#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
CEP104	9731	broad.mit.edu	37	1	3742991	3742992	+	In_Frame_Ins	INS	-	-	TGTTTATTGTAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:3742991_3742992insTGTTTATTGTAA	ENST00000378230.3	-	17	2521_2522	c.2197_2198insTTACAATAAACA	c.(2197-2199)gga>gTTACAATAAACAga	p.733_733G>VTINR		NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	733						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TGCTTTCCCTCCTTGAATGTCT	0.386																																						ENST00000378230.3		NA																	0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(2197-2199)gga>gTTACAATAAACAga		centrosomal protein 104kDa																																				SO:0001652	inframe_insertion	9731					centriole	binding	g.chr1:3742991_3742992insTGTTTATTGTAA	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.2197_2198insTTACAATAAACA	1.37:g.3742991_3742992insTGTTTATTGTAA	ENSP00000367476:p.Gly733delinsValThrIleAsnArg	False	False		Somatic	0					p.733_733G>VTINR	NM_014704.3	NP_055519.1	WXS	Illumina HiSeq	Phase_I	O60308	CE104_HUMAN			17	2521_2522	-			733					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	In_Frame_Ins	INS	ENST00000378230.3	37	c.2197_2198insTTACAATAAACA	CCDS30571.1																																																																																				0.386	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	0	NM_014704		1:3742991
HK1	3098	broad.mit.edu	37	10	71144193	71144194	+	Frame_Shift_Ins	INS	-	-	CTCCAGAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:71144193_71144194insCTCCAGAC	ENST00000359426.6	+	11	1779_1780	c.1675_1676insCTCCAGAC	c.(1675-1677)atcfs	p.I559fs	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000360289.2_Frame_Shift_Ins_p.I547fs|HK1_ENST00000404387.2_Frame_Shift_Ins_p.I563fs|HK1_ENST00000298649.3_Frame_Shift_Ins_p.I558fs|HK1_ENST00000448642.2_Frame_Shift_Ins_p.I594fs	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	559	Catalytic.|Hexokinase type-1 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GCACAACAAGATCTACGCCATT	0.505																																						ENST00000359426.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(1675-1677)atcfs		hexokinase 1																																				SO:0001589	frameshift_variant	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71144193_71144194insCTCCAGAC	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	Exception_encountered	10.37:g.71144193_71144194insCTCCAGAC	ENSP00000352398:p.Ile559fs	False	False		Somatic	0				HK1_ENST00000298649.3_Frame_Shift_Ins_p.I558fs|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Frame_Shift_Ins_p.I594fs|HK1_ENST00000360289.2_Frame_Shift_Ins_p.I547fs|HK1_ENST00000404387.2_Frame_Shift_Ins_p.I563fs	p.I559fs	NM_000188.2	NP_000179.2	WXS	Illumina HiSeq	Phase_I	P19367	HXK1_HUMAN			11	1779_1780	+			559			Catalytic.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Frame_Shift_Ins	INS	ENST00000359426.6	37	c.1675_1676insCTCCAGAC	CCDS7292.1																																																																																				0.505	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	0	NM_000188		10:71144193
KCNMA1	3778	broad.mit.edu	37	10	78647070	78647071	+	Frame_Shift_Ins	INS	-	-	CTTTTTTTTTACACATATTTGCATA	rs199766376		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:78647070_78647071insCTTTTTTTTTACACATATTTGCATA	ENST00000286628.8	-	28	3663_3664	c.3664_3665insTATGCAAATATGTGTAAAAAAAAAG	c.(3664-3666)aggfs	p.-1221fs	KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.-1190fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.-1221fs|RP11-443A13.5_ENST00000609102.1_RNA|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.-1225fs|RP11-443A13.5_ENST00000429850.2_RNA|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.-1224fs|KCNMA1_ENST00000286627.5_Frame_Shift_Ins_p.-1163fs|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.-1163fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.-1204fs	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1						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)	p.R1164M(2)|p.R1226M(2)		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)	CCGGGACTCCCTGGACTTGGGC	0.554																																						ENST00000286627.5		NA																	4	Substitution - Missense(4)	p.R1164M(2)|p.R1226M(2)	prostate(2)|lung(2)	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.(3490-3492)aggfs		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:0001589	frameshift_variant	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.chr10:78647070_78647071insCTTTTTTTTTACACATATTTGCATA	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.3664_3665insTATGCAAATATGTGTAAAAAAAAAG	10.37:g.78647070_78647071insCTTTTTTTTTACACATATTTGCATA	ENSP00000286628:p.Ser1221fs	True	False		Somatic	0				KCNMA1_ENST00000354353.5_Frame_Shift_Ins_p.-1224fs|KCNMA1_ENST00000372440.1_Frame_Shift_Ins_p.-1163fs|KCNMA1_ENST00000406533.3_Frame_Shift_Ins_p.-1225fs|KCNMA1_ENST00000404771.3_Frame_Shift_Ins_p.-1221fs|KCNMA1_ENST00000404857.1_Frame_Shift_Ins_p.-1204fs|KCNMA1_ENST00000286628.8_Frame_Shift_Ins_p.-1221fs|KCNMA1_ENST00000372443.1_Frame_Shift_Ins_p.-1190fs	p.-1163fs	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	4442_4443	-	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		NA					F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Frame_Shift_Ins	INS	ENST00000286628.8	37	c.3490_3491insTATGCAAATATGTGTAAAAAAAAAG																																																																																					0.554	KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	0	NM_002247		10:78647070
PDCD4	27250	broad.mit.edu	37	10	112647589	112647590	+	Frame_Shift_Ins	INS	-	-	AAACATTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:112647589_112647590insAAACATTT	ENST00000280154.7	+	6	996_997	c.722_723insAAACATTT	c.(721-726)gataaafs	p.DK241fs	PDCD4_ENST00000393104.2_Frame_Shift_Ins_p.DK230fs|PDCD4_ENST00000481353.1_3'UTR	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	241	MI 1. {ECO:0000255|PROSITE- ProRule:PRU00698}.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|negative regulation of cell cycle (GO:0045786)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAATCATTTGATAAATTGTTGA	0.396																																					Ovarian(115;1498 1603 9363 40056 40885)	ENST00000280154.7		NA																	0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13						c.(721-726)gataaafs		programmed cell death 4 (neoplastic transformation inhibitor)																																				SO:0001589	frameshift_variant	27250				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding	g.chr10:112647589_112647590insAAACATTT	U83908	CCDS7567.1, CCDS44478.1	10q24	2008-08-01			ENSG00000150593	ENSG00000150593			8763	protein-coding gene	gene with protein product	"""nuclear antigen H731"""	608610				9759869	Standard	NM_014456		Approved	H731	uc001kzh.3	Q53EL6	OTTHUMG00000019048	Exception_encountered	10.37:g.112647589_112647590insAAACATTT	ENSP00000280154:p.Asp241fs	True	False		Somatic	0				PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000393104.2_Frame_Shift_Ins_p.DK230fs	p.DK241fs	NM_001199492.1|NM_014456.4	NP_001186421.1|NP_055271.2	WXS	Illumina HiSeq	Phase_I	Q53EL6	PDCD4_HUMAN		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)	6	996_997	+		Breast(234;0.0848)|Lung NSC(174;0.238)	241			MI 1.		B2RCV4|B5ME91|O15501|Q5VZS6|Q6PJI5|Q8TAR5|Q99834	Frame_Shift_Ins	INS	ENST00000280154.7	37	c.722_723insAAACATTT	CCDS7567.1																																																																																				0.396	PDCD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050361.1	0	NM_014456		10:112647589
AMPD1	270	broad.mit.edu	37	1	115216703	115216704	+	Splice_Site	INS	-	-	GTTGTTTCC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:115216703_115216704insGTTGTTTCC	ENST00000520113.2	-	14	1915	c.1900_1900insGGAAACAAC	c.(1900-1902)agt>GGAAACAACagt	p.633_634insGNN	AMPD1_ENST00000369538.3_Splice_Site_p.629_630insGNN|AMPD1_ENST00000353928.6_Splice_Site_p.600_601insGNN			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	633					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AGCACGGGACTCTGAAAAAGAA	0.351																																						ENST00000369538.3		NA																	0				NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45						c.(1888-1890)agt>GGAAACAACagt		adenosine monophosphate deaminase 1	Adenosine monophosphate(DB00131)																																			SO:0001630	splice_region_variant	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115216703_115216704insGTTGTTTCC	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1900-1->GGAAACAAC	1.37:g.115216703_115216704insGTTGTTTCC		False	False		Somatic	0				AMPD1_ENST00000353928.6_Splice_Site_p.600_601insGNN|AMPD1_ENST00000520113.2_Splice_Site_p.633_634insGNN	p.629_630insGNN	NM_001172626.1	NP_001166097.1	WXS	Illumina HiSeq	Phase_I	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	13	1935	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	600					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Splice_Site	INS	ENST00000520113.2	37	c.1888_1888insGGAAACAAC	CCDS876.2																																																																																				0.351	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4	0		In_Frame_Ins	1:115216703
FAT3	120114	broad.mit.edu	37	11	92086172	92086173	+	Frame_Shift_Ins	INS	-	-	ATACCTATTCTTTTCATCA	rs367741385		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	ENST00000298047.6	+	1	911_912	c.894_895insATACCTATTCTTTTCATCA	c.(895-897)gaafs	p.E299fs	FAT3_ENST00000525166.1_Frame_Shift_Ins_p.E149fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	299	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATGGAGAGATCGAATCTGTTTC	0.436										TCGA Ovarian(4;0.039)																												ENST00000525166.1		NA																	0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(445-447)gaafs		FAT atypical cadherin 3																																				SO:0001589	frameshift_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92086172_92086173insATACCTATTCTTTTCATCA	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	Exception_encountered	11.37:g.92086172_92086173insATACCTATTCTTTTCATCA	ENSP00000298047:p.Glu299fs	False	False	TCGA Ovarian(4;0.039)	Somatic	0				FAT3_ENST00000298047.6_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000409404.2_Frame_Shift_Ins_p.E299fs|FAT3_ENST00000541502.1_Frame_Shift_Ins_p.E299fs	p.E149fs			WXS	Illumina HiSeq	Phase_I	Q8TDW7	FAT3_HUMAN			1	466_467	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	299			Cadherin 1.		B5MDB0|Q96AU6	Frame_Shift_Ins	INS	ENST00000298047.6	37	c.444_445insATACCTATTCTTTTCATCA																																																																																					0.436	FAT3-201	KNOWN	basic	protein_coding	protein_coding		0	NM_001008781		11:92086172
MRE11A	4361	broad.mit.edu	37	11	94192656	94192657	+	Frame_Shift_Ins	INS	-	-	TTTAACCTCTCTG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:94192656_94192657insTTTAACCTCTCTG	ENST00000323929.3	-	13	1639_1640	c.1417_1418insCAGAGAGGTTAAA	c.(1417-1419)ttafs	p.L473fs	MRE11A_ENST00000407439.3_Frame_Shift_Ins_p.L476fs|MRE11A_ENST00000323977.3_Frame_Shift_Ins_p.L473fs|MRE11A_ENST00000393241.4_Frame_Shift_Ins_p.L473fs	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	473					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GTATTTCACTAATTCCTCAATG	0.401								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													ENST00000323929.3		NA																	0				breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29						c.(1417-1419)ttafs	Homologous recombination	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)																																				SO:0001589	frameshift_variant	4361	Ataxia-Telangiectasia-Like Disorder	Familial Cancer Database	ATLD	DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr11:94192656_94192657insTTTAACCTCTCTG	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1417_1418insCAGAGAGGTTAAA	11.37:g.94192656_94192657insTTTAACCTCTCTG	ENSP00000325863:p.Leu473fs	False	False		Somatic	0				MRE11A_ENST00000407439.3_Frame_Shift_Ins_p.L476fs|MRE11A_ENST00000323977.3_Frame_Shift_Ins_p.L473fs|MRE11A_ENST00000393241.4_Frame_Shift_Ins_p.L473fs	p.L473fs	NM_005591.3	NP_005582.1	WXS	Illumina HiSeq	Phase_I	P49959	MRE11_HUMAN			13	1639_1640	-		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)	473					O43475	Frame_Shift_Ins	INS	ENST00000323929.3	37	c.1417_1418insCAGAGAGGTTAAA	CCDS8299.1																																																																																				0.401	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396237.3	0	NM_005591		11:94192656
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
SLC38A1	81539	broad.mit.edu	37	12	46591599	46591600	+	Splice_Site	INS	-	-	TTTCTGATTAGTTTTCCATTTAAATTTA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:46591599_46591600insTTTCTGATTAGTTTTCCATTTAAATTTA	ENST00000398637.5	-	16	1959_1960	c.1265_1266insTAAATTTAAATGGAAAACTAATCAGAAA	c.(1264-1266)gga>ggTAAATTTAAATGGAAAACTAATCAGAAAa	p.-422fs	SLC38A1_ENST00000552197.1_Splice_Site_p.-422fs|SLC38A1_ENST00000546893.1_Splice_Site_p.-422fs|SLC38A1_ENST00000549049.1_Splice_Site_p.-422fs|SLC38A1_ENST00000549633.1_5'Flank|SLC38A1_ENST00000439706.1_Splice_Site_p.-422fs	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1						amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|neutral amino acid transport (GO:0015804)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neutral amino acid transmembrane transporter activity (GO:0015175)|sodium:amino acid symporter activity (GO:0005283)			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CAGATGTAACTCCTGTAAAATA	0.342																																						ENST00000552197.1		NA																	0				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23						c.(1264-1266)gga>ggTAAATTTAAATGGAAAACTAATCAGAAAa		solute carrier family 38, member 1																																				SO:0001630	splice_region_variant	81539				cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	g.chr12:46591599_46591600insTTTCTGATTAGTTTTCCATTTAAATTTA	AF271070	CCDS41774.1, CCDS61106.1	12q13.11	2013-05-22				ENSG00000111371		"""Solute carriers"""	13447	protein-coding gene	gene with protein product		608490				10891391	Standard	NM_030674		Approved	ATA1, NAT2, SAT1	uc001rpc.3	Q9H2H9		ENST00000398637.5:c.1265-1->TAAATTTAAATGGAAAACTAATCAGAAA	12.37:g.46591599_46591600insTTTCTGATTAGTTTTCCATTTAAATTTA		False	False		Somatic	0				SLC38A1_ENST00000439706.1_Splice_Site_p.-422fs|SLC38A1_ENST00000549049.1_Splice_Site_p.-422fs|SLC38A1_ENST00000546893.1_Splice_Site_p.-422fs|SLC38A1_ENST00000398637.5_Splice_Site_p.-422fs	p.-422fs	NM_001278390.1	NP_001265319.1	WXS	Illumina HiSeq	Phase_I	Q9H2H9	S38A1_HUMAN	all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)		16	1949_1950	-	Lung SC(27;0.137)|Renal(347;0.236)		NA					Q8NC61|Q8NCF8|Q96JX2|Q9H2Q2	Splice_Site	INS	ENST00000398637.5	37	c.1265_1266insTAAATTTAAATGGAAAACTAATCAGAAA	CCDS41774.1																																																																																				0.342	SLC38A1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404218.2	0		Frame_Shift_Ins	12:46591599
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
OSBPL8	114882	broad.mit.edu	37	12	76783492	76783493	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:76783492_76783493insC	ENST00000261183.3	-	12	1763_1764	c.1284_1285insG	c.(1282-1287)tttattfs	p.I429fs	OSBPL8_ENST00000393249.2_Frame_Shift_Ins_p.I387fs|OSBPL8_ENST00000393250.4_Frame_Shift_Ins_p.I387fs	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	429					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GGTTCCAAAATAAATGTAGGCA	0.366																																						ENST00000261183.3		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1282-1287)tttattfs		oxysterol binding protein-like 8																																				SO:0001589	frameshift_variant	114882				lipid transport		lipid binding	g.chr12:76783492_76783493insC	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1284_1285insG	12.37:g.76783492_76783493insC	ENSP00000261183:p.Ile429fs	True	False		Somatic	0				OSBPL8_ENST00000393250.4_Frame_Shift_Ins_p.I387fs|OSBPL8_ENST00000393249.2_Frame_Shift_Ins_p.I387fs	p.I429fs	NM_020841.4	NP_065892.1	WXS	Illumina HiSeq	Phase_I	Q9BZF1	OSBL8_HUMAN			12	1763_1764	-			429					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Frame_Shift_Ins	INS	ENST00000261183.3	37	c.1284_1285insG	CCDS31862.1																																																																																				0.366	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	0	NM_020841		12:76783492
OSBPL8	114882	broad.mit.edu	37	12	76783493	76783494	+	In_Frame_Ins	INS	-	-	GGCTCT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:76783493_76783494insGGCTCT	ENST00000261183.3	-	12	1762_1763	c.1283_1284insAGAGCC	c.(1282-1284)ttt>ttAGAGCCt	p.428_428F>LEP	OSBPL8_ENST00000393249.2_In_Frame_Ins_p.386_386F>LEP|OSBPL8_ENST00000393250.4_In_Frame_Ins_p.386_386F>LEP	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	428					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						GTTCCAAAATAAATGTAGGCAG	0.371																																						ENST00000261183.3		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						c.(1282-1284)ttt>ttAGAGCCt		oxysterol binding protein-like 8																																				SO:0001652	inframe_insertion	114882				lipid transport		lipid binding	g.chr12:76783493_76783494insGGCTCT	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.1283_1284insAGAGCC	12.37:g.76783493_76783494insGGCTCT	ENSP00000261183:p.Phe428delinsLeuGluPro	True	False		Somatic	0				OSBPL8_ENST00000393250.4_In_Frame_Ins_p.386_386F>LEP|OSBPL8_ENST00000393249.2_In_Frame_Ins_p.386_386F>LEP	p.428_428F>LEP	NM_020841.4	NP_065892.1	WXS	Illumina HiSeq	Phase_I	Q9BZF1	OSBL8_HUMAN			12	1762_1763	-			428					A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	In_Frame_Ins	INS	ENST00000261183.3	37	c.1283_1284insAGAGCC	CCDS31862.1																																																																																				0.371	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	0	NM_020841		12:76783493
SBNO1	55206	broad.mit.edu	37	12	123834966	123834967	+	In_Frame_Ins	INS	-	-	TTTTTTTTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:123834966_123834967insTTTTTTTTT	ENST00000602398.1	-	2	149_150	c.22_23insAAAAAAAAA	c.(22-24)tta>tAAAAAAAAAta	p.8_8L>*KKI	Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000602750.1_In_Frame_Ins_p.8_8L>*KKI|SBNO1_ENST00000267176.4_In_Frame_Ins_p.8_8L>*KKI|SBNO1_ENST00000420886.2_In_Frame_Ins_p.8_8L>*KKI			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	8					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGCAAGCAGTAAATCTTGCCCT	0.391																																						ENST00000602750.1		NA																	0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(22-24)tta>tAAAAAAAAAta		strawberry notch homolog 1 (Drosophila)																																				SO:0001652	inframe_insertion	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123834966_123834967insTTTTTTTTT	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.22_23insAAAAAAAAA	12.37:g.123834966_123834967insTTTTTTTTT	ENSP00000473665:p.Leu8delins*LysLysIle	True	False		Somatic	0				SBNO1_ENST00000420886.2_In_Frame_Ins_p.8_8L>*KKI|SBNO1_ENST00000602398.1_In_Frame_Ins_p.8_8L>*KKI|SBNO1_ENST00000267176.4_In_Frame_Ins_p.8_8L>*KKI	p.8_8L>*KKI			WXS	Illumina HiSeq	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	2	164_165	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		8					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	In_Frame_Ins	INS	ENST00000602398.1	37	c.22_23insAAAAAAAAA	CCDS53844.1																																																																																				0.391	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	NM_018183		12:123834966
SBNO1	55206	broad.mit.edu	37	12	123834968	123834969	+	Frame_Shift_Ins	INS	-	-	GATAG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:123834968_123834969insGATAG	ENST00000602398.1	-	2	147_148	c.20_21insCTATC	c.(19-21)gatfs	p.-7fs	Y_RNA_ENST00000384460.1_RNA|SBNO1_ENST00000602750.1_Frame_Shift_Ins_p.-7fs|SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.-7fs|SBNO1_ENST00000420886.2_Frame_Shift_Ins_p.-7fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)						regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAAGCAGTAAATCTTGCCCTGG	0.386																																						ENST00000602750.1		NA																	0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(19-21)gatfs		strawberry notch homolog 1 (Drosophila)																																				SO:0001589	frameshift_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123834968_123834969insGATAG	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.20_21insCTATC	12.37:g.123834968_123834969insGATAG	ENSP00000473665:p.Asp7fs	True	False		Somatic	0				SBNO1_ENST00000420886.2_Frame_Shift_Ins_p.-7fs|SBNO1_ENST00000602398.1_Frame_Shift_Ins_p.-7fs|SBNO1_ENST00000267176.4_Frame_Shift_Ins_p.-7fs	p.-7fs			WXS	Illumina HiSeq	Phase_I	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	2	162_163	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		NA					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Ins	INS	ENST00000602398.1	37	c.20_21insCTATC	CCDS53844.1																																																																																				0.386	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	0	NM_018183		12:123834968
