type"""	12953	protein-coding gene	gene with protein product	"""cancer/testis antigen 53"""	600834				7490084	Standard	NM_003447		Approved	ZSCAN7, CT53	uc021yro.1	P49910	OTTHUMG00000014505	Exception_encountered	6.37:g.28056518_28056519insATATTACCT	ENSP00000366542:p.Glu243_Ser244insTyrTyrLeu	False	False		Somatic	0					p.243_244ES>EYYLS	NM_003447.3	NP_003438.1	WXS	Illumina HiSeq	Phase_I	P49910	ZN165_HUMAN			4	1284_1285	+			243						In_Frame_Ins	INS	ENST00000377325.1	37	c.728_729insATATTACCT	CCDS4643.1																																																																																				0.446	ZNF165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040173.1	0	NM_003447		6:28056518
PGBD1	84547	broad.mit.edu	37	6	28265720	28265721	+	Frame_Shift_Ins	INS	-	-	AAATCATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28265720_28265721insAAATCATA	ENST00000405948.2	+	6	1241_1242	c.821_822insAAATCATA	c.(820-825)acttctfs	p.S275fs	PGBD1_ENST00000259883.3_Frame_Shift_Ins_p.S275fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	275						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGCAAGAAACTTCTGAAGAAA	0.337																																						ENST00000405948.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(820-825)acttctfs		piggyBac transposable element derived 1																																				SO:0001589	frameshift_variant	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28265720_28265721insAAATCATA	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	Exception_encountered	6.37:g.28265720_28265721insAAATCATA	ENSP00000385213:p.Ser275fs	False	False		Somatic	0				PGBD1_ENST00000259883.3_Frame_Shift_Ins_p.S275fs	p.S275fs	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina HiSeq	Phase_I	Q96JS3	PGBD1_HUMAN			6	1241_1242	+			275					Q53F43|Q6NTF5|Q8WWS4	Frame_Shift_Ins	INS	ENST00000405948.2	37	c.821_822insAAATCATA	CCDS4648.1																																																																																				0.337	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	0			6:28265720
ZKSCAN3	80317	broad.mit.edu	37	6	28333528	28333529	+	Frame_Shift_Ins	INS	-	-	CTTCTGC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:28333528_28333529insCTTCTGC	ENST00000377255.3	+	7	1380_1381	c.1083_1084insCTTCTGC	c.(1084-1086)agafs	p.R362fs	ZKSCAN3_ENST00000341464.5_Frame_Shift_Ins_p.R214fs|ZKSCAN3_ENST00000252211.2_Frame_Shift_Ins_p.R362fs	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	362					autophagy (GO:0006914)|lysosome organization (GO:0007040)|negative regulation of autophagy (GO:0010507)|negative regulation of cellular senescence (GO:2000773)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						TCATTCATCAGAGAGTCCACAC	0.49																																						ENST00000377255.3		NA																	0				kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						c.(1084-1086)agafs		zinc finger with KRAB and SCAN domains 3																																				SO:0001589	frameshift_variant	80317				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28333528_28333529insCTTCTGC	U71601	CCDS4650.1, CCDS56408.1	6p22.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000189298		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13853	protein-coding gene	gene with protein product		612791	"""zinc finger protein 306"", ""zinc finger protein 309"""	ZNF306, ZNF309		10520746, 22531714	Standard	NM_024493		Approved	Zfp47, ZF47, ZSCAN35	uc003nle.4	Q9BRR0	OTTHUMG00000014521	Exception_encountered	6.37:g.28333528_28333529insCTTCTGC	ENSP00000366465:p.Arg362fs	True	False		Somatic	0				ZKSCAN3_ENST00000252211.2_Frame_Shift_Ins_p.R362fs|ZKSCAN3_ENST00000341464.5_Frame_Shift_Ins_p.R214fs	p.R362fs	NM_001242894.1	NP_001229823.1	WXS	Illumina HiSeq	Phase_I	Q9BRR0	ZKSC3_HUMAN			7	1380_1381	+			362					B2R8W2|B3KVC0|H7BXX1|Q5VXH3|Q92972|Q9H4T3	Frame_Shift_Ins	INS	ENST00000377255.3	37	c.1083_1084insCTTCTGC	CCDS4650.1																																																																																				0.490	ZKSCAN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040189.3	0	NM_024493		6:28333528
MDC1	9656	broad.mit.edu	37	6	30673587	30673588	+	In_Frame_Ins	INS	-	-	TTACTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:30673587_30673588insTTACTA	ENST00000376406.3	-	10	4019_4020	c.3372_3373insTAGTAA	c.(3370-3375)gcccct>gccTAGTAAcct	p.1124_1125AP>A**P	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_In_Frame_Ins_p.860_861AP>A**P	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1124	Pro-rich.			Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						TGGGGCTCAGGGGCAGCAGAGG	0.574								Other conserved DNA damage response genes																														ENST00000376406.3		NA																	0				breast(2)|kidney(1)|ovary(1)	4						c.(3370-3375)gcccct>gccTAGTAAcct	Other conserved DNA damage response genes	mediator of DNA-damage checkpoint 1																																				SO:0001652	inframe_insertion	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30673587_30673588insTTACTA	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.3372_3373insTAGTAA	6.37:g.30673587_30673588insTTACTA	ENSP00000365588:p.Ala1124_Pro1125ins**	True	False		Somatic	0				MDC1_ENST00000376405.2_In_Frame_Ins_p.860_861AP>A**P|MDC1-AS1_ENST00000442150.1_RNA	p.1124_1125AP>A**P	NM_014641.2	NP_055456.2	WXS	Illumina HiSeq	Phase_I	Q14676	MDC1_HUMAN			10	4019_4020	-			1124	Missing (in Ref. 2; CAH18685).		Pro-rich.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	In_Frame_Ins	INS	ENST00000376406.3	37	c.3372_3373insTAGTAA	CCDS34384.1																																																																																				0.574	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	0	NM_014641		6:30673587
LSM2	57819	broad.mit.edu	37	6	31765634	31765635	+	Frame_Shift_Ins	INS	-	-	AATACTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:31765634_31765635insAATACTT	ENST00000375661.5	-	5	413_414	c.187_188insAAGTATT	c.(187-189)cggfs	p.R63fs	VARS_ENST00000375663.3_5'Flank|LSM2_ENST00000491421.1_5'UTR|VARS_ENST00000444930.2_5'Flank	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	63					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|U6 snRNA binding (GO:0017070)			large_intestine(1)|lung(1)	2						CACTGAGCCCCGAATGAAGCAG	0.505																																						ENST00000375661.5		NA																	0				large_intestine(1)|lung(1)	2						c.(187-189)cggfs		LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)																																				SO:0001589	frameshift_variant	57819				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding	g.chr6:31765634_31765635insAATACTT	AF182288	CCDS4722.1	6p21.3	2010-02-17	2003-02-17	2003-02-21	ENSG00000204392	ENSG00000204392			13940	protein-coding gene	gene with protein product		607282	"""chromosome 6 open reading frame 28"""	C6orf28		10523320, 8428774	Standard	NM_021177		Approved	G7b, YBL026W	uc003nxg.3	Q9Y333	OTTHUMG00000031121	ENST00000375661.5:c.187_188insAAGTATT	6.37:g.31765634_31765635insAATACTT	ENSP00000364813:p.Arg63fs	True	False		Somatic	0				LSM2_ENST00000491421.1_5'UTR	p.R63fs	NM_021177.4	NP_067000.1	WXS	Illumina HiSeq	Phase_I	Q9Y333	LSM2_HUMAN			5	413_414	-			63					Q6FGG1	Frame_Shift_Ins	INS	ENST00000375661.5	37	c.187_188insAAGTATT	CCDS4722.1																																																																																				0.505	LSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076205.2	0	NM_021177		6:31765634
RING1	6015	broad.mit.edu	37	6	33179685	33179686	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	GT	GT	-	-	GT	GT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:33179685_33179686delGT	ENST00000374656.4	+	6	1233_1234	c.1025_1026delGT	c.(1024-1026)ggtfs	p.G342fs	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	342	Gly-rich.|Necessary for interaction with CBX2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GCCGGAGGAGGTGACGGTCCTG	0.668																																						ENST00000374656.4		NA																	0				endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						c.(1024-1026)ggtfs		ring finger protein 1																																				SO:0001589	frameshift_variant	6015				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding	g.chr6:33179685_33179686delGT		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278	ENST00000374656.4:c.1025_1026delGT	6.37:g.33179685_33179686delGT	ENSP00000363787:p.Gly342fs	False	False		Somatic	1				RING1_ENST00000478431.1_3'UTR	p.G342fs	NM_002931.3	NP_002922.2	WXS	Illumina HiSeq	Phase_I	Q06587	RING1_HUMAN			6	1233_1234	+			342			Gly-rich.|Necessary for interaction with CBX2 (By similarity).		A8JZZ0|Q5JP96|Q5SQW2|Q86V19	Frame_Shift_Del	DEL	ENST00000374656.4	37	c.1025_1026delGT	CCDS34424.1																																																																																				0.668	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2	0			6:33179685
CUTA	51596	broad.mit.edu	37	6	33384521	33384522	+	Frame_Shift_Ins	INS	-	-	ATTTG	rs200427336		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:33384521_33384522insATTTG	ENST00000488034.1	-	6	566_567	c.445_446insCAAAT	c.(445-447)attfs	p.I149fs	CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000374500.5_Frame_Shift_Ins_p.I168fs|CUTA_ENST00000440279.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-132fs|CUTA_ENST00000492510.1_5'Flank	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	149					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						AGGCAATGCAATTACCTCGGCC	0.52																																						ENST00000374500.5		NA																SLC22A1/CUTA(2)	0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(502-504)attfs		cutA divalent cation tolerance homolog (E. coli)																																				SO:0001589	frameshift_variant	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33384521_33384522insATTTG	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.445_446insCAAAT	6.37:g.33384521_33384522insATTTG	ENSP00000417544:p.Ile149fs	True	False		Somatic	0				CUTA_ENST00000440279.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.I126fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-132fs|CUTA_ENST00000488034.1_Frame_Shift_Ins_p.I149fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.I126fs	p.I168fs	NM_001014433.2	NP_001014433.1	WXS	Illumina HiSeq	Phase_I	O60888	CUTA_HUMAN			6	633_634	-			149					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Frame_Shift_Ins	INS	ENST00000488034.1	37	c.502_503insCAAAT	CCDS34433.1																																																																																				0.520	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	0	NM_015921		6:33384521
CUL9	23113	broad.mit.edu	37	6	43153325	43153326	+	Frame_Shift_Ins	INS	-	-	AGATTCTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:43153325_43153326insAGATTCTA	ENST00000252050.4	+	3	811_812	c.727_728insAGATTCTA	c.(727-729)tttfs	p.F243fs	CUL9_ENST00000372647.2_Frame_Shift_Ins_p.F243fs|CUL9_ENST00000354495.3_Frame_Shift_Ins_p.F243fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	243					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGCATGGCCTTTGAGGGCATT	0.475																																						ENST00000372647.2		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(727-729)tttfs		cullin 9																																				SO:0001589	frameshift_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43153325_43153326insAGATTCTA	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	Exception_encountered	6.37:g.43153325_43153326insAGATTCTA	ENSP00000252050:p.Phe243fs	True	False		Somatic	0				CUL9_ENST00000354495.3_Frame_Shift_Ins_p.F243fs|CUL9_ENST00000252050.4_Frame_Shift_Ins_p.F243fs	p.F243fs			WXS	Illumina HiSeq	Phase_I	Q8IWT3	CUL9_HUMAN			3	801_802	+			243					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Ins	INS	ENST00000252050.4	37	c.727_728insAGATTCTA	CCDS4890.1																																																																																				0.475	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	0	NM_015089		6:43153325
CDC5L	988	broad.mit.edu	37	6	44371659	44371660	+	Frame_Shift_Ins	INS	-	-	TCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:44371659_44371660insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	ENST00000371477.3	+	6	952_953	c.653_654insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	c.(652-657)aaaaagfs	p.K218fs		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	218	Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCATTTGAAAAAAAGCCTGCCC	0.391																																						ENST00000371477.3		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29						c.(652-657)aaaaagfs		cell division cycle 5-like																																				SO:0001589	frameshift_variant	988				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding	g.chr6:44371659_44371660insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	Exception_encountered	6.37:g.44371659_44371660insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	ENSP00000360532:p.Lys218fs	True	False		Somatic	0					p.K218fs	NM_001253.3	NP_001244.1	WXS	Illumina HiSeq	Phase_I	Q99459	CDC5L_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		6	952_953	+	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		218					Q76N46|Q99974	Frame_Shift_Ins	INS	ENST00000371477.3	37	c.653_654insTCATATGCCATGTGACAGGGATAAATTATCCCATACAGTT	CCDS4912.1																																																																																				0.391	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1	0			6:44371659
MYO6	4646	broad.mit.edu	37	6	76527372	76527373	+	In_Frame_Ins	INS	-	-	TTTTGAAATATATATAAAACAAAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:76527372_76527373insTTTTGAAATATATATAAAACAAAT	ENST00000369977.3	+	2	247_248	c.108_109insTTTTGAAATATATATAAAACAAAT	c.(109-111)aaa>TTTTGAAATATATATAAAACAAATaaa	p.36_37insF*NIYKTN	MYO6_ENST00000369985.4_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369975.1_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369981.3_In_Frame_Ins_p.36_37insF*NIYKTN	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	36					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCTTGAATCAGAAAGGCAAGGT	0.406																																						ENST00000369985.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(109-111)aaa>TTTTGAAATATATATAAAACAAATaaa		myosin VI																																				SO:0001652	inframe_insertion	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76527372_76527373insTTTTGAAATATATATAAAACAAAT	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	Exception_encountered	6.37:g.76527372_76527373insTTTTGAAATATATATAAAACAAAT	ENSP00000358994:p.Gln36_Lys37insPhe*AsnIleTyrLysThrAsn	True	False		Somatic	0				MYO6_ENST00000369977.3_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369975.1_In_Frame_Ins_p.36_37insF*NIYKTN|MYO6_ENST00000369981.3_In_Frame_Ins_p.36_37insF*NIYKTN	p.36_37insF*NIYKTN			WXS	Illumina HiSeq	Phase_I	Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	2	370_371	+		all_hematologic(105;0.189)	36			Myosin head-like.		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	In_Frame_Ins	INS	ENST00000369977.3	37	c.108_109insTTTTGAAATATATATAAAACAAAT	CCDS34487.1																																																																																				0.406	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	0	NM_004999		6:76527372
DIO1	1733	broad.mit.edu	37	1	54370453	54370454	+	Frame_Shift_Ins	INS	-	-	ACAAGCAC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:54370453_54370454insACAAGCAC	ENST00000361921.3	+	2	476_477	c.452_453insACAAGCAC	c.(451-456)gtcattfs	p.I152fs	DIO1_ENST00000524406.1_Frame_Shift_Ins_p.I23fs|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.I152fs|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.I88fs|DIO1_ENST00000534069.1_3'UTR	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	152					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						GATTTTCTTGTCATTTACATTG	0.411																																						ENST00000361921.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						c.(451-456)gtcattfs		deiodinase, iodothyronine, type I																																				SO:0001589	frameshift_variant	1733				hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity	g.chr1:54370453_54370454insACAAGCAC		CCDS30722.1, CCDS41339.1, CCDS41340.1, CCDS53320.1	1p33-p32	2012-03-01			ENSG00000211452	ENSG00000211452	1.97.1.10		2883	protein-coding gene	gene with protein product		147892		TXDI1		8964838	Standard	NM_000792		Approved		uc001cwb.3	P49895	OTTHUMG00000008435	Exception_encountered	1.37:g.54370453_54370454insACAAGCAC	ENSP00000354643:p.Ile152fs	False	False		Somatic	0				DIO1_ENST00000524406.1_Frame_Shift_Ins_p.I23fs|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Frame_Shift_Ins_p.I152fs|DIO1_ENST00000532493.1_Intron|DIO1_ENST00000525202.1_Frame_Shift_Ins_p.I88fs	p.I152fs	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	WXS	Illumina HiSeq	Phase_I	P49895	IOD1_HUMAN			2	476_477	+			152					Q1RN02|Q3KNP8|Q6Q4C1|Q6Q4C2|Q6Q4C3|Q6Q4C4|Q6Q4C5|Q6Q4C6|Q6Q4C7|Q6Q4C9|Q8WWC6	Frame_Shift_Ins	INS	ENST00000361921.3	37	c.452_453insACAAGCAC	CCDS41339.1																																																																																				0.411	DIO1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000023247.3	0			1:54370453
OMA1	115209	broad.mit.edu	37	1	58999992	58999993	+	In_Frame_Ins	INS	-	-	TTATTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:58999992_58999993insTTATTG	ENST00000371226.3	-	4	853_854	c.740_741insCAATAA	c.(739-741)gaa>gaCAATAAa	p.247_247E>DNK	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_In_Frame_Ins_p.247_247E>DNK	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CATTTTTAAATTCTTCCATCCA	0.327																																						ENST00000371226.3		NA																	0				NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(739-741)gaa>gaCAATAAa		OMA1 zinc metallopeptidase																																				SO:0001652	inframe_insertion	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58999992_58999993insTTATTG	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.740_741insCAATAA	1.37:g.58999992_58999993insTTATTG	ENSP00000360270:p.Glu247delinsAspAsnLys	False	False		Somatic	0				DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_In_Frame_Ins_p.247_247E>DNK	p.247_247E>DNK	NM_145243.3	NP_660286.1	WXS	Illumina HiSeq	Phase_I	Q96E52	OMA1_HUMAN			4	853_854	-	all_cancers(7;6.54e-05)		247					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	In_Frame_Ins	INS	ENST00000371226.3	37	c.740_741insCAATAA	CCDS608.1																																																																																				0.327	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	0	NM_145243		1:58999992