HSPH1	10808	broad.mit.edu	37	13	31722231	31722232	+	Splice_Site	INS	-	-	CATTGTACAAACTTTA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:31722231_31722232insCATTGTACAAACTTTA	ENST00000320027.5	-	10	1589		c.e10-2		HSPH1_ENST00000445273.2_Splice_Site|HSPH1_ENST00000429785.2_Splice_Site|HSPH1_ENST00000380406.5_Splice_Site|HSPH1_ENST00000380405.4_Splice_Site	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1						chaperone mediated protein folding requiring cofactor (GO:0051085)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of NK T cell activation (GO:0051135)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TCATGAACACTAGAGAGAAAAG	0.376																																						ENST00000380406.5		NA																	0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27						c.e9-2		heat shock 105kDa/110kDa protein 1																																				SO:0001630	splice_region_variant	10808				positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding	g.chr13:31722231_31722232insCATTGTACAAACTTTA	AB003333	CCDS9340.1, CCDS66525.1, CCDS73559.1	13q12.2-q13.3	2011-09-02			ENSG00000120694	ENSG00000120694		"""Heat shock proteins / HSP70"""	16969	protein-coding gene	gene with protein product		610703				9610721, 9931472	Standard	XM_005266236		Approved	HSP105B, KIAA0201, HSP105A, NY-CO-25	uc001utj.3	Q92598	OTTHUMG00000016685	ENST00000320027.5:c.1245-2->TAAAGTTTGTACAATG	13.37:g.31722231_31722232insCATTGTACAAACTTTA		True	False		Somatic	0				HSPH1_ENST00000429785.2_Splice_Site|HSPH1_ENST00000445273.2_Splice_Site|HSPH1_ENST00000320027.5_Splice_Site|HSPH1_ENST00000380405.4_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q92598	HS105_HUMAN		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)	9	1458	-		Lung SC(185;0.0257)	NA					B4DYH1|O95739|Q5TBM6|Q5TBM7|Q5TBM8|Q9UPC4	Splice_Site	INS	ENST00000320027.5	37		CCDS9340.1																																																																																				0.376	HSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044384.1	0		Intron	13:31722231
PDS5B	23047	broad.mit.edu	37	13	33316778	33316779	+	In_Frame_Ins	INS	-	-	AATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:33316778_33316779insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	ENST00000315596.10	+	23	2711_2712	c.2525_2526insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	c.(2524-2529)aatcac>aaAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTTtcac	p.842_842N>KMYLMDAF*EKKKFF		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	842					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		ATGAAAAATAATCACAGTAAAT	0.332																																						ENST00000315596.10		NA																	0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(2524-2529)aatcac>aaAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTTtcac		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)																																				SO:0001652	inframe_insertion	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33316778_33316779insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	Exception_encountered	13.37:g.33316778_33316779insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	ENSP00000313851:p.Asn842delinsLysMetTyrLeuMetAspAlaPhe*GluLysLysLysPhePhe	False	False		Somatic	0					p.842_842N>KMYLMDAF*EKKKFF	NM_015032.3	NP_055847.1	WXS	Illumina HiSeq	Phase_I	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	23	2711_2712	+		Lung SC(185;0.0367)	842					Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	In_Frame_Ins	INS	ENST00000315596.10	37	c.2525_2526insAATGTATTTAATGGATGCTTTTTAAGAAAAGAAAAAATTCTT	CCDS41878.1																																																																																				0.332	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	0	NM_015032		13:33316778
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-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	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
IPO5	3843	broad.mit.edu	37	13	98658599	98658600	+	Frame_Shift_Ins	INS	-	-	GACAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:98658599_98658600insGACAC	ENST00000490680.1	+	14	1778_1779	c.1713_1714insGACAC	c.(1714-1716)aaafs	p.K572fs	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000261574.5_Frame_Shift_Ins_p.K590fs|IPO5_ENST00000539640.1_Frame_Shift_Ins_p.K447fs			O00410	IPO5_HUMAN	importin 5	572					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGGGAAGGAAAAAGTAAGTAA	0.391																																						ENST00000261574.5		NA																	0				breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(1768-1770)aaafs		importin 5																																				SO:0001589	frameshift_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98658599_98658600insGACAC	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	Exception_encountered	13.37:g.98658599_98658600insGACAC	ENSP00000418393:p.Lys572fs	True	False		Somatic	0				IPO5_ENST00000490680.1_Frame_Shift_Ins_p.K572fs|IPO5_ENST00000539640.1_Frame_Shift_Ins_p.K447fs|IPO5_ENST00000493492.2_3'UTR	p.K590fs	NM_002271.4	NP_002262.3	WXS	Illumina HiSeq	Phase_I	O00410	IPO5_HUMAN			17	1947_1948	+			572					B4DZA0|O15257|Q5T578|Q86XC7	Frame_Shift_Ins	INS	ENST00000490680.1	37	c.1767_1768insGACAC																																																																																					0.391	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	NM_002271		13:98658599
TEP1	7011	broad.mit.edu	37	14	20850875	20850876	+	Splice_Site	INS	-	-	CCTATCCCACGTCCT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:20850875_20850876insCCTATCCCACGTCCT	ENST00000262715.5	-	28	4088		c.e28-1		TEP1_ENST00000556935.1_Splice_Site|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1						RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCAGTCGCATCTGGCAAGACTC	0.649																																						ENST00000556935.1		NA																	0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.e26-1		telomerase-associated protein 1																																				SO:0001630	splice_region_variant	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20850875_20850876insCCTATCCCACGTCCT		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.4048-1->AGGACGTGGGATAGG	14.37:g.20850875_20850876insCCTATCCCACGTCCT		False	False		Somatic	0				TEP1_ENST00000262715.5_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	26	3763	-	all_cancers(95;0.00123)	all_lung(585;0.235)	NA					A0AUV9	Splice_Site	INS	ENST00000262715.5	37		CCDS9548.1																																																																																				0.649	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	0	NM_007110	Intron	14:20850875
DAAM1	23002	broad.mit.edu	37	14	59822036	59822037	+	Frame_Shift_Ins	INS	-	-	ACAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:59822036_59822037insACAC	ENST00000395125.1	+	20	2563_2564	c.2540_2541insACAC	c.(2539-2544)aaatccfs	p.S848fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.S838fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.S848fs|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	848	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)		GCTGACACAAAATCCAGCATCG	0.436																																						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.(2539-2544)aaatccfs		dishevelled associated activator of morphogenesis 1																																				SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59822036_59822037insACAC	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.59822036_59822037insACAC	ENSP00000378557:p.Ser848fs	True	False		Somatic	0				DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.S848fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.S838fs|DAAM1_ENST00000553966.1_3'UTR	p.S848fs	NM_014992.2	NP_055807.1	WXS	Illumina HiSeq	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	20	2563_2564	+			848			FH2.		Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Ins	INS	ENST00000395125.1	37	c.2540_2541insACAC	CCDS9737.1																																																																																				0.436	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	NM_014992		14:59822036
DAAM1	23002	broad.mit.edu	37	14	59822038	59822039	+	Frame_Shift_Ins	INS	-	-	AAAAACATGATTA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:59822038_59822039insAAAAACATGATTA	ENST00000395125.1	+	20	2565_2566	c.2542_2543insAAAAACATGATTA	c.(2542-2544)tccfs	p.S848fs	DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.S838fs|DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.S848fs|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	848	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)		TGACACAAAATCCAGCATCGAC	0.436																																						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.(2542-2544)tccfs		dishevelled associated activator of morphogenesis 1																																				SO:0001589	frameshift_variant	23002				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	g.chr14:59822038_59822039insAAAAACATGATTA	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.59822038_59822039insAAAAACATGATTA	ENSP00000378557:p.Ser848fs	False	False		Somatic	0				DAAM1_ENST00000351081.1_Frame_Shift_Ins_p.S848fs|DAAM1_ENST00000360909.3_Frame_Shift_Ins_p.S838fs|DAAM1_ENST00000553966.1_3'UTR	p.S848fs	NM_014992.2	NP_055807.1	WXS	Illumina HiSeq	Phase_I	Q9Y4D1	DAAM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.165)	20	2565_2566	+			848			FH2.		Q86U34|Q8N1Z8|Q8TB39	Frame_Shift_Ins	INS	ENST00000395125.1	37	c.2542_2543insAAAAACATGATTA	CCDS9737.1																																																																																				0.436	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	0	NM_014992		14:59822038
TTC7B	145567	broad.mit.edu	37	14	91196540	91196541	+	Splice_Site	INS	-	-	AATG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:91196540_91196541insAATG	ENST00000328459.6	-	5	698	c.577_577insCATT	c.(577-579)gta>CATTgta	p.V193fs	TTC7B_ENST00000357056.2_Splice_Site_p.V193fs	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	193										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				GAAAGTATTACCTAGAAGGGGA	0.421																																						ENST00000328459.6		NA																	0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(577-579)gta>CATTgta		tetratricopeptide repeat domain 7B																																				SO:0001630	splice_region_variant	145567						binding	g.chr14:91196540_91196541insAATG	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.577-1->CATT	14.37:g.91196540_91196541insAATG		False	False		Somatic	0				TTC7B_ENST00000357056.2_Splice_Site_p.V193fs	p.V193fs	NM_001010854.1	NP_001010854.1	WXS	Illumina HiSeq	Phase_I	Q86TV6	TTC7B_HUMAN			5	698	-		Melanoma(154;0.222)	193					Q86U24|Q86VT3	Splice_Site	INS	ENST00000328459.6	37	c.577_577insCATT	CCDS32140.1																																																																																				0.421	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2	0		Frame_Shift_Ins	14:91196540
TTC7B	145567	broad.mit.edu	37	14	91196541	91196542	+	Splice_Site	INS	-	-	TGTCTCCAGTTTAGTTATTATAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:91196541_91196542insTGTCTCCAGTTTAGTTATTATAA	ENST00000328459.6	-	5	698		c.e5-1		TTC7B_ENST00000357056.2_Splice_Site	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				AAAGTATTACCTAGAAGGGGAG	0.426																																						ENST00000328459.6		NA																	0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.e5-1		tetratricopeptide repeat domain 7B																																				SO:0001630	splice_region_variant	145567						binding	g.chr14:91196541_91196542insTGTCTCCAGTTTAGTTATTATAA	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.577-1->TTATAATAACTAAACTGGAGACA	14.37:g.91196541_91196542insTGTCTCCAGTTTAGTTATTATAA		False	False		Somatic	0				TTC7B_ENST00000357056.2_Splice_Site		NM_001010854.1	NP_001010854.1	WXS	Illumina HiSeq	Phase_I	Q86TV6	TTC7B_HUMAN			5	698	-		Melanoma(154;0.222)	NA					Q86U24|Q86VT3	Splice_Site	INS	ENST00000328459.6	37		CCDS32140.1																																																																																				0.426	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2	0		Intron	14:91196541
SNURF	8926	broad.mit.edu	37	15	25230366	25230367	+	Intron	INS	-	-	CTGCAGATAG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:25230366_25230367insCTGCAGATAG	ENST00000551312.2	+	6	1184				SNORD64_ENST00000386683.1_RNA|SNHG14_ENST00000551361.1_RNA|SNHG14_ENST00000551631.2_RNA|SNORD108_ENST00000459332.1_RNA			Q9Y675	SNURF_HUMAN	SNRPN upstream reading frame							nucleus (GO:0005634)				breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		AACATAAATTCTTAGACTCTAA	0.371																																						ENST00000551631.2		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr15:25230366_25230367insCTGCAGATAG		CCDS10016.1	15q11.2	2013-08-27			ENSG00000214265	ENSG00000214265			11171	protein-coding gene	gene with protein product						10318933	Standard	NM_022804		Approved		uc001ywu.3	Q9Y675	OTTHUMG00000129181	ENST00000551312.2:c.213+2782->CTGCAGATAG	15.37:g.25230366_25230367insCTGCAGATAG		False	False		Somatic	0				SNHG14_ENST00000551361.1_RNA		NR_001293.1		WXS	Illumina HiSeq	Phase_I					0	887	+			NA					A6NCW2	RNA	INS	ENST00000551312.2	37		CCDS10016.1																																																																																				0.371	SNURF-002	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000413842.1	0	NM_005678		15:25230366
SERINC4	619189	broad.mit.edu	37	15	44087392	44087393	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:44087392_44087393insA	ENST00000319327.6	-	12	1596_1597	c.1362_1363insT	c.(1360-1365)ctggaafs	p.E455fs	HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERINC4_ENST00000249714.3_Frame_Shift_Ins_p.E211fs|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000299969.6_Frame_Shift_Ins_p.W380fs|RP11-296A16.1_ENST00000417761.2_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	455					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AAGGTCTTTTCCAGTTCTGCTC	0.505																																						ENST00000299969.6		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(1138-1140)tggfs		serine incorporator 4																																				SO:0001589	frameshift_variant	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44087392_44087393insA	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1362_1363insT	15.37:g.44087392_44087393insA	ENSP00000319796:p.Glu455fs	False	False		Somatic	0				RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000319327.6_Frame_Shift_Ins_p.E455fs|SERINC4_ENST00000249714.3_Frame_Shift_Ins_p.E211fs	p.W380fs			WXS	Illumina HiSeq	Phase_I	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	10	1284_1285	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	0					B2RN41|Q3YL75	Frame_Shift_Ins	INS	ENST00000319327.6	37	c.1139_1140insT	CCDS58360.1																																																																																				0.505	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2	0			15:44087392
SERINC4	619189	broad.mit.edu	37	15	44087394	44087395	+	Frame_Shift_Ins	INS	-	-	AACT	rs567856203	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:44087394_44087395insAACT	ENST00000319327.6	-	12	1594_1595	c.1360_1361insAGTT	c.(1360-1362)ctgfs	p.L454fs	HYPK_ENST00000406925.1_5'Flank|SERF2_ENST00000594896.1_Intron|SERF2_ENST00000409646.1_Intron|MIR1282_ENST00000408865.1_RNA|SERINC4_ENST00000249714.3_Frame_Shift_Ins_p.L210fs|SERF2_ENST00000409291.1_Intron|SERINC4_ENST00000299969.6_Frame_Shift_Ins_p.W380fs|RP11-296A16.1_ENST00000417761.2_Intron	NM_001258031.1	NP_001244960.1	A6NH21	SERC4_HUMAN	serine incorporator 4	454					phospholipid biosynthetic process (GO:0008654)	integral component of membrane (GO:0016021)				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		GGTCTTTTCCAGTTCTGCTCCC	0.505																																						ENST00000299969.6		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6						c.(1135-1140)aactggfs		serine incorporator 4																																				SO:0001589	frameshift_variant	619189				phospholipid biosynthetic process	integral to membrane		g.chr15:44087394_44087395insAACT	DQ103711	CCDS58360.1	15q15.3	2013-09-25			ENSG00000184716	ENSG00000184716			32237	protein-coding gene	gene with protein product		614550					Standard	NM_001258031		Approved	FLJ40363	uc031qrp.1	A6NH21	OTTHUMG00000060144	ENST00000319327.6:c.1360_1361insAGTT	15.37:g.44087394_44087395insAACT	ENSP00000319796:p.Leu454fs	False	False		Somatic	0				RP11-296A16.1_ENST00000417761.2_Intron|SERF2_ENST00000409646.1_Intron|SERF2_ENST00000409291.1_Intron|SERF2_ENST00000594896.1_Intron|SERINC4_ENST00000319327.6_Frame_Shift_Ins_p.L454fs|SERINC4_ENST00000249714.3_Frame_Shift_Ins_p.L210fs	p.W380fs			WXS	Illumina HiSeq	Phase_I	A6NH21	SERC4_HUMAN		GBM - Glioblastoma multiforme(94;7.81e-07)	10	1282_1283	-		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	0					B2RN41|Q3YL75	Frame_Shift_Ins	INS	ENST00000319327.6	37	c.1137_1138insAGTT	CCDS58360.1																																																																																				0.505	SERINC4-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133485.2	0			15:44087394
HERC1	8925	broad.mit.edu	37	15	64021813	64021814	+	Frame_Shift_Ins	INS	-	-	GGAACTTTTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:64021813_64021814insGGAACTTTTT	ENST00000443617.2	-	15	2990_2991	c.2903_2904insAAAAAGTTCC	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_64021814insGGAACTTTTT	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_2904insAAAAAGTTCC	15.37:g.64021813_64021814insGGAACTTTTT	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_2904insAAAAAGTTCC	CCDS45277.1																																																																																				0.366	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	0	NM_003922		15:64021813
CCDC33	80125	broad.mit.edu	37	15	74536401	74536403	+	In_Frame_Del	DEL	AAG	AAG	-	rs397774110|rs201484902|rs10552820|rs201189801|rs35899977	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:74536401_74536403delAAG	ENST00000398814.3	+	2	528_530	c.97_99delAAG	c.(97-99)aagdel	p.K34del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	237										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCCTCTAAGAAGGAGACCA	0.606														1888	0.376997	0.2685	0.379	5008	,	,		16806	0.3492		0.6093	False		,,,				2504	0.3119					ENST00000398814.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(97-99)aagdel		coiled-coil domain containing 33				1328,2488		280,768,860						-0.4	0.1		dbSNP_119	71	4994,2930		1571,1852,539	no	coding	CCDC33	NM_025055.3		1851,2620,1399	A1A1,A1R,RR		36.9763,34.8008,46.1499				6322,5418				SO:0001651	inframe_deletion	80125						protein binding	g.chr15:74536401_74536403delAAG	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.97_99delAAG	15.37:g.74536404_74536406delAAG	ENSP00000381795:p.Lys34del	False	False		Somatic	2				CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	p.K34del	NM_025055.3	NP_079331.3	WXS	Illumina HiSeq	Phase_I	Q8N5R6	CCD33_HUMAN			2	528_530	+			237					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	In_Frame_Del	DEL	ENST00000398814.3	37	c.97_99delAAG	CCDS42058.1																																																																																				0.606	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	0	NM_182791		15:74536401
AKAP13	11214	broad.mit.edu	37	15	86064742	86064743	+	Frame_Shift_Ins	INS	-	-	TCTTCGCAGCCTATCTTTATCAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:86064742_86064743insTCTTCGCAGCCTATCTTTATCAA	ENST00000394518.2	+	3	212_213	c.117_118insTCTTCGCAGCCTATCTTTATCAA	c.(118-120)accfs	p.T40fs	AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.T40fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.T40fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	40					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTTTGGGTTCCACCCTCCGTCA	0.426																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(118-120)accfs		A kinase (PRKA) anchor protein 13																																				SO:0001589	frameshift_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86064742_86064743insTCTTCGCAGCCTATCTTTATCAA	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		Exception_encountered	15.37:g.86064742_86064743insTCTTCGCAGCCTATCTTTATCAA	ENSP00000378026:p.Thr40fs	True	False		Somatic	0				AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.T40fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.T40fs	p.T40fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			3	212_213	+			40					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.117_118insTCTTCGCAGCCTATCTTTATCAA	CCDS32319.1																																																																																				0.426	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86064742
AKAP13	11214	broad.mit.edu	37	15	86064744	86064745	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:86064744_86064745insAT	ENST00000394518.2	+	3	214_215	c.119_120insAT	c.(118-123)accctcfs	p.L41fs	AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.L41fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.L41fs	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	41					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TTGGGTTCCACCCTCCGTCACT	0.431																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(118-123)accctcfs		A kinase (PRKA) anchor protein 13																																				SO:0001589	frameshift_variant	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86064744_86064745insAT	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		Exception_encountered	15.37:g.86064744_86064745insAT	ENSP00000378026:p.Leu41fs	True	False		Somatic	0				AKAP13_ENST00000560302.1_Frame_Shift_Ins_p.L41fs|AKAP13_ENST00000361243.2_Frame_Shift_Ins_p.L41fs	p.L41fs	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			3	214_215	+			41					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Frame_Shift_Ins	INS	ENST00000394518.2	37	c.119_120insAT	CCDS32319.1																																																																																				0.431	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86064744
ARHGAP17	55114	broad.mit.edu	37	16	24942223	24942224	+	Frame_Shift_Ins	INS	-	-	ACTACATTTTATTTAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:24942223_24942224insACTACATTTTATTTAA	ENST00000289968.6	-	19	2465_2466	c.2396_2397insTTAAATAAAATGTAGT	c.(2395-2397)ccafs	p.-799fs	ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.-721fs|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCTTTGGTACTGGTCTCGGTCT	0.614																																						ENST00000289968.6		NA																	0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(2395-2397)ccafs		Rho GTPase activating protein 17																																				SO:0001589	frameshift_variant	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24942223_24942224insACTACATTTTATTTAA	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.2396_2397insTTAAATAAAATGTAGT	16.37:g.24942223_24942224insACTACATTTTATTTAA	ENSP00000289968:p.Pro799fs	False	False		Somatic	0				ARHGAP17_ENST00000303665.5_Frame_Shift_Ins_p.-721fs|ARHGAP17_ENST00000441763.2_3'UTR	p.-799fs	NM_001006634.1	NP_001006635.1	WXS	Illumina HiSeq	Phase_I	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	19	2465_2466	-			NA					A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Frame_Shift_Ins	INS	ENST00000289968.6	37	c.2396_2397insTTAAATAAAATGTAGT	CCDS32409.1																																																																																				0.614	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	0	NM_018054		16:24942223