OMA1	115209	broad.mit.edu	37	1	58999994	58999995	+	Frame_Shift_Ins	INS	-	-	CTTATTTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:58999994_58999995insCTTATTTT	ENST00000371226.3	-	4	851_852	c.738_739insAAAATAAG	c.(736-741)gaagaafs	p.E247fs	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Frame_Shift_Ins_p.E247fs	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	247					cristae formation (GO:0042407)|diet induced thermogenesis (GO:0002024)|energy homeostasis (GO:0097009)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|mitochondrial protein processing (GO:0034982)|negative regulation of mitochondrial fusion (GO:0010637)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.E247*(1)		NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTTTTAAATTCTTCCATCCACT	0.322																																						ENST00000371226.3		NA																	1	Substitution - Nonsense(1)	p.E247*(1)	large_intestine(1)	NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18						c.(736-741)gaagaafs		OMA1 zinc metallopeptidase																																				SO:0001589	frameshift_variant	115209				proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity	g.chr1:58999994_58999995insCTTATTTT	AK091101	CCDS608.1	1p32.2-p32.1	2013-05-03	2013-05-03		ENSG00000162600	ENSG00000162600			29661	protein-coding gene	gene with protein product	"""overlapping activity with M-AAA protease"", ""zinc metallopeptidase OMA1"""		"""OMA1 zinc metallopeptidase homolog (S. cerevisiae)"""			12477932	Standard	NM_145243		Approved	MPRP-1, YKR087C, ZMPOMA1, FLJ33782	uc001cyy.3	Q96E52	OTTHUMG00000010068	ENST00000371226.3:c.738_739insAAAATAAG	1.37:g.58999994_58999995insCTTATTTT	ENSP00000360270:p.Glu247fs	True	False		Somatic	0				DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Frame_Shift_Ins_p.E247fs	p.E247fs	NM_145243.3	NP_660286.1	WXS	Illumina HiSeq	Phase_I	Q96E52	OMA1_HUMAN			4	851_852	-	all_cancers(7;6.54e-05)		247					D3DQ54|Q5T3G6|Q5T3G7|Q5T3G8|Q5T3G9|Q5T3H0|Q8NBB3	Frame_Shift_Ins	INS	ENST00000371226.3	37	c.738_739insAAAATAAG	CCDS608.1																																																																																				0.322	OMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027819.1	0	NM_145243		1:58999994
RPS12	6206	broad.mit.edu	37	6	133136193	133136194	+	In_Frame_Ins	INS	-	-	TCA	rs566162912	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:133136193_133136194insTCA	ENST00000230050.3	+	3	307_308	c.97_98insTCA	c.(97-99)cgt>cTCAgt	p.33_33R>LS	SNORD100_ENST00000408573.1_RNA|SNORA33_ENST00000363664.1_RNA|SNORD101_ENST00000384027.1_RNA	NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	33					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)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		TGGCCTAGCACGTGGAATTCGC	0.485																																						ENST00000230050.3		NA																	0				endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18						c.(97-99)cgt>cTCAgt		ribosomal protein S12																																				SO:0001652	inframe_insertion	6206				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome	g.chr6:133136193_133136194insTCA	X53505	CCDS5164.1	6q23	2011-04-05			ENSG00000112306	ENSG00000112306		"""S ribosomal proteins"""	10385	protein-coding gene	gene with protein product		603660				1861993, 9582194	Standard	NM_001016		Approved	S12	uc003qdx.3	P25398	OTTHUMG00000015593	Exception_encountered	6.37:g.133136193_133136194insTCA	ENSP00000230050:p.Arg33delinsLeuSer	False	False		Somatic	0					p.33_33R>LS	NM_001016.3	NP_001007.2	WXS	Illumina HiSeq	Phase_I	P25398	RS12_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)	3	307_308	+	Breast(56;0.214)		33					Q76M58	In_Frame_Ins	INS	ENST00000230050.3	37	c.97_98insTCA	CCDS5164.1																																																																																				0.485	RPS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042270.2	0	NM_001016		6:133136193
HIVEP2	3097	broad.mit.edu	37	6	143081315	143081316	+	Frame_Shift_Ins	INS	-	-	AAAGAGATGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:143081315_143081316insAAAGAGATGT	ENST00000367604.1	-	8	6748_6749	c.6109_6110insACATCTCTTT	c.(6109-6111)aggfs	p.R2037fs	HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.R2037fs|HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.R2037fs			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TGAGAAGTCCCTGGGAGAGGAG	0.47																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	ENST00000367604.1		NA																	0				NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100						c.(6109-6111)aggfs		human immunodeficiency virus type I enhancer binding protein 2																																				SO:0001589	frameshift_variant	3097				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:143081315_143081316insAAAGAGATGT	M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6109_6110insACATCTCTTT	6.37:g.143081315_143081316insAAAGAGATGT	ENSP00000356576:p.Arg2037fs	True	False		Somatic	0				HIVEP2_ENST00000367603.2_Frame_Shift_Ins_p.R2037fs|HIVEP2_ENST00000012134.2_Frame_Shift_Ins_p.R2037fs	p.R2037fs			WXS	Illumina HiSeq	Phase_I	P31629	ZEP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)	8	6748_6749	-			2037					Q02646|Q5THT5|Q9NS05	Frame_Shift_Ins	INS	ENST00000367604.1	37	c.6109_6110insACATCTCTTT	CCDS43510.1																																																																																				0.470	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042495.1	0			6:143081315
RMND1	55005	broad.mit.edu	37	6	151766776	151766777	+	Frame_Shift_Ins	INS	-	-	GGGTTCTAAATGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr6:151766776_151766777insGGGTTCTAAATGG	ENST00000367303.4	-	2	292_293	c.170_171insCCATTTAGAACCC	c.(169-171)aaafs	p.K57fs	RMND1_ENST00000491268.1_5'UTR|RMND1_ENST00000336451.3_5'Flank	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	57					translation (GO:0006412)	mitochondrion (GO:0005739)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CACTAGCTGTTTTATCAGGAAG	0.386																																						ENST00000367303.4		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(169-171)aaafs		required for meiotic nuclear division 1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	55005							g.chr6:151766776_151766777insGGGTTCTAAATGG	AK000634	CCDS5232.1, CCDS75539.1	6q25.1	2008-02-05	2006-11-24	2006-11-24	ENSG00000155906	ENSG00000155906			21176	protein-coding gene	gene with protein product		614917	"""chromosome 6 open reading frame 96"""	C6orf96			Standard	NM_001271937		Approved	bA351K16.3, FLJ20627, RMD1	uc003qoi.3	Q9NWS8	OTTHUMG00000015837	ENST00000367303.4:c.170_171insCCATTTAGAACCC	6.37:g.151766776_151766777insGGGTTCTAAATGG	ENSP00000356272:p.Lys57fs	True	False		Somatic	0				RMND1_ENST00000491268.1_5'UTR	p.K57fs	NM_017909.2	NP_060379.2	WXS	Illumina HiSeq	Phase_I	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	2	292_293	-		Ovarian(120;0.125)	57					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Frame_Shift_Ins	INS	ENST00000367303.4	37	c.170_171insCCATTTAGAACCC	CCDS5232.1																																																																																				0.386	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	0	NM_017909		6:151766776
KIAA1324L	222223	broad.mit.edu	37	7	86556230	86556231	+	Frame_Shift_Ins	INS	-	-	CCTCCTGGAACATTTTCAGATGGAACCAAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:86556230_86556231insCCTCCTGGAACATTTTCAGATGGAACCAAAG	ENST00000450689.2	-	9	1276_1277	c.1091_1092insCTTTGGTTCCATCTGAAAATGTTCCAGGAGG	c.(1090-1092)acafs	p.-364fs	KIAA1324L_ENST00000297222.6_Frame_Shift_Ins_p.-124fs|KIAA1324L_ENST00000416314.1_Frame_Shift_Ins_p.-197fs|KIAA1324L_ENST00000444627.1_Frame_Shift_Ins_p.-364fs	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like							integral component of membrane (GO:0016021)		p.T124T(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					ACATTATCTGTGTCTACaaaaa	0.376																																						ENST00000416314.1		NA																	1	Substitution - coding silent(1)	p.T124T(1)	ovary(1)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						c.(589-591)acafs		KIAA1324-like																																				SO:0001589	frameshift_variant	222223					integral to membrane		g.chr7:86556230_86556231insCCTCCTGGAACATTTTCAGATGGAACCAAAG	AK055902	CCDS34677.1, CCDS47632.1, CCDS34677.2	7q21.12	2008-09-18			ENSG00000164659	ENSG00000164659			21945	protein-coding gene	gene with protein product	"""EIG121-like"""	614048					Standard	NM_001142749		Approved	FLJ31340, EIG121L	uc011kha.2	A8MWY0	OTTHUMG00000153995	ENST00000450689.2:c.1091_1092insCTTTGGTTCCATCTGAAAATGTTCCAGGAGG	7.37:g.86556230_86556231insCCTCCTGGAACATTTTCAGATGGAACCAAAG	ENSP00000413445:p.Thr364fs	False	False		Somatic	0				KIAA1324L_ENST00000297222.6_Frame_Shift_Ins_p.-124fs|KIAA1324L_ENST00000450689.2_Frame_Shift_Ins_p.-364fs|KIAA1324L_ENST00000444627.1_Frame_Shift_Ins_p.-364fs	p.-197fs	NM_152748.3	NP_689961.3	WXS	Illumina HiSeq	Phase_I	A8MWY0	K132L_HUMAN			8	785_786	-	Esophageal squamous(14;0.0058)		NA					A4D1C9|B4DJV3|Q17RI6|Q96DP2	Frame_Shift_Ins	INS	ENST00000450689.2	37	c.590_591insCTTTGGTTCCATCTGAAAATGTTCCAGGAGG	CCDS47632.1																																																																																				0.376	KIAA1324L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333372.3	0	NM_152748		7:86556230
RUNDC3B	154661	broad.mit.edu	37	7	87436829	87436830	+	In_Frame_Ins	INS	-	-	CAGAGGAACCTAATGGTATCAATT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:87436829_87436830insCAGAGGAACCTAATGGTATCAATT	ENST00000338056.3	+	10	1560_1561	c.1149_1150insCAGAGGAACCTAATGGTATCAATT	c.(1150-1152)tat>CAGAGGAACCTAATGGTATCAATTtat	p.383_384insQRNLMVSI	RUNDC3B_ENST00000394654.3_In_Frame_Ins_p.366_367insQRNLMVSI|RUNDC3B_ENST00000493037.1_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	383										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATAAACAGTGGTATGAGTAAGT	0.381																																						ENST00000338056.3		NA																	0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(1150-1152)tat>CAGAGGAACCTAATGGTATCAATTtat		RUN domain containing 3B																																				SO:0001652	inframe_insertion	154661							g.chr7:87436829_87436830insCAGAGGAACCTAATGGTATCAATT		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	Exception_encountered	7.37:g.87436829_87436830insCAGAGGAACCTAATGGTATCAATT	ENSP00000337732:p.Trp383_Tyr384insGlnArgAsnLeuMetValSerIle	False	False		Somatic	0				RUNDC3B_ENST00000394654.3_In_Frame_Ins_p.366_367insQRNLMVSI|RUNDC3B_ENST00000493037.1_Intron	p.383_384insQRNLMVSI	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	WXS	Illumina HiSeq	Phase_I	Q96NL0	RUN3B_HUMAN			10	1560_1561	+	Esophageal squamous(14;0.00164)		383					B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	In_Frame_Ins	INS	ENST00000338056.3	37	c.1149_1150insCAGAGGAACCTAATGGTATCAATT	CCDS5609.1																																																																																				0.381	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	0	NM_138290		7:87436829
CFAP69	79846	broad.mit.edu	37	7	89912365	89912366	+	In_Frame_Ins	INS	-	-	ATATCA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:89912365_89912366insATATCA	ENST00000389297.4	+	13	1783_1784	c.1532_1533insATATCA	c.(1531-1536)atgata>atATATCAgata	p.511_511M>IYQ	C7orf63_ENST00000316089.8_In_Frame_Ins_p.511_511M>IYQ|C7orf63_ENST00000497910.1_In_Frame_Ins_p.493_493M>IYQ	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		511										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATTCAGCAAATGATAGGTAAAA	0.332																																						ENST00000389297.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						c.(1531-1536)atgata>atATATCAgata		chromosome 7 open reading frame 63																																				SO:0001652	inframe_insertion	79846						binding	g.chr7:89912365_89912366insATATCA																												Exception_encountered	7.37:g.89912365_89912366insATATCA	ENSP00000373948:p.Met511delinsIleTyrGln	False	False		Somatic	0				C7orf63_ENST00000316089.8_In_Frame_Ins_p.511_511M>IYQ|C7orf63_ENST00000497910.1_In_Frame_Ins_p.493_493M>IYQ	p.511_511M>IYQ	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	WXS	Illumina HiSeq	Phase_I	A5D8W1	CG063_HUMAN			13	1783_1784	+			511					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	In_Frame_Ins	INS	ENST00000389297.4	37	c.1532_1533insATATCA	CCDS43613.2																																																																																				0.332	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4	0			7:89912365
YWHAG	7532	broad.mit.edu	37	7	75959197	75959198	+	Frame_Shift_Ins	INS	-	-	TACAAGG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:75959197_75959198insTACAAGG	ENST00000307630.3	-	2	662_663	c.440_441insCCTTGTA	c.(439-441)gtgfs	p.V147fs		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma	147					apoptotic process (GO:0006915)|cellular response to insulin stimulus (GO:0032869)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of neuron differentiation (GO:0045664)|regulation of signal transduction (GO:0009966)|regulation of synaptic plasticity (GO:0048167)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)	insulin-like growth factor receptor binding (GO:0005159)|poly(A) RNA binding (GO:0044822)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CGGAGGACTCCACCACCGTCGC	0.574																																						ENST00000307630.3		NA																	0				endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						c.(439-441)gtgfs		tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide																																				SO:0001589	frameshift_variant	7532				G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	g.chr7:75959197_75959198insTACAAGG	AF142498	CCDS5584.1	7q11.23	2014-06-13	2013-12-03		ENSG00000170027	ENSG00000170027			12852	protein-coding gene	gene with protein product	"""14-3-3 gamma"", ""protein phosphatase 1, regulatory subunit 170"""	605356	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide"""			10486217, 10433554	Standard	NM_012479		Approved	PPP1R170	uc011kgj.1	P61981	OTTHUMG00000022862	ENST00000307630.3:c.440_441insCCTTGTA	7.37:g.75959197_75959198insTACAAGG	ENSP00000306330:p.Val147fs	False	False		Somatic	0					p.V147fs	NM_012479.3	NP_036611.2	WXS	Illumina HiSeq	Phase_I	P61981	1433G_HUMAN			2	662_663	-			147					O70457|P35214|Q6FH52|Q9UDP2|Q9UN99	Frame_Shift_Ins	INS	ENST00000307630.3	37	c.440_441insCCTTGTA	CCDS5584.1																																																																																				0.574	YWHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253002.1	0	NM_012479		7:75959197
RAVER2	55225	broad.mit.edu	37	1	65243760	65243761	+	Frame_Shift_Ins	INS	-	-	TCCATAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:65243760_65243761insTCCATAG	ENST00000294428.3	+	3	849_850	c.771_772insTCCATAG	c.(772-774)cctfs	p.P258fs	RAVER2_ENST00000430964.2_5'UTR|RAVER2_ENST00000371072.4_Frame_Shift_Ins_p.P258fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	258	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GTGTCCATAAACCTGTGTTTTG	0.322																																						ENST00000371072.4		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						c.(772-774)cctfs		ribonucleoprotein, PTB-binding 2																																				SO:0001589	frameshift_variant	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65243760_65243761insTCCATAG	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	Exception_encountered	1.37:g.65243760_65243761insTCCATAG	ENSP00000294428:p.Pro258fs	True	False		Somatic	0				RAVER2_ENST00000430964.2_5'UTR|RAVER2_ENST00000294428.3_Frame_Shift_Ins_p.P258fs	p.P258fs	NM_018211.3	NP_060681.2	WXS	Illumina HiSeq	Phase_I	Q9HCJ3	RAVR2_HUMAN			3	849_850	+			258			RRM 3.		Q6P141|Q9NPV7	Frame_Shift_Ins	INS	ENST00000294428.3	37	c.771_772insTCCATAG																																																																																					0.322	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_018211		1:65243760
SLC44A5	204962	broad.mit.edu	37	1	75684247	75684248	+	In_Frame_Ins	INS	-	-	TCAAGTGGC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:75684247_75684248insTCAAGTGGC	ENST00000370855.5	-	17	1569_1570	c.1456_1457insGCCACTTGA	c.(1456-1458)tat>tGCCACTTGAat	p.486_486Y>CHLN	SLC44A5_ENST00000535611.1_In_Frame_Ins_p.356_356Y>CHLN|SLC44A5_ENST00000370859.3_In_Frame_Ins_p.486_486Y>CHLN	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	486					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGCCCAGTAATAAGTAGCGAAT	0.431																																						ENST00000370855.5		NA																	0				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1456-1458)tat>tGCCACTTGAat		solute carrier family 44, member 5																																				SO:0001652	inframe_insertion	204962					integral to membrane|plasma membrane	choline transmembrane transporter activity	g.chr1:75684247_75684248insTCAAGTGGC	BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.1456_1457insGCCACTTGA	1.37:g.75684247_75684248insTCAAGTGGC	ENSP00000359892:p.Tyr486delinsCysHisLeuAsn	False	False		Somatic	0				SLC44A5_ENST00000535611.1_In_Frame_Ins_p.356_356Y>CHLN|SLC44A5_ENST00000370859.3_In_Frame_Ins_p.486_486Y>CHLN	p.486_486Y>CHLN	NM_152697.4	NP_689910.2	WXS	Illumina HiSeq	Phase_I	Q8NCS7	CTL5_HUMAN			17	1569_1570	-			486					B5MCU3|Q4G0K0|Q8NA44|Q8NB86	In_Frame_Ins	INS	ENST00000370855.5	37	c.1456_1457insGCCACTTGA	CCDS667.1																																																																																				0.431	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026921.1	0	NM_152697		1:75684247
WEE2	494551	broad.mit.edu	37	7	141408664	141408665	+	In_Frame_Ins	INS	-	-	AGAAAATAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:141408664_141408665insAGAAAATAA	ENST00000397541.2	+	1	512_513	c.106_107insAGAAAATAA	c.(106-108)gct>gAGAAAATAAct	p.36_36A>EKIT	WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000495800.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	36					female meiotic division (GO:0007143)|female pronucleus assembly (GO:0035038)|mitotic nuclear division (GO:0007067)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of oocyte maturation (GO:1900194)|regulation of meiosis I (GO:0060631)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					AAGCAGGGAGGCTTCGAGCCAA	0.465																																						ENST00000397541.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						c.(106-108)gct>gAGAAAATAAct		WEE1 homolog 2 (S. pombe)																																				SO:0001652	inframe_insertion	494551				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	g.chr7:141408664_141408665insAGAAAATAA	AK131218	CCDS43660.1	7q32	2008-07-02			ENSG00000214102	ENSG00000214102			19684	protein-coding gene	gene with protein product		614084					Standard	NM_001105558		Approved	FLJ16107	uc003vwn.2	P0C1S8	OTTHUMG00000157536	Exception_encountered	7.37:g.141408664_141408665insAGAAAATAA	ENSP00000380675:p.Ala36delinsGluLysIleThr	False	False		Somatic	0				WEE2-AS1_ENST00000488785.1_RNA	p.36_36A>EKIT	NM_001105558.1	NP_001099028.1	WXS	Illumina HiSeq	Phase_I	P0C1S8	WEE2_HUMAN			1	512_513	+	Melanoma(164;0.0171)		36						In_Frame_Ins	INS	ENST00000397541.2	37	c.106_107insAGAAAATAA	CCDS43660.1																																																																																				0.465	WEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349091.1	0	NM_001105558		7:141408664
CTSB	1508	broad.mit.edu	37	8	11705590	11705591	+	Frame_Shift_Ins	INS	-	-	A	rs374459060		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:11705590_11705591insA	ENST00000353047.6	-	6	770_771	c.517_518insT	c.(517-519)tatfs	p.Y173fs	CTSB_ENST00000531089.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000345125.3_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000453527.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000525076.1_5'Flank|CTSB_ENST00000434271.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000533455.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000530640.2_Frame_Shift_Ins_p.Y173fs|RP11-589N15.2_ENST00000602711.1_RNA|CTSB_ENST00000534510.1_Frame_Shift_Ins_p.Y173fs	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	173					cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|decidualization (GO:0046697)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of apoptotic process (GO:0042981)|regulation of catalytic activity (GO:0050790)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|perinuclear region of cytoplasm (GO:0048471)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|proteoglycan binding (GO:0043394)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		ATGGGATTCATAGAGGCCACCA	0.45																																						ENST00000353047.6		NA																	0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16						c.(517-519)tatfs		cathepsin B																																				SO:0001589	frameshift_variant	1508				proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity	g.chr8:11705590_11705591insA	M14221	CCDS5986.1	8p23.1	2012-10-02			ENSG00000164733	ENSG00000164733	3.4.22.1	"""Cathepsins"""	2527	protein-coding gene	gene with protein product		116810				8112600, 3463996	Standard	XM_006716244		Approved		uc003wuq.3	P07858	OTTHUMG00000090799	ENST00000353047.6:c.518dupT	8.37:g.11705591_11705591dupA	ENSP00000345672:p.Tyr173fs	False	False		Somatic	1				CTSB_ENST00000531089.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000453527.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000534510.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000530640.2_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000434271.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000533455.1_Frame_Shift_Ins_p.Y173fs|CTSB_ENST00000345125.3_Frame_Shift_Ins_p.Y173fs	p.Y173fs	NM_001908.3	NP_001899.1	WXS	Illumina HiSeq	Phase_I	P07858	CATB_HUMAN	STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)	6	770_771	-	all_epithelial(15;0.205)		173					B3KQR5|B3KRR5|Q503A6|Q96D87	Frame_Shift_Ins	INS	ENST00000353047.6	37	c.517_518insT	CCDS5986.1																																																																																				0.450	CTSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207586.3	0	NM_147780		8:11705590
NEFL	4747	broad.mit.edu	37	8	24811789	24811790	+	RNA	INS	-	-	TTTGAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:24811789_24811790insTTTGAAA	ENST00000221169.5	-	0	1668_1669				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TTTGTGGTCCTCAATTCATTTT	0.351																																						ENST00000221169.5		NA																	0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21								neurofilament, light polypeptide																																						4747				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton	g.chr8:24811789_24811790insTTTGAAA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		8.37:g.24811789_24811790insTTTGAAA		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	P07196	NFL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	0	1668_1669	-		Ovarian(32;0.00965)|Prostate(55;0.157)	NA					B9ZVN2|Q16154|Q8IU72	RNA	INS	ENST00000221169.5	37																																																																																						0.351	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	0	NM_006158		8:24811789
ADAM32	203102	broad.mit.edu	37	8	39068803	39068804	+	Frame_Shift_Ins	INS	-	-	TATACTTCTGGAAACACATTTCTATATGATATAAATTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39068803_39068804insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	ENST00000379907.4	+	12	1320_1321	c.1193_1194insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	c.(1192-1197)agattgfs	p.RL398fs	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	398	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GGCAATGGCAGATTGGAGGGAA	0.327																																						ENST00000379907.4		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1192-1197)agattgfs		ADAM metallopeptidase domain 32																																				SO:0001589	frameshift_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39068803_39068804insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	Exception_encountered	8.37:g.39068803_39068804insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	ENSP00000369238:p.Arg398fs	False	False		Somatic	0				ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Intron	p.RL398fs	NM_145004.5	NP_659441.3	WXS	Illumina HiSeq	Phase_I	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		12	1320_1321	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	398			Disintegrin.		Q8TC42	Frame_Shift_Ins	INS	ENST00000379907.4	37	c.1193_1194insTATACTTCTGGAAACACATTTCTATATGATATAAATTA	CCDS47846.1																																																																																				0.327	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	0	NM_145004		8:39068803
ADAM18	8749	broad.mit.edu	37	8	39525716	39525717	+	Splice_Site	INS	-	-	AAAAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39525716_39525717insAAAAA	ENST00000265707.5	+	14	1570		c.e14+1		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTTGGAAAAGGTATTGCTCTTT	0.381																																						ENST00000265707.5		NA																	0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.e14+1		ADAM metallopeptidase domain 18																																				SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525716_39525717insAAAAA	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1525+1->AAAAA	8.37:g.39525716_39525717insAAAAA		False	False		Somatic	0				ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site		NM_014237.2	NP_055052.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1570	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	NA					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	INS	ENST00000265707.5	37		CCDS6113.1																																																																																				0.381	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	0	NM_014237	Intron	8:39525716
ADAM18	8749	broad.mit.edu	37	8	39525717	39525718	+	Splice_Site	INS	-	-	AAA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:39525717_39525718insAAA	ENST00000265707.5	+	14	1570		c.e14+2		ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTGGAAAAGGTATTGCTCTTTC	0.381																																						ENST00000265707.5		NA																	0				NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71						c.e14+2		ADAM metallopeptidase domain 18																																				SO:0001630	splice_region_variant	8749				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding	g.chr8:39525717_39525718insAAA	AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1525+2->AAA	8.37:g.39525717_39525718insAAA		False	False		Somatic	1				ADAM18_ENST00000541111.1_Splice_Site|ADAM18_ENST00000379866.1_Splice_Site		NM_014237.2	NP_055052.1	WXS	Illumina HiSeq	Phase_I	Q9Y3Q7	ADA18_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000199)		14	1570	+		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	NA					B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Splice_Site	INS	ENST00000265707.5	37		CCDS6113.1																																																																																				0.381	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376916.1	0	NM_014237	Intron	8:39525717
UBXN2B	137886	broad.mit.edu	37	8	59345800	59345801	+	In_Frame_Ins	INS	-	-	TGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:59345800_59345801insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	ENST00000399598.2	+	4	543_544	c.421_422insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	c.(421-423)gat>gTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGATat	p.141_141D>VS*NSQRIIQQKVIM*Y	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	141	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTACA	0.282																																						ENST00000399598.2		NA																	0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(421-423)gat>gTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGATat		UBX domain protein 2B																																				SO:0001652	inframe_insertion	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59345800_59345801insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	Exception_encountered	8.37:g.59345800_59345801insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	ENSP00000382507:p.Asp141delinsValSer*AsnSerGlnArgIleIleGlnGlnLysValIleMet*Tyr	False	False		Somatic	0				UBXN2B_ENST00000522978.1_3'UTR	p.141_141D>VS*NSQRIIQQKVIM*Y	NM_001077619.1	NP_001071087.1	WXS	Illumina HiSeq	Phase_I	Q14CS0	UBX2B_HUMAN			4	543_544	+			141			SEP.		B3KWZ3	In_Frame_Ins	INS	ENST00000399598.2	37	c.421_422insTGAGTTAAAATTCACAAAGGATTATTCAGCAAAAAGTTATTATGTGAT	CCDS43741.1																																																																																				0.282	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	0	NM_001077619		8:59345800
CYP7B1	9420	broad.mit.edu	37	8	65517413	65517414	+	Splice_Site	INS	-	-	CTTAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:65517413_65517414insCTTAGA	ENST00000310193.3	-	5	1231_1232	c.1058_1059insTCTAAG	c.(1057-1059)gaa>gaTCTAAGa	p.353_353E>DLR	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	353					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AAATGCTGCTTTCTGAAGGAAA	0.396																																						ENST00000310193.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1057-1059)gaa>gaTCTAAGa		cytochrome P450, family 7, subfamily B, polypeptide 1																																				SO:0001630	splice_region_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517413_65517414insCTTAGA	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1058-1->TCTAAG	8.37:g.65517413_65517414insCTTAGA		True	False		Somatic	0				CYP7B1_ENST00000523954.1_5'UTR	p.353_353E>DLR	NM_004820.3	NP_004811.1	WXS	Illumina HiSeq	Phase_I	O75881	CP7B1_HUMAN			5	1231_1232	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	353					B2RN07|Q9UNF5	Splice_Site	INS	ENST00000310193.3	37	c.1058_1059insTCTAAG	CCDS6180.1																																																																																				0.396	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1	0		In_Frame_Ins	8:65517413
CYP7B1	9420	broad.mit.edu	37	8	65517415	65517416	+	Splice_Site	INS	-	-	CTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:65517415_65517416insCTG	ENST00000310193.3	-	5	1231		c.e5-1		CYP7B1_ENST00000523954.1_Splice_Site	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1						bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ATGCTGCTTTCTGAAGGAAAAA	0.396																																						ENST00000310193.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.e5-1		cytochrome P450, family 7, subfamily B, polypeptide 1																																				SO:0001630	splice_region_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65517415_65517416insCTG	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1058-1->CAG	8.37:g.65517415_65517416insCTG		False	False		Somatic	0				CYP7B1_ENST00000523954.1_Splice_Site		NM_004820.3	NP_004811.1	WXS	Illumina HiSeq	Phase_I	O75881	CP7B1_HUMAN			5	1231	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	NA					B2RN07|Q9UNF5	Splice_Site	INS	ENST00000310193.3	37		CCDS6180.1																																																																																				0.396	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1	0		Intron	8:65517415
RAD54B	25788	broad.mit.edu	37	8	95384604	95384605	+	Frame_Shift_Ins	INS	-	-	TGGAGATCATTTAAATCTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:95384604_95384605insTGGAGATCATTTAAATCTTA	ENST00000336148.5	-	15	2650_2651	c.2526_2527insTAAGATTTAAATGATCTCCA	c.(2524-2529)ttggaafs	p.E843fs	RAD54B_ENST00000519348.1_De_novo_Start_OutOfFrame	NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	843					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATGAATTTTTCCAACGAATCAC	0.351								Direct reversal of damage;Homologous recombination																														ENST00000519348.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39							Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)																																				SO:0001589	frameshift_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95384604_95384605insTGGAGATCATTTAAATCTTA	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.2526_2527insTAAGATTTAAATGATCTCCA	8.37:g.95384604_95384605insTGGAGATCATTTAAATCTTA	ENSP00000336606:p.Glu843fs	False	False		Somatic	0				RAD54B_ENST00000336148.5_Frame_Shift_Ins_p.E843fs				WXS	Illumina HiSeq	Phase_I	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		0	89_90	-	Breast(36;4.5e-05)		NA					F6WBS8	Translation_Start_Site	INS	ENST00000336148.5	37		CCDS6262.1																																																																																				0.351	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	0	NM_012415		8:95384604
PABPC1	26986	broad.mit.edu	37	8	101719224	101719225	+	Splice_Site	INS	-	-	GGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	ENST00000318607.5	-	10	2465_2466	c.1337_1338insTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	c.(1336-1338)cca>ccTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCCa	p.-446fs	PABPC1_ENST00000522387.1_Splice_Site_p.-414fs|AP001205.1_ENST00000579868.1_RNA|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000519004.1_Splice_Site_p.-401fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|mRNA stabilization (GO:0048255)|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|translation activator activity (GO:0008494)			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TATTTTGGAATGCTGCATTTTA	0.416																																						ENST00000318607.5		NA																	0				breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40						c.(1336-1338)cca>ccTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCCa		poly(A) binding protein, cytoplasmic 1																																				SO:0001630	splice_region_variant	26986				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity	g.chr8:101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA	Y00345	CCDS6289.1	8q22.2-q23	2013-02-12	2004-04-20		ENSG00000070756	ENSG00000070756		"""RNA binding motif (RRM) containing"""	8554	protein-coding gene	gene with protein product		604679	"""poly(A)-binding protein, cytoplasmic 2"""	PAB1, PABPC2		2885805	Standard	XM_005250861		Approved	PABP1, PABPL1	uc003yjs.1	P11940	OTTHUMG00000164779	ENST00000318607.5:c.1337-1->TAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	8.37:g.101719224_101719225insGGATGAGGTCTGGCACCCTGAGCAGTCCAGCGAGGACTTGGTCTTA		False	False		Somatic	0				PABPC1_ENST00000522387.1_Splice_Site_p.-414fs|PABPC1_ENST00000519004.1_Splice_Site_p.-401fs|PABPC1_ENST00000519596.1_Intron	p.-446fs	NM_002568.3	NP_002559.2	WXS	Illumina HiSeq	Phase_I	P11940	PABP1_HUMAN	Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)		10	2465_2466	-	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		NA					Q15097|Q93004	Splice_Site	INS	ENST00000318607.5	37	c.1337_1338insTAAGACCAAGTCCTCGCTGGACTGCTCAGGGTGCCAGACCTCATCC	CCDS6289.1																																																																																				0.416	PABPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380217.1	0	NM_002568	Frame_Shift_Ins	8:101719224
MTBP	27085	broad.mit.edu	37	8	121500556	121500557	+	Frame_Shift_Ins	INS	-	-	ATTATCTT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:121500556_121500557insATTATCTT	ENST00000305949.1	+	12	1368_1369	c.1323_1324insATTATCTT	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_121500557insATTATCTT		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_121500557insATTATCTT	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_1324insATTATCTT	CCDS6333.1																																																																																				0.351	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	0	NM_022045		8:121500556
MTBP	27085	broad.mit.edu	37	8	121500557	121500558	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:121500557_121500558insTT	ENST00000305949.1	+	12	1369_1370	c.1324_1325insTT	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)			AACAAAGACAGAAGAAGCCAAA	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.chr8:121500557_121500558insTT		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.121500557_121500558insTT	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	1369_1370	+	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.1324_1325insTT	CCDS6333.1																																																																																				0.351	MTBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381530.1	0	NM_022045		8:121500557
ZC3H3	23144	broad.mit.edu	37	8	144620857	144620858	+	Frame_Shift_Ins	INS	-	-	CC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:144620857_144620858insCC	ENST00000262577.5	-	2	710_711	c.679_680insGG	c.(679-681)aagfs	p.K227fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	227					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GAAGCTCGCCTTGACGGCAATC	0.658																																						ENST00000262577.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(679-681)aagfs		zinc finger CCCH-type containing 3																																				SO:0001589	frameshift_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620857_144620858insCC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.679_680insGG	8.37:g.144620857_144620858insCC	ENSP00000262577:p.Lys227fs	False	False		Somatic	0					p.K227fs	NM_015117.2	NP_055932.2	WXS	Illumina HiSeq	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	710_711	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		227					Q14163|Q8N4E2|Q9BUS4	Frame_Shift_Ins	INS	ENST00000262577.5	37	c.679_680insGG	CCDS6402.1																																																																																				0.658	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	0	NM_015117		8:144620857
ZC3H3	23144	broad.mit.edu	37	8	144620858	144620859	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:144620858_144620859insC	ENST00000262577.5	-	2	709_710	c.678_679insG	c.(676-681)gtcaagfs	p.K227fs		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	227					mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			AAGCTCGCCTTGACGGCAATCA	0.658																																						ENST00000262577.5		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						c.(676-681)gtcaagfs		zinc finger CCCH-type containing 3																																				SO:0001589	frameshift_variant	23144				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	g.chr8:144620858_144620859insC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.678_679insG	8.37:g.144620858_144620859insC	ENSP00000262577:p.Lys227fs	False	False		Somatic	0					p.K227fs	NM_015117.2	NP_055932.2	WXS	Illumina HiSeq	Phase_I	Q8IXZ2	ZC3H3_HUMAN	Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)		2	709_710	-	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		227					Q14163|Q8N4E2|Q9BUS4	Frame_Shift_Ins	INS	ENST00000262577.5	37	c.678_679insG	CCDS6402.1																																																																																				0.658	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382011.2	0	NM_015117		8:144620858