OR1E1	8387	broad.mit.edu	37	17	3301042	3301043	+	Frame_Shift_Ins	INS	-	-	TGAAGGG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:3301042_3301043insTGAAGGG	ENST00000322608.2	-	1	661_662	c.662_663insCCCTTCA	c.(661-663)attfs	p.-221fs		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	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(2)|lung(5)	10						TGGAGGAGACAATTCTTGCATA	0.485																																						ENST00000322608.2		NA																	0				endometrium(3)|large_intestine(2)|lung(5)	10						c.(661-663)attfs		olfactory receptor, family 1, subfamily E, member 1																																				SO:0001589	frameshift_variant	8387				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3301042_3301043insTGAAGGG	U04642	CCDS11024.1	17p13.3	2012-08-09			ENSG00000180016	ENSG00000180016		"""GPCR / Class A : Olfactory receptors"""	8189	protein-coding gene	gene with protein product				OR1E9P, OR1E5, OR1E6		8004088, 1370859	Standard	NM_003553		Approved	OR17-2, HGM071, OR17-32, OR13-66	uc002fvj.1	P30953	OTTHUMG00000090643	ENST00000322608.2:c.662_663insCCCTTCA	17.37:g.3301042_3301043insTGAAGGG	ENSP00000313384:p.Ile221fs	False	False		Somatic	0					p.-221fs	NM_003553.2	NP_003544.2	WXS	Illumina HiSeq	Phase_I	P30953	OR1E1_HUMAN			1	661_662	-			NA					O43884|P47882|P47885|Q6IFA9|Q6IFM5|Q9UBJ1|Q9UM60	Frame_Shift_Ins	INS	ENST00000322608.2	37	c.662_663insCCCTTCA	CCDS11024.1																																																																																				0.485	OR1E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207303.1	0	NM_003553		17:3301042
TDRD5	163589	broad.mit.edu	37	1	179631421	179631433	+	Splice_Site	DEL	GGTTAGATCCTTG	GGTTAGATCCTTG	-	rs539026820	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GGTTAGATCCTTG	GGTTAGATCCTTG	-	-	GGTTAGATCCTTG	GGTTAGATCCTTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:179631421_179631433delGGTTAGATCCTTG	ENST00000367614.1	+	14	2702	c.2343delGGTTAGATCCTTG	c.(2341-2343)aag>aa	p.K781fs	TDRD5_ENST00000444136.1_Splice_Site_p.K835fs|TDRD5_ENST00000294848.8_Splice_Site_p.K781fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	781					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCACAGAAGGTTAGATCCTTGGAAAAATAGA	0.479																																						ENST00000367614.1		NA																	0				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						c.(2341-2343)aag>aa		tudor domain containing 5																																				SO:0001630	splice_region_variant	163589				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	g.chr1:179631421_179631433delGGTTAGATCCTTG	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2343+1GGTTAGATCCTTG>-	1.37:g.179631421_179631433delGGTTAGATCCTTG		False	False		Somatic	1				TDRD5_ENST00000294848.8_Splice_Site_p.K781fs|TDRD5_ENST00000444136.1_Splice_Site_p.K835fs	p.K781fs	NM_001199091.1	NP_001186020.1	WXS	Illumina HiSeq	Phase_I	Q8NAT2	TDRD5_HUMAN			14	2702	+			781					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Splice_Site	DEL	ENST00000367614.1	37	c.2343delGGTTAGATCCTTG	CCDS1332.1																																																																																				0.479	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	0	NM_173533	Frame_Shift_Del	1:179631421
CDC27	996	broad.mit.edu	37	17	45214727	45214728	+	Splice_Site	INS	-	-	TCTGGAGGATTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:45214727_45214728insTCTGGAGGATTT	ENST00000066544.3	-	14	1798		c.e14-1		CDC27_ENST00000527547.1_Splice_Site|CDC27_ENST00000531206.1_Splice_Site|CDC27_ENST00000446365.2_Splice_Site	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CACACCAGGCCTTAAAAAAATG	0.351																																						ENST00000066544.3		NA																	0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.e14-1		cell division cycle 27																																				SO:0001630	splice_region_variant	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45214727_45214728insTCTGGAGGATTT	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1705-1->AAATCCTCCAGA	17.37:g.45214727_45214728insTCTGGAGGATTT		False	False		Somatic	0				CDC27_ENST00000446365.2_Splice_Site|CDC27_ENST00000531206.1_Splice_Site|CDC27_ENST00000527547.1_Splice_Site		NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	WXS	Illumina HiSeq	Phase_I	P30260	CDC27_HUMAN			14	1798	-			NA					G3V1C4|Q16349|Q96F35	Splice_Site	INS	ENST00000066544.3	37		CCDS11509.1																																																																																				0.351	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2	0		Intron	17:45214727
PDE6G	5148	broad.mit.edu	37	17	79620348	79620348	+	5'UTR	DEL	G	G	-	rs60243881	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:79620348delG	ENST00000331056.5	-	0	131				PDE6G_ENST00000573076.1_Frame_Shift_Del_p.S46fs|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_5'UTR|PDE6G_ENST00000571004.1_5'UTR	NM_002602.3	NP_002593.1	P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma						activation of MAPK activity (GO:0000187)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|enzyme inhibitor activity (GO:0004857)			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		Sildenafil(DB00203)|Vardenafil(DB00862)	TGAGGCTGACGGAGACACCGC	0.667													GG|GG|G|deletion	226	0.0451278	0.0401	0.0447	5008	,	,		14216	0.001		0.0825	False		,,,				2504	0.0593				GBM(189;38 2147 16440 40945 46567)	ENST00000573076.1		NA																	0				lung(2)|urinary_tract(1)	3						c.(136-138)tccfs		phosphodiesterase 6G, cGMP-specific, rod, gamma				192,4072		5,182,1945	26.0	27.0	27.0			-1.5	0.0	17	dbSNP_129	29	597,7657		26,545,3556	yes	utr-5	PDE6G	NM_002602.3		31,727,5501	A1A1,A1R,RR		7.2329,4.5028,6.3029			79620348	789,11729	2202	4291	6493	SO:0001623	5_prime_UTR_variant	5148				platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity	g.chr17:79620348delG		CCDS11783.1	17q21.1	2014-01-28				ENSG00000185527	3.1.4.17	"""Phosphodiesterases"""	8789	protein-coding gene	gene with protein product		180073		PDEG		2155175	Standard	NM_002602		Approved	RP57	uc002kay.3	P18545		ENST00000331056.5:c.-13C>-	17.37:g.79620348delG		False	False		Somatic	2				PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000331056.5_5'UTR|PDE6G_ENST00000571004.1_5'UTR|PDE6G_ENST00000571224.1_5'UTR	p.S46fs			WXS	Illumina HiSeq	Phase_I	P18545	CNRG_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		2	613	-	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		0					Q3KP63|Q7Z3U8	Frame_Shift_Del	DEL	ENST00000331056.5	37	c.138delC	CCDS11783.1																																																																																				0.667	PDE6G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440314.1	0			17:79620348
PLIN4	729359	broad.mit.edu	37	19	4511376	4511377	+	Frame_Shift_Del	DEL	CA	CA	-	rs200819033|rs181881862	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:4511376_4511377delCA	ENST00000301286.3	-	3	2552_2553	c.2553_2554delTG	c.(2551-2556)cttggcfs	p.G852fs		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	852	27 X 33 AA approximate tandem repeat.			NTLG -> DTVC (in Ref. 2; BAB67774). {ECO:0000305}.		cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ACCCCACTGCCAAGGGTGTTCT	0.584																																						ENST00000301286.3		NA																	0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(2551-2556)cttggcfs		perilipin 4																																				SO:0001589	frameshift_variant	729359					lipid particle|plasma membrane		g.chr19:4511376_4511377delCA	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2553_2554delTG	19.37:g.4511376_4511377delCA	ENSP00000301286:p.Gly852fs	False	False		Somatic	1					p.G852fs	NM_001080400.1	NP_001073869.1	WXS	Illumina HiSeq	Phase_I	Q96Q06	PLIN4_HUMAN			3	2552_2553	-			852	NTLG -> DTVC (in Ref. 2; BAB67774).		27 X 33 AA approximate tandem repeat.		A6NEI2	Frame_Shift_Del	DEL	ENST00000301286.3	37	c.2553_2554delTG	CCDS45927.1																																																																																				0.584	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4511376
ZNF358	140467	broad.mit.edu	37	19	7585344	7585370	+	In_Frame_Del	DEL	GCCGCGGCCGCTGCAGCTGCAGCAGCG	GCCGCGGCCGCTGCAGCTGCAGCAGCG	-	rs545765441|rs545053049|rs552712605|rs576059839|rs555910869|rs553646763|rs576765670|rs541575131	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GCCGCGGCCGCTGCAGCTGCAGCAGCG	GCCGCGGCCGCTGCAGCTGCAGCAGCG	-	-	GCCGCGGCCGCTGCAGCTGCAGCAGCG	GCCGCGGCCGCTGCAGCTGCAGCAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7585344_7585370delGCCGCGGCCGCTGCAGCTGCAGCAGCG	ENST00000597229.1	+	2	1386_1412	c.1216_1242delGCCGCGGCCGCTGCAGCTGCAGCAGCG	c.(1216-1242)gccgcggccgctgcagctgcagcagcgdel	p.AAAAAAAAA406del	CTD-2207O23.11_ENST00000602083.1_RNA|MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_In_Frame_Del_p.AAAAAAAAA406del	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	406	Poly-Ala.				embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						tgctgcagctgccgcggccgctgcagctgcagcagcggccgccgGCC	0.692																																						ENST00000597229.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						c.(1216-1242)gccgcggccgctgcagctgcagcagcgdel		zinc finger protein 358																																				SO:0001651	inframe_deletion	140467				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:7585344_7585370delGCCGCGGCCGCTGCAGCTGCAGCAGCG	AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1216_1242delGCCGCGGCCGCTGCAGCTGCAGCAGCG	19.37:g.7585344_7585370delGCCGCGGCCGCTGCAGCTGCAGCAGCG	ENSP00000472305:p.Ala406_Ala414del	True	False		Somatic	1				ZNF358_ENST00000394341.2_In_Frame_Del_p.AAAAAAAAA406del|CTD-2207O23.11_ENST00000602083.1_RNA	p.AAAAAAAAA406del	NM_018083.4	NP_060553.4	WXS	Illumina HiSeq	Phase_I	Q9NW07	ZN358_HUMAN			2	1386_1412	+			406			Poly-Ala.		Q9BTM7	In_Frame_Del	DEL	ENST00000597229.1	37	c.1216_1242delGCCGCGGCCGCTGCAGCTGCAGCAGCG	CCDS32890.2																																																																																				0.692	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316747.1	0			19:7585344
CENPF	1063	broad.mit.edu	37	1	214813479	214813480	+	Frame_Shift_Ins	INS	-	-	TTTATTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:214813479_214813480insTTTATTT	ENST00000366955.3	+	12	1966_1967	c.1798_1799insTTTATTT	c.(1798-1800)agtfs	p.S600fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGCCTTGCTGAGTGCTTTAGAG	0.332																																					Colon(80;575 1284 11000 14801 43496)	ENST00000366955.3		NA																	0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(1798-1800)agtfs		centromere protein F, 350/400kDa																																				SO:0001589	frameshift_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214813479_214813480insTTTATTT	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	Exception_encountered	1.37:g.214813479_214813480insTTTATTT	ENSP00000355922:p.Ser600fs	False	False		Somatic	0					p.S600fs	NM_016343.3	NP_057427.3	WXS	Illumina HiSeq	Phase_I	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	12	1966_1967	+			600					Q13171|Q13246|Q5VVM7	Frame_Shift_Ins	INS	ENST00000366955.3	37	c.1798_1799insTTTATTT	CCDS31023.1																																																																																				0.332	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	0	NM_016343		1:214813479
CYP24A1	1591	broad.mit.edu	37	20	52789467	52789469	+	In_Frame_Del	DEL	CTT	CTT	-	rs374094543|rs370328266		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:52789467_52789469delCTT	ENST00000216862.3	-	2	821_823	c.428_430delAAG	c.(427-432)gaaggc>ggc	p.E143del	CYP24A1_ENST00000395954.3_5'Flank|CYP24A1_ENST00000395955.3_In_Frame_Del_p.E143del	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	143			Missing (in HCAI; complete loss of function). {ECO:0000269|PubMed:21675912}.		osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	AGCCCGTAGCCTTCTTTGCGGTA	0.631																																						ENST00000216862.3		NA																	0				breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(427-432)gaaggc>ggc		cytochrome P450, family 24, subfamily A, polypeptide 1	Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)		,	2,4262		0,2,2130					,	4.2	1.0			96	18,8236		6,6,4115	no	coding,coding	CYP24A1	NM_001128915.1,NM_000782.4	,	6,8,6245	A1A1,A1R,RR		0.2181,0.0469,0.1598	,	,		20,12498				SO:0001651	inframe_deletion	0				hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen	g.chr20:52789467_52789469delCTT	U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.428_430delAAG	20.37:g.52789470_52789472delCTT	ENSP00000216862:p.Glu143del	False	False		Somatic	2				CYP24A1_ENST00000395955.3_In_Frame_Del_p.E143del	p.E143del	NM_000782.4	NP_000773.2	WXS	Illumina HiSeq	Phase_I	Q07973	CP24A_HUMAN	STAD - Stomach adenocarcinoma(23;0.206)		2	821_823	-	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		143					Q15807|Q32ML3|Q5I2W7	In_Frame_Del	DEL	ENST00000216862.3	37	c.428_430delAAG	CCDS33491.1																																																																																				0.631	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079769.2	0			20:52789467
LTN1	26046	broad.mit.edu	37	21	30313649	30313650	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:30313649_30313650insT	ENST00000361371.5	-	25	4453_4454	c.4374_4375insA	c.(4372-4377)gttggafs	p.G1459fs	LTN1_ENST00000389194.2_Frame_Shift_Ins_p.G1505fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1459					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						ACTATCTGTCCAACAGGAATAC	0.381																																						ENST00000389194.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4510-4515)gttggafs		listerin E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	26046						ligase activity|zinc ion binding	g.chr21:30313649_30313650insT	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4374_4375insA	21.37:g.30313649_30313650insT	ENSP00000354977:p.Gly1459fs	False	False		Somatic	0				LTN1_ENST00000361371.4_Frame_Shift_Ins_p.G1459fs	p.G1505fs			WXS	Illumina HiSeq	Phase_I	O94822	LTN1_HUMAN			25	4517_4518	-			1459					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Ins	INS	ENST00000361371.5	37	c.4512_4513insA																																																																																					0.381	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	0	NM_015565		21:30313649
LTN1	26046	broad.mit.edu	37	21	30313651	30313652	+	Frame_Shift_Ins	INS	-	-	TATGCTTCTGATACTGTTCTAAATACCTTCCTTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:30313651_30313652insTATGCTTCTGATACTGTTCTAAATACCTTCCTTT	ENST00000361371.5	-	25	4451_4452	c.4372_4373insAAAGGAAGGTATTTAGAACAGTATCAGAAGCATA	c.(4372-4374)gttfs	p.V1458fs	LTN1_ENST00000389194.2_Frame_Shift_Ins_p.V1504fs			O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	1458					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TATCTGTCCAACAGGAATACAC	0.381																																						ENST00000389194.2		NA																	0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						c.(4510-4512)gttfs		listerin E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	26046						ligase activity|zinc ion binding	g.chr21:30313651_30313652insTATGCTTCTGATACTGTTCTAAATACCTTCCTTT	AK001915	CCDS33527.1, CCDS33527.2	21q21.3	2013-01-09	2010-09-17	2010-09-17	ENSG00000198862	ENSG00000198862		"""RING-type (C3HC4) zinc fingers"""	13082	protein-coding gene	gene with protein product	"""listerin"""	613083	"""chromosome 21 open reading frame 98"", ""zinc finger protein 294"", ""ring finger protein 160"""	C21orf98, C21orf10, ZNF294, RNF160		20835226, 19196968	Standard	NM_015565		Approved	KIAA0714, FLJ11053, LISTERIN	uc002ymr.2	O94822	OTTHUMG00000078803	ENST00000361371.5:c.4372_4373insAAAGGAAGGTATTTAGAACAGTATCAGAAGCATA	21.37:g.30313651_30313652insTATGCTTCTGATACTGTTCTAAATACCTTCCTTT	ENSP00000354977:p.Val1458fs	False	False		Somatic	0				LTN1_ENST00000361371.4_Frame_Shift_Ins_p.V1458fs	p.V1504fs			WXS	Illumina HiSeq	Phase_I	O94822	LTN1_HUMAN			25	4515_4516	-			1458					A6NL41|A7E2D0|B2RTS0|C9J7U3|J3KPL4|Q05C47|Q9H8M4|Q9NUY5|Q9P0E9	Frame_Shift_Ins	INS	ENST00000361371.5	37	c.4510_4511insAAAGGAAGGTATTTAGAACAGTATCAGAAGCATA																																																																																					0.381	LTN1-008	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000472108.1	0	NM_015565		21:30313651
PAXBP1	94104	broad.mit.edu	37	21	34118014	34118015	+	Frame_Shift_Ins	INS	-	-	TCTATTTTTAT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:34118014_34118015insTCTATTTTTAT	ENST00000331923.4	-	12	2127_2128	c.1938_1939insATAAAAATAGA	c.(1936-1941)gactttfs	p.F647fs	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.F647fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	647					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										ATATTCTCAAAGTCACGACATT	0.361																																						ENST00000290178.4		NA																	0					NA						c.(1936-1941)gactttfs		PAX3 and PAX7 binding protein 1																																				SO:0001589	frameshift_variant	94104							g.chr21:34118014_34118015insTCTATTTTTAT	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1938_1939insATAAAAATAGA	21.37:g.34118014_34118015insTCTATTTTTAT	ENSP00000328992:p.Phe647fs	True	False		Somatic	0				PAXBP1_ENST00000331923.4_Frame_Shift_Ins_p.F647fs	p.F647fs	NM_013329.3	NP_037461.2	WXS	Illumina HiSeq	Phase_I					12	1937_1938	-			NA					D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Ins	INS	ENST00000331923.4	37	c.1938_1939insATAAAAATAGA	CCDS13619.1																																																																																				0.361	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	0	NM_013329		21:34118014
PAXBP1	94104	broad.mit.edu	37	21	34118015	34118016	+	Frame_Shift_Ins	INS	-	-	AGTTTATAAT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:34118015_34118016insAGTTTATAAT	ENST00000331923.4	-	12	2126_2127	c.1937_1938insATTATAAACT	c.(1936-1938)gacfs	p.D646fs	PAXBP1-AS1_ENST00000440052.1_RNA|PAXBP1_ENST00000290178.4_Frame_Shift_Ins_p.D646fs	NM_016631.3	NP_057715.2	Q9Y5B6	PAXB1_HUMAN	PAX3 and PAX7 binding protein 1	646					muscle organ development (GO:0007517)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of satellite cell proliferation (GO:0014842)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										TATTCTCAAAGTCACGACATTT	0.361																																						ENST00000290178.4		NA																	0					NA						c.(1936-1938)gacfs		PAX3 and PAX7 binding protein 1																																				SO:0001589	frameshift_variant	94104							g.chr21:34118015_34118016insAGTTTATAAT	AF231920	CCDS13619.1, CCDS33541.1	21q22.11	2014-01-23	2013-01-08	2013-01-08	ENSG00000159086	ENSG00000159086			13579	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 105"", ""GC-rich sequence DNA-binding factor candidate"""		"""chromosome 21 open reading frame 66"", ""GC-rich sequence DNA-binding factor 1"""	C21orf66, GCFC1		11707072, 22862948	Standard	NM_016631		Approved	GCFC, fSAP105	uc002yqn.3	Q9Y5B6	OTTHUMG00000064980	ENST00000331923.4:c.1937_1938insATTATAAACT	21.37:g.34118015_34118016insAGTTTATAAT	ENSP00000328992:p.Asp646fs	False	False		Somatic	0				PAXBP1_ENST00000331923.4_Frame_Shift_Ins_p.D646fs	p.D646fs	NM_013329.3	NP_037461.2	WXS	Illumina HiSeq	Phase_I					12	1936_1937	-			NA					D3DSE7|Q96DU8|Q9NYQ0	Frame_Shift_Ins	INS	ENST00000331923.4	37	c.1937_1938insATTATAAACT	CCDS13619.1																																																																																				0.361	PAXBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139563.1	0	NM_013329		21:34118015
SON	6651	broad.mit.edu	37	21	34926874	34926875	+	Frame_Shift_Ins	INS	-	-	GCTAATG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:34926874_34926875insGCTAATG	ENST00000356577.4	+	3	5812_5813	c.5337_5338insGCTAATG	c.(5338-5340)tcafs	p.S1780fs	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Frame_Shift_Ins_p.S1780fs|SON_ENST00000290239.6_Frame_Shift_Ins_p.S1780fs|SON_ENST00000381679.4_Frame_Shift_Ins_p.S1780fs	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1780					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						CAGAAAGAGCTTCAGAGTCTTC	0.416																																						ENST00000381679.4		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.(5338-5340)tcafs		SON DNA binding protein																																				SO:0001589	frameshift_variant	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.chr21:34926874_34926875insGCTAATG	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.34926874_34926875insGCTAATG	ENSP00000348984:p.Ser1780fs	False	False		Somatic	0				SON_ENST00000300278.4_Frame_Shift_Ins_p.S1780fs|SON_ENST00000381692.2_Intron|SON_ENST00000356577.4_Frame_Shift_Ins_p.S1780fs|SON_ENST00000290239.6_Frame_Shift_Ins_p.S1780fs	p.S1780fs			WXS	Illumina HiSeq	Phase_I	P18583	SON_HUMAN			3	5365_5366	+			1780					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Frame_Shift_Ins	INS	ENST00000356577.4	37	c.5337_5338insGCTAATG	CCDS13629.1																																																																																				0.416	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	0	NM_138927		21:34926874
IGLV4-60	28785	broad.mit.edu	37	22	22516884	22516884	+	RNA	DEL	C	C	-	rs34221567	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:22516884delC	ENST00000390284.2	+	0	172									immunoglobulin lambda variable 4-60																		CGCATGGCATCAGCAGCAGCC	0.567													C|C|-|deletion	905	0.180711	0.1074	0.2406	5008	,	,		20423	0.0575		0.4195	False		,,,				2504	0.1186					ENST00000390284.2		NA																	0					NA												613,3457		73,467,1495	70.0	58.0	62.0			-5.7	0.0	22	dbSNP_126	82	3051,5071		628,1795,1638	no	intergenic				701,2262,3133	A1A1,A1R,RR		37.5646,15.0614,30.0525			22516884	3664,8528	2043	3697	5740			0							g.chr22:22516884delC	Z73667		22q11.2	2012-02-08			ENSG00000211639	ENSG00000211639		"""Immunoglobulins / IGL locus"""	5920	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150851		22.37:g.22516884delC		True	False		Somatic	1								WXS	Illumina HiSeq	Phase_I					0	172	+			NA						RNA	DEL	ENST00000390284.2	37																																																																																						0.567	IGLV4-60-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000320328.1	0	NG_000002		22:22516884