PARP10	84875	broad.mit.edu	37	8	145059772	145059798	+	In_Frame_Del	DEL	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	rs146902781	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	-	-	CCTCCAGGCCCAGATTCTGGGCCTGCT	CCTCCAGGCCCAGATTCTGGGCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENST00000313028.7	-	4	549_575	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg	p.EQAQNLGLE152del	PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_In_Frame_Del_p.EQAQNLGLE152del	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	152					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCAAGGTCCCCTCCAGGCCCAGATTCTGGGCCTGCTCCTCCAGGAC	0.648																																						ENST00000524918.1		NA																	0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27						c.(454-483)gagcaggcccagaatctgggcctggagggg>ggg		poly (ADP-ribose) polymerase family, member 10																																				SO:0001651	inframe_deletion	84875					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding	g.chr8:145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	8.37:g.145059772_145059798delCCTCCAGGCCCAGATTCTGGGCCTGCT	ENSP00000325618:p.Glu152_Glu160del	False	False		Somatic	1				PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000525773.1_In_Frame_Del_p.EQAQNLGLE164del|PARP10_ENST00000313028.7_In_Frame_Del_p.EQAQNLGLE152del	p.EQAQNLGLE152del			WXS	Illumina HiSeq	Phase_I	Q53GL7	PAR10_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	541_567	-	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		152					Q8N2I0|Q8WV05|Q96CH7|Q96K72	In_Frame_Del	DEL	ENST00000313028.7	37	c.455_481delAGCAGGCCCAGAATCTGGGCCTGGAGG	CCDS34960.1																																																																																				0.648	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	0	NM_032789		8:145059772
DNASE2B	58511	broad.mit.edu	37	1	84876638	84876639	+	Frame_Shift_Ins	INS	-	-	ATAAATCAGAAAAACAAAGCTTCTTTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:84876638_84876639insATAAATCAGAAAAACAAAGCTTCTTTTA	ENST00000370665.3	+	4	536_537	c.503_504insATAAATCAGAAAAACAAAGCTTCTTTTA	c.(502-507)agtggcfs	p.SG168fs	DNASE2B_ENST00000370662.3_5'UTR	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	168					apoptotic DNA fragmentation (GO:0006309)	extracellular region (GO:0005576)|intracellular (GO:0005622)|lysosome (GO:0005764)	deoxyribonuclease II activity (GO:0004531)			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		AATGGACAAAGTGGCATCTGCA	0.401																																					Pancreas(54;788 1175 11852 16034 30034)	ENST00000370665.3		NA																	0				endometrium(1)|lung(4)|skin(1)	6						c.(502-507)agtggcfs		deoxyribonuclease II beta																																				SO:0001589	frameshift_variant	58511				DNA metabolic process	lysosome	deoxyribonuclease II activity	g.chr1:84876638_84876639insATAAATCAGAAAAACAAAGCTTCTTTTA	AF274571	CCDS694.1, CCDS44167.1	1p22.3	2008-02-05			ENSG00000137976	ENSG00000137976			28875	protein-coding gene	gene with protein product		608057				12594037, 11376952	Standard	NM_021233		Approved	DLAD	uc001djt.1	Q8WZ79	OTTHUMG00000009860	Exception_encountered	1.37:g.84876638_84876639insATAAATCAGAAAAACAAAGCTTCTTTTA	ENSP00000359699:p.Ser168fs	False	False		Somatic	0				DNASE2B_ENST00000370662.3_5'UTR	p.SG168fs	NM_021233.2	NP_067056.2	WXS	Illumina HiSeq	Phase_I	Q8WZ79	DNS2B_HUMAN		all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)	4	536_537	+			168					Q5VXD0|Q5VXD1|Q8WZ80|Q9NQW3	Frame_Shift_Ins	INS	ENST00000370665.3	37	c.503_504insATAAATCAGAAAAACAAAGCTTCTTTTA	CCDS44167.1																																																																																				0.401	DNASE2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000027248.1	0	NM_021233		1:84876638
SSX2IP	117178	broad.mit.edu	37	1	85116188	85116189	+	Frame_Shift_Ins	INS	-	-	GCTAAGGG	rs139023868|rs370254284		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:85116188_85116189insGCTAAGGG	ENST00000342203.3	-	13	1789_1790	c.1526_1527insCCCTTAGC	c.(1525-1527)atafs	p.-509fs	SSX2IP_ENST00000437941.2_Frame_Shift_Ins_p.-482fs|SSX2IP_ENST00000370612.4_Frame_Shift_Ins_p.-509fs|SSX2IP_ENST00000603677.1_Frame_Shift_Ins_p.-28fs|SSX2IP_ENST00000605755.1_Frame_Shift_Ins_p.-482fs	NM_001166293.1|NM_001166294.1|NM_014021.3	NP_001159765.1|NP_001159766.1|NP_054740.3	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein						cell adhesion (GO:0007155)|centrosome organization (GO:0051297)|regulation of cell motility (GO:2000145)|regulation of Rac protein signal transduction (GO:0035020)	cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|centriolar satellite (GO:0034451)|nucleus (GO:0005634)|protein complex (GO:0043234)				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCGAGTGCACTATAAGATTGTC	0.411																																						ENST00000437941.2		NA																	0				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19						c.(1444-1446)atafs		synovial sarcoma, X breakpoint 2 interacting protein																																				SO:0001589	frameshift_variant	117178				cell adhesion	nucleus|protein complex		g.chr1:85116188_85116189insGCTAAGGG		CCDS699.1, CCDS53337.1	1p22.3	2008-02-05			ENSG00000117155	ENSG00000117155			16509	protein-coding gene	gene with protein product		608690					Standard	NM_014021		Approved		uc001dkj.3	Q9Y2D8	OTTHUMG00000009926	ENST00000342203.3:c.1526_1527insCCCTTAGC	1.37:g.85116188_85116189insGCTAAGGG	ENSP00000340279:p.Ile509fs	False	False		Somatic	0				SSX2IP_ENST00000370612.4_Frame_Shift_Ins_p.-509fs|SSX2IP_ENST00000603677.1_Frame_Shift_Ins_p.-28fs|SSX2IP_ENST00000605755.1_Frame_Shift_Ins_p.-482fs|SSX2IP_ENST00000342203.3_Frame_Shift_Ins_p.-509fs	p.-482fs	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	WXS	Illumina HiSeq	Phase_I	Q9Y2D8	ADIP_HUMAN		all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	12	1797_1798	-			NA					A8K8W0|B4DFE3|D3DT13|J3KR02|Q6P2P8|Q6ULS1|Q7L168|Q9UIX0	Frame_Shift_Ins	INS	ENST00000342203.3	37	c.1445_1446insCCCTTAGC	CCDS699.1																																																																																				0.411	SSX2IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027469.1	0	NM_014021		1:85116188
RPAP2	79871	broad.mit.edu	37	1	92846390	92846391	+	Frame_Shift_Ins	INS	-	-	TGATAAGGGCAAAG	rs369665737		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:92846390_92846391insTGATAAGGGCAAAG	ENST00000610020.1	+	12	1907_1908	c.1798_1799insTGATAAGGGCAAAG	c.(1798-1800)agtfs	p.S600fs		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	600					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AGACCTTGAAAGTCTAACCATC	0.351																																						ENST00000370343.3		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(1798-1800)agtfs		RNA polymerase II associated protein 2																																				SO:0001589	frameshift_variant	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92846390_92846391insTGATAAGGGCAAAG	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	Exception_encountered	1.37:g.92846390_92846391insTGATAAGGGCAAAG	ENSP00000476948:p.Ser600fs	True	False		Somatic	0					p.S600fs	NM_024813.2	NP_079089.2	WXS	Illumina HiSeq	Phase_I	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	12	1907_1908	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	600					C9JKB5|Q49AS7|Q9H8Y2	Frame_Shift_Ins	INS	ENST00000610020.1	37	c.1798_1799insTGATAAGGGCAAAG	CCDS740.1																																																																																				0.351	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	0	NM_024813		1:92846390
KIAA2026	158358	broad.mit.edu	37	9	5920807	5920807	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:5920807delA	ENST00000399933.3	-	8	5188	c.5189delT	c.(5188-5190)gtafs	p.V1731fs	KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.V1701fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1731										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGGAGACACTACTGGTTGTGT	0.403																																						ENST00000399933.3		NA																	0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(5188-5190)gtafs		KIAA2026							136.0	132.0	133.0					9																	5920807		1924	4134	6058	SO:0001589	frameshift_variant	158358							g.chr9:5920807delA	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.5189delT	9.37:g.5920807delA	ENSP00000382815:p.Val1731fs	False	False		Somatic	1				KIAA2026_ENST00000381461.2_Frame_Shift_Del_p.V1701fs	p.V1731fs	NM_001017969.2	NP_001017969.2	WXS	Illumina HiSeq	Phase_I	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	5188	-		Acute lymphoblastic leukemia(23;0.158)	1731					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Del	DEL	ENST00000399933.3	37	c.5189delT																																																																																					0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	0	NM_001017969		9:5920807
KIAA2026	158358	broad.mit.edu	37	9	5922066	5922067	+	Frame_Shift_Ins	INS	-	-	TACATTAG	rs534993366		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:5922066_5922067insTACATTAG	ENST00000399933.3	-	8	3928_3929	c.3929_3930insCTAATGTA	c.(3928-3930)tcafs	p.-1310fs	KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.-1280fs	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026											breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AAGTGAAAACTGAACTTGAAGA	0.421																																						ENST00000399933.3		NA																	0				breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46						c.(3928-3930)tcafs		KIAA2026																																				SO:0001589	frameshift_variant	158358							g.chr9:5922066_5922067insTACATTAG	AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3929_3930insCTAATGTA	9.37:g.5922066_5922067insTACATTAG	ENSP00000382815:p.Ser1310fs	False	False		Somatic	0				KIAA2026_ENST00000381461.2_Frame_Shift_Ins_p.-1280fs	p.-1310fs	NM_001017969.2	NP_001017969.2	WXS	Illumina HiSeq	Phase_I	Q5HYC2	K2026_HUMAN		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)	8	3928_3929	-		Acute lymphoblastic leukemia(23;0.158)	NA					A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Frame_Shift_Ins	INS	ENST00000399933.3	37	c.3929_3930insCTAATGTA																																																																																					0.421	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000051652.2	0	NM_001017969		9:5922066
NFIB	4781	broad.mit.edu	37	9	14120540	14120541	+	Frame_Shift_Ins	INS	-	-	TAAGATTAGCACCTAAG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:14120540_14120541insTAAGATTAGCACCTAAG	ENST00000380959.3	-	8	1616_1617	c.1143_1144insCTTAGGTGCTAATCTTA	c.(1141-1146)tactttfs	p.F382fs	NFIB_ENST00000380953.1_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000397581.2_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000397575.3_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000543693.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000380924.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000380934.4_Frame_Shift_Ins_p.F408fs|NFIB_ENST00000397579.2_Frame_Shift_Ins_p.F382fs	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	382					anterior commissure morphogenesis (GO:0021960)|chondrocyte differentiation (GO:0002062)|Clara cell differentiation (GO:0060486)|commissural neuron axon guidance (GO:0071679)|DNA replication (GO:0006260)|glial cell differentiation (GO:0010001)|hindbrain development (GO:0030902)|lung ciliated cell differentiation (GO:0061141)|negative regulation of DNA binding (GO:0043392)|negative regulation of epithelial cell proliferation involved in lung morphogenesis (GO:2000795)|negative regulation of mesenchymal cell proliferation involved in lung development (GO:2000791)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|principal sensory nucleus of trigeminal nerve development (GO:0021740)|transcription from RNA polymerase II promoter (GO:0006366)|Type I pneumocyte differentiation (GO:0060509)|Type II pneumocyte differentiation (GO:0060510)	cerebellar mossy fiber (GO:0044300)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GGATGAGAAAAGTAGCTCGATG	0.48			T	"""MYB, HGMA2"""	"""adenoid cystic carcinoma, lipoma"""																																Esophageal Squamous(132;921 1730 14828 40753 46471)	ENST00000380959.3		NA		Dom	yes		9	9p24.1	4781	T	nuclear factor I/B			E	"""MYB, HGMA2"""		"""adenoid cystic carcinoma, lipoma"""		0				central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17						c.(1141-1146)tactttfs		nuclear factor I/B																																				SO:0001589	frameshift_variant	4781				anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr9:14120540_14120541insTAAGATTAGCACCTAAG	U07810	CCDS6474.1, CCDS55291.1, CCDS55292.1, CCDS65007.1	9p24.1	2008-02-05			ENSG00000147862	ENSG00000147862			7785	protein-coding gene	gene with protein product		600728				7590749	Standard	NM_001190737		Approved	NFI-RED, NFIB2, NFIB3	uc003zlf.3	O00712	OTTHUMG00000021027	ENST00000380959.3:c.1143_1144insCTTAGGTGCTAATCTTA	9.37:g.14120540_14120541insTAAGATTAGCACCTAAG	ENSP00000370346:p.Phe382fs	True	False		Somatic	0				NFIB_ENST00000397581.2_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000380924.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000397575.3_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000543693.1_Frame_Shift_Ins_p.F130fs|NFIB_ENST00000380934.4_Frame_Shift_Ins_p.F408fs|NFIB_ENST00000380953.1_Frame_Shift_Ins_p.F382fs|NFIB_ENST00000397579.2_Frame_Shift_Ins_p.F382fs	p.F382fs	NM_005596.3	NP_005587.2	WXS	Illumina HiSeq	Phase_I	O00712	NFIB_HUMAN		GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)	8	1616_1617	-			382					G3V1P1|H7BYE8|O00166|Q12858|Q5VW29|Q63HM5|Q6ZNF9|Q96J45	Frame_Shift_Ins	INS	ENST00000380959.3	37	c.1143_1144insCTTAGGTGCTAATCTTA	CCDS6474.1																																																																																				0.480	NFIB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055468.1	0	NM_005596		9:14120540
SLC24A2	25769	broad.mit.edu	37	9	19516348	19516349	+	In_Frame_Ins	INS	-	-	AGCATGAATGGT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:19516348_19516349insAGCATGAATGGT	ENST00000341998.2	-	10	1849_1850	c.1788_1789insACCATTCATGCT	c.(1786-1791)gtggct>gtgACCATTCATGCTgct	p.596_597VA>VTIHAA	SLC24A2_ENST00000286344.3_In_Frame_Ins_p.579_580VA>VTIHAA	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	596					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		CTGCTGACAGCCACTGGCTGGA	0.55																																						ENST00000341998.2		NA																	0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1786-1791)gtggct>gtgACCATTCATGCTgct		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2																																				SO:0001652	inframe_insertion	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19516348_19516349insAGCATGAATGGT	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.1788_1789insACCATTCATGCT	9.37:g.19516348_19516349insAGCATGAATGGT	ENSP00000344801:p.Val596_Ala597insThrIleHisAla	False	False		Somatic	0				SLC24A2_ENST00000286344.3_In_Frame_Ins_p.579_580VA>VTIHAA	p.596_597VA>VTIHAA	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	WXS	Illumina HiSeq	Phase_I	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	10	1849_1850	-			596					B7ZLL8|Q9NTN5|Q9NZQ4	In_Frame_Ins	INS	ENST00000341998.2	37	c.1788_1789insACCATTCATGCT	CCDS6493.1																																																																																				0.550	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	0	NM_020344		9:19516348
TLN1	7094	broad.mit.edu	37	9	35722212	35722213	+	Frame_Shift_Ins	INS	-	-	CCTAAGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:35722212_35722213insCCTAAGA	ENST00000314888.9	-	9	1204_1205	c.851_852insTCTTAGG	c.(850-852)aagfs	p.K284fs	TLN1_ENST00000540444.1_Frame_Shift_Ins_p.K284fs	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	284	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.|Interaction with LAYN. {ECO:0000250}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCACAATTCTTGTGTGCCTG	0.45																																						ENST00000314888.9		NA																	0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(850-852)aagfs		talin 1																																				SO:0001589	frameshift_variant	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35722212_35722213insCCTAAGA	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.851_852insTCTTAGG	9.37:g.35722212_35722213insCCTAAGA	ENSP00000316029:p.Lys284fs	True	False		Somatic	0				TLN1_ENST00000540444.1_Frame_Shift_Ins_p.K284fs	p.K284fs	NM_006289.3	NP_006280.3	WXS	Illumina HiSeq	Phase_I	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		9	1204_1205	-	all_epithelial(49;0.167)		284			FERM.|Interaction with LAYN (By similarity).		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Frame_Shift_Ins	INS	ENST00000314888.9	37	c.851_852insTCTTAGG	CCDS35009.1																																																																																				0.450	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	NM_006289		9:35722212
GBA2	57704	broad.mit.edu	37	9	35737876	35737877	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:35737876_35737877insTT	ENST00000378103.3	-	16	2896_2897	c.2373_2374insAA	c.(2371-2376)caggccfs	p.A792fs	GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378094.4_Frame_Shift_Ins_p.A792fs|GBA2_ENST00000378088.1_Frame_Shift_Ins_p.A93fs|GBA2_ENST00000545786.1_Frame_Shift_Ins_p.A798fs	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	792					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTGCAAAGGCCTGGACGTTCA	0.545																																						ENST00000378094.4		NA																	0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(2371-2376)caggccfs		glucosidase, beta (bile acid) 2																																				SO:0001589	frameshift_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35737876_35737877insTT	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2373_2374insAA	9.37:g.35737876_35737877insTT	ENSP00000367343:p.Ala792fs	False	False		Somatic	0				GBA2_ENST00000545786.1_Frame_Shift_Ins_p.A798fs|GBA2_ENST00000378088.1_Frame_Shift_Ins_p.A93fs|GBA2_ENST00000378103.3_Frame_Shift_Ins_p.A792fs	p.A792fs			WXS	Illumina HiSeq	Phase_I	Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		16	2886_2887	-	all_epithelial(49;0.167)		792					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Frame_Shift_Ins	INS	ENST00000378103.3	37	c.2373_2374insAA	CCDS6589.1																																																																																				0.545	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	0	NM_020944		9:35737876
IDNK	414328	broad.mit.edu	37	9	86258528	86258529	+	Frame_Shift_Ins	INS	-	-	TTTA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:86258528_86258529insTTTA	ENST00000376419.4	+	5	401_402	c.397_398insTTTA	c.(397-399)ggafs	p.G133fs	IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000454393.1_Frame_Shift_Ins_p.G176fs|IDNK_ENST00000376417.4_3'UTR|IDNK_ENST00000277124.8_Frame_Shift_Ins_p.G87fs	NM_001001551.3	NP_001001551.2	Q5T6J7	GNTK_HUMAN	idnK, gluconokinase homolog (E. coli)	133					D-gluconate catabolic process (GO:0046177)		ATP binding (GO:0005524)|gluconokinase activity (GO:0046316)										GGTCATCTCTGGACGCTTACTC	0.515																																						ENST00000376419.4		NA																	0					NA						c.(397-399)ggafs		idnK, gluconokinase homolog (E. coli)																																				SO:0001589	frameshift_variant	414328				carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity	g.chr9:86258528_86258529insTTTA	BC036421	CCDS35048.1, CCDS35048.2, CCDS59134.1	9q21.32	2012-03-30	2012-03-30	2012-03-30	ENSG00000148057	ENSG00000148057			31367	protein-coding gene	gene with protein product		611343	"""chromosome 9 open reading frame 103"""	C9orf103			Standard	NM_001001551		Approved	bA522I20.2	uc004amu.3	Q5T6J7	OTTHUMG00000020105	Exception_encountered	9.37:g.86258528_86258529insTTTA	ENSP00000365601:p.Gly133fs	False	False		Somatic	0				IDNK_ENST00000454393.1_Frame_Shift_Ins_p.G176fs|IDNK_ENST00000277124.8_Frame_Shift_Ins_p.G87fs|IDNK_ENST00000405990.3_3'UTR|IDNK_ENST00000376417.4_3'UTR	p.G133fs	NM_001001551.3	NP_001001551.2	WXS	Illumina HiSeq	Phase_I	Q5T6J7	GNTK_HUMAN			5	401_402	+			133					A5PLN6|Q5T6J6	Frame_Shift_Ins	INS	ENST00000376419.4	37	c.397_398insTTTA	CCDS35048.2																																																																																				0.515	IDNK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052837.2	0	NM_001001551		9:86258528
TSTD2	158427	broad.mit.edu	37	9	100388179	100388180	+	Frame_Shift_Ins	INS	-	-	AACCCTGATGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:100388179_100388180insAACCCTGATGA	ENST00000341170.4	-	3	647_648	c.265_266insTCATCAGGGTT	c.(265-267)caafs	p.Q89fs	TSTD2_ENST00000354801.2_5'UTR	NM_139246.4	NP_640339.4	Q5T7W7	TSTD2_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 2	89										large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						GATGCTGGTTTGGTCTGTGAAT	0.406																																						ENST00000341170.4		NA																	0				large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	15						c.(265-267)caafs		thiosulfate sulfurtransferase (rhodanese)-like domain containing 2																																				SO:0001589	frameshift_variant	158427							g.chr9:100388179_100388180insAACCCTGATGA	AF258575	CCDS6727.2	9q22.33	2013-09-20	2009-08-12	2009-08-12	ENSG00000136925	ENSG00000136925			30087	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 97"""	C9orf97		12477932	Standard	NM_139246		Approved	PP4189	uc004axn.3	Q5T7W7	OTTHUMG00000020328	ENST00000341170.4:c.265_266insTCATCAGGGTT	9.37:g.100388179_100388180insAACCCTGATGA	ENSP00000342499:p.Gln89fs	True	False		Somatic	0				TSTD2_ENST00000375172.2_5'UTR|TSTD2_ENST00000375165.1_5'UTR|TSTD2_ENST00000354801.2_5'UTR	p.Q89fs	NM_139246.4	NP_640339.4	WXS	Illumina HiSeq	Phase_I	Q5T7W7	TSTD2_HUMAN			3	647_648	-			89					A6NMJ4|A8K584|Q6ZQZ6|Q8IYM3|Q8WY73|Q96ML6|Q96MU1	Frame_Shift_Ins	INS	ENST00000341170.4	37	c.265_266insTCATCAGGGTT	CCDS6727.2																																																																																				0.406	TSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053325.4	0	NM_139246		9:100388179
TMEFF1	8577	broad.mit.edu	37	9	103261138	103261139	+	Frame_Shift_Ins	INS	-	-	TATATATTTGGCTTTTTATTACGTG			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:103261138_103261139insTATATATTTGGCTTTTTATTACGTG	ENST00000374879.4	+	2	720_721	c.288_289insTATATATTTGGCTTTTTATTACGTG	c.(289-291)tgtfs	p.C97fs	MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Ins_p.M60fs|TMEFF1_ENST00000334943.6_Frame_Shift_Ins_p.C58fs	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	97	Kazal-like 1. {ECO:0000255|PROSITE- ProRule:PRU00798}.				multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				ATGGTTTGAAATGTGCATGCCA	0.327																																						ENST00000374879.4		NA																	0				NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19						c.(289-291)tgtfs		transmembrane protein with EGF-like and two follistatin-like domains 1																																				SO:0001589	frameshift_variant	8577							g.chr9:103261138_103261139insTATATATTTGGCTTTTTATTACGTG	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	Exception_encountered	9.37:g.103261138_103261139insTATATATTTGGCTTTTTATTACGTG	ENSP00000364013:p.Cys97fs	True	False		Somatic	0				TMEFF1_ENST00000334943.6_Frame_Shift_Ins_p.C58fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Ins_p.M60fs	p.C97fs	NM_003692.4	NP_003683.2	WXS	Illumina HiSeq	Phase_I					2	720_721	+		Acute lymphoblastic leukemia(62;0.0452)	NA					Q13086|Q8N3T8	Frame_Shift_Ins	INS	ENST00000374879.4	37	c.288_289insTATATATTTGGCTTTTTATTACGTG	CCDS6750.1																																																																																				0.327	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053418.1	0	NM_003692		9:103261138
SMC2	10592	broad.mit.edu	37	9	106878586	106878587	+	In_Frame_Ins	INS	-	-	AATGCAAGTTTAGTAGTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:106878586_106878587insAATGCAAGTTTAGTAGTC	ENST00000286398.7	+	14	2065_2066	c.1777_1778insAATGCAAGTTTAGTAGTC	c.(1777-1779)gtt>gAATGCAAGTTTAGTAGTCtt	p.593_593V>ECKFSSL	SMC2_ENST00000374787.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000374793.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000303219.8_In_Frame_Ins_p.593_593V>ECKFSSL	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	593	Flexible hinge.				kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						aactctgagagttgctcagaat	0.342																																						ENST00000286398.7		NA																	0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(1777-1779)gtt>gAATGCAAGTTTAGTAGTCtt		structural maintenance of chromosomes 2																																				SO:0001652	inframe_insertion	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106878586_106878587insAATGCAAGTTTAGTAGTC	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	Exception_encountered	9.37:g.106878586_106878587insAATGCAAGTTTAGTAGTC	ENSP00000286398:p.Val593delinsGluCysLysPheSerSerLeu	False	False		Somatic	0				SMC2_ENST00000374793.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000374787.3_In_Frame_Ins_p.593_593V>ECKFSSL|SMC2_ENST00000303219.8_In_Frame_Ins_p.593_593V>ECKFSSL	p.593_593V>ECKFSSL	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina HiSeq	Phase_I	O95347	SMC2_HUMAN			14	2065_2066	+			593			Flexible hinge.		Q6IEE0|Q9P1P2	In_Frame_Ins	INS	ENST00000286398.7	37	c.1777_1778insAATGCAAGTTTAGTAGTC	CCDS35086.1																																																																																				0.342	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0			9:106878586
ZNF483	158399	broad.mit.edu	37	9	114296606	114296607	+	In_Frame_Ins	INS	-	-	TTCTCC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:114296606_114296607insTTCTCC	ENST00000309235.5	+	5	852_853	c.694_695insTTCTCC	c.(694-696)gaa>gTTCTCCaa	p.232_232E>VLQ	ZNF483_ENST00000355824.3_In_Frame_Ins_p.232_232E>VLQ|ZNF483_ENST00000358151.4_In_Frame_Ins_p.232_232E>VLQ	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	232	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATGGCTGCTGGAAGAAGTCTCA	0.386																																						ENST00000309235.5		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(694-696)gaa>gTTCTCCaa		zinc finger protein 483																																				SO:0001652	inframe_insertion	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114296606_114296607insTTCTCC	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	Exception_encountered	9.37:g.114296606_114296607insTTCTCC	ENSP00000311679:p.Glu232delinsValLeuGln	False	False		Somatic	0				ZNF483_ENST00000358151.4_In_Frame_Ins_p.232_232E>VLQ|ZNF483_ENST00000355824.3_In_Frame_Ins_p.232_232E>VLQ	p.232_232E>VLQ	NM_133464.2	NP_597721.2	WXS	Illumina HiSeq	Phase_I	Q8TF39	ZN483_HUMAN			5	852_853	+			232			KRAB.		Q5VZN2|Q8NAE1	In_Frame_Ins	INS	ENST00000309235.5	37	c.694_695insTTCTCC	CCDS35106.1																																																																																				0.386	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	0	XM_088567		9:114296606
ZNF483	158399	broad.mit.edu	37	9	114296608	114296609	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:114296608_114296609insG	ENST00000309235.5	+	5	854_855	c.696_697insG	c.(697-699)gaafs	p.E233fs	ZNF483_ENST00000355824.3_Frame_Shift_Ins_p.E233fs|ZNF483_ENST00000358151.4_Frame_Shift_Ins_p.E233fs	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	233	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GGCTGCTGGAAGAAGTCTCAAA	0.386																																						ENST00000309235.5		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						c.(697-699)gaafs		zinc finger protein 483																																				SO:0001589	frameshift_variant	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114296608_114296609insG	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.697dupG	9.37:g.114296609_114296609dupG	ENSP00000311679:p.Glu233fs	False	False		Somatic	1				ZNF483_ENST00000358151.4_Frame_Shift_Ins_p.E233fs|ZNF483_ENST00000355824.3_Frame_Shift_Ins_p.E233fs	p.E233fs	NM_133464.2	NP_597721.2	WXS	Illumina HiSeq	Phase_I	Q8TF39	ZN483_HUMAN			5	854_855	+			233			KRAB.		Q5VZN2|Q8NAE1	Frame_Shift_Ins	INS	ENST00000309235.5	37	c.696_697insG	CCDS35106.1																																																																																				0.386	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	0	XM_088567		9:114296608
BSPRY	54836	broad.mit.edu	37	9	116116618	116116619	+	Splice_Site	INS	-	-	ATTTTCTCCT			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:116116618_116116619insATTTTCTCCT	ENST00000374183.4	+	2	339	c.300_300insATTTTCTCCT	c.(301-303)agc>agATTTTCTCCTc	p.S101fs	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	101					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AAAGAGCAGTGGTAATTCCTCT	0.525																																						ENST00000374183.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(301-303)agc>agATTTTCTCCTc		B-box and SPRY domain containing																																				SO:0001630	splice_region_variant	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116116618_116116619insATTTTCTCCT	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.300+1->ATTTTCTCCT	9.37:g.116116618_116116619insATTTTCTCCT		False	False		Somatic	0				BSPRY_ENST00000462085.1_3'UTR	p.S101fs	NM_017688.2	NP_060158.2	WXS	Illumina HiSeq	Phase_I	Q5W0U4	BSPRY_HUMAN			2	339	+			101					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Splice_Site	INS	ENST00000374183.4	37	c.300_300insATTTTCTCCT	CCDS43868.1																																																																																				0.525	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	0	NM_017688	Frame_Shift_Ins	9:116116618
ZBTB34	403341	broad.mit.edu	37	9	129642528	129642529	+	Frame_Shift_Ins	INS	-	-	CTCTATCTGA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:129642528_129642529insCTCTATCTGA	ENST00000373452.2	+	1	902_903	c.838_839insCTCTATCTGA	c.(838-840)cagfs	p.Q280fs	ZBTB34_ENST00000319119.4_Frame_Shift_Ins_p.Q284fs			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						TTCTGTGCTCCAGCACGCATAC	0.53																																						ENST00000319119.4		NA																	0				endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						c.(850-852)cagfs		zinc finger and BTB domain containing 34																																				SO:0001589	frameshift_variant	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642528_129642529insCTCTATCTGA	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	Exception_encountered	9.37:g.129642528_129642529insCTCTATCTGA	ENSP00000362551:p.Gln280fs	False	False		Somatic	0				ZBTB34_ENST00000373452.2_Frame_Shift_Ins_p.Q280fs	p.Q284fs	NM_001099270.1	NP_001092740.1	WXS	Illumina HiSeq	Phase_I	Q8NCN2	ZBT34_HUMAN			2	935_936	+			280					Q38IA7|Q5VYE9	Frame_Shift_Ins	INS	ENST00000373452.2	37	c.850_851insCTCTATCTGA	CCDS48023.1																																																																																				0.530	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001099270		9:129642528
CIZ1	25792	broad.mit.edu	37	9	130948036	130948037	+	Frame_Shift_Ins	INS	-	-	AACCCTTC			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr9:130948036_130948037insAACCCTTC	ENST00000393608.1	-	5	579_580	c.377_378insGAAGGGTT	c.(376-378)ggcfs	p.G126fs	CIZ1_ENST00000277465.4_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000357558.5_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372948.3_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372954.1_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000541172.1_Frame_Shift_Ins_p.G25fs|CIZ1_ENST00000325721.8_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000538431.1_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372938.5_Frame_Shift_Ins_p.G126fs	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	126					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGGATGCCATGCCATAGCCTCG	0.609																																						ENST00000393608.1		NA																	0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						c.(376-378)ggcfs		CDKN1A interacting zinc finger protein 1																																				SO:0001589	frameshift_variant	25792					nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr9:130948036_130948037insAACCCTTC	AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.377_378insGAAGGGTT	9.37:g.130948036_130948037insAACCCTTC	ENSP00000377232:p.Gly126fs	True	False		Somatic	0				CIZ1_ENST00000357558.5_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000325721.8_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000541172.1_Frame_Shift_Ins_p.G25fs|CIZ1_ENST00000538431.1_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000372954.1_Frame_Shift_Ins_p.G102fs|CIZ1_ENST00000277465.4_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372948.3_Frame_Shift_Ins_p.G126fs|CIZ1_ENST00000372938.5_Frame_Shift_Ins_p.G126fs	p.G126fs	NM_012127.2	NP_036259.2	WXS	Illumina HiSeq	Phase_I	Q9ULV3	CIZ1_HUMAN			5	579_580	-			126					A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Frame_Shift_Ins	INS	ENST00000393608.1	37	c.377_378insGAAGGGTT	CCDS6894.1																																																																																				0.609	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054399.1	0	NM_012127		9:130948036
AKR1C3	8644	broad.mit.edu	37	10	5144829	5144830	+	Frame_Shift_Ins	INS	-	-	CATC	rs549398696		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:5144829_5144830insCATC	ENST00000380554.3	+	7	1485_1486	c.833_834insCATC	c.(832-837)agacagfs	p.RQ278fs	AKR1C3_ENST00000605149.1_Frame_Shift_Ins_p.RQ255fs|AKR1C3_ENST00000439082.2_Frame_Shift_Ins_p.RQ159fs	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	278					arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Bimatoprost(DB00905)|Doxorubicin(DB00997)	CAGCGCATCAGACAGAACGTGC	0.599																																						ENST00000380554.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14						c.(832-837)agacagfs		aldo-keto reductase family 1, member C3	Dimethyl sulfoxide(DB01093)|NADH(DB00157)																																			SO:0001589	frameshift_variant	8644				prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	g.chr10:5144829_5144830insCATC	L43839	CCDS7063.1, CCDS73062.1	10p15-p14	2012-12-04	2012-12-04		ENSG00000196139	ENSG00000196139	1.1.1.213, 1.1.1.188	"""Aldo-keto reductases"""	386	protein-coding gene	gene with protein product	"""dihydrodiol dehydrogenase X"", ""prostaglandin F synthase"", ""3-alpha hydroxysteroid dehydrogenase, type II"""	603966	"""hydroxysteroid (17-beta) dehydrogenase 5"", ""aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)"""	HSD17B5		7650035, 9792917	Standard	NM_003739		Approved	KIAA0119, DDX, HAKRB, PGFS	uc021pml.1	P42330	OTTHUMG00000017585	Exception_encountered	10.37:g.5144829_5144830insCATC	ENSP00000369927:p.Arg278fs	True	False		Somatic	0				AKR1C3_ENST00000439082.2_Frame_Shift_Ins_p.RQ159fs|AKR1C3_ENST00000605149.1_Frame_Shift_Ins_p.RQ255fs	p.RQ278fs	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	WXS	Illumina HiSeq	Phase_I	P42330	AK1C3_HUMAN			7	1485_1486	+			278					A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9	Frame_Shift_Ins	INS	ENST00000380554.3	37	c.833_834insCATC	CCDS7063.1																																																																																				0.599	AKR1C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046533.2	0	NM_003739		10:5144829
CUBN	8029	broad.mit.edu	37	10	17107592	17107593	+	Frame_Shift_Ins	INS	-	-	AGCTATA			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	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
LRRC37A6P	387646	broad.mit.edu	37	10	27536701	27536704	+	lincRNA	DEL	TAGA	TAGA	-	rs142613546|rs377241928	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	TAGA	TAGA	-	-	TAGA	TAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr10:27536701_27536704delTAGA	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							TTCCTGTGGTTAGATAGTTTCTAA	0.407														1006	0.200879	0.0189	0.2104	5008	,	,		18951	0.3274		0.2445	False		,,,				2504	0.2648					ENST00000574842.1		NA																	0					NA																																														0							g.chr10:27536701_27536704delTAGA																													10.37:g.27536701_27536704delTAGA		False	False		Somatic	1				LRRC37A6P_ENST00000284414.4_RNA				WXS	Illumina HiSeq	Phase_I					0	255	+			NA						RNA	DEL	ENST00000574842.1	37																																																																																						0.407	RP11-85G18.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000436904.1	0			10:27536701
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000311936.3_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>G	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>C	12.37:g.25398285C>G	ENSP00000256078:p.Gly12Arg	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R	p.G12R	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)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>C	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
OR10K2	391107	broad.mit.edu	37	1	158390039	158390039	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:158390039G>A	ENST00000314902.2	-	1	617	c.618C>T	c.(616-618)gtC>gtT	p.V206V		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					GGATAGCCAGGACCAATGTAC	0.443																																						ENST00000314902.2		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(616-618)gtC>gtT		olfactory receptor, family 10, subfamily K, member 2							145.0	131.0	135.0					1																	158390039		2203	4300	6503	SO:0001819	synonymous_variant	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390039G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.618C>T	1.37:g.158390039G>A		False	False		Somatic	0					p.V206V	NM_001004476.1	NP_001004476.1	WXS	Illumina HiSeq	Phase_I	Q6IF99	O10K2_HUMAN			1	617	-	all_hematologic(112;0.0378)		206						Silent	SNP	ENST00000314902.2	37	c.618C>T	CCDS30896.1																																																																																				0.443	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	0	NM_001004476		1:158390039