SPECC1L	23384	broad.mit.edu	37	22	24726375	24726376	+	Frame_Shift_Ins	INS	-	-	GAGCAATCAAG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:24726375_24726376insGAGCAATCAAG	ENST00000314328.9	+	8	2657_2658	c.2372_2373insGAGCAATCAAG	c.(2371-2376)gaattgfs	p.L792fs	SPECC1L_ENST00000437398.1_Frame_Shift_Ins_p.L792fs|SPECC1L-ADORA2A_ENST00000358654.2_Frame_Shift_Ins_p.L792fs|SPECC1L_ENST00000541492.1_Frame_Shift_Ins_p.L792fs	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145	Q69YQ0	CYTSA_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1-like	792					actin cytoskeleton organization (GO:0030036)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell migration (GO:0016477)|negative regulation of actin filament depolymerization (GO:0030835)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|gap junction (GO:0005921)|microtubule organizing center (GO:0005815)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						CTCACAAAAGAATTGGAGGAAA	0.376																																						ENST00000314328.9		NA																	0				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1)	27						c.(2371-2376)gaattgfs		sperm antigen with calponin homology and coiled-coil domains 1-like																																				SO:0001589	frameshift_variant	23384				cell cycle|cell division			g.chr22:24726375_24726376insGAGCAATCAAG	AK025531	CCDS33619.1, CCDS58797.1	22q11.23	2012-12-20	2010-09-17	2010-09-17	ENSG00000100014	ENSG00000100014			29022	protein-coding gene	gene with protein product	"""cytokinesis and spindle organization A"", ""cytospin A"""	614140	"""SPECC1-like"""			9205841	Standard	NM_001254733		Approved	KIAA0376, CYTSA	uc002zzv.4	Q69YQ0	OTTHUMG00000171450	Exception_encountered	22.37:g.24726375_24726376insGAGCAATCAAG	ENSP00000325785:p.Leu792fs	False	False		Somatic	0				SPECC1L_ENST00000437398.1_Frame_Shift_Ins_p.L792fs|KB-1896H10.1_ENST00000358654.2_Frame_Shift_Ins_p.L792fs|SPECC1L_ENST00000541492.1_Frame_Shift_Ins_p.L792fs	p.L792fs	NM_001254733.1|NM_015330.3	NP_001241662.1|NP_056145.3	WXS	Illumina HiSeq	Phase_I	Q69YQ0	CYTSA_HUMAN			8	2657_2658	+			792					B7Z758|F5H1H6|O15081	Frame_Shift_Ins	INS	ENST00000314328.9	37	c.2372_2373insGAGCAATCAAG	CCDS33619.1																																																																																				0.376	SPECC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319986.2	0	NM_015330		22:24726375
DISC1	27185	broad.mit.edu	37	1	231829947	231829948	+	Frame_Shift_Ins	INS	-	-	GAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:231829947_231829948insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	ENST00000602281.1	+	2	496_497	c.443_444insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	c.(442-447)gcagccfs	p.A149fs	DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602873.1_Intron|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000537876.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000439617.2_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000317586.4_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000366636.4_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000535983.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000366633.3_Frame_Shift_Ins_p.A149fs	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	149	Interaction with MAP1A.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CAAGAGTTTGCAGCCATGGATA	0.624																																						ENST00000439617.2		NA																	0				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						c.(442-447)gcagccfs		disrupted in schizophrenia 1																																				SO:0001589	frameshift_variant	27185				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding	g.chr1:231829947_231829948insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	Exception_encountered	1.37:g.231829947_231829948insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	ENSP00000473425:p.Ala149fs	False	False		Somatic	0				DISC1_ENST00000366633.3_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000537876.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000535983.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000317586.4_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000602281.1_Frame_Shift_Ins_p.A149fs|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Frame_Shift_Ins_p.A149fs|DISC1_ENST00000366636.4_Frame_Shift_Ins_p.A149fs	p.A149fs	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	WXS	Illumina HiSeq	Phase_I	Q9NRI5	DISC1_HUMAN			2	496_497	+		all_cancers(173;0.0208)|Prostate(94;0.0975)	149			Interaction with MAP1A.		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Frame_Shift_Ins	INS	ENST00000602281.1	37	c.443_444insGAAACCCCATCTCTACTACAAATACAAAAAAAAAAAA	CCDS59205.1																																																																																				0.624	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467451.1	0	NM_018662		1:231829947
CYTH4	27128	broad.mit.edu	37	22	37688745	37688746	+	Splice_Site	INS	-	-	ACTTGCCC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:37688745_37688746insACTTGCCC	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_37688746insACTTGCCC	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->ACTTGCCC	22.37:g.37688745_37688746insACTTGCCC		False	False		Somatic	0				CYTH4_ENST00000439667.1_Splice_Site|CYTH4_ENST00000402997.1_Splice_Site|CYTH4_ENST00000248901.6_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
ANKRD54	129138	broad.mit.edu	37	22	38243711	38243757	+	Intron	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	rs571768451|rs538871264|rs557855135|rs369207831|rs551625430		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000609454.1	-	1	391				EIF3L_ENST00000381683.6_5'Flank|MIR659_ENST00000384963.1_RNA|EIF3L_ENST00000412331.2_5'Flank|EIF3L_ENST00000406934.1_5'Flank			Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421																																						ENST00000384963.1		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000609454.1:c.26+1186ACCTTCCCTGAACCAAGGAAGAGTCACAGTCTCTTCCTTGGTTCAGG>-	22.37:g.38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT		False	False		Somatic	1						NR_030396.1		WXS	Illumina HiSeq	Phase_I					0	24_70	-			NA					Q6ZSB1|Q9UGV1	RNA	DEL	ENST00000609454.1	37																																																																																						0.421	ANKRD54-013	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000472272.1	0	NM_138797		22:38243711
OR14A16	284532	broad.mit.edu	37	1	247978542	247978544	+	In_Frame_Del	DEL	AGG	AGG	-	rs113112592|rs200138400|rs35979231|rs375198428	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	AGG	AGG	-	-	AGG	AGG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247978542_247978544delAGG	ENST00000357627.1	-	1	487_489	c.488_490delCCT	c.(487-492)tcctta>tta	p.S163del		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	163						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CAGTAGGATAAGGAGAAGGTGCC	0.453														3609	0.720647	0.2163	0.8184	5008	,	,		19954	0.9851		0.8797	False		,,,				2504	0.8967				Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1		NA																	0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(487-492)tcctta>tta		olfactory receptor, family 14, subfamily A, member 16				1367,2899		211,945,977						2.3	0.0		dbSNP_126	91	7198,1056		3139,920,68	no	coding	OR14A16	NM_001001966.1		3350,1865,1045	A1A1,A1R,RR		12.7938,32.0441,31.5895				8565,3955				SO:0001651	inframe_deletion	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978542_247978544delAGG	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.488_490delCCT	1.37:g.247978542_247978544delAGG	ENSP00000350248:p.Ser163del	False	False		Somatic	1					p.S163del	NM_001001966.1	NP_001001966.1	WXS	Illumina HiSeq	Phase_I	Q8NHC5	O14AG_HUMAN			1	487_489	-			163					Q6IF96	In_Frame_Del	DEL	ENST00000357627.1	37	c.488_490delCCT	CCDS31097.1																																																																																				0.453	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	0	NM_001001966		1:247978542
PPM1B	5495	broad.mit.edu	37	2	44428513	44428514	+	Frame_Shift_Ins	INS	-	-	TGGGTTTATCCAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:44428513_44428514insTGGGTTTATCCAA	ENST00000282412.4	+	2	587_588	c.175_176insTGGGTTTATCCAA	c.(175-177)tatfs	p.Y59fs	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000378551.2_Frame_Shift_Ins_p.Y59fs	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	59					cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTTTGCAGTTTATGATGGTCAT	0.45																																						ENST00000378551.2		NA																	0				kidney(4)|large_intestine(3)|lung(7)|skin(2)	16						c.(175-177)tatfs		protein phosphatase, Mg2+/Mn2+ dependent, 1B																																				SO:0001589	frameshift_variant	5495				protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr2:44428513_44428514insTGGGTTTATCCAA	AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	Exception_encountered	2.37:g.44428513_44428514insTGGGTTTATCCAA	ENSP00000282412:p.Tyr59fs	True	False		Somatic	0				PPM1B_ENST00000282412.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.Y59fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000378540.4_3'UTR	p.Y59fs	NM_177968.2	NP_808907.1	WXS	Illumina HiSeq	Phase_I	O75688	PPM1B_HUMAN			2	587_588	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	59					Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	Frame_Shift_Ins	INS	ENST00000282412.4	37	c.175_176insTGGGTTTATCCAA	CCDS1817.1																																																																																				0.450	PPM1B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250672.1	0	NM_002706		2:44428513
EHBP1	23301	broad.mit.edu	37	2	63206454	63206455	+	Frame_Shift_Ins	INS	-	-	CAATT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:63206454_63206455insCAATT	ENST00000263991.5	+	16	3179_3180	c.2697_2698insCAATT	c.(2698-2700)tcafs	p.S900fs	EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000496857.1_3'UTR	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	900						cytoplasm (GO:0005737)|membrane (GO:0016020)				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TGAAAGAAAGGTCAAAGGCATC	0.421																																						ENST00000263991.5		NA																	0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47						c.(2698-2700)tcafs		EH domain binding protein 1																																				SO:0001589	frameshift_variant	23301					cytoplasm|membrane		g.chr2:63206454_63206455insCAATT	AL833968	CCDS1872.1, CCDS46299.1, CCDS46300.1	2p15	2008-02-05			ENSG00000115504	ENSG00000115504			29144	protein-coding gene	gene with protein product		609922				10048485	Standard	NM_015252		Approved	KIAA0903, NACSIN	uc002sby.3	Q8NDI1	OTTHUMG00000129453	Exception_encountered	2.37:g.63206454_63206455insCAATT	ENSP00000263991:p.Ser900fs	False	False		Somatic	0				EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000496857.1_3'UTR|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.S865fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.S865fs	p.S900fs	NM_015252.3	NP_056067.2	WXS	Illumina HiSeq	Phase_I	Q8NDI1	EHBP1_HUMAN	LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)		16	3179_3180	+	Lung NSC(7;0.0951)|all_lung(7;0.169)		900					O94977|Q53TG7|Q53TV6|Q580X2|Q6NX72|Q6PIT3|Q6QNV2|Q9NWI9	Frame_Shift_Ins	INS	ENST00000263991.5	37	c.2697_2698insCAATT	CCDS1872.1																																																																																				0.421	EHBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251616.1	0	NM_015252		2:63206454
IL1R1	3554	broad.mit.edu	37	2	102792134	102792135	+	Intron	INS	-	-	AAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:102792134_102792135insAAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	ENST00000410023.1	+	11	1621				IL1R1_ENST00000424272.1_Frame_Shift_Ins_p.L445fs|IL1R1_ENST00000233946.3_Intron|IL1R1_ENST00000409288.1_Frame_Shift_Ins_p.L445fs|IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409329.1_Frame_Shift_Ins_p.L445fs			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)ttafs		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_102792135insAAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	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->AAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	2.37:g.102792134_102792135insAAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA		False	False		Somatic	0				IL1R1_ENST00000409929.1_Intron|IL1R1_ENST00000409329.1_Frame_Shift_Ins_p.L445fs|IL1R1_ENST00000410023.1_Intron|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000233946.3_Intron|IL1R1_ENST00000409288.1_Frame_Shift_Ins_p.L445fs|AC007271.3_ENST00000428188.1_RNA	p.L445fs			WXS	Illumina HiSeq	Phase_I	P14778	IL1R1_HUMAN			11	1573_1574	+			0			TIR.		Q587I7	Frame_Shift_Ins	INS	ENST00000410023.1	37	c.1332_1333insAAAAATAAGAGATTTGATAAAGTCAGTATCACAAACA	CCDS2055.1																																																																																				0.381	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1	0			2:102792134
GALNT5	11227	broad.mit.edu	37	2	158152271	158152272	+	Frame_Shift_Ins	INS	-	-	TATAAATG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:158152271_158152272insTATAAATG	ENST00000259056.4	+	4	2323_2324	c.1838_1839insTATAAATG	c.(1837-1842)gcctgtfs	p.C614fs		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	614					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGAAAGTGGCCTGTCCAGTAA	0.366																																						ENST00000259056.4		NA																	0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(1837-1842)gcctgtfs		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)																																				SO:0001589	frameshift_variant	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158152271_158152272insTATAAATG	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	Exception_encountered	2.37:g.158152271_158152272insTATAAATG	ENSP00000259056:p.Cys614fs	False	False		Somatic	0					p.C614fs	NM_014568.1	NP_055383.1	WXS	Illumina HiSeq	Phase_I	Q7Z7M9	GALT5_HUMAN			4	2323_2324	+			614					A5PKZ1|Q9UGK7|Q9UHL6	Frame_Shift_Ins	INS	ENST00000259056.4	37	c.1838_1839insTATAAATG	CCDS2203.1																																																																																				0.366	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	0	NM_014568		2:158152271
ESPNP	284729	broad.mit.edu	37	1	17034456	17034463	+	RNA	DEL	GCGCGCGT	GCGCGCGT	-	rs140689885|rs58726851	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GCGCGCGT	GCGCGCGT	-	-	GCGCGCGT	GCGCGCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:17034456_17034463delGCGCGCGT	ENST00000492551.1	-	0	304_311					NR_026567.1				espin pseudogene																		CGTCGTGGGCGCGCGCGTGCGGGTCCGC	0.726														1012	0.202077	0.0446	0.2277	5008	,	,		27320	0.3135		0.2028	False		,,,				2504	0.2812					ENST00000492551.1		NA																	0					NA																																														0							g.chr1:17034456_17034463delGCGCGCGT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034456_17034463delGCGCGCGT		True	False		Somatic	1						NR_026567.1		WXS	Illumina HiSeq	Phase_I					0	304_311	-			NA						RNA	DEL	ENST00000492551.1	37																																																																																						0.726	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1	0			1:17034456
SCN3A	6328	broad.mit.edu	37	2	165950945	165950946	+	Frame_Shift_Ins	INS	-	-	TCACA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:165950945_165950946insTCACA	ENST00000360093.3	-	26	4965_4966	c.4474_4475insTGTGA	c.(4474-4476)tatfs	p.Y1492fs	SCN3A_ENST00000283254.7_Frame_Shift_Ins_p.Y1492fs|SCN3A_ENST00000465043.1_5'Flank|SCN3A_ENST00000409101.3_Frame_Shift_Ins_p.Y1443fs|SCN3A_ENST00000540861.1_5'Flank	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1492					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCATTGTAATATTTTTTCTGT	0.361																																						ENST00000283254.7		NA																	0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(4474-4476)tatfs		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)																																			SO:0001589	frameshift_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165950945_165950946insTCACA	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.4474_4475insTGTGA	2.37:g.165950945_165950946insTCACA	ENSP00000353206:p.Tyr1492fs	True	False		Somatic	0				SCN3A_ENST00000409101.3_Frame_Shift_Ins_p.Y1443fs|SCN3A_ENST00000360093.3_Frame_Shift_Ins_p.Y1492fs	p.Y1492fs	NM_001081676.1|NM_006922.3	NP_001075145.1|NP_008853.3	WXS	Illumina HiSeq	Phase_I	Q9NY46	SCN3A_HUMAN			26	4941_4942	-			1492					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Frame_Shift_Ins	INS	ENST00000360093.3	37	c.4474_4475insTGTGA																																																																																					0.361	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		0	NM_006922		2:165950945
PGAP1	80055	broad.mit.edu	37	2	197767430	197767431	+	Frame_Shift_Ins	INS	-	-	GAAAGAAGAAATAATATATAGC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:197767430_197767431insGAAAGAAGAAATAATATATAGC	ENST00000354764.4	-	5	799_800	c.685_686insGCTATATATTATTTCTTCTTTC	c.(685-687)aatfs	p.N229fs	PGAP1_ENST00000409188.1_Frame_Shift_Ins_p.N187fs|PGAP1_ENST00000409475.1_Frame_Shift_Ins_p.N229fs|PGAP1_ENST00000485830.1_5'UTR	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	229					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTGTCGAGCATTTAGAATCCAA	0.351																																						ENST00000409188.1		NA																	0				breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						c.(559-561)aatfs		post-GPI attachment to proteins 1																																				SO:0001589	frameshift_variant	80055				attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity	g.chr2:197767430_197767431insGAAAGAAGAAATAATATATAGC		CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.685_686insGCTATATATTATTTCTTCTTTC	2.37:g.197767430_197767431insGAAAGAAGAAATAATATATAGC	ENSP00000346809:p.Asn229fs	True	False		Somatic	0				PGAP1_ENST00000354764.3_Frame_Shift_Ins_p.N229fs|PGAP1_ENST00000409475.1_Frame_Shift_Ins_p.N229fs|PGAP1_ENST00000485830.1_5'UTR	p.N187fs			WXS	Illumina HiSeq	Phase_I	Q75T13	PGAP1_HUMAN			5	743_744	-			229					Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Frame_Shift_Ins	INS	ENST00000354764.4	37	c.559_560insGCTATATATTATTTCTTCTTTC	CCDS2318.1																																																																																				0.351	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256103.5	0	NM_024989		2:197767430
MAP2	4133	broad.mit.edu	37	2	210543383	210543384	+	In_Frame_Ins	INS	-	-	TTTTTTAATTGC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210543383_210543384insTTTTTTAATTGC	ENST00000360351.4	+	5	856_857	c.350_351insTTTTTTAATTGC	c.(349-354)aaagac>aaTTTTTTAATTGCagac	p.117_117K>NFLIA	MAP2_ENST00000447185.1_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000392194.1_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000199940.6_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000361559.4_In_Frame_Ins_p.117_117K>NFLIA	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	117					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	GCTCAACATAAAGACCAGACTG	0.441																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(349-354)aaagac>aaTTTTTTAATTGCagac		microtubule-associated protein 2	Estramustine(DB01196)																																			SO:0001652	inframe_insertion	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210543383_210543384insTTTTTTAATTGC		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	Exception_encountered	2.37:g.210543383_210543384insTTTTTTAATTGC	ENSP00000353508:p.Lys117delinsAsnPheLeuIleAla	True	False		Somatic	0				MAP2_ENST00000361559.4_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000392194.1_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000447185.1_In_Frame_Ins_p.117_117K>NFLIA|MAP2_ENST00000199940.6_In_Frame_Ins_p.117_117K>NFLIA	p.117_117K>NFLIA	NM_002374.3	NP_002365.3	WXS	Illumina HiSeq	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	5	856_857	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	117					Q17S04|Q8IUX2|Q99975|Q99976	In_Frame_Ins	INS	ENST00000360351.4	37	c.350_351insTTTTTTAATTGC	CCDS2384.1																																																																																				0.441	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	0	NM_001039538		2:210543383
SEPT2	4735	broad.mit.edu	37	2	242283288	242283289	+	In_Frame_Ins	INS	-	-	AACACATTGCTA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:242283288_242283289insAACACATTGCTA	ENST00000391973.2	+	9	1346_1347	c.818_819insAACACATTGCTA	c.(817-822)tttctg>ttAACACATTGCTAtctg	p.273_273F>LTHCY	SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTHCY|SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTHCY	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	273	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CACAATGACTTTCTGAAGCTGA	0.49																																						ENST00000391973.2		NA																	0				central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(817-822)tttctg>ttAACACATTGCTAtctg		septin 2																																				SO:0001652	inframe_insertion	4735				cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding	g.chr2:242283288_242283289insAACACATTGCTA	D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	Exception_encountered	2.37:g.242283288_242283289insAACACATTGCTA	ENSP00000375834:p.Phe273delinsLeuThrHisCysTyr	True	False		Somatic	0				SEPT2_ENST00000391971.2_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000407971.1_In_Frame_Ins_p.233_233F>LTHCY|SEPT2_ENST00000360051.3_In_Frame_Ins_p.273_273F>LTHCY|SEPT2_ENST00000401990.1_In_Frame_Ins_p.283_283F>LTHCY|SEPT2_ENST00000402092.2_In_Frame_Ins_p.273_273F>LTHCY	p.273_273F>LTHCY	NM_006155.1	NP_006146.1	WXS	Illumina HiSeq	Phase_I	Q15019	SEPT2_HUMAN		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)	9	1346_1347	+		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	273					B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	In_Frame_Ins	INS	ENST00000391973.2	37	c.818_819insAACACATTGCTA	CCDS2548.1																																																																																				0.490	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	0	NM_006155		2:242283288