IGSF1	3547	broad.mit.edu	37	X	130408064	130408064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chrX:130408064G>A	ENST00000361420.3	-	19	3947	c.3868C>T	c.(3868-3870)Cga>Tga	p.R1290*	IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R1295*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R1281*|IGSF1_ENST00000370904.1_Nonsense_Mutation_p.R1281*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1290					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TACCTGGTTCGCAGTCGAGGC	0.502																																						ENST00000370904.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(3841-3843)Cga>Tga		immunoglobulin superfamily, member 1							239.0	218.0	225.0					X																	130408064		2203	4300	6503	SO:0001587	stop_gained	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130408064G>A	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3868C>T	X.37:g.130408064G>A	ENSP00000355010:p.Arg1290*	False	False		Somatic	0				IGSF1_ENST00000370910.1_Nonsense_Mutation_p.R1281*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.R1290*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.R1295*	p.R1281*			WXS	Illumina HiSeq	Phase_I	Q8N6C5	IGSF1_HUMAN			25	4751	-			1290					B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	ENST00000361420.3	37	c.3841C>T	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	G	42	9.400588	0.99159	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	4.48	4.48	0.54585	.	0.350736	0.21139	N	0.079510	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.4099	0.49919	0.0:0.0:1.0:0.0	.	.	.	.	X	1281;1290;1281;1295	.	ENSP00000355010:R1290X	R	-	1	2	IGSF1	130235745	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.588000	0.36633	2.465000	0.83290	0.544000	0.68410	CGA		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1	0			X:130408064
SEMG2	6407	broad.mit.edu	37	20	43851593	43851593	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:43851593G>C	ENST00000372769.3	+	2	1410	c.1320G>C	c.(1318-1320)gaG>gaC	p.E440D		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	440	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction (GO:0019953)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAACTGAAGAGAAAATACATG	0.383																																						ENST00000372769.3		NA																	0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1318-1320)gaG>gaC		semenogelin II							77.0	75.0	76.0					20																	43851593		2203	4300	6503	SO:0001583	missense	6407				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43851593G>C		CCDS13346.1	20q12-q13.1	2008-07-02			ENSG00000124157	ENSG00000124157			10743	protein-coding gene	gene with protein product	"""Semenogelin 2"""	182141				1517240, 9523691	Standard	NM_003008		Approved	SGII	uc002xnk.3	Q02383	OTTHUMG00000032566	ENST00000372769.3:c.1320G>C	20.37:g.43851593G>C	ENSP00000361855:p.Glu440Asp	True	False		Somatic	0					p.E440D	NM_003008.2	NP_002999.1	WXS	Illumina HiSeq	Phase_I	Q02383	SEMG2_HUMAN			2	1410	+		Myeloproliferative disorder(115;0.0122)	440			4 X 60 AA tandem repeats, type I.|Repeat-rich region.		Q53ZU2|Q6X2M5|Q6X2M6	Missense_Mutation	SNP	ENST00000372769.3	37	c.1320G>C	CCDS13346.1	.	.	.	.	.	.	.	.	.	.	G	5.930	0.355577	0.11239	.	.	ENSG00000124157	ENST00000372769	T	0.10005	2.92	1.03	-1.67	0.08238	.	.	.	.	.	T	0.14141	0.0342	L	0.27053	0.805	0.09310	N	1	P;B	0.51057	0.941;0.004	D;B	0.71414	0.973;0.012	T	0.18209	-1.0344	9	0.41790	T	0.15	.	3.074	0.06240	0.0:0.2992:0.3985:0.3023	.	440;440	A8K6Z6;Q02383	.;SEMG2_HUMAN	D	440	ENSP00000361855:E440D	ENSP00000361855:E440D	E	+	3	2	SEMG2	43285007	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.388000	0.07352	-0.534000	0.06315	-1.468000	0.01013	GAG		0.383	SEMG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079417.1	0	NM_003008		20:43851593
SACS	26278	broad.mit.edu	37	13	23906194	23906194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr13:23906194G>A	ENST00000382292.3	-	9	12094	c.11821C>T	c.(11821-11823)Caa>Taa	p.Q3941*	SACS_ENST00000382298.3_Nonsense_Mutation_p.Q3941*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3191*			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	3941					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ACTAACATTTGCACACCAATA	0.403																																						ENST00000382298.3		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(11821-11823)Caa>Taa		spastic ataxia of Charlevoix-Saguenay (sacsin)							127.0	117.0	120.0					13																	23906194		2203	4300	6503	SO:0001587	stop_gained	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23906194G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.11821C>T	13.37:g.23906194G>A	ENSP00000371729:p.Gln3941*	True	False		Somatic	0				SACS_ENST00000402364.1_Nonsense_Mutation_p.Q3191*|SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3941*	p.Q3941*	NM_014363.4	NP_055178.3	WXS	Illumina HiSeq	Phase_I	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12409	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	3941					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Nonsense_Mutation	SNP	ENST00000382292.3	37	c.11821C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	58	33.524865	0.99981	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	.	.	.	5.82	5.82	0.92795	.	0.053109	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	20.1013	0.97878	0.0:0.0:1.0:0.0	.	.	.	.	X	3941;3191;3941	.	ENSP00000371729:Q3941X	Q	-	1	0	SACS	22804194	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	9.865000	0.99609	2.748000	0.94277	0.655000	0.94253	CAA		0.403	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	0	NM_014363		13:23906194
TTC3	7267	broad.mit.edu	37	21	38572533	38572533	+	Splice_Site	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr21:38572533G>A	ENST00000399017.2	+	45	8598	c.5851G>A	c.(5851-5853)Gca>Aca	p.A1951T	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Splice_Site_p.A1951T|TTC3_ENST00000354749.2_Splice_Site_p.A1951T	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1951					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				GTTTCCACAGGCACTGGGTGC	0.428																																					Ovarian(38;194 1649 35661)	ENST00000399017.2		NA																	0				breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75						c.(5851-5853)Gca>Aca		tetratricopeptide repeat domain 3							68.0	62.0	64.0					21																	38572533		2203	4300	6503	SO:0001630	splice_region_variant	7267				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr21:38572533G>A	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.5851-1G>A	21.37:g.38572533G>A		False	False		Somatic	0				TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Splice_Site_p.A1951T|TTC3_ENST00000355666.1_Splice_Site_p.A1951T	p.A1951T	NM_003316.3	NP_003307.3	WXS	Illumina HiSeq	Phase_I	P53804	TTC3_HUMAN			45	8598	+		Myeloproliferative disorder(46;0.0412)	1951					A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Splice_Site	SNP	ENST00000399017.2	37	c.5851G>A	CCDS13651.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.961|3.961	-0.010251|-0.010251	0.07727|0.07727	.|.	.|.	ENSG00000182670|ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749|ENST00000428693	T;T;T|.	0.08807|.	3.05;3.05;3.05|.	5.58|5.58	1.74|1.74	0.24563|0.24563	.|.	0.905217|.	0.09312|.	N|.	0.819490|.	T|T	0.45776|0.45776	0.1359|0.1359	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.18461|.	0.028|.	B|.	0.12837|.	0.008|.	T|T	0.25398|0.25398	-1.0133|-1.0133	9|5	.|.	.|.	.|.	-0.7948|-0.7948	3.6024|3.6024	0.08030|0.08030	0.2713:0.0:0.553:0.1756|0.2713:0.0:0.553:0.1756	.|.	1951|.	P53804|.	TTC3_HUMAN|.	T|Y	1951|242	ENSP00000347889:A1951T;ENSP00000381981:A1951T;ENSP00000346791:A1951T|.	.|.	A|C	+|+	1|2	0|0	TTC3|TTC3	37494403|37494403	0.258000|0.258000	0.24033|0.24033	0.448000|0.448000	0.26945|0.26945	0.031000|0.031000	0.12232|0.12232	0.312000|0.312000	0.19397|0.19397	0.303000|0.303000	0.22785|0.22785	-0.182000|-0.182000	0.12963|0.12963	GCA|TGC		0.428	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1	0		Missense_Mutation	21:38572533
FBN3	84467	broad.mit.edu	37	19	8130859	8130859	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:8130859G>A	ENST00000600128.1	-	64	8788	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q2792*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q2792*			Q75N90	FBN3_HUMAN	fibrillin 3	2792						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCCTGGCTGCCCCTCTGGC	0.687																																						ENST00000600128.1		NA																	0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8374-8376)Cag>Tag		fibrillin 3							29.0	31.0	31.0					19																	8130859		2200	4296	6496	SO:0001587	stop_gained	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130859G>A		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8374C>T	19.37:g.8130859G>A	ENSP00000470498:p.Gln2792*	True	False		Somatic	0				FBN3_ENST00000601739.1_Nonsense_Mutation_p.Q2792*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.Q2792*	p.Q2792*			WXS	Illumina HiSeq	Phase_I	Q75N90	FBN3_HUMAN			64	8788	-			2792					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Nonsense_Mutation	SNP	ENST00000600128.1	37	c.8374C>T	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	G	48	14.127981	0.99781	.	.	ENSG00000142449	ENST00000270509;ENST00000341066	.	.	.	3.83	-4.06	0.03986	.	0.602780	0.16277	U	0.221518	.	.	.	.	.	.	0.37599	D	0.920499	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	9.7216	0.40306	0.5538:0.0:0.4462:0.0	.	.	.	.	X	2792;855	.	ENSP00000270509:Q2792X	Q	-	1	0	FBN3	8036859	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.106000	0.15354	-0.844000	0.04184	-0.768000	0.03414	CAG		0.687	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	0	NM_032447		19:8130859
KRT31	3881	broad.mit.edu	37	17	39551782	39551782	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:39551782T>C	ENST00000251645.2	-	4	734	c.682A>G	c.(682-684)Acc>Gcc	p.T228A		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	228	Coil 2.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGACTCCTGGTCTCGTTCAGC	0.597																																						ENST00000251645.2		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31						c.(682-684)Acc>Gcc		keratin 31							103.0	91.0	95.0					17																	39551782		2203	4300	6503	SO:0001583	missense	3881				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39551782T>C	X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.682A>G	17.37:g.39551782T>C	ENSP00000251645:p.Thr228Ala	False	False		Somatic	0					p.T228A	NM_002277.2	NP_002268.2	WXS	Illumina HiSeq	Phase_I	Q15323	K1H1_HUMAN			4	734	-		Breast(137;0.000496)	228			Coil 2.|Rod.		Q9UE12	Missense_Mutation	SNP	ENST00000251645.2	37	c.682A>G	CCDS11391.1	.	.	.	.	.	.	.	.	.	.	t	13.06	2.125541	0.37533	.	.	ENSG00000094796	ENST00000251645	D	0.88586	-2.4	5.4	4.33	0.51752	Filament (1);	0.180058	0.39759	N	0.001269	D	0.86764	0.6011	L	0.50333	1.59	0.31092	N	0.710708	B	0.22604	0.072	B	0.32980	0.156	D	0.84831	0.0802	10	0.87932	D	0	.	10.2699	0.43477	0.0:0.0774:0.0:0.9226	.	228	Q15323	K1H1_HUMAN	A	228	ENSP00000251645:T228A	ENSP00000251645:T228A	T	-	1	0	KRT31	36805308	0.978000	0.34361	0.998000	0.56505	0.529000	0.34654	1.848000	0.39309	0.888000	0.36160	0.460000	0.39030	ACC		0.597	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257286.1	0	NM_002277		17:39551782
DGKB	1607	broad.mit.edu	37	7	14724956	14724956	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:14724956C>T	ENST00000403951.2	-	10	1162	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	DGKB_ENST00000399322.3_Missense_Mutation_p.R248Q|DGKB_ENST00000406247.3_Missense_Mutation_p.R248Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R241Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R241Q|DGKB_ENST00000402815.1_Missense_Mutation_p.R248Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000258767.5_Missense_Mutation_p.R248Q			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	248					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						GTGCTTCAGTCGCCACACGTG	0.463																																						ENST00000403951.2		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(742-744)cGa>cAa		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						105.0	106.0	106.0					7																	14724956		2199	4292	6491	SO:0001583	missense	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14724956C>T	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.743G>A	7.37:g.14724956C>T	ENSP00000385780:p.Arg248Gln	False	False		Somatic	0				DGKB_ENST00000406247.3_Missense_Mutation_p.R248Q|DGKB_ENST00000258767.5_Missense_Mutation_p.R248Q|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.R248Q|DGKB_ENST00000407950.1_Missense_Mutation_p.R241Q|DGKB_ENST00000444700.2_Missense_Mutation_p.R241Q|DGKB_ENST00000399322.3_Missense_Mutation_p.R248Q	p.R248Q			WXS	Illumina HiSeq	Phase_I	Q9Y6T7	DGKB_HUMAN			10	1162	-			248					A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Missense_Mutation	SNP	ENST00000403951.2	37	c.743G>A	CCDS47547.1	.	.	.	.	.	.	.	.	.	.	C	36	5.902986	0.97087	.	.	ENSG00000136267	ENST00000403951;ENST00000399322;ENST00000258767;ENST00000402815;ENST00000407950;ENST00000444700;ENST00000406247	D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	6.16	6.16	0.99307	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.052374	0.64402	D	0.000001	D	0.94683	0.8285	L	0.43701	1.375	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.995;0.995;1.0	D;P;P;D	0.70227	0.943;0.876;0.876;0.968	D	0.93847	0.7142	10	0.52906	T	0.07	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	248;241;248;248	B7ZL83;C9JTC0;Q9Y6T7-2;Q9Y6T7	.;.;.;DGKB_HUMAN	Q	248;248;248;248;241;241;248	ENSP00000385780:R248Q;ENSP00000382260:R248Q;ENSP00000258767:R248Q;ENSP00000384909:R248Q;ENSP00000385031:R241Q;ENSP00000388451:R241Q;ENSP00000386066:R248Q	ENSP00000258767:R248Q	R	-	2	0	DGKB	14691481	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	CGA		0.463	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	0	NM_004080		7:14724956
GLI3	2737	broad.mit.edu	37	7	42004926	42004926	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004926A>C	ENST00000395925.3	-	15	3829	c.3745T>G	c.(3745-3747)Tgt>Ggt	p.C1249G	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1249					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGGCCTTACAGGGCTGTTCA	0.612									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3745-3747)Tgt>Ggt		GLI family zinc finger 3							73.0	76.0	75.0					7																	42004926		2203	4300	6503	SO:0001583	missense	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004926A>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3745T>G	7.37:g.42004926A>C	ENSP00000379258:p.Cys1249Gly	True	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.C1249G	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			15	3829	-			1249					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3745T>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	A	8.711	0.912013	0.17907	.	.	ENSG00000106571	ENST00000395925	T	0.12465	2.68	5.8	3.26	0.37387	.	0.934476	0.09053	N	0.855569	T	0.12475	0.0303	L	0.49126	1.545	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19451	-1.0305	10	0.26408	T	0.33	.	5.4414	0.16511	0.4156:0.3209:0.0:0.2635	.	1249	P10071	GLI3_HUMAN	G	1249	ENSP00000379258:C1249G	ENSP00000379258:C1249G	C	-	1	0	GLI3	41971451	0.095000	0.21747	0.036000	0.18154	0.117000	0.20001	1.910000	0.39927	2.209000	0.71365	0.533000	0.62120	TGT		0.612	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42004926
NRG1	3084	broad.mit.edu	37	8	32505402	32505402	+	Intron	SNP	G	G	A	rs148668339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:32505402G>A	ENST00000405005.3	+	5	502				NRG1_ENST00000520407.1_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000520502.2_Missense_Mutation_p.V56M|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GGGCCTGGCCGTGCCCTGCTG	0.602																																						ENST00000520502.2		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(166-168)Gtg>Atg		neuregulin 1		G	,,,,,,,,,,,,MET/VAL,,,	0,4406		0,0,2203	65.0	62.0	63.0		,,,,,,,,,,,,166,,,	1.6	0.0	8	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,intron,intron	NRG1	NM_001159995.1,NM_001159999.1,NM_001160001.1,NM_001160002.1,NM_001160004.1,NM_001160005.1,NM_001160007.1,NM_001160008.1,NM_004495.3,NM_013956.3,NM_013957.3,NM_013958.3,NM_013959.3,NM_013960.3,NM_013962.2,NM_013964.3	,,,,,,,,,,,,21,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,,,,,,,,,,,	,,,,,,,,,,,,56/297,,,	32505402	1,13005	2203	4300	6503	SO:0001627	intron_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32505402G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.502+30999G>A	8.37:g.32505402G>A		False	False		Somatic	0				NRG1_ENST00000520407.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000523079.1_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000405005.3_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000287845.5_Intron	p.V56M	NM_013959.3	NP_039253.1	WXS	Illumina HiSeq	Phase_I	Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	1	166	+		Breast(100;0.203)	0			Ig-like C2-type.		A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	c.166G>A	CCDS6085.1	.	.	.	.	.	.	.	.	.	.	G	9.320	1.057731	0.19907	0.0	1.16E-4	ENSG00000157168	ENST00000520502;ENST00000523041	.	.	.	6.08	1.64	0.23874	.	.	.	.	.	T	0.13884	0.0336	N	0.19112	0.55	0.09310	N	1	P;B	0.42123	0.771;0.317	B;B	0.30105	0.111;0.049	T	0.15407	-1.0438	8	0.72032	D	0.01	.	3.9902	0.09533	0.1103:0.2075:0.4709:0.2113	.	56;56	Q53F54;Q02297-10	.;.	M	56;16	.	ENSP00000433289:V56M	V	+	1	0	NRG1	32624944	0.004000	0.15560	0.000000	0.03702	0.656000	0.38851	1.487000	0.35540	0.415000	0.25817	0.655000	0.94253	GTG		0.602	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1	0			8:32505402
CLVS1	157807	broad.mit.edu	37	8	62212794	62212794	+	Silent	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr8:62212794C>T	ENST00000519846.1	+	3	880	c.408C>T	c.(406-408)taC>taT	p.Y136Y	RP11-787D18.1_ENST00000521801.1_RNA|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	136	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)	p.Y136*(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAGACCATTACGGCAGGAAGA	0.443																																						ENST00000519846.1		NA																	1	Substitution - Nonsense(1)	p.Y136*(1)	lung(1)	endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(406-408)taC>taT		clavesin 1																																				SO:0001819	synonymous_variant	157807				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	g.chr8:62212794C>T	AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.408C>T	8.37:g.62212794C>T		False	False		Somatic	0				RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron|CLVS1_ENST00000325897.4_Silent_p.Y136Y	p.Y136Y			WXS	Illumina HiSeq	Phase_I	Q8IUQ0	CLVS1_HUMAN			3	880	+			136			CRAL-TRIO.		B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	c.408C>T	CCDS6176.1																																																																																				0.443	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	0	NM_173519		8:62212794