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
ATP2C1	27032	broad.mit.edu	37	3	130686063	130686064	+	Frame_Shift_Ins	INS	-	-	AAAACTATAAT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:130686063_130686064insAAAACTATAAT	ENST00000510168.1	+	15	1747_1748	c.1197_1198insAAAACTATAAT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTATAACCCAGCTGTTAGCAG	0.342									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1		NA																	0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1198-1200)gctfs		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686063_130686064insAAAACTATAAT	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	Exception_encountered	3.37:g.130686063_130686064insAAAACTATAAT	ENSP00000427461:p.Ala400fs	False	False		Somatic	0				ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs	p.A400fs			WXS	Illumina HiSeq	Phase_I	P98194	AT2C1_HUMAN			15	1747_1748	+			400					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Ins	INS	ENST00000510168.1	37	c.1197_1198insAAAACTATAAT	CCDS46914.1																																																																																				0.342	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	NM_001001486		3:130686063
ATP2C1	27032	broad.mit.edu	37	3	130686064	130686065	+	Frame_Shift_Ins	INS	-	-	AGTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:130686064_130686065insAGTT	ENST00000510168.1	+	15	1748_1749	c.1198_1199insAGTT	c.(1198-1200)gctfs	p.A400fs	ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	400					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTATAACCCAGCTGTTAGCAGA	0.342									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1		NA																	0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(1198-1200)gctfs		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130686064_130686065insAGTT	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	Exception_encountered	3.37:g.130686064_130686065insAGTT	ENSP00000427461:p.Ala400fs	False	False		Somatic	0				ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.A395fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.A384fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.A434fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.A345fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.A400fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.A384fs	p.A400fs			WXS	Illumina HiSeq	Phase_I	P98194	AT2C1_HUMAN			15	1748_1749	+			400					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Ins	INS	ENST00000510168.1	37	c.1198_1199insAGTT	CCDS46914.1																																																																																				0.342	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	NM_001001486		3:130686064
MED12L	116931	broad.mit.edu	37	3	150883771	150883772	+	Splice_Site	INS	-	-	TAATGAGGCCAAAAATAAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:150883771_150883772insTAATGAGGCCAAAAATAAC	ENST00000474524.1	+	10	1532		c.e10+2		MED12L_ENST00000422248.2_Splice_Site|MED12L_ENST00000309237.4_Splice_Site|MED12L_ENST00000273432.4_Splice_Site	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like							mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACCAAGAGGTAGTTAATTTTT	0.337																																						ENST00000474524.1		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.e10+2		mediator complex subunit 12-like																																				SO:0001630	splice_region_variant	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150883771_150883772insTAATGAGGCCAAAAATAAC	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1494+2->TAATGAGGCCAAAAATAAC	3.37:g.150883771_150883772insTAATGAGGCCAAAAATAAC		False	False		Somatic	0				MED12L_ENST00000273432.4_Splice_Site|MED12L_ENST00000309237.4_Splice_Site|MED12L_ENST00000422248.2_Splice_Site		NM_053002.4	NP_443728.3	WXS	Illumina HiSeq	Phase_I	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		10	1532	+			NA					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Splice_Site	INS	ENST00000474524.1	37		CCDS33876.1																																																																																				0.337	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	0	NM_053002	Intron	3:150883771
RSRC1	51319	broad.mit.edu	37	3	157921019	157921020	+	Frame_Shift_Ins	INS	-	-	GTAAGCAGATTTTG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:157921019_157921020insGTAAGCAGATTTTG	ENST00000295930.3	+	4	641_642	c.479_480insGTAAGCAGATTTTG	c.(478-483)cataacfs	p.HN160fs	RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000475278.2_Frame_Shift_Ins_p.HN160fs|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000480820.1_Frame_Shift_Ins_p.HN160fs|RSRC1_ENST00000496268.1_3'UTR	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	160					mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			aaggaATTACATAACATCAAAC	0.411																																						ENST00000295930.3		NA																	0				cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18						c.(478-483)cataacfs		arginine/serine-rich coiled-coil 1																																				SO:0001589	frameshift_variant	51319				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding	g.chr3:157921019_157921020insGTAAGCAGATTTTG	AF208853	CCDS3181.1, CCDS63822.1	3q25.32	2009-09-09			ENSG00000174891	ENSG00000174891			24152	protein-coding gene	gene with protein product	"""splicing factor, arginine/serine-rich 21"""	613352				15798186, 19065146	Standard	NM_001271838		Approved	MGC12197, BM-011, SRrp53, SFRS21	uc003fbu.2	Q96IZ7	OTTHUMG00000158758	Exception_encountered	3.37:g.157921019_157921020insGTAAGCAGATTTTG	ENSP00000295930:p.His160fs	False	False		Somatic	0				RSRC1_ENST00000475278.2_Frame_Shift_Ins_p.HN160fs|RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000496268.1_3'UTR|RSRC1_ENST00000480820.1_Frame_Shift_Ins_p.HN160fs|RSRC1_ENST00000464171.1_Intron	p.HN160fs	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	WXS	Illumina HiSeq	Phase_I	Q96IZ7	RSRC1_HUMAN	Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)		4	641_642	+			160					A8K2R9|Q96QK2|Q9NZE5	Frame_Shift_Ins	INS	ENST00000295930.3	37	c.479_480insGTAAGCAGATTTTG	CCDS3181.1																																																																																				0.411	RSRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352063.2	0	NM_016625		3:157921019
SI	6476	broad.mit.edu	37	3	164783214	164783215	+	Frame_Shift_Ins	INS	-	-	ATGTAAGAAATTATTTT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:164783214_164783215insATGTAAGAAATTATTTT	ENST00000264382.3	-	7	703_704	c.641_642insAAAATAATTTCTTACAT	c.(640-642)gacfs	p.D214fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	214	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAATGCTGGTGTCAAACCTGCA	0.302										HNSCC(35;0.089)																												ENST00000264382.3		NA																	0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(640-642)gacfs		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)																																			SO:0001589	frameshift_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164783214_164783215insATGTAAGAAATTATTTT	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.641_642insAAAATAATTTCTTACAT	3.37:g.164783214_164783215insATGTAAGAAATTATTTT	ENSP00000264382:p.Asp214fs	False	False	HNSCC(35;0.089)	Somatic	0					p.D214fs	NM_001041.3	NP_001032.2	WXS	Illumina HiSeq	Phase_I	P14410	SUIS_HUMAN			7	703_704	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	214			Isomaltase.		A2RUC3|Q1JQ80|Q1RMC2	Frame_Shift_Ins	INS	ENST00000264382.3	37	c.641_642insAAAATAATTTCTTACAT	CCDS3196.1																																																																																				0.302	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	0	NM_001041		3:164783214
DHX15	1665	broad.mit.edu	37	4	24578203	24578204	+	In_Frame_Ins	INS	-	-	CGATAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:24578203_24578204insCGATAC	ENST00000336812.4	-	2	325_326	c.169_170insGTATCG	c.(169-171)aag>aGTATCGag	p.57_57K>SIE		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	57					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				ctccttctccttttctttctcc	0.48																																						ENST00000336812.4		NA																	0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30						c.(169-171)aag>aGTATCGag		DEAH (Asp-Glu-Ala-His) box helicase 15																																				SO:0001652	inframe_insertion	1665				mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr4:24578203_24578204insCGATAC	AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.169_170insGTATCG	4.37:g.24578203_24578204insCGATAC	ENSP00000336741:p.Lys57delinsSerIleGlu	True	False		Somatic	0					p.57_57K>SIE	NM_001358.2	NP_001349.2	WXS	Illumina HiSeq	Phase_I	O43143	DHX15_HUMAN			2	325_326	-		Breast(46;0.0503)	57					Q9NQT7	In_Frame_Ins	INS	ENST00000336812.4	37	c.169_170insGTATCG	CCDS33966.1																																																																																				0.480	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360143.1	0	NM_001358		4:24578203
TBC1D1	23216	broad.mit.edu	37	4	37962609	37962610	+	Intron	DEL	AT	AT	-	rs199908908|rs200376306	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:37962609_37962610delAT	ENST00000261439.4	+	3	772				PTTG2_ENST00000504686.1_Frame_Shift_Del_p.H185fs|TBC1D1_ENST00000508802.1_Intron	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1						membrane organization (GO:0061024)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)|nucleus (GO:0005634)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTTCAAGCATTCTGTCGACC	0.441														72	0.014377	0.0129	0.0173	5008	,	,		19631	0.001		0.0189	False		,,,				2504	0.0235					ENST00000504686.1		NA																	0				breast(1)|endometrium(1)|lung(4)|skin(1)	7						c.(553-555)catfs		pituitary tumor-transforming 2			,	57,4209		0,57,2076					,	1.4	0.0			194	116,8138		1,114,4012	no	intron,frameshift	PTTG2,TBC1D1	NM_015173.2,NM_006607.2	,	1,171,6088	A1A1,A1R,RR		1.4054,1.3361,1.3818	,	,		173,12347				SO:0001627	intron_variant	10744				chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding	g.chr4:37962609_37962610delAT	AB029031	CCDS33972.1, CCDS58897.1	4p14	2013-07-09			ENSG00000065882	ENSG00000065882			11578	protein-coding gene	gene with protein product		609850				10965142, 18258599	Standard	NM_015173		Approved	TBC, TBC1, KIAA1108	uc003gtb.3	Q86TI0	OTTHUMG00000150302	ENST00000261439.4:c.418-53520AT>-	4.37:g.37962609_37962610delAT		False	False		Somatic	1				TBC1D1_ENST00000508802.1_Intron|TBC1D1_ENST00000261439.4_Intron	p.H185fs	NM_006607.2	NP_006598.2	WXS	Illumina HiSeq	Phase_I	Q9NZH5	PTTG2_HUMAN			1	554_555	+			0					B7Z3D9|E9PGH8|Q96K82|Q9UPP4	Frame_Shift_Del	DEL	ENST00000261439.4	37	c.554_555delAT	CCDS33972.1																																																																																				0.441	TBC1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317443.2	0	NM_015173		4:37962609
RUFY3	22902	broad.mit.edu	37	4	71629301	71629302	+	Frame_Shift_Ins	INS	-	-	AGGTTATAAGA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:71629301_71629302insAGGTTATAAGA	ENST00000226328.4	+	3	948_949	c.385_386insAGGTTATAAGA	c.(385-387)ttcfs	p.F129fs	RUFY3_ENST00000417478.2_Frame_Shift_Ins_p.F189fs|RUFY3_ENST00000536664.1_Frame_Shift_Ins_p.F113fs|RUFY3_ENST00000381006.3_Frame_Shift_Ins_p.F129fs|RUFY3_ENST00000502653.1_Frame_Shift_Ins_p.F76fs	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	129	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.				negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AAATAAATCCTTCTGGGGGCCT	0.371																																						ENST00000226328.4		NA																	0				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16						c.(385-387)ttcfs		RUN and FYVE domain containing 3																																				SO:0001589	frameshift_variant	22902				negative regulation of axonogenesis	filopodium|growth cone		g.chr4:71629301_71629302insAGGTTATAAGA	AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910	Exception_encountered	4.37:g.71629301_71629302insAGGTTATAAGA	ENSP00000226328:p.Phe129fs	False	False		Somatic	0				RUFY3_ENST00000536664.1_Frame_Shift_Ins_p.F113fs|RUFY3_ENST00000381006.3_Frame_Shift_Ins_p.F129fs|RUFY3_ENST00000417478.2_Frame_Shift_Ins_p.F189fs|RUFY3_ENST00000502653.1_Frame_Shift_Ins_p.F76fs	p.F129fs	NM_014961.3	NP_055776.1	WXS	Illumina HiSeq	Phase_I	Q7L099	RUFY3_HUMAN	Lung(101;0.235)		3	948_949	+		all_hematologic(202;0.248)	129			RUN.		B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Frame_Shift_Ins	INS	ENST00000226328.4	37	c.385_386insAGGTTATAAGA	CCDS3547.1																																																																																				0.371	RUFY3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252161.2	0	NM_014961		4:71629301
ANKRD17	26057	broad.mit.edu	37	4	74124072	74124083	+	In_Frame_Del	DEL	CCGCCTCCACCG	CCGCCTCCACCG	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CCGCCTCCACCG	CCGCCTCCACCG	-	-	CCGCCTCCACCG	CCGCCTCCACCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:74124072_74124083delCCGCCTCCACCG	ENST00000358602.4	-	1	419_430	c.303_314delCGGTGGAGGCGG	c.(301-315)ggcggtggaggcgga>gga	p.101_105GGGGG>G	RP11-692D12.1_ENST00000502790.1_RNA|ANKRD17_ENST00000330838.6_In_Frame_Del_p.101_105GGGGG>G	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	101	Gly-rich.				blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			gccgccacctccgcctccaccgccgcctccac	0.651																																						ENST00000358602.4		NA																	0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(301-315)ggcggtggaggcgga>gga		ankyrin repeat domain 17			,	57,4193		9,39,2077					,	-2.3	0.0			47	135,8087		31,73,4007	no	coding,coding	ANKRD17	NM_198889.1,NM_032217.3	,	40,112,6084	A1A1,A1R,RR		1.6419,1.3412,1.5394	,	,		192,12280				SO:0001651	inframe_deletion	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:74124072_74124083delCCGCCTCCACCG	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.303_314delCGGTGGAGGCGG	4.37:g.74124072_74124083delCCGCCTCCACCG	ENSP00000351416:p.Gly105_Gly108del	False	False		Somatic	1				ANKRD17_ENST00000330838.6_In_Frame_Del_p.101_105GGGGG>G	p.101_105GGGGG>G	NM_032217.3	NP_115593.3	WXS	Illumina HiSeq	Phase_I	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		1	419_430	-	Breast(15;0.000295)		101			Gly-rich.		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	In_Frame_Del	DEL	ENST00000358602.4	37	c.303_314delCGGTGGAGGCGG	CCDS34004.1																																																																																				0.651	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	0	NM_032217		4:74124072
ARHGAP24	83478	broad.mit.edu	37	4	86915838	86915839	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:86915838_86915839insA	ENST00000395184.1	+	9	1497_1498	c.1031_1032insA	c.(1030-1035)agcaacfs	p.SN344fs	ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.SN251fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.SN249fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	344					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGAGTGAGCAACAACAATG	0.47																																						ENST00000395184.1		NA																	0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1030-1035)agcaacfs		Rho GTPase activating protein 24																																				SO:0001589	frameshift_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86915838_86915839insA	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	Exception_encountered	4.37:g.86915838_86915839insA	ENSP00000378611:p.Ser344fs	True	False		Somatic	0				ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.SN249fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.SN251fs	p.SN344fs	NM_001025616.2	NP_001020787.2	WXS	Illumina HiSeq	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1497_1498	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	344					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Frame_Shift_Ins	INS	ENST00000395184.1	37	c.1031_1032insA	CCDS34025.1																																																																																				0.470	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	0	NM_031305		4:86915838
ARHGAP24	83478	broad.mit.edu	37	4	86915840	86915841	+	Frame_Shift_Ins	INS	-	-	GTTTTTATTTATTTCT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:86915840_86915841insGTTTTTATTTATTTCT	ENST00000395184.1	+	9	1499_1500	c.1033_1034insGTTTTTATTTATTTCT	c.(1033-1035)aacfs	p.N345fs	ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.N252fs|ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.N250fs	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	345					activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of ruffle assembly (GO:1900028)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|wound healing, spreading of epidermal cells (GO:0035313)	cell projection (GO:0042995)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)	Rac GTPase activator activity (GO:0030675)			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGGAGTGAGCAACAACAATGAA	0.47																																						ENST00000395184.1		NA																	0				breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24						c.(1033-1035)aacfs		Rho GTPase activating protein 24																																				SO:0001589	frameshift_variant	83478				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding	g.chr4:86915840_86915841insGTTTTTATTTATTTCT	AK091196	CCDS3611.1, CCDS34025.1, CCDS43246.1	4q22.1	2013-01-10			ENSG00000138639	ENSG00000138639		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	25361	protein-coding gene	gene with protein product		610586				11230166, 15254788	Standard	NM_001042669		Approved	DKFZP564B1162, FLJ33877, FilGAP	uc003hpk.3	Q8N264	OTTHUMG00000130427	Exception_encountered	4.37:g.86915840_86915841insGTTTTTATTTATTTCT	ENSP00000378611:p.Asn345fs	True	False		Somatic	0				ARHGAP24_ENST00000395183.2_Frame_Shift_Ins_p.N250fs|ARHGAP24_ENST00000264343.4_Frame_Shift_Ins_p.N252fs	p.N345fs	NM_001025616.2	NP_001020787.2	WXS	Illumina HiSeq	Phase_I	Q8N264	RHG24_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000571)	9	1499_1500	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	345					Q4KMG1|Q6ZNV3|Q86TI5|Q86WE4|Q9H0T6	Frame_Shift_Ins	INS	ENST00000395184.1	37	c.1033_1034insGTTTTTATTTATTTCT	CCDS34025.1																																																																																				0.470	ARHGAP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252815.2	0	NM_031305		4:86915840
ETFDH	2110	broad.mit.edu	37	4	159627479	159627480	+	Frame_Shift_Ins	INS	-	-	TTAAAAACATGAAATGTTAAGTG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:159627479_159627480insTTAAAAACATGAAATGTTAAGTG	ENST00000511912.1	+	11	1756_1757	c.1424_1425insTTAAAAACATGAAATGTTAAGTG	c.(1423-1428)tactggfs	p.W476fs	ETFDH_ENST00000307738.5_Frame_Shift_Ins_p.W429fs	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	476					cellular metabolic process (GO:0044237)|electron transport chain (GO:0022900)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	integral component of mitochondrial inner membrane (GO:0031305)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|electron-transferring-flavoprotein dehydrogenase activity (GO:0004174)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, oxidizing metal ions with flavin as acceptor (GO:0043783)|quinone binding (GO:0048038)|ubiquinone binding (GO:0048039)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAATCTTTTACTGGATATTGA	0.391																																						ENST00000307738.5		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	GRCh37	CM050251	ETFDH	M		c.(1282-1287)tactggfs		electron-transferring-flavoprotein dehydrogenase																																				SO:0001589	frameshift_variant	2110				fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding	g.chr4:159627479_159627480insTTAAAAACATGAAATGTTAAGTG	S69232	CCDS3800.1, CCDS64090.1	4q32-q35	2008-08-26			ENSG00000171503	ENSG00000171503			3483	protein-coding gene	gene with protein product		231675					Standard	NM_004453		Approved	ETFQO	uc003iqb.3	Q16134	OTTHUMG00000161684	Exception_encountered	4.37:g.159627479_159627480insTTAAAAACATGAAATGTTAAGTG	ENSP00000426638:p.Trp476fs	False	False		Somatic	0				ETFDH_ENST00000511912.1_Frame_Shift_Ins_p.W476fs	p.W429fs			WXS	Illumina HiSeq	Phase_I	Q16134	ETFD_HUMAN		COAD - Colon adenocarcinoma(41;0.0172)	10	1401_1402	+	all_hematologic(180;0.24)	Renal(120;0.0458)	476					B4E3R9|J3KND9|Q7Z347	Frame_Shift_Ins	INS	ENST00000511912.1	37	c.1283_1284insTTAAAAACATGAAATGTTAAGTG	CCDS3800.1																																																																																				0.391	ETFDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365718.2	0			4:159627479
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	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