DLGAP4	22839	broad.mit.edu	37	20	35060133	35060133	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr20:35060133G>A	ENST00000373907.2	+	2	212	c.13G>A	c.(13-15)Ggt>Agt	p.G5S	DLGAP4_ENST00000373913.3_Missense_Mutation_p.G5S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G5S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G5S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	5					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAAAGGCCTCGGTGACAGCCG	0.692																																						ENST00000373913.3		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(13-15)Ggt>Agt		discs, large (Drosophila) homolog-associated protein 4							16.0	18.0	17.0					20																	35060133		2145	4230	6375	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35060133G>A	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.13G>A	20.37:g.35060133G>A	ENSP00000363014:p.Gly5Ser	False	False		Somatic	0				DLGAP4_ENST00000339266.5_Missense_Mutation_p.G5S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.G5S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G5S	p.G5S			WXS	Illumina HiSeq	Phase_I	Q9Y2H0	DLGP4_HUMAN			3	493	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	5					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.13G>A		.	.	.	.	.	.	.	.	.	.	G	11.48	1.651735	0.29336	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.67	3.36	0.38483	.	0.151756	0.64402	D	0.000016	T	0.45438	0.1342	N	0.19112	0.55	0.44852	D	0.997862	D	0.89917	1.0	D	0.91635	0.999	T	0.39165	-0.9627	10	0.02654	T	1	.	11.4918	0.50385	0.0787:0.1303:0.7911:0.0	.	5	Q9Y2H0-1	.	S	5	ENSP00000363023:G5S;ENSP00000384954:G5S;ENSP00000363014:G5S;ENSP00000341633:G5S	ENSP00000341633:G5S	G	+	1	0	DLGAP4	34493547	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.453000	0.66645	1.377000	0.46286	0.561000	0.74099	GGT		0.692	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	0	NM_014902		20:35060133
TAF5L	27097	broad.mit.edu	37	1	229730411	229730411	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:229730411C>T	ENST00000366676.1	-	4	1402	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H	TAF5L_ENST00000258281.2_Missense_Mutation_p.R468H			O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	468					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.R468P(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CACGGGGCCACGGTGGCCTGT	0.607																																						ENST00000258281.2		NA																	1	Substitution - Missense(1)	p.R468P(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11						c.(1402-1404)cGt>cAt		TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa							76.0	81.0	79.0					1																	229730411		2203	4300	6503	SO:0001583	missense	27097				histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr1:229730411C>T	AF069736	CCDS1581.1, CCDS31051.1	1q42.11-q42.3	2013-01-10	2002-08-29		ENSG00000135801	ENSG00000135801		"""WD repeat domain containing"""	17304	protein-coding gene	gene with protein product	"""PCAF associated factor 65 beta"""		"""TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425, 11124703	Standard	XM_005273100		Approved	PAF65B	uc001htq.3	O75529	OTTHUMG00000039463	ENST00000366676.1:c.1403G>A	1.37:g.229730411C>T	ENSP00000355636:p.Arg468His	False	False		Somatic	0				TAF5L_ENST00000366676.1_Missense_Mutation_p.R468H	p.R468H	NM_014409.3	NP_055224.1	WXS	Illumina HiSeq	Phase_I	O75529	TAF5L_HUMAN			5	1568	-	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)	468					Q5TDI5|Q5TDI6|Q8IW31	Missense_Mutation	SNP	ENST00000366676.1	37	c.1403G>A	CCDS1581.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987862	0.35036	.	.	ENSG00000135801	ENST00000366676;ENST00000258281	T;T	0.60548	0.18;0.18	5.97	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.047962	0.85682	D	0.000000	T	0.45935	0.1367	N	0.21097	0.63	0.80722	D	1	B	0.15473	0.013	B	0.10450	0.005	T	0.37407	-0.9707	10	0.54805	T	0.06	-7.1912	15.1546	0.72730	0.0:0.9326:0.0:0.0674	.	468	O75529	TAF5L_HUMAN	H	468	ENSP00000355636:R468H;ENSP00000258281:R468H	ENSP00000258281:R468H	R	-	2	0	TAF5L	227797034	1.000000	0.71417	0.921000	0.36526	0.013000	0.08279	7.785000	0.85724	1.537000	0.49254	0.655000	0.94253	CGT		0.607	TAF5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095229.1	0	NM_014409		1:229730411
TP53	7157	broad.mit.edu	37	17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr17:7578206T>C	ENST00000269305.4	-	6	832	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000420246.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G	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	215	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		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.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)	ACCACCACACTATGTCGAAAA	0.537		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"""		43	Substitution - Missense(13)|Deletion - Frameshift(11)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(4)|Insertion - In frame(1)|Complex - deletion inframe(1)	p.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(1)	ovary(6)|biliary_tract(5)|bone(5)|stomach(4)|oesophagus(4)|breast(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|lung(2)|urinary_tract(1)|liver(1)|skin(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						c.(643-645)Agt>Ggt	Other conserved DNA damage response genes	tumor protein p53							125.0	112.0	116.0					17																	7578206		2203	4300	6503	SO:0001583	missense	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.chr17:7578206T>C	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.643A>G	17.37:g.7578206T>C	ENSP00000269305:p.Ser215Gly	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_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G	p.S215G	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)	6	775	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	215		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> K (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.643A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.274381	0.80580	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	5.28	4.18	0.49190	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90705	3.14	0.58432	D	0.999999	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;1.0;0.98;0.996;1.0;1.0;0.999	D	0.97163	0.9839	10	0.87932	D	0	-18.3023	10.6958	0.45899	0.0:0.0:0.1605:0.8394	.	176;215;215;122;215;215;215	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	215;215;215;215;215;215;204;122;83;122;83	ENSP00000410739:S215G;ENSP00000352610:S215G;ENSP00000269305:S215G;ENSP00000398846:S215G;ENSP00000391127:S215G;ENSP00000391478:S215G;ENSP00000425104:S83G;ENSP00000423862:S122G	ENSP00000269305:S215G	S	-	1	0	TP53	7518931	1.000000	0.71417	0.471000	0.27229	0.962000	0.63368	6.146000	0.71777	0.919000	0.36945	0.460000	0.39030	AGT		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578206
SSMEM1	136263	broad.mit.edu	37	7	129856144	129856144	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:129856144G>T	ENST00000297819.3	+	3	620	c.569G>T	c.(568-570)aGt>aTt	p.S190I		NM_145268.3	NP_660311.1	Q8WWF3	SSMM1_HUMAN	serine-rich single-pass membrane protein 1	190						integral component of membrane (GO:0016021)											AATCTGGGAAGTTACCAAATG	0.507																																						ENST00000297819.3		NA																	0					NA						c.(568-570)aGt>aTt		serine-rich single-pass membrane protein 1							110.0	111.0	111.0					7																	129856144		2203	4300	6503	SO:0001583	missense	136263							g.chr7:129856144G>T	AK097635	CCDS5816.1	7q32.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000165120	ENSG00000165120			29580	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 45"""	C7orf45		12477932	Standard	NM_145268		Approved	FLJ40316	uc003vpp.3	Q8WWF3	OTTHUMG00000157844	ENST00000297819.3:c.569G>T	7.37:g.129856144G>T	ENSP00000297819:p.Ser190Ile	False	False		Somatic	0					p.S190I	NM_145268.3	NP_660311.1	WXS	Illumina HiSeq	Phase_I					3	620	+			NA						Missense_Mutation	SNP	ENST00000297819.3	37	c.569G>T	CCDS5816.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.757670	0.31137	.	.	ENSG00000165120	ENST00000297819	T	0.54479	0.57	5.56	0.111	0.14619	.	0.349704	0.28332	N	0.015737	T	0.54447	0.1859	L	0.53249	1.67	0.09310	N	1	D	0.57571	0.98	P	0.54312	0.748	T	0.51301	-0.8723	10	0.72032	D	0.01	-0.2641	8.298	0.31997	0.4745:0.0:0.5255:0.0	.	190	Q8WWF3	CG045_HUMAN	I	190	ENSP00000297819:S190I	ENSP00000297819:S190I	S	+	2	0	C7orf45	129643380	0.722000	0.28017	0.010000	0.14722	0.267000	0.26476	0.500000	0.22562	-0.288000	0.09051	-0.339000	0.08088	AGT		0.507	SSMEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349768.1	0	NM_145268		7:129856144
C5AR2	27202	broad.mit.edu	37	19	47844495	47844495	+	Missense_Mutation	SNP	C	C	T	rs149871591	byFrequency	TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:47844495C>T	ENST00000595464.1	+	2	657	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	C5AR2_ENST00000600626.1_Missense_Mutation_p.R147W|C5AR2_ENST00000257267.2_Missense_Mutation_p.R147W	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	147					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										TACGGTTCAGCGGGCGTGCGG	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		14950	0.002		0.0	False		,,,				2504	0.0					ENST00000595464.1		NA																	0					NA						c.(439-441)Cgg>Tgg		complement component 5a receptor 2		C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	56.0	56.0	56.0		439	0.9	0.0	19	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GPR77	NM_018485.1	101	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	147/338	47844495	2,13004	2203	4300	6503	SO:0001583	missense	27202							g.chr19:47844495C>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.439C>T	19.37:g.47844495C>T	ENSP00000472620:p.Arg147Trp	True	False		Somatic	0				C5AR2_ENST00000600626.1_Missense_Mutation_p.R147W|C5AR2_ENST00000257267.2_Missense_Mutation_p.R147W	p.R147W	NM_001271749.1	NP_001258678.1	WXS	Illumina HiSeq	Phase_I					2	657	+			NA					B2RA09	Missense_Mutation	SNP	ENST00000595464.1	37	c.439C>T	CCDS12699.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.330253	0.41297	2.27E-4	1.16E-4	ENSG00000134830	ENST00000257267	T	0.38722	1.12	4.34	0.918	0.19386	GPCR, rhodopsin-like superfamily (1);	0.416766	0.20526	U	0.090603	T	0.39009	0.1062	M	0.81497	2.545	0.09310	N	1	B	0.31290	0.318	B	0.28553	0.091	T	0.39396	-0.9616	10	0.66056	D	0.02	.	5.4763	0.16697	0.1603:0.6547:0.0:0.1849	.	147	Q9P296	C5ARL_HUMAN	W	147	ENSP00000257267:R147W	ENSP00000257267:R147W	R	+	1	2	GPR77	52536335	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-0.363000	0.07593	0.466000	0.27193	0.462000	0.41574	CGG		0.672	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1	0	NM_018485		19:47844495
DCHS1	8642	broad.mit.edu	37	11	6662161	6662161	+	Nonsense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr11:6662161A>C	ENST00000299441.3	-	2	1095	c.684T>G	c.(682-684)taT>taG	p.Y228*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	228	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCACCATCATAGGCCTCCA	0.602																																						ENST00000299441.3		NA																	0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(682-684)taT>taG		dachsous cadherin-related 1							111.0	106.0	108.0					11																	6662161		2201	4296	6497	SO:0001587	stop_gained	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662161A>C	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.684T>G	11.37:g.6662161A>C	ENSP00000299441:p.Tyr228*	False	False		Somatic	0					p.Y228*	NM_003737.2	NP_003728.1	WXS	Illumina HiSeq	Phase_I	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1095	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	228			Cadherin 2.		O15098	Nonsense_Mutation	SNP	ENST00000299441.3	37	c.684T>G	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	A	37	6.418677	0.97550	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.18	-1.56	0.08532	.	0.000000	0.42294	D	0.000731	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.368	0.44035	0.6186:0.0:0.3814:0.0	.	.	.	.	X	228	.	ENSP00000299441:Y228X	Y	-	3	2	DCHS1	6618737	0.966000	0.33281	0.995000	0.50966	0.991000	0.79684	0.258000	0.18387	-0.379000	0.07906	0.445000	0.29226	TAT		0.602	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	0	NM_003737		11:6662161
PES1	23481	broad.mit.edu	37	22	30983324	30983324	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:30983324C>T	ENST00000354694.7	-	4	423	c.317G>A	c.(316-318)cGt>cAt	p.R106H	PES1_ENST00000402281.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.R106H|PES1_ENST00000335214.6_Missense_Mutation_p.R106H|PES1_ENST00000405677.1_5'UTR	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						GTCCTTTAAACGCTCTACAGT	0.498																																						ENST00000354694.7		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(316-318)cGt>cAt		pescadillo ribosomal biogenesis factor 1							306.0	246.0	266.0					22																	30983324		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30983324C>T	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000354694.7:c.317G>A	22.37:g.30983324C>T	ENSP00000346725:p.Arg106His	True	False		Somatic	0				PES1_ENST00000402281.1_5'UTR|PES1_ENST00000335214.6_Missense_Mutation_p.R106H|PES1_ENST00000405677.1_5'UTR|PES1_ENST00000402284.3_Missense_Mutation_p.R106H	p.R106H	NM_001243225.1|NM_014303.3	NP_001230154.1|NP_055118.1	WXS	Illumina HiSeq	Phase_I	O00541	PESC_HUMAN			4	423	-			NA			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000354694.7	37	c.317G>A	CCDS13880.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272796	0.80580	.	.	ENSG00000100029	ENST00000354694;ENST00000402284;ENST00000335214;ENST00000433575	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.51736	0.1692	M	0.75085	2.285	0.80722	D	1	B;B;B;B	0.32245	0.361;0.25;0.14;0.361	B;B;B;B	0.28232	0.041;0.087;0.024;0.041	T	0.55147	-0.8186	10	0.54805	T	0.06	-9.5911	19.2042	0.93723	0.0:1.0:0.0:0.0	.	106;106;106;106	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	H	106	ENSP00000346725:R106H;ENSP00000384252:R106H;ENSP00000334612:R106H;ENSP00000388071:R106H	ENSP00000334612:R106H	R	-	2	0	PES1	29313324	1.000000	0.71417	0.990000	0.47175	0.937000	0.57800	7.192000	0.77771	2.650000	0.89964	0.655000	0.94253	CGT		0.498	PES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321188.3	0	NM_014303		22:30983324
RRAGC	64121	broad.mit.edu	37	1	39305328	39305328	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:39305328A>C	ENST00000373001.3	-	7	1273	c.1097T>G	c.(1096-1098)gTt>gGt	p.V366G	RRAGC_ENST00000474456.1_5'UTR	NM_022157.2	NP_071440.1			Ras-related GTP binding C											endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				CACCTCAAAAACCTCATGAAT	0.458																																						ENST00000373001.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10						c.(1096-1098)gTt>gGt		Ras-related GTP binding C							125.0	113.0	117.0					1																	39305328		2203	4300	6503	SO:0001583	missense	64121				apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity	g.chr1:39305328A>C	AF323609	CCDS430.1	1p34	2008-02-05			ENSG00000116954	ENSG00000116954			19902	protein-coding gene	gene with protein product		608267				11073942	Standard	NM_022157		Approved	GTR2, FLJ13311	uc001ccq.3	Q9HB90	OTTHUMG00000000490	ENST00000373001.3:c.1097T>G	1.37:g.39305328A>C	ENSP00000362092:p.Val366Gly	True	False		Somatic	0				RRAGC_ENST00000474456.1_5'UTR	p.V366G	NM_022157.2	NP_071440.1	WXS	Illumina HiSeq	Phase_I	Q9HB90	RRAGC_HUMAN			7	1273	-	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	366						Missense_Mutation	SNP	ENST00000373001.3	37	c.1097T>G	CCDS430.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.082251	0.76528	.	.	ENSG00000116954	ENST00000373001	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.85013	0.5600	M	0.90309	3.105	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76071	0.987;0.944;0.979	D	0.87774	0.2607	9	0.62326	D	0.03	-33.3787	16.2355	0.82371	1.0:0.0:0.0:0.0	.	332;300;366	E7ENI3;D3DPT8;Q9HB90	.;.;RRAGC_HUMAN	G	366	.	ENSP00000362092:V366G	V	-	2	0	RRAGC	39077915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.238000	0.73509	0.533000	0.62120	GTT		0.458	RRAGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001222.2	0	NM_022157		1:39305328
MBOAT7	79143	broad.mit.edu	37	19	54691118	54691118	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:54691118G>A	ENST00000245615.1	-	4	738	c.258C>T	c.(256-258)ttC>ttT	p.F86F	MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000391754.1_Silent_p.F86F|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7	86					glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGGGCTCGGAAGAACAGGA	0.642																																					NSCLC(97;826 2151 10470 22540)	ENST00000245615.1		NA																	0				endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10						c.(256-258)ttC>ttT		membrane bound O-acyltransferase domain containing 7							57.0	60.0	59.0					19																	54691118		2195	4298	6493	SO:0001819	synonymous_variant	79143				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr19:54691118G>A	AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.258C>T	19.37:g.54691118G>A		False	False		Somatic	0				MBOAT7_ENST00000474910.1_5'UTR|MBOAT7_ENST00000431666.2_Intron|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000391754.1_Silent_p.F86F	p.F86F	NM_024298.3	NP_077274.3	WXS	Illumina HiSeq	Phase_I	Q96N66	MBOA7_HUMAN			4	738	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		86					A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	Silent	SNP	ENST00000245615.1	37	c.258C>T	CCDS12883.1																																																																																				0.642	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142203.1	0	NM_024298		19:54691118
GLI3	2737	broad.mit.edu	37	7	42004927	42004927	+	Silent	SNP	G	G	A			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr7:42004927G>A	ENST00000395925.3	-	15	3828	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1248					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GGGCCTTACAGGGCTGTTCAT	0.617									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													ENST00000395925.3		NA																	0				NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						c.(3742-3744)ccC>ccT		GLI family zinc finger 3							73.0	77.0	75.0					7																	42004927		2203	4300	6503	SO:0001819	synonymous_variant	2737	Pallister-Hall syndrome;Greig Cephalopolysyndactyly	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004927G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3744C>T	7.37:g.42004927G>A		True	False		Somatic	0				GLI3_ENST00000479210.1_5'UTR	p.P1248P	NM_000168.5	NP_000159.3	WXS	Illumina HiSeq	Phase_I	P10071	GLI3_HUMAN			15	3828	-			1248					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.3744C>T	CCDS5465.1																																																																																				0.617	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	0	NM_000168		7:42004927