ACOT12	134526	broad.mit.edu	37	5	80640766	80640767	+	Frame_Shift_Ins	INS	-	-	ACAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:80640766_80640767insACAA	ENST00000307624.3	-	8	895_896	c.867_868insTTGT	c.(865-870)aatgctfs	p.A290fs	ACOT12_ENST00000508234.1_5'Flank	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	290	Acyl coenzyme A hydrolase 2.				acetyl-CoA metabolic process (GO:0006084)|acyl-CoA metabolic process (GO:0006637)|fatty acid metabolic process (GO:0006631)|pyruvate metabolic process (GO:0006090)	cytosol (GO:0005829)	acetyl-CoA hydrolase activity (GO:0003986)|ATP binding (GO:0005524)|carboxylic ester hydrolase activity (GO:0052689)|lipid binding (GO:0008289)	p.A290S(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCATCAGCAGCATTGTAAATGA	0.47																																						ENST00000307624.3		NA																	1	Substitution - Missense(1)	p.A290S(1)	lung(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23						c.(865-870)aatgctfs		acyl-CoA thioesterase 12																																				SO:0001589	frameshift_variant	134526				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity	g.chr5:80640766_80640767insACAA	AB078619	CCDS4055.1	5q14.1	2011-09-13			ENSG00000172497	ENSG00000172497		"""Acyl CoA thioesterases"", ""StAR-related lipid transfer (START) domain containing"""	24436	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 15"""	614315				16103133, 16940157	Standard	NM_130767		Approved	Cach, THEAL, STARD15	uc003khl.4	Q8WYK0	OTTHUMG00000131305	ENST00000307624.3:c.867_868insTTGT	5.37:g.80640766_80640767insACAA	ENSP00000303246:p.Ala290fs	False	False		Somatic	0					p.A290fs	NM_130767.2	NP_570123.1	WXS	Illumina HiSeq	Phase_I	Q8WYK0	ACO12_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)	8	895_896	-		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)	290			Acyl coenzyme A hydrolase 2.		B3KVK9|Q5FWE9	Frame_Shift_Ins	INS	ENST00000307624.3	37	c.867_868insTTGT	CCDS4055.1																																																																																				0.470	ACOT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254074.1	0	NM_130767		5:80640766
GPR98	84059	broad.mit.edu	37	5	90086832	90086833	+	Frame_Shift_Ins	INS	-	-	AAACTCAACAAAG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:90086832_90086833insAAACTCAACAAAG	ENST00000405460.2	+	70	14282_14283	c.14186_14187insAAACTCAACAAAG	c.(14185-14190)gattatfs	p.DY4729fs	GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4729	Calx-beta 32. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATAGAGGAAGATTATGTGATCC	0.441																																						ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(14185-14190)gattatfs		G protein-coupled receptor 98																																				SO:0001589	frameshift_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:90086832_90086833insAAACTCAACAAAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	Exception_encountered	5.37:g.90086832_90086833insAAACTCAACAAAG	ENSP00000384582:p.Asp4729fs	False	False		Somatic	0				GPR98_ENST00000425867.2_Frame_Shift_Ins_p.DY390fs	p.DY4729fs	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	70	14282_14283	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	4729			Calx-beta 32.		O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Ins	INS	ENST00000405460.2	37	c.14186_14187insAAACTCAACAAAG	CCDS47246.1																																																																																				0.441	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:90086832
BRD8	10902	broad.mit.edu	37	5	137502365	137502366	+	In_Frame_Ins	INS	-	-	CGTCCC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:137502365_137502366insCGTCCC	ENST00000254900.5	-	10	1209_1210	c.838_839insGGGACG	c.(838-840)aca>aGGGACGca	p.280_280T>RDA	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000230901.5_In_Frame_Ins_p.353_353T>RDA|BRD8_ENST00000402931.1_In_Frame_Ins_p.280_280T>RDA|BRD8_ENST00000455658.2_In_Frame_Ins_p.239_239T>RDA|BRD8_ENST00000411594.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	280					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGCAAGAGGTGTGGTGAACTGT	0.46																																						ENST00000254900.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(838-840)aca>aGGGACGca		bromodomain containing 8																																				SO:0001652	inframe_insertion	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137502365_137502366insCGTCCC	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.838_839insGGGACG	5.37:g.137502365_137502366insCGTCCC	ENSP00000254900:p.Thr280delinsArgAspAla	False	False		Somatic	0				BRD8_ENST00000230901.5_In_Frame_Ins_p.353_353T>RDA|BRD8_ENST00000455658.2_In_Frame_Ins_p.239_239T>RDA|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_In_Frame_Ins_p.280_280T>RDA	p.280_280T>RDA	NM_139199.1	NP_631938.1	WXS	Illumina HiSeq	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	1209_1210	-			280					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	In_Frame_Ins	INS	ENST00000254900.5	37	c.838_839insGGGACG	CCDS4198.1																																																																																				0.460	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	0	NM_006696		5:137502365
BRD8	10902	broad.mit.edu	37	5	137502367	137502368	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:137502367_137502368insA	ENST00000254900.5	-	10	1207_1208	c.836_837insT	c.(835-837)accfs	p.T279fs	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000230901.5_Frame_Shift_Ins_p.T352fs|BRD8_ENST00000402931.1_Frame_Shift_Ins_p.T279fs|BRD8_ENST00000455658.2_Frame_Shift_Ins_p.T238fs|BRD8_ENST00000411594.2_Intron	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	279					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGAGGTGTGGTGAACTGTGT	0.455																																						ENST00000254900.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35						c.(835-837)accfs		bromodomain containing 8																																				SO:0001589	frameshift_variant	10902				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity	g.chr5:137502367_137502368insA	AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.836_837insT	5.37:g.137502367_137502368insA	ENSP00000254900:p.Thr279fs	False	False		Somatic	0				BRD8_ENST00000230901.5_Frame_Shift_Ins_p.T352fs|BRD8_ENST00000455658.2_Frame_Shift_Ins_p.T238fs|BRD8_ENST00000411594.2_Intron|BRD8_ENST00000402931.1_Frame_Shift_Ins_p.T279fs	p.T279fs	NM_139199.1	NP_631938.1	WXS	Illumina HiSeq	Phase_I	Q9H0E9	BRD8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		10	1207_1208	-			279					O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Frame_Shift_Ins	INS	ENST00000254900.5	37	c.836_837insT	CCDS4198.1																																																																																				0.455	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251282.3	0	NM_006696		5:137502367
TCERG1	10915	broad.mit.edu	37	5	145838618	145838683	+	In_Frame_Del	DEL	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-	rs532984875|rs111965890|rs112548582|rs111879925|rs569890952|rs187468589|rs566609153|rs570448344|rs183780634|rs200699212|rs113361353|rs546601229	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	-	-	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:145838618_145838683delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	ENST00000296702.5	+	4	648_713	c.610_675delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	c.(610-675)caggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagccdel	p.QAQAQAQAQAQAQAQAQAQAQA204del	TCERG1_ENST00000394421.2_In_Frame_Del_p.QAQAQAQAQAQAQAQAQAQAQA204del	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	204	Ala/Gln-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription coactivator activity (GO:0003713)	p.Q212Q(1)|p.A211A(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ggcacaagctcaggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagcccaggcccagg	0.68																																						ENST00000296702.5		NA																	2	Substitution - coding silent(2)	p.Q212Q(1)|p.A211A(1)	central_nervous_system(2)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46						c.(610-675)caggcccaggctcaggctcaggcccaggcccaggcccaggcccaggcccaggcccaagcccaagccdel		transcription elongation regulator 1																																				SO:0001651	inframe_deletion	10915				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity	g.chr5:145838618_145838683delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	AF017789	CCDS4282.1, CCDS43379.1	5q31	2010-01-25	2002-01-24	2002-01-25	ENSG00000113649	ENSG00000113649			15630	protein-coding gene	gene with protein product	"""transcription factor CA150"", ""co-activator of 150 kDa"", ""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"", ""TATA box-binding protein-associated factor 2S"""	605409	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, S, 150kD"""	TAF2S		9315662, 11003711	Standard	XM_005268365		Approved	CA150, Urn1	uc003lob.3	O14776	OTTHUMG00000129683	ENST00000296702.5:c.610_675delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	5.37:g.145838618_145838683delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	ENSP00000296702:p.Gln204_Ala225del	True	False		Somatic	1				TCERG1_ENST00000394421.2_In_Frame_Del_p.QAQAQAQAQAQAQAQAQAQAQA204del	p.QAQAQAQAQAQAQAQAQAQAQA204del	NM_006706.3	NP_006697.2	WXS	Illumina HiSeq	Phase_I	O14776	TCRG1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		4	648_713	+		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	204			Ala/Gln-rich.		Q2NKN2|Q59EA1	In_Frame_Del	DEL	ENST00000296702.5	37	c.610_675delCAGGCCCAGGCTCAGGCTCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAGGCCCAAGCCCAAGCC	CCDS4282.1																																																																																				0.680	TCERG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251886.1	0	NM_001040006		5:145838618
HAVCR1	26762	broad.mit.edu	37	5	156479558	156479572	+	In_Frame_Del	DEL	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	-	rs386693994|rs139041445|rs6149307|rs10068551|rs141023871|rs77147640|rs376729615|rs183130208|rs2862716	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	-	-	TTGGAACAGTCGTCA	TTGGAACAGTCGTCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:156479558_156479572delTTGGAACAGTCGTCA	ENST00000339252.3	-	3	1005_1019	c.473_487delTGACGACTGTTCCAA	c.(472-489)atgacgactgttccaacg>acg	p.MTTVP158del	HAVCR1_ENST00000522693.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000544197.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000425854.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000523175.1_In_Frame_Del_p.MTTVP158del	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T160_V161insT(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGTTGTCGTTGGAACAGTCGTCATTGGAACAGT	0.488														2916	0.582268	0.2579	0.6787	5008	,	,		26558	0.7629		0.6282	False		,,,				2504	0.7188					ENST00000339252.3		NA																	1	Insertion - In frame(1)	p.T160_V161insT(1)	ovary(1)	endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(472-489)atgacgactgttccaacg>acg		hepatitis A virus cellular receptor 1			,,	1966,2046		278,1410,318					,,	-1.5	0.0		dbSNP_127	595	4901,3081		1333,2235,423	no	coding,coding,coding	HAVCR1	NM_012206.2,NM_001173393.1,NM_001099414.1	,,	1611,3645,741	A1A1,A1R,RR		38.5993,49.003,42.7464	,,	,,		6867,5127				SO:0001651	inframe_deletion	26762				interspecies interaction between organisms	integral to membrane	receptor activity	g.chr5:156479558_156479572delTTGGAACAGTCGTCA	AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.473_487delTGACGACTGTTCCAA	5.37:g.156479558_156479572delTTGGAACAGTCGTCA	ENSP00000344844:p.Met158_Pro162del	False	False		Somatic	1				HAVCR1_ENST00000425854.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000522693.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000544197.1_In_Frame_Del_p.MTTVP158del|HAVCR1_ENST00000523175.1_In_Frame_Del_p.MTTVP158del	p.MTTVP158del	NM_012206.2	NP_036338.2	WXS	Illumina HiSeq	Phase_I	Q96D42	HAVR1_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	1005_1019	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	157			11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.		O43656	In_Frame_Del	DEL	ENST00000339252.3	37	c.473_487delTGACGACTGTTCCAA	CCDS43392.1																																																																																				0.488	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1	0			5:156479558
RREB1	6239	broad.mit.edu	37	6	7231788	7231808	+	In_Frame_Del	DEL	GAGGGGCCGGAAAAGGGGGAT	GAGGGGCCGGAAAAGGGGGAT	-	rs35521383	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GAGGGGCCGGAAAAGGGGGAT	GAGGGGCCGGAAAAGGGGGAT	-	-	GAGGGGCCGGAAAAGGGGGAT	GAGGGGCCGGAAAAGGGGGAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:7231788_7231808delGAGGGGCCGGAAAAGGGGGAT	ENST00000349384.6	+	10	3770_3790	c.3456_3476delGAGGGGCCGGAAAAGGGGGAT	c.(3454-3477)aagaggggccggaaaagggggatg>aag	p.RGRKRGM1153del	RREB1_ENST00000379938.2_In_Frame_Del_p.RGRKRGM1153del|RREB1_ENST00000379933.3_In_Frame_Del_p.RGRKRGM1153del|RREB1_ENST00000334984.6_In_Frame_Del_p.RGRKRGM1153del	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1153					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CGTCGAAGAAGAGGGGCCGGAAAAGGGGGATGAGGAGCCGA	0.665																																						ENST00000379938.2		NA																	0				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(3454-3477)aagaggggccggaaaagggggatg>aag		ras responsive element binding protein 1																																				SO:0001651	inframe_deletion	6239				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	g.chr6:7231788_7231808delGAGGGGCCGGAAAAGGGGGAT	U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.3456_3476delGAGGGGCCGGAAAAGGGGGAT	6.37:g.7231788_7231808delGAGGGGCCGGAAAAGGGGGAT	ENSP00000305560:p.Arg1153_Met1159del	True	False		Somatic	1				RREB1_ENST00000334984.6_In_Frame_Del_p.RGRKRGM1153del|RREB1_ENST00000349384.6_In_Frame_Del_p.RGRKRGM1153del|RREB1_ENST00000379933.3_In_Frame_Del_p.RGRKRGM1153del	p.RGRKRGM1153del	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	WXS	Illumina HiSeq	Phase_I	Q92766	RREB1_HUMAN			10	3993_4013	+	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)	1153					A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	In_Frame_Del	DEL	ENST00000349384.6	37	c.3456_3476delGAGGGGCCGGAAAAGGGGGAT	CCDS34336.1																																																																																				0.665	RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1	0			6:7231788
HIST1H4E	8367	broad.mit.edu	37	6	26204947	26204948	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:26204947_26204948insA	ENST00000360441.4	+	1	90_91	c.75_76insA	c.(76-78)aacfs	p.N26fs		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	26					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TCCTGCGAGATAACATCCAGGG	0.584																																						ENST00000360441.4		NA																	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18						c.(76-78)aacfs		histone cluster 1, H4e																																				SO:0001589	frameshift_variant	8367				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26204947_26204948insA	Z80787	CCDS4593.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198518	ENSG00000276966		"""Histones / Replication-dependent"""	4790	protein-coding gene	gene with protein product		602830	"""H4 histone family, member J"", ""histone 1, H4e"""	H4FJ		9119399, 12408966	Standard	NM_003545		Approved	H4/j	uc003ngy.3	P62805	OTTHUMG00000014441	ENST00000360441.4:c.77dupA	6.37:g.26204949_26204949dupA	ENSP00000353624:p.Asn26fs	False	False		Somatic	2					p.N26fs	NM_003545.3	NP_003536.1	WXS	Illumina HiSeq	Phase_I	P62805	H4_HUMAN			1	90_91	+		all_hematologic(11;0.196)	26					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Frame_Shift_Ins	INS	ENST00000360441.4	37	c.75_76insA	CCDS4593.1																																																																																				0.584	HIST1H4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040104.1	0	NM_003545		6:26204947
HIST1H3F	8968	broad.mit.edu	37	6	26250790	26250791	+	In_Frame_Ins	INS	-	-	ACC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:26250790_26250791insACC	ENST00000446824.2	-	1	44_45	c.43_44insGGT	c.(43-45)aaa>aGGTaa	p.15_15K>R*	HIST1H2BH_ENST00000356350.2_5'Flank	NM_021018.2	NP_066298.1	P68431	H31_HUMAN	histone cluster 1, H3f	15					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			lung(6)|urinary_tract(1)	7						GCGCGGGGCTTTGCCGCCAGTG	0.574																																						ENST00000446824.2		NA																	0				lung(6)|urinary_tract(1)	7						c.(43-45)aaa>aGGTaa		histone cluster 1, H3f																																				SO:0001652	inframe_insertion	8968				blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26250790_26250791insACC	Z80786	CCDS4600.1	6p22.1	2011-01-27	2006-10-11	2003-03-14	ENSG00000256316	ENSG00000277775		"""Histones / Replication-dependent"""	4773	protein-coding gene	gene with protein product		602816	"""H3 histone family, member I"", ""histone 1, H3f"""	H3FI		9119399, 12408966	Standard	NM_021018		Approved	H3/i	uc003nhg.1	P68431	OTTHUMG00000014435	ENST00000446824.2:c.43_44insGGT	6.37:g.26250790_26250791insACC	ENSP00000444823:p.Lys15delinsArg*	True	False		Somatic	0					p.15_15K>R*	NM_021018.2	NP_066298.1	WXS	Illumina HiSeq	Phase_I	P68431	H31_HUMAN			1	44_45	-			15					A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	In_Frame_Ins	INS	ENST00000446824.2	37	c.43_44insGGT	CCDS4600.1																																																																																				0.574	HIST1H3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040098.1	0	NM_021018		6:26250790
NKAPL	222698	broad.mit.edu	37	6	28227796	28227797	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:28227796_28227797insT	ENST00000343684.3	+	1	699_700	c.647_648insT	c.(646-651)tctgatfs	p.D217fs	ZKSCAN4_ENST00000423974.2_5'Flank	NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	217	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AATTCTGACTCTGATGATGATA	0.302																																						ENST00000343684.3		NA																	0				breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(646-651)tctgatfs		NFKB activating protein-like																																				SO:0001589	frameshift_variant	222698							g.chr6:28227796_28227797insT	BC038240	CCDS34353.1	6p21.33	2008-02-05	2007-08-16	2007-08-16	ENSG00000189134	ENSG00000189134			21584	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 194"""	C6orf194			Standard	NM_001007531		Approved	bA424I5.1	uc003nkt.4	Q5M9Q1	OTTHUMG00000014517	ENST00000343684.3:c.648dupT	6.37:g.28227797_28227797dupT	ENSP00000345716:p.Asp217fs	True	False		Somatic	1					p.D217fs	NM_001007531.1	NP_001007532.1	WXS	Illumina HiSeq	Phase_I	Q5M9Q1	NKAPL_HUMAN			1	699_700	+			217			Lys-rich.		Q3MIV1|Q9H4Q7	Frame_Shift_Ins	INS	ENST00000343684.3	37	c.647_648insT	CCDS34353.1																																																																																				0.302	NKAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040185.1	0			6:28227796
ZBED9	114821	broad.mit.edu	37	6	28539912	28539913	+	In_Frame_Ins	INS	-	-	AAATATTGATATGTAAGG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:28539912_28539913insAAATATTGATATGTAAGG	ENST00000452236.2	-	4	4370_4371	c.3753_3754insCCTTACATATCAATATTT	c.(3751-3756)ataaaa>ataCCTTACATATCAATATTTaaa	p.1251_1252IK>IPYISIFK		NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tttttagcttttatccaaaatg	0.376																																						ENST00000452236.2		NA																	0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(3751-3756)ataaaa>ataCCTTACATATCAATATTTaaa		SCAN domain containing 3																																				SO:0001652	inframe_insertion	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539912_28539913insAAATATTGATATGTAAGG																												ENST00000452236.2:c.3753_3754insCCTTACATATCAATATTT	6.37:g.28539912_28539913insAAATATTGATATGTAAGG	ENSP00000395259:p.Ile1251_Lys1252insProTyrIleSerIlePhe	True	False		Somatic	0					p.1251_1252IK>IPYISIFK	NM_052923.1	NP_443155.1	WXS	Illumina HiSeq	Phase_I	Q6R2W3	SCND3_HUMAN			4	4370_4371	-			1251						In_Frame_Ins	INS	ENST00000452236.2	37	c.3753_3754insCCTTACATATCAATATTT	CCDS34355.1																																																																																				0.376	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0			6:28539912
RWDD1	51389	broad.mit.edu	37	6	116910112	116910113	+	Frame_Shift_Ins	INS	-	-	TCCATACATTTATAATAATTACTAATTTGGTTAT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:116910112_116910113insTCCATACATTTATAATAATTACTAATTTGGTTAT	ENST00000466444.2	+	4	594_595	c.378_379insTCCATACATTTATAATAATTACTAATTTGGTTAT	c.(379-381)aaafs	p.K127fs	RWDD1_ENST00000487832.2_Frame_Shift_Ins_p.K31fs|RWDD1_ENST00000392526.1_Frame_Shift_Ins_p.K31fs	NM_015952.2	NP_057036.2	Q9H446	RWDD1_HUMAN	RWD domain containing 1	127				TRREEEKKQKE -> LEERRKNKR (in Ref. 1; AAD27733). {ECO:0000305}.				p.K126N(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)		aagaagaaaagaaacaaaaaga	0.292																																						ENST00000466444.2		NA																	1	Substitution - Missense(1)	p.K126N(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)	12						c.(379-381)aaafs		RWD domain containing 1																																				SO:0001589	frameshift_variant	51389						protein binding	g.chr6:116910112_116910113insTCCATACATTTATAATAATTACTAATTTGGTTAT	AF092134	CCDS34520.1, CCDS43496.1	6q13-q22.33	2012-12-07			ENSG00000111832	ENSG00000111832			20993	protein-coding gene	gene with protein product						10810093	Standard	NM_016104		Approved	PTD013	uc003pxd.3	Q9H446	OTTHUMG00000015441	Exception_encountered	6.37:g.116910112_116910113insTCCATACATTTATAATAATTACTAATTTGGTTAT	ENSP00000420357:p.Lys127fs	True	False		Somatic	0				RWDD1_ENST00000392526.1_Frame_Shift_Ins_p.K31fs|RWDD1_ENST00000487832.2_Frame_Shift_Ins_p.K31fs	p.K127fs	NM_015952.2	NP_057036.2	WXS	Illumina HiSeq	Phase_I	Q9H446	RWDD1_HUMAN		GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.0312)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)|Epithelial(106;0.161)	4	594_595	+		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)	127	TRREEEKKQKE -> LEERRKNKR (in Ref. 1; AAD27733).				A8K3W2|A8MT24|Q9Y313|Q9Y6B3	Frame_Shift_Ins	INS	ENST00000466444.2	37	c.378_379insTCCATACATTTATAATAATTACTAATTTGGTTAT	CCDS34520.1																																																																																				0.292	RWDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041952.2	0	NM_015952		6:116910112
RMND1	55005	broad.mit.edu	37	6	151766776	151766777	+	In_Frame_Ins	INS	-	-	GGG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:151766776_151766777insGGG	ENST00000367303.4	-	2	292_293	c.170_171insCCC	c.(169-171)aaa>aaCCCa	p.57_57K>NP	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)aaa>aaCCCa		required for meiotic nuclear division 1 homolog (S. cerevisiae)																																				SO:0001652	inframe_insertion	55005							g.chr6:151766776_151766777insGGG	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_171insCCC	6.37:g.151766776_151766777insGGG	ENSP00000356272:p.Lys57delinsAsnPro	True	False		Somatic	0				RMND1_ENST00000491268.1_5'UTR	p.57_57K>NP	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	In_Frame_Ins	INS	ENST00000367303.4	37	c.170_171insCCC	CCDS5232.1																																																																																				0.386	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	0	NM_017909		6:151766776
RMND1	55005	broad.mit.edu	37	6	151766777	151766778	+	Frame_Shift_Ins	INS	-	-	TCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:151766777_151766778insTCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG	ENST00000367303.4	-	2	291_292	c.169_170insCAGATGAGAAATGCCTCTTTAATATTTTTATAAACCATTTAGA	c.(169-171)aaafs	p.K57fs	RMND1_ENST00000491268.1_De_novo_Start_OutOfFrame|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)		ACTAGCTGTTTTATCAGGAAGG	0.381																																						ENST00000491268.1		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								required for meiotic nuclear division 1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	55005							g.chr6:151766777_151766778insTCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG	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.169_170insCAGATGAGAAATGCCTCTTTAATATTTTTATAAACCATTTAGA	6.37:g.151766777_151766778insTCTAAATGGTTTATAAAAATATTAAAGAGGCATTTCTCATCTG	ENSP00000356272:p.Lys57fs	True	False		Somatic	0				RMND1_ENST00000367303.4_Frame_Shift_Ins_p.K57fs				WXS	Illumina HiSeq	Phase_I	Q9NWS8	RMND1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)	0	182_183	-		Ovarian(120;0.125)	NA					A8K8H4|Q0VDG6|Q5SZ48|Q5SZ83|Q6NSC5|Q96EN7	Translation_Start_Site	INS	ENST00000367303.4	37		CCDS5232.1																																																																																				0.381	RMND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042718.2	0	NM_017909		6:151766777
LPA	4018	broad.mit.edu	37	6	161020669	161020670	+	Frame_Shift_Ins	INS	-	-	ATAAGCGAAGGAAGGG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	ENST00000316300.5	-	20	3193_3194	c.3149_3150insCCCTTCCTTCGCTTAT	c.(3148-3150)gggfs	p.-1050fs	LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs			P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AGTCCTGTACCCCGGGGGTTTC	0.436																																						ENST00000316300.5		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107						c.(3148-3150)gggfs		lipoprotein, Lp(a)	Aminocaproic Acid(DB00513)																																			SO:0001589	frameshift_variant	4018				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	g.chr6:161020669_161020670insATAAGCGAAGGAAGGG	X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3149_3150insCCCTTCCTTCGCTTAT	6.37:g.161020669_161020670insATAAGCGAAGGAAGGG	ENSP00000321334:p.Gly1050fs	True	False		Somatic	0				LPA_ENST00000447678.1_Frame_Shift_Ins_p.-1050fs	p.-1050fs			WXS	Illumina HiSeq	Phase_I	P08519	APOA_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	20	3193_3194	-		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)	NA					Q5VTD7|Q9UD88	Frame_Shift_Ins	INS	ENST00000316300.5	37	c.3149_3150insCCCTTCCTTCGCTTAT	CCDS43523.1																																																																																				0.436	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	0	NM_005577		6:161020669
COL28A1	340267	broad.mit.edu	37	7	7398398	7398399	+	Frame_Shift_Ins	INS	-	-	CAATACAAATACAGCACTAT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:7398398_7398399insCAATACAAATACAGCACTAT	ENST00000399429.3	-	35	3383_3384	c.3243_3244insATAGTGCTGTATTTGTATTG	c.(3241-3246)tgtggtfs	p.G1082fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	1082	BPTI/Kunitz inhibitor. {ECO:0000255|PROSITE-ProRule:PRU00031}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACATATTCACCACAGTTTCCAG	0.391																																						ENST00000399429.3		NA																	0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42						c.(3241-3246)tgtggtfs		collagen, type XXVIII, alpha 1																																				SO:0001589	frameshift_variant	340267				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity	g.chr7:7398398_7398399insCAATACAAATACAGCACTAT	AJ890451	CCDS43553.1	7p21.3	2013-01-16			ENSG00000215018	ENSG00000215018		"""Collagens"""	22442	protein-coding gene	gene with protein product		609996				16330543	Standard	NM_001037763		Approved		uc003src.1	Q2UY09	OTTHUMG00000150034	ENST00000399429.3:c.3243_3244insATAGTGCTGTATTTGTATTG	7.37:g.7398398_7398399insCAATACAAATACAGCACTAT	ENSP00000382356:p.Gly1082fs	False	False		Somatic	0					p.G1082fs	NM_001037763.2	NP_001032852.2	WXS	Illumina HiSeq	Phase_I	Q2UY09	COSA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)	35	3383_3384	-		Ovarian(82;0.0789)	1082			BPTI/Kunitz inhibitor.		A4D101|A4D106|A4D107|A8MVR2|B9EGX9|Q2UY07|Q2UY08	Frame_Shift_Ins	INS	ENST00000399429.3	37	c.3243_3244insATAGTGCTGTATTTGTATTG	CCDS43553.1																																																																																				0.391	COL28A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315899.1	0	NM_001037763		7:7398398
TAX1BP1	8887	broad.mit.edu	37	7	27824905	27824906	+	Frame_Shift_Ins	INS	-	-	ATTTGCATATCTTTAAGAAAACTATGTATTC	rs559471004		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:27824905_27824906insATTTGCATATCTTTAAGAAAACTATGTATTC	ENST00000396319.2	+	6	824_825	c.736_737insATTTGCATATCTTTAAGAAAACTATGTATTC	c.(736-738)attfs	p.I246fs	TAX1BP1_ENST00000543117.1_Frame_Shift_Ins_p.I246fs|TAX1BP1_ENST00000433216.2_Frame_Shift_Ins_p.I89fs|TAX1BP1_ENST00000265393.6_Frame_Shift_Ins_p.I246fs|TAX1BP1_ENST00000409980.1_Frame_Shift_Ins_p.I246fs	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	246					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			ACATAAAGCAATTGAAAAAGAA	0.277																																						ENST00000396319.2		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(736-738)attfs		Tax1 (human T-cell leukemia virus type I) binding protein 1																																				SO:0001589	frameshift_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27824905_27824906insATTTGCATATCTTTAAGAAAACTATGTATTC	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	Exception_encountered	7.37:g.27824905_27824906insATTTGCATATCTTTAAGAAAACTATGTATTC	ENSP00000379612:p.Ile246fs	False	False		Somatic	0				TAX1BP1_ENST00000409980.1_Frame_Shift_Ins_p.I246fs|TAX1BP1_ENST00000433216.2_Frame_Shift_Ins_p.I89fs|TAX1BP1_ENST00000265393.6_Frame_Shift_Ins_p.I246fs|TAX1BP1_ENST00000543117.1_Frame_Shift_Ins_p.I246fs	p.I246fs	NM_006024.6	NP_006015.4	WXS	Illumina HiSeq	Phase_I	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		6	824_825	+			246					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Frame_Shift_Ins	INS	ENST00000396319.2	37	c.736_737insATTTGCATATCTTTAAGAAAACTATGTATTC	CCDS5415.1																																																																																				0.277	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	NM_006024		7:27824905
CTTNBP2	83992	broad.mit.edu	37	7	117351641	117351642	+	Frame_Shift_Ins	INS	-	-	ACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA	rs368353006		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:117351641_117351642insACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA	ENST00000160373.3	-	23	5032_5033	c.4941_4942insTTTTATCAATTTAAAGGTATTTGTATCTTGTTGTCCTTGGTTTCTGT	c.(4939-4944)gaagtgfs	p.EV1647fs	CFTR_ENST00000608965.1_Intron	NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1647					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCCAATTCACTTCTTTTGAGT	0.371																																						ENST00000160373.3		NA																	0				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(4939-4944)gaagtgfs		cortactin binding protein 2																																				SO:0001589	frameshift_variant	83992							g.chr7:117351641_117351642insACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4941_4942insTTTTATCAATTTAAAGGTATTTGTATCTTGTTGTCCTTGGTTTCTGT	7.37:g.117351641_117351642insACAGAAACCAAGGACAACAAGATACAAATACCTTTAAATTGATAAAA	ENSP00000160373:p.Glu1647fs	False	False		Somatic	0				CFTR_ENST00000429014.1_Intron	p.EV1647fs	NM_033427.2	NP_219499.1	WXS	Illumina HiSeq	Phase_I	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	23	5032_5033	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		1647					O43389|Q7LG11|Q9C0A5	Frame_Shift_Ins	INS	ENST00000160373.3	37	c.4941_4942insTTTTATCAATTTAAAGGTATTTGTATCTTGTTGTCCTTGGTTTCTGT	CCDS5774.1																																																																																				0.371	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	0	NM_033427		7:117351641
RBM28	55131	broad.mit.edu	37	7	127963635	127963642	+	Frame_Shift_Del	DEL	GCACGAAT	GCACGAAT	-	rs535443818		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GCACGAAT	GCACGAAT	-	-	GCACGAAT	GCACGAAT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:127963635_127963642delGCACGAAT	ENST00000223073.2	-	13	1456_1463	c.1342_1349delATTCGTGC	c.(1342-1350)attcgtgctfs	p.IRA448fs	RBM28_ENST00000481788.1_5'Flank|RBM28_ENST00000415472.2_Frame_Shift_Del_p.IRA307fs	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	448					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCGTCCCAGCACGAATCACTGCAGAA	0.471																																						ENST00000223073.1		NA																	0				breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						c.(1342-1350)attcgtgctfs		RNA binding motif protein 28																																				SO:0001589	frameshift_variant	55131				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	g.chr7:127963635_127963642delGCACGAAT	AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1342_1349delATTCGTGC	7.37:g.127963635_127963642delGCACGAAT	ENSP00000223073:p.Ile448fs	False	False		Somatic	1				RBM28_ENST00000415472.2_Frame_Shift_Del_p.IRA307fs	p.IRA448fs	NM_018077.2	NP_060547.2	WXS	Illumina HiSeq	Phase_I	Q9NW13	RBM28_HUMAN			13	1456_1463	-			448					A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Frame_Shift_Del	DEL	ENST00000223073.2	37	c.1342_1349delATTCGTGC	CCDS5801.1																																																																																				0.471	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	0	NM_018077		7:127963635
OR2A14	135941	broad.mit.edu	37	7	143826730	143826732	+	In_Frame_Del	DEL	CTT	CTT	-	rs66549240|rs34602346	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:143826730_143826732delCTT	ENST00000408899.2	+	1	580_582	c.525_527delCTT	c.(523-528)cacttc>cac	p.F177del		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	177				Missing (in Ref. 2; AAK95081). {ECO:0000305}.		integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AAATCAACCACTTCTTCTGTGAA	0.562														2897	0.578474	0.4652	0.7147	5008	,	,		20883	0.7371		0.4831	False		,,,				2504	0.5695					ENST00000408899.2		NA																	0				large_intestine(4)|lung(17)|skin(1)	22						c.(523-528)cacttc>cac		olfactory receptor, family 2, subfamily A, member 14				1743,2055		447,849,603						4.2	1.0		dbSNP_130	199	4152,3826		1121,1910,958	no	coding	OR2A14	NM_001001659.1		1568,2759,1561	A1A1,A1R,RR		47.9569,45.8926,49.9406				5895,5881				SO:0001651	inframe_deletion	135941				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:143826730_143826732delCTT		CCDS43672.1	7q35	2013-09-20		2004-03-08	ENSG00000221938	ENSG00000221938		"""GPCR / Class A : Olfactory receptors"""	15084	protein-coding gene	gene with protein product				OR2A14P, OR2A6			Standard	NM_001001659		Approved	OST182	uc011kua.2	Q96R47	OTTHUMG00000158003	ENST00000408899.2:c.525_527delCTT	7.37:g.143826733_143826735delCTT	ENSP00000386137:p.Phe177del	False	False		Somatic	2					p.F177del	NM_001001659.1	NP_001001659.1	WXS	Illumina HiSeq	Phase_I	Q96R47	O2A14_HUMAN			1	580_582	+	Melanoma(164;0.0783)		177	Missing (in Ref. 2; AAK95081).				Q6IF41|Q8NGT8	In_Frame_Del	DEL	ENST00000408899.2	37	c.525_527delCTT	CCDS43672.1																																																																																				0.562	OR2A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349980.1	0			7:143826730
LZTS1	11178	broad.mit.edu	37	8	20107683	20107730	+	In_Frame_Del	DEL	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	rs372940217|rs141716809|rs373668156|rs148039718	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	-	-	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	CAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENST00000381569.1	-	4	1651_1698	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel	p.RTQDLEGALRTKGLEL432del	LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	432					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		CACAGACCTCCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCTCAGCTCCAGG	0.657																																						ENST00000381569.1		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1294-1341)aggacccaggacctggagggcgccctgcgcaccaagggcctggagctgdel		leucine zipper, putative tumor suppressor 1																																				SO:0001651	inframe_deletion	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	8.37:g.20107683_20107730delCAGCTCCAGGCCCTTGGTGCGCAGGGCGCCCTCCAGGTCCTGGGTCCT	ENSP00000370981:p.Arg432_Leu447del	True	False		Somatic	1				LZTS1_ENST00000522290.1_In_Frame_Del_p.RTQDLEGALRTKGLEL432del|LZTS1_ENST00000265801.6_In_Frame_Del_p.RTQDLEGALRTKGLEL432del	p.RTQDLEGALRTKGLEL432del			WXS	Illumina HiSeq	Phase_I	Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1651_1698	-			432					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	In_Frame_Del	DEL	ENST00000381569.1	37	c.1294_1341delAGGACCCAGGACCTGGAGGGCGCCCTGCGCACCAAGGGCCTGGAGCTG	CCDS6015.1																																																																																				0.657	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	0	NM_021020		8:20107683
SDCBP	6386	broad.mit.edu	37	8	59488619	59488620	+	Splice_Site	INS	-	-	TTAAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:59488619_59488620insTTAAC	ENST00000260130.4	+	5	551_552	c.401_402insTTAAC	c.(400-405)aatggt>aaTTAACtggt	p.G135fs	SDCBP_ENST00000422546.2_Splice_Site_p.G134fs|SDCBP_ENST00000424270.2_Splice_Site_p.G129fs|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000523483.1_Splice_Site_p.G155fs|SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000413219.2_Splice_Site_p.G135fs|SDCBP_ENST00000447182.2_Splice_Site_p.G134fs	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	135	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCAATAGATAATGTAAGTATTT	0.272																																						ENST00000523483.1		NA																	0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(460-465)aatggt>aaTTAACtggt		syndecan binding protein (syntenin)																																				SO:0001630	splice_region_variant	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59488619_59488620insTTAAC	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.402+1->TTAAC	8.37:g.59488619_59488620insTTAAC		False	False		Somatic	0				SDCBP_ENST00000447267.2_Intron|SDCBP_ENST00000424270.2_Splice_Site_p.G129fs|SDCBP_ENST00000447182.2_Splice_Site_p.G134fs|SDCBP_ENST00000413219.2_Splice_Site_p.G135fs|SDCBP_ENST00000260130.4_Splice_Site_p.G135fs|SDCBP_ENST00000520168.1_Intron|SDCBP_ENST00000422546.2_Splice_Site_p.G134fs	p.G155fs			WXS	Illumina HiSeq	Phase_I	O00560	SDCB1_HUMAN			6	1975_1976	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	135			PDZ 1.		B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Splice_Site	INS	ENST00000260130.4	37	c.461_462insTTAAC	CCDS6172.1																																																																																				0.272	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	0	NM_005625	Frame_Shift_Ins	8:59488619
MIR124-2HG	100130155	broad.mit.edu	37	8	65291820	65291821	+	lincRNA	INS	-	-	ATCTG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:65291820_65291821insATCTG	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							TTGAAGGACACCAAAGCATCTC	0.515																																						ENST00000521441.1		NA																	0					NA																																														0							g.chr8:65291820_65291821insATCTG																													8.37:g.65291820_65291821insATCTG		True	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	655	+			NA						RNA	INS	ENST00000521441.1	37																																																																																						0.515	LINC00966-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000378434.1	0			8:65291820
UBR5	51366	broad.mit.edu	37	8	103338872	103338873	+	Frame_Shift_Ins	INS	-	-	TAAGCAGTTTTAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:103338872_103338873insTAAGCAGTTTTAC	ENST00000520539.1	-	13	2106_2107	c.1500_1501insGTAAAACTGCTTA	c.(1498-1503)agtcaafs	p.Q501fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.Q501fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.Q495fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	501					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTCTTCCTTTGACTAAAAGGAA	0.342																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000521922.1		NA																	0				NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(1480-1485)agtcaafs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103338872_103338873insTAAGCAGTTTTAC	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.1500_1501insGTAAAACTGCTTA	8.37:g.103338872_103338873insTAAGCAGTTTTAC	ENSP00000429084:p.Gln501fs	False	False		Somatic	0				UBR5_ENST00000220959.4_Frame_Shift_Ins_p.Q501fs|UBR5_ENST00000520539.1_Frame_Shift_Ins_p.Q501fs	p.Q495fs			WXS	Illumina HiSeq	Phase_I	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		13	2006_2007	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		501					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.1482_1483insGTAAAACTGCTTA	CCDS34933.1																																																																																				0.342	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	0	NM_015902		8:103338872
OXR1	55074	broad.mit.edu	37	8	107719418	107719419	+	Intron	INS	-	-	GTTTTCCAAAGT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:107719418_107719419insGTTTTCCAAAGT	ENST00000442977.2	+	8	1726				OXR1_ENST00000517566.2_Intron|OXR1_ENST00000497705.1_In_Frame_Ins_p.490_490V>GFPKL|OXR1_ENST00000452423.2_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000312046.6_Intron|OXR1_ENST00000445937.1_Intron	NM_001198532.1	NP_001185461.1	Q8N573	OXR1_HUMAN	oxidation resistance 1						adult walking behavior (GO:0007628)|cellular response to hydroperoxide (GO:0071447)|negative regulation of neuron apoptotic process (GO:0043524)|response to oxidative stress (GO:0006979)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)	oxidoreductase activity (GO:0016491)			NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			CAATTGTATGGTGTCTCCGTCT	0.416																																						ENST00000497705.1		NA																	0				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1468-1470)gtg>gGTTTTCCAAAGTtg		oxidation resistance 1																																				SO:0001627	intron_variant	55074				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion		g.chr8:107719418_107719419insGTTTTCCAAAGT	AF309387	CCDS6304.2, CCDS47909.1, CCDS56547.1, CCDS56548.1, CCDS56549.1, CCDS56550.1	8q23	2013-03-14			ENSG00000164830	ENSG00000164830			15822	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 3"""	605609				11114193	Standard	NM_181354		Approved	TLDC3	uc011lht.2	Q8N573	OTTHUMG00000167682	ENST00000442977.2:c.1627+45->GTTTTCCAAAGT	8.37:g.107719418_107719419insGTTTTCCAAAGT		False	False		Somatic	0				OXR1_ENST00000452423.2_Intron|OXR1_ENST00000445937.1_Intron|OXR1_ENST00000312046.6_Intron|OXR1_ENST00000531443.1_Intron|OXR1_ENST00000517566.2_Intron|OXR1_ENST00000442977.2_Intron	p.490_490V>GFPKL			WXS	Illumina HiSeq	Phase_I	Q8N573	OXR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)		7	1507_1508	+			0					A6NK11|A8KA34|B3KXL1|B7Z402|B7Z8N5|D3HIS6|Q3LIB5|Q6ZVK9|Q8N8V0|Q9H266|Q9NWC7	In_Frame_Ins	INS	ENST00000442977.2	37	c.1468_1469insGTTTTCCAAAGT	CCDS56548.1																																																																																				0.416	OXR1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_181354		8:107719418
DENND4C	55667	broad.mit.edu	37	9	19346636	19346637	+	Frame_Shift_Ins	INS	-	-	CTACTTCTCTTATT			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:19346636_19346637insCTACTTCTCTTATT	ENST00000380432.2	+	18	3047_3048	c.3014_3015insCTACTTCTCTTATT	c.(3013-3018)aacctafs	p.L1006fs	DENND4C_ENST00000602925.1_Frame_Shift_Ins_p.L1242fs|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.L1291fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1006					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGCTATATGAACCTAAAAAGTC	0.386																																						ENST00000602925.1		NA																	0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(3721-3726)aacctafs		DENN/MADD domain containing 4C																																				SO:0001589	frameshift_variant	55667					integral to membrane		g.chr9:19346636_19346637insCTACTTCTCTTATT	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	Exception_encountered	9.37:g.19346636_19346637insCTACTTCTCTTATT	ENSP00000369797:p.Leu1006fs	False	False		Somatic	0				DENND4C_ENST00000307015.9_Frame_Shift_Ins_p.L479fs|DENND4C_ENST00000434457.2_Frame_Shift_Ins_p.L1291fs|DENND4C_ENST00000540671.1_Frame_Shift_Ins_p.L336fs|DENND4C_ENST00000380432.2_Frame_Shift_Ins_p.L1006fs	p.L1242fs			WXS	Illumina HiSeq	Phase_I	Q5VZ89	DEN4C_HUMAN			22	4138_4139	+			1006					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Frame_Shift_Ins	INS	ENST00000380432.2	37	c.3722_3723insCTACTTCTCTTATT																																																																																					0.386	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		0	NM_017925		9:19346636