FLG	2312	broad.mit.edu	37	1	152277769	152277769	+	Missense_Mutation	SNP	A	A	C	rs143183339		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:152277769A>C	ENST00000368799.1	-	3	9628	c.9593T>G	c.(9592-9594)gTc>gGc	p.V3198G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3198	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCCTGGACTGCCTGTGA	0.552									Ichthyosis																													ENST00000368799.1		NA																	0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(9592-9594)gTc>gGc		filaggrin		C	GLY/VAL	2,4404	823.4+/-416.5	0,2,2201	124.0	147.0	139.0		9593	-1.8	0.0	1	dbSNP_134	139	0,8592		0,0,4296	no	missense	FLG	NM_002016.1	109	0,2,6497	CC,CA,AA		0.0,0.0454,0.0154	benign	3198/4062	152277769	2,12996	2203	4296	6499	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277769A>C	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9593T>G	1.37:g.152277769A>C	ENSP00000357789:p.Val3198Gly	False	False		Somatic	0				FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.V3198G	NM_002016.1	NP_002007.1	WXS	Illumina HiSeq	Phase_I	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	9628	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3198			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.9593T>G	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	1.935	-0.444964	0.04604	4.54E-4	0.0	ENSG00000143631	ENST00000368799	T	0.01963	4.53	1.93	-1.78	0.07957	.	.	.	.	.	T	0.00144	0.0004	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32402	-0.9908	9	0.10636	T	0.68	.	0.4443	0.00491	0.198:0.336:0.196:0.27	.	3198	P20930	FILA_HUMAN	G	3198	ENSP00000357789:V3198G	ENSP00000357789:V3198G	V	-	2	0	FLG	150544393	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.291000	0.08343	-0.950000	0.03659	-0.383000	0.06682	GTC		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	0	NM_002016		1:152277769
FOXJ2	55810	broad.mit.edu	37	12	8205432	8205432	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr12:8205432G>C	ENST00000162391.3	+	11	2856	c.1711G>C	c.(1711-1713)Gac>Cac	p.D571H	FOXJ2_ENST00000539192.1_3'UTR	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	571					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		CTTCGACTGGGACTTGATCAC	0.552																																						ENST00000162391.3		NA																	0				autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16						c.(1711-1713)Gac>Cac		forkhead box J2							82.0	60.0	67.0					12																	8205432		2203	4300	6503	SO:0001583	missense	55810				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr12:8205432G>C	AF155132	CCDS8587.1	12p13.31	2006-12-15				ENSG00000065970		"""Forkhead boxes"""	24818	protein-coding gene	gene with protein product						10777590, 10966786	Standard	NM_018416		Approved	FHX	uc001qtu.3	Q9P0K8		ENST00000162391.3:c.1711G>C	12.37:g.8205432G>C	ENSP00000162391:p.Asp571His	True	False		Somatic	0				FOXJ2_ENST00000539192.1_3'UTR	p.D571H	NM_018416.2	NP_060886.1	WXS	Illumina HiSeq	Phase_I	Q9P0K8	FOXJ2_HUMAN		Kidney(36;0.0944)	11	2856	+			571					A0AVK4|B2RMP3|Q96PS9|Q9NSN5	Missense_Mutation	SNP	ENST00000162391.3	37	c.1711G>C	CCDS8587.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.637902	0.87760	.	.	ENSG00000065970	ENST00000162391	D	0.99311	-5.73	5.85	5.85	0.93711	.	0.244803	0.28724	N	0.014344	D	0.99254	0.9740	M	0.63843	1.955	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.99819	1.1046	10	0.87932	D	0	.	17.6544	0.88174	0.0:0.0:1.0:0.0	.	571	Q9P0K8	FOXJ2_HUMAN	H	571	ENSP00000162391:D571H	ENSP00000162391:D571H	D	+	1	0	FOXJ2	8096699	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.918000	0.75788	2.772000	0.95346	0.650000	0.86243	GAC		0.552	FOXJ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400088.1	0	NM_018416		12:8205432
TFB2M	64216	broad.mit.edu	37	1	246704361	246704361	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:246704361A>T	ENST00000366514.4	-	8	1348	c.1163T>A	c.(1162-1164)cTg>cAg	p.L388Q		NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	388					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)	poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			TTCATCATACAGCCATTTATA	0.373																																						ENST00000366514.4		NA																	0				breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28						c.(1162-1164)cTg>cAg		transcription factor B2, mitochondrial							133.0	119.0	124.0					1																	246704361		2203	4300	6503	SO:0001583	missense	64216				positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity	g.chr1:246704361A>T	AK026835	CCDS1627.1	1q44	2008-02-05			ENSG00000162851	ENSG00000162851			18559	protein-coding gene	gene with protein product		607055					Standard	NM_022366		Approved	FLJ23182, FLJ22661, Hkp1	uc001ibn.3	Q9H5Q4	OTTHUMG00000040091	ENST00000366514.4:c.1163T>A	1.37:g.246704361A>T	ENSP00000355471:p.Leu388Gln	False	False		Somatic	0					p.L388Q	NM_022366.2	NP_071761.1	WXS	Illumina HiSeq	Phase_I	Q9H5Q4	TFB2M_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00358)		8	1348	-	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		388					Q9H626	Missense_Mutation	SNP	ENST00000366514.4	37	c.1163T>A	CCDS1627.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.567021	0.45694	.	.	ENSG00000162851	ENST00000366514	T	0.40476	1.03	5.23	5.23	0.72850	.	0.173798	0.38837	N	0.001547	T	0.56411	0.1983	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.63597	0.916	T	0.59883	-0.7370	10	0.87932	D	0	-0.8824	12.7768	0.57453	1.0:0.0:0.0:0.0	.	388	Q9H5Q4	TFB2M_HUMAN	Q	388	ENSP00000355471:L388Q	ENSP00000355471:L388Q	L	-	2	0	TFB2M	244770984	0.993000	0.37304	0.292000	0.24919	0.018000	0.09664	4.722000	0.61958	2.108000	0.64289	0.528000	0.53228	CTG		0.373	TFB2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096673.1	0	NM_022366		1:246704361
UNC13A	23025	broad.mit.edu	37	19	17760372	17760372	+	Silent	SNP	G	G	A	rs551065041		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr19:17760372G>A	ENST00000519716.2	-	13	1463	c.1464C>T	c.(1462-1464)atC>atT	p.I488I	UNC13A_ENST00000550896.1_Silent_p.I488I|UNC13A_ENST00000552293.1_Silent_p.I488I|UNC13A_ENST00000252773.7_Silent_p.I488I|UNC13A_ENST00000428389.2_Silent_p.I576I|UNC13A_ENST00000551649.1_Silent_p.I488I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	488					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)	p.I488I(1)|p.I576I(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCATGCTGTCGATGATGATGA	0.567																																						ENST00000428389.2		NA																	2	Substitution - coding silent(2)	p.I488I(1)|p.I576I(1)	kidney(2)	breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						c.(1726-1728)atC>atT		unc-13 homolog A (C. elegans)							147.0	152.0	150.0					19																	17760372		2107	4228	6335	SO:0001819	synonymous_variant	23025				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr19:17760372G>A	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1464C>T	19.37:g.17760372G>A		True	False		Somatic	0				UNC13A_ENST00000550896.1_Silent_p.I488I|UNC13A_ENST00000551649.1_Silent_p.I488I|UNC13A_ENST00000519716.2_Silent_p.I488I|UNC13A_ENST00000252773.7_Silent_p.I488I|UNC13A_ENST00000552293.1_Silent_p.I488I	p.I576I			WXS	Illumina HiSeq	Phase_I	Q9UPW8	UN13A_HUMAN			14	1727	-			488					E5RHY9	Silent	SNP	ENST00000519716.2	37	c.1728C>T	CCDS46013.2																																																																																				0.567	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	0	XM_038604		19:17760372
FAM179B	23116	broad.mit.edu	37	14	45473306	45473306	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:45473306T>C	ENST00000361577.3	+	4	2595	c.2381T>C	c.(2380-2382)tTt>tCt	p.F794S	FAM179B_ENST00000382233.2_Missense_Mutation_p.F794S|FAM179B_ENST00000361462.2_Missense_Mutation_p.F794S|KLHL28_ENST00000553817.1_Intron	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	794										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CAGCAAACATTTGGTAGTCAA	0.363																																						ENST00000361462.2		NA																	0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(2380-2382)tTt>tCt		family with sequence similarity 179, member B							89.0	77.0	81.0					14																	45473306		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45473306T>C	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2381T>C	14.37:g.45473306T>C	ENSP00000355045:p.Phe794Ser	True	False		Somatic	0				FAM179B_ENST00000382233.2_Missense_Mutation_p.F794S|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361577.3_Missense_Mutation_p.F794S	p.F794S			WXS	Illumina HiSeq	Phase_I	Q9Y4F4	F179B_HUMAN			4	2564	+			794					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.2381T>C	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	T	19.28	3.798217	0.70567	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.13538	2.58;2.58;4.05;4.05	5.56	4.4	0.53042	Armadillo-type fold (1);	0.352636	0.27253	N	0.020216	T	0.17916	0.0430	N	0.24115	0.695	0.27467	N	0.952969	P;D;D	0.62365	0.567;0.974;0.991	B;P;P	0.56563	0.175;0.57;0.801	T	0.02901	-1.1096	10	0.87932	D	0	-10.7199	11.2492	0.49015	0.0:0.0:0.1532:0.8468	.	794;794;794	G3XAE9;Q9Y4F4;Q9Y4F4-2	.;F179B_HUMAN;.	S	794;794;794;794;113	ENSP00000355045:F794S;ENSP00000354917:F794S;ENSP00000371668:F794S;ENSP00000451141:F113S	ENSP00000354917:F794S	F	+	2	0	FAM179B	44543056	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.528000	0.53524	0.916000	0.36871	0.460000	0.39030	TTT		0.363	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	0	XM_113781		14:45473306
VAC14	55697	broad.mit.edu	37	16	70726807	70726807	+	Silent	SNP	G	G	A	rs371620220		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr16:70726807G>A	ENST00000261776.5	-	18	2363	c.2103C>T	c.(2101-2103)ctC>ctT	p.L701L	VAC14_ENST00000571759.1_5'Flank|VAC14_ENST00000536184.2_Silent_p.L133L	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	701					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of lipid kinase activity (GO:0043550)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|PAS complex (GO:0070772)	receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				GCAGGAGCATGAGCAGGCCGT	0.662																																						ENST00000261776.5		NA																	0				breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(2101-2103)ctC>ctT		Vac14 homolog (S. cerevisiae)		G		0,4394		0,0,2197	50.0	50.0	50.0		2103	4.3	1.0	16		50	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	VAC14	NM_018052.3		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		701/783	70726807	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	55697				interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	g.chr16:70726807G>A	AK056433	CCDS10896.1	16q22.1	2010-03-23	2005-02-09		ENSG00000103043	ENSG00000103043			25507	protein-coding gene	gene with protein product		604632	"""Tax1 (human T-cell leukemia virus type I) binding protein 2"""	TAX1BP2		15542851, 12719380	Standard	NM_018052		Approved	FLJ10305, ArPIKfyve	uc002ezm.3	Q08AM6	OTTHUMG00000137583	ENST00000261776.5:c.2103C>T	16.37:g.70726807G>A		False	False		Somatic	0				VAC14_ENST00000536184.2_Silent_p.L133L	p.L701L	NM_018052.3	NP_060522.3	WXS	Illumina HiSeq	Phase_I	Q08AM6	VAC14_HUMAN			18	2363	-		Ovarian(137;0.0699)	701					B3KPJ5|B3KSM8|Q13174|Q6IA12|Q7L4Y1|Q9BW96|Q9H6V6	Silent	SNP	ENST00000261776.5	37	c.2103C>T	CCDS10896.1																																																																																				0.662	VAC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268973.3	0	NM_018052		16:70726807
ZYG11B	79699	broad.mit.edu	37	1	53287249	53287249	+	Missense_Mutation	SNP	G	G	A	rs151077871		TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr1:53287249G>A	ENST00000294353.6	+	14	2328	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H	ZYG11B_ENST00000443756.2_Missense_Mutation_p.R658H	NM_024646.2	NP_078922.1	Q9C0D3	ZY11B_HUMAN	zyg-11 family member B, cell cycle regulator	728										breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						CACATTGTGCGCCATGGGAGG	0.418																																						ENST00000294353.6		NA																	0				breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						c.(2182-2184)cGc>cAc		zyg-11 family member B, cell cycle regulator		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	86.0	80.0	82.0		2183	5.5	1.0	1	dbSNP_134	82	0,8600		0,0,4300	no	missense	ZYG11B	NM_024646.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	728/745	53287249	1,13005	2203	4300	6503	SO:0001583	missense	79699						protein binding	g.chr1:53287249G>A	AB051517	CCDS30717.1	1p32.3	2013-01-17	2012-12-10	2005-07-11	ENSG00000162378	ENSG00000162378		"""ZYG11 cell cycle regulator family"""	25820	protein-coding gene	gene with protein product			"""zyg-11 homolog (C. elegans)"", ""zyg-11 homolog B (C. elegans)"""	ZYG11		11214970	Standard	NM_024646		Approved	FLJ13456	uc001cuj.3	Q9C0D3	OTTHUMG00000008938	ENST00000294353.6:c.2183G>A	1.37:g.53287249G>A	ENSP00000294353:p.Arg728His	False	False		Somatic	0				ZYG11B_ENST00000443756.2_Missense_Mutation_p.R658H	p.R728H	NM_024646.2	NP_078922.1	WXS	Illumina HiSeq	Phase_I	Q9C0D3	ZY11B_HUMAN			14	2328	+			728					Q8N2X3|Q9H8L8	Missense_Mutation	SNP	ENST00000294353.6	37	c.2183G>A	CCDS30717.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579177	0.65878	2.27E-4	0.0	ENSG00000162378	ENST00000443756;ENST00000294353	T	0.47177	0.85	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.37046	0.0989	L	0.51422	1.61	0.80722	D	1	P;B	0.39601	0.68;0.07	B;B	0.26094	0.066;0.019	T	0.35525	-0.9785	10	0.48119	T	0.1	.	12.6624	0.56822	0.0756:0.0:0.9244:0.0	.	658;728	B4DK95;Q9C0D3	.;ZY11B_HUMAN	H	658;728	ENSP00000294353:R728H	ENSP00000294353:R728H	R	+	2	0	ZYG11B	53059837	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	5.446000	0.66600	2.567000	0.86603	0.591000	0.81541	CGC		0.418	ZYG11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024749.1	0	NM_024646		1:53287249
POM121L9P	29774	broad.mit.edu	37	22	24659805	24659805	+	RNA	SNP	C	C	G			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr22:24659805C>G	ENST00000414583.2	+	0	3330					NR_003714.1				POM121 transmembrane nucleoporin-like 9, pseudogene																		TGCTCCCTATCTGCGCACCCG	0.607																																						ENST00000414583.2		NA																	0					NA																																														0							g.chr22:24659805C>G	AL040062, AL117401		22q11.22	2012-03-13	2012-03-13		ENSG00000128262	ENSG00000128262			30080	pseudogene	pseudogene			"""POM121 membrane glycoprotein-like 9, pseudogene"""				Standard	NR_003714		Approved				OTTHUMG00000150763		22.37:g.24659805C>G		False	False		Somatic	0						NR_003714.1		WXS	Illumina HiSeq	Phase_I					0	3330	+			NA						RNA	SNP	ENST00000414583.2	37																																																																																						0.607	POM121L9P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000319991.1	0	NM_014549		22:24659805
LRCH3	84859	broad.mit.edu	37	3	197553808	197553808	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr3:197553808C>T	ENST00000425562.2	+	5	700	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LRCH3_ENST00000414675.2_Missense_Mutation_p.P234S|LRCH3_ENST00000334859.4_Missense_Mutation_p.P234S|LRCH3_ENST00000441090.2_Missense_Mutation_p.P108S|LRCH3_ENST00000438796.2_Missense_Mutation_p.P234S|LRCH3_ENST00000536618.1_5'Flank			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	234						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		TACCACAATCCCTGTTTGTTA	0.423																																						ENST00000438796.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(700-702)Cct>Tct		leucine-rich repeats and calponin homology (CH) domain containing 3							156.0	140.0	145.0					3																	197553808		2203	4300	6503	SO:0001583	missense	84859					extracellular region		g.chr3:197553808C>T	AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.700C>T	3.37:g.197553808C>T	ENSP00000393579:p.Pro234Ser	True	False		Somatic	0				LRCH3_ENST00000425562.2_Missense_Mutation_p.P234S|LRCH3_ENST00000441090.2_Missense_Mutation_p.P108S|LRCH3_ENST00000334859.4_Missense_Mutation_p.P234S|LRCH3_ENST00000414675.2_Missense_Mutation_p.P234S	p.P234S			WXS	Illumina HiSeq	Phase_I	Q96II8	LRCH3_HUMAN	Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)	5	744	+	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		234					B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37	c.700C>T		.	.	.	.	.	.	.	.	.	.	C	33	5.261561	0.95368	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.59502	1.85;0.26;1.85;1.85;1.85	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.78773	0.4336	M	0.81614	2.55	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.997	D;D;D;D	0.97110	1.0;1.0;1.0;0.966	T	0.81291	-0.0999	10	0.87932	D	0	-15.0214	19.3993	0.94621	0.0:1.0:0.0:0.0	.	108;234;234;234	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	S	234;108;234;234;234	ENSP00000399751:P234S;ENSP00000394609:P108S;ENSP00000394965:P234S;ENSP00000334375:P234S;ENSP00000393579:P234S	ENSP00000334375:P234S	P	+	1	0	LRCH3	199038205	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.421000	0.80204	2.654000	0.90174	0.650000	0.86243	CCT		0.423	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	0	NM_032773		3:197553808
POTEG	404785	broad.mit.edu	37	14	19553582	19553582	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7887-01A-11D-2154-08	TCGA-IB-7887-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	35c4c115-e867-4ae4-987f-9ff02003be62	73139364-4a90-4b65-82fb-efa77a95b3fa	g.chr14:19553582A>T	ENST00000409832.3	+	1	218	c.166A>T	c.(166-168)Aca>Tca	p.T56S		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	56										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTATGAAGACACTCAGGAG	0.617																																						ENST00000409832.3		NA																	0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(166-168)Aca>Tca		POTE ankyrin domain family, member G							109.0	151.0	137.0					14																	19553582		2198	4286	6484	SO:0001583	missense	404785							g.chr14:19553582A>T		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.166A>T	14.37:g.19553582A>T	ENSP00000386971:p.Thr56Ser	False	False		Somatic	0					p.T56S	NM_001005356.2	NP_001005356.1	WXS	Illumina HiSeq	Phase_I	Q6S5H5	POTEG_HUMAN			1	218	+			56					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.166A>T	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	a	10.49	1.364135	0.24684	.	.	ENSG00000222036	ENST00000409832	T	0.29397	1.57	.	.	.	.	.	.	.	.	T	0.23727	0.0574	L	0.43152	1.355	0.09310	N	1	P	0.35745	0.518	B	0.36418	0.224	T	0.17745	-1.0359	7	0.56958	D	0.05	.	.	.	.	.	56	Q6S5H5	POTEG_HUMAN	S	56	ENSP00000386971:T56S	ENSP00000386971:T56S	T	+	1	0	POTEG	18623582	0.003000	0.15002	0.006000	0.13384	0.006000	0.05464	0.468000	0.22051	0.141000	0.18875	0.139000	0.15985	ACA		0.617	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	0	NM_001005356		14:19553582