NPR2	4882	broad.mit.edu	37	9	35806459	35806460	+	In_Frame_Ins	INS	-	-	GCCGAA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:35806459_35806460insGCCGAA	ENST00000342694.2	+	16	2698_2699	c.2443_2444insGCCGAA	c.(2443-2445)ctg>cGCCGAAtg	p.815_815L>RRM		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor 2	815					bone development (GO:0060348)|cell surface receptor signaling pathway (GO:0007166)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cGMP biosynthetic process (GO:0006182)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of oocyte maturation (GO:1900194)|ossification (GO:0001503)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|signal transduction (GO:0007165)|single organism reproductive process (GO:0044702)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	CTTGGAGAAGCTGGTGGAGGAA	0.54																																						ENST00000342694.2		NA																	0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45						c.(2443-2445)ctg>cGCCGAAtg		natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)																																			SO:0001652	inframe_insertion	4882				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity	g.chr9:35806459_35806460insGCCGAA	AJ005282	CCDS6590.1	9p21-p12	2014-03-03	2014-03-03		ENSG00000159899	ENSG00000159899			7944	protein-coding gene	gene with protein product	"""guanylate cyclase B"""	108961	"""acromesomelic dysplasia, Maroteaux type"", ""atrionatriuretic peptide receptor B"", ""natriuretic peptide receptor B"""	ANPRB, NPRB, AMDM		9634515, 15146390	Standard	XM_005251478		Approved	GUCY2B, ANPb	uc003zyd.3	P20594	OTTHUMG00000019871	Exception_encountered	9.37:g.35806459_35806460insGCCGAA	ENSP00000341083:p.Leu815delinsArgArgMet	False	False		Somatic	0					p.815_815L>RRM	NM_003995.3	NP_003986.2	WXS	Illumina HiSeq	Phase_I	P20594	ANPRB_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		16	2698_2699	+	all_epithelial(49;0.161)		815					B0ZBF2|B0ZBF3|D3DRP3|D3DRP4|O60871|Q4VAK7|Q5TCV2|Q8TA93|Q9UQ50	In_Frame_Ins	INS	ENST00000342694.2	37	c.2443_2444insGCCGAA	CCDS6590.1																																																																																				0.540	NPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052345.1	0			9:35806459
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971004	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:21971003_21971004insA	ENST00000304494.5	-	2	624_625	c.354_355insT	c.(352-357)gctgagfs	p.E119fs	CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000579755.1_Stop_Codon_Ins|CDKN2A_ENST00000530628.2_Stop_Codon_Ins|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Stop_Codon_Ins|CDKN2A_ENST00000479692.2_Frame_Shift_Ins_p.E68fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	119			E -> Q (in a biliary tract tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCCA	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000479692.2		17																	1369	Whole gene deletion(1316)|Unknown(44)|Substitution - Nonsense(4)|Substitution - Missense(2)|Deletion - Frameshift(1)|Complex - frameshift(1)|Nonstop extension(1)	p.0?(1315)|p.?(44)|p.E119*(4)|p.E119Q(2)|p.0(1)|p.A118fs*10(1)|p.A118fs*27(1)|p.*174L(1)	haematopoietic_and_lymphoid_tissue(283)|skin(174)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(74)|soft_tissue(57)|pleura(51)|oesophagus(51)|upper_aerodigestive_tract(49)|ovary(36)|kidney(32)|breast(32)|pancreas(30)|biliary_tract(14)|thyroid(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199						c.(199-204)gctgagfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21971003_21971004insA	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.355dupT	9.37:g.21971004_21971004dupA	ENSP00000307101:p.Glu119fs	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000446177.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000579122.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000498628.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000497750.1_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000530628.2_Stop_Codon_Ins|CDKN2A_ENST00000578845.2_Frame_Shift_Ins_p.E68fs|CDKN2A_ENST00000494262.1_Frame_Shift_Ins_p.E68fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Stop_Codon_Ins|CDKN2A_ENST00000498124.1_Frame_Shift_Ins_p.E119fs|CDKN2A_ENST00000361570.3_Stop_Codon_Ins|CDKN2A_ENST00000304494.5_Frame_Shift_Ins_p.E119fs	p.E68fs			WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	215_216	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	119		A -> L (in CMM2; requires 2 nucleotide substitutions).|A -> T (in an esophagus tumor).|A -> V.|Missing (in melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Ins	INS	ENST00000304494.5	37	c.201_202insT	CCDS6510.1																																																																																				0.728	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971003
ZBTB34	403341	broad.mit.edu	37	9	129642528	129642529	+	Frame_Shift_Ins	INS	-	-	CTCTATCTGA			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	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
USP20	10868	broad.mit.edu	37	9	132630665	132630667	+	In_Frame_Del	DEL	GAC	GAC	-	rs10602985|rs398096692	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:132630665_132630667delGAC	ENST00000315480.4	+	11	1230_1232	c.1072_1074delGAC	c.(1072-1074)gacdel	p.D359del	USP20_ENST00000372429.3_In_Frame_Del_p.D359del|USP20_ENST00000358355.1_In_Frame_Del_p.D359del			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	359	USP.			Missing (in Ref. 1; AAL79676, 2; BAA76847, 4; EAW87914 and 5; AAH39593). {ECO:0000305}.	endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGCTGCCCTTGACGACCAGCCCG	0.675														4250	0.848642	0.643	0.9035	5008	,	,		13673	0.9831		0.9066	False		,,,				2504	0.8896					ENST00000315480.4		NA																	0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(1072-1074)gacdel		ubiquitin specific peptidase 20			,,	2734,1342		971,792,275					,,	-3.8	0.1		dbSNP_130	35	7092,970		3142,808,81	no	coding,coding,coding	USP20	NM_006676.6,NM_001110303.2,NM_001008563.3	,,	4113,1600,356	A1A1,A1R,RR		12.0318,32.9244,19.0476	,,	,,		9826,2312				SO:0001651	inframe_deletion	0				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630665_132630667delGAC	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.1072_1074delGAC	9.37:g.132630668_132630670delGAC	ENSP00000313811:p.Asp359del	False	False		Somatic	2				USP20_ENST00000358355.1_In_Frame_Del_p.D359del|USP20_ENST00000372429.3_In_Frame_Del_p.D359del	p.D359del			WXS	Illumina HiSeq	Phase_I	Q9Y2K6	UBP20_HUMAN			11	1230_1232	+		Ovarian(14;0.00556)	359	Missing (in Ref. 1; AAL79676, 2; BAA76847, 4; EAW87914 and 5; AAH39593).				Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	In_Frame_Del	DEL	ENST00000315480.4	37	c.1072_1074delGAC	CCDS43892.1																																																																																				0.675	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2	0			9:132630665
SETX	23064	broad.mit.edu	37	9	135202274	135202275	+	Frame_Shift_Ins	INS	-	-	CG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:135202274_135202275insCG	ENST00000224140.5	-	10	4892_4893	c.4710_4711insCG	c.(4708-4713)gaagtgfs	p.V1571fs	SETX_ENST00000372169.2_Frame_Shift_Ins_p.V1571fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.V1571fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1571					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCTGCTTTCACTTCAGAGTGTT	0.426																																						ENST00000224140.5		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(4708-4713)gaagtgfs		senataxin																																				SO:0001589	frameshift_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202274_135202275insCG	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4710_4711insCG	9.37:g.135202274_135202275insCG	ENSP00000224140:p.Val1571fs	False	False		Somatic	0				SETX_ENST00000372169.2_Frame_Shift_Ins_p.V1571fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.V1571fs	p.V1571fs	NM_015046.5	NP_055861.3	WXS	Illumina HiSeq	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4892_4893	-		Myeloproliferative disorder(178;0.204)	1571					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Frame_Shift_Ins	INS	ENST00000224140.5	37	c.4710_4711insCG	CCDS6947.1																																																																																				0.426	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	0	NM_015046		9:135202274
SETX	23064	broad.mit.edu	37	9	135202275	135202276	+	Frame_Shift_Ins	INS	-	-	CTCTAAAAAATAAG			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:135202275_135202276insCTCTAAAAAATAAG	ENST00000224140.5	-	10	4891_4892	c.4709_4710insCTTATTTTTTAGAG	c.(4708-4710)gaafs	p.E1570fs	SETX_ENST00000372169.2_Frame_Shift_Ins_p.E1570fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.E1570fs	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1570					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGCTTTCACTTCAGAGTGTTT	0.421																																						ENST00000224140.5		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(4708-4710)gaafs		senataxin																																				SO:0001589	frameshift_variant	23064				cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	g.chr9:135202275_135202276insCTCTAAAAAATAAG	AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.4709_4710insCTTATTTTTTAGAG	9.37:g.135202275_135202276insCTCTAAAAAATAAG	ENSP00000224140:p.Glu1570fs	False	False		Somatic	0				SETX_ENST00000372169.2_Frame_Shift_Ins_p.E1570fs|SETX_ENST00000393220.1_Frame_Shift_Ins_p.E1570fs	p.E1570fs	NM_015046.5	NP_055861.3	WXS	Illumina HiSeq	Phase_I	Q7Z333	SETX_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)	10	4891_4892	-		Myeloproliferative disorder(178;0.204)	1570					A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Frame_Shift_Ins	INS	ENST00000224140.5	37	c.4709_4710insCTTATTTTTTAGAG	CCDS6947.1																																																																																				0.421	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054774.3	0	NM_015046		9:135202275
UBAC1	10422	broad.mit.edu	37	9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-	rs66767056|rs140946801	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084). {ECO:0000305}.	protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621														851	0.169928	0.0197	0.2104	5008	,	,		17759	0.2183		0.2465	False		,,,				2504	0.2157				NSCLC(78;973 1398 27381 29552 42415)	ENST00000371756.3		NA																	2	Deletion - Frameshift(1)|Deletion - In frame(1)	p.E269delE(1)|p.E269fs*6(1)	stomach(1)|kidney(1)	NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(805-810)gaggcc>gcc		UBA domain containing 1				274,3990		12,250,1870						0.6	0.8		dbSNP_130	124	2296,5958		312,1672,2143	no	coding	UBAC1	NM_016172.2		324,1922,4013	A1A1,A1R,RR		27.8168,6.4259,20.5304				2570,9948				SO:0001651	inframe_deletion	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138836942_138836944delCCT	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.806_808delAGG	9.37:g.138836945_138836947delCCT	ENSP00000360821:p.Glu269del	False	False		Somatic	2				UBAC1_ENST00000465873.1_5'UTR	p.E269del	NM_016172.2	NP_057256.2	WXS	Illumina HiSeq	Phase_I	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	7	1023_1025	-		Myeloproliferative disorder(178;0.0511)	269	Missing (in Ref. 1; AAD51084).				O75500|Q9UMW7	In_Frame_Del	DEL	ENST00000371756.3	37	c.806_808delAGG	CCDS35177.1																																																																																				0.621	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	0	NM_016172		9:138836942
GAD2	2572	broad.mit.edu	37	10	26589784	26589785	+	In_Frame_Ins	INS	-	-	ATC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26589784_26589785insATC	ENST00000376261.3	+	16	2155_2156	c.1652_1653insATC	c.(1651-1656)ggagac>ggATCagac	p.551_552GD>GSD	GAD2_ENST00000259271.3_In_Frame_Ins_p.551_552GD>GSD	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	551					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)	p.G551E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CAACCCTTGGGAGACAAGGTCA	0.47																																						ENST00000376261.3		NA																	1	Substitution - Missense(1)	p.G551E(1)	skin(1)	central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1651-1656)ggagac>ggATCagac		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)																																			SO:0001652	inframe_insertion	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589784_26589785insATC	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	Exception_encountered	10.37:g.26589784_26589785insATC	ENSP00000365437:p.Gly551_Asp552insSer	True	False		Somatic	0				GAD2_ENST00000259271.3_In_Frame_Ins_p.551_552GD>GSD	p.551_552GD>GSD	NM_001134366.1	NP_001127838.1	WXS	Illumina HiSeq	Phase_I	Q05329	DCE2_HUMAN			16	2155_2156	+			551					Q9UD87	In_Frame_Ins	INS	ENST00000376261.3	37	c.1652_1653insATC	CCDS7149.1																																																																																				0.470	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	NM_000818		10:26589784
GAD2	2572	broad.mit.edu	37	10	26589786	26589787	+	In_Frame_Ins	INS	-	-	AGAATTAGA	rs201538283		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26589786_26589787insAGAATTAGA	ENST00000376261.3	+	16	2157_2158	c.1654_1655insAGAATTAGA	c.(1654-1656)gac>gAGAATTAGAac	p.552_552D>EN*N	GAD2_ENST00000259271.3_In_Frame_Ins_p.552_552D>EN*N	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	552					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACCCTTGGGAGACAAGGTCAAT	0.47																																						ENST00000376261.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1654-1656)gac>gAGAATTAGAac		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)																																			SO:0001652	inframe_insertion	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26589786_26589787insAGAATTAGA	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	Exception_encountered	10.37:g.26589786_26589787insAGAATTAGA	ENSP00000365437:p.Asp552delinsGluAsn*Asn	False	False		Somatic	0				GAD2_ENST00000259271.3_In_Frame_Ins_p.552_552D>EN*N	p.552_552D>EN*N	NM_001134366.1	NP_001127838.1	WXS	Illumina HiSeq	Phase_I	Q05329	DCE2_HUMAN			16	2157_2158	+			552					Q9UD87	In_Frame_Ins	INS	ENST00000376261.3	37	c.1654_1655insAGAATTAGA	CCDS7149.1																																																																																				0.470	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	0	NM_000818		10:26589786
PCDHB3	56132	broad.mit.edu	37	5	140482066	140482066	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:140482066G>A	ENST00000231130.2	+	1	1833	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E611D(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCACGGAGCCCGGGCTGT	0.706																																						ENST00000231130.2		NA																	1	Substitution - Missense(1)	p.E611D(1)	lung(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1831-1833)gaG>gaA									20.0	22.0	21.0					5																	140482066		1965	3899	5864	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482066G>A	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1833G>A	5.37:g.140482066G>A		True	False		Somatic	0					p.E611E	NM_018937.2	NP_061760.1	WXS	Illumina HiSeq	Phase_I	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1833	+			611			Cadherin 6.		B2R8P2	Silent	SNP	ENST00000231130.2	37	c.1833G>A	CCDS4245.1																																																																																				0.706	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	0	NM_018937		5:140482066
TSC2	7249	broad.mit.edu	37	16	2137908	2137908	+	Silent	SNP	C	C	T	rs45467993|rs137854198		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:2137908C>T	ENST00000219476.3	+	39	5664	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000353929.4_Silent_p.Y1635Y|TSC2_ENST00000568454.1_Silent_p.Y1622Y|TSC2_ENST00000382538.6_Silent_p.Y1563Y|TSC2_ENST00000439673.2_Silent_p.Y1575Y|TSC2_ENST00000350773.4_Silent_p.Y1655Y|TSC2_ENST00000401874.2_Silent_p.Y1611Y	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1678	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCTGGACTACGAGTGCAACC	0.642			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000219476.3		NA	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	"""D, Mis, N, F, S"""	tuberous sclerosis 2 gene			"""E, O"""		"""hamartoma, renal cell"""			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56	GRCh37	CM054870	TSC2	M	rs45467993	c.(5032-5034)taC>taT		tuberous sclerosis 2		C	,,	1,4393	2.1+/-5.4	0,1,2196	65.0	50.0	55.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	5034,4833,4965	-7.7	0.8	16	dbSNP_127	55	0,8598		0,0,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	TSC2	NM_000548.3,NM_001077183.1,NM_001114382.1	,,	0,1,6495	TT,TC,CC		0.0,0.0228,0.0077	,,	1678/1808,1611/1741,1655/1785	2137908	1,12991	2197	4299	6496	SO:0001819	synonymous_variant	7249	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2137908C>T	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5034C>T	16.37:g.2137908C>T		False	False		Somatic	0				TSC2_ENST00000401874.2_Silent_p.Y1611Y|TSC2_ENST00000568454.1_Silent_p.Y1622Y|TSC2_ENST00000382538.6_Silent_p.Y1563Y|TSC2_ENST00000353929.4_Silent_p.Y1635Y|TSC2_ENST00000350773.4_Silent_p.Y1655Y|TSC2_ENST00000439673.2_Silent_p.Y1575Y	p.Y1678Y	NM_000548.3	NP_000539.2	WXS	Illumina HiSeq	Phase_I	P49815	TSC2_HUMAN			39	5664	+		Hepatocellular(780;0.0202)	1678			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	ENST00000219476.3	37	c.5034C>T	CCDS10458.1																																																																																				0.642	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	0	NM_000548		16:2137908
UGP2	7360	broad.mit.edu	37	2	64117306	64117306	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:64117306A>G	ENST00000337130.5	+	9	1882	c.1406A>G	c.(1405-1407)aAt>aGt	p.N469S	UGP2_ENST00000467648.2_Missense_Mutation_p.N458S|UGP2_ENST00000394417.2_Missense_Mutation_p.N458S|UGP2_ENST00000445915.2_Missense_Mutation_p.N478S	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	469	Oligomerization.				carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGAAAAAATGTTTCATTA	0.289																																						ENST00000337130.5		NA																	0				endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						c.(1405-1407)aAt>aGt		UDP-glucose pyrophosphorylase 2							80.0	85.0	83.0					2																	64117306		2202	4298	6500	SO:0001583	missense	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64117306A>G		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.1406A>G	2.37:g.64117306A>G	ENSP00000338703:p.Asn469Ser	True	False		Somatic	0				UGP2_ENST00000467648.2_Missense_Mutation_p.N458S|UGP2_ENST00000394417.2_Missense_Mutation_p.N458S|UGP2_ENST00000445915.2_Missense_Mutation_p.N478S	p.N469S	NM_006759.3	NP_006750.3	WXS	Illumina HiSeq	Phase_I	Q16851	UGPA_HUMAN			9	1882	+			469			Oligomerization (By similarity).		Q07131|Q0P6K2|Q86Y81|Q9BU15	Missense_Mutation	SNP	ENST00000337130.5	37	c.1406A>G	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	A	17.57	3.421711	0.62622	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	5.82	5.82	0.92795	.	0.129339	0.64402	D	0.000001	T	0.22205	0.0535	L	0.45051	1.395	0.80722	D	1	P;P	0.42337	0.776;0.494	B;B	0.39935	0.314;0.314	T	0.01152	-1.1435	10	0.45353	T	0.12	-6.9138	16.1814	0.81903	1.0:0.0:0.0:0.0	.	478;469	E7EUC7;Q16851	.;UGPA_HUMAN	S	458;458;469;478	ENSP00000377939:N458S;ENSP00000420793:N458S;ENSP00000338703:N469S;ENSP00000411803:N478S	ENSP00000338703:N469S	N	+	2	0	UGP2	63970810	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.339000	0.96797	2.234000	0.73211	0.533000	0.62120	AAT		0.289	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	0	NM_006759		2:64117306
MTTP	4547	broad.mit.edu	37	4	100512445	100512445	+	Silent	SNP	G	G	C	rs267599962		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:100512445G>C	ENST00000265517.5	+	5	758	c.555G>C	c.(553-555)gtG>gtC	p.V185V	MTTP_ENST00000457717.1_Silent_p.V185V|MTTP_ENST00000511045.1_Silent_p.V212V			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	185	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	AAGACAAAGTGATCAAAATTA	0.403																																						ENST00000457717.1		NA																	0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57						c.(553-555)gtG>gtC		microsomal triglyceride transfer protein	Hesperetin(DB01094)						105.0	103.0	103.0					4																	100512445		2203	4300	6503	SO:0001819	synonymous_variant	4547				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity	g.chr4:100512445G>C		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.555G>C	4.37:g.100512445G>C		False	False		Somatic	0				MTTP_ENST00000265517.5_Silent_p.V185V|MTTP_ENST00000511045.1_Silent_p.V212V	p.V185V	NM_000253.2	NP_000244.2	WXS	Illumina HiSeq	Phase_I	P55157	MTP_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	6	811	+			185			Vitellogenin.		A8K428|Q08AM4|Q6P5T3	Silent	SNP	ENST00000265517.5	37	c.555G>C	CCDS3651.1																																																																																				0.403	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253662.3	0			4:100512445
DDR2	4921	broad.mit.edu	37	1	162688902	162688902	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:162688902A>G	ENST00000367922.3	+	4	487	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	DDR2_ENST00000367921.3_Missense_Mutation_p.I17V	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	17					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)	GCTGCTGCCTATCTTGAGTTC	0.438																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.3		NA																	0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(49-51)Atc>Gtc		discoidin domain receptor tyrosine kinase 2							193.0	166.0	175.0					1																	162688902		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162688902A>G	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	ENST00000367922.3:c.49A>G	1.37:g.162688902A>G	ENSP00000356899:p.Ile17Val	False	False		Somatic	0				DDR2_ENST00000367921.3_Missense_Mutation_p.I17V	p.I17V	NM_001014796.1	NP_001014796.1	WXS	Illumina HiSeq	Phase_I	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		4	487	+	all_hematologic(112;0.115)		NA					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.49A>G	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	A	2.456	-0.325175	0.05350	.	.	ENSG00000162733	ENST00000446985;ENST00000415555;ENST00000542391;ENST00000367922;ENST00000367921	D;D;D;D	0.97642	-4.2;-4.47;-1.68;-1.68	4.25	-2.92	0.05615	.	0.491466	0.19764	N	0.106619	T	0.82226	0.4991	N	0.25647	0.755	0.26350	N	0.977213	B	0.06786	0.001	B	0.04013	0.001	T	0.68622	-0.5360	9	0.19590	T	0.45	.	2.942	0.05834	0.3119:0.45:0.0921:0.146	.	17	Q16832	DDR2_HUMAN	V	17	ENSP00000400309:I17V;ENSP00000391310:I17V;ENSP00000356899:I17V;ENSP00000356898:I17V	ENSP00000356898:I17V	I	+	1	0	DDR2	160955526	0.076000	0.21285	0.303000	0.25071	0.931000	0.56810	-0.197000	0.09518	-0.682000	0.05197	-0.605000	0.04089	ATC		0.438	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	0	NM_006182		1:162688902
IP6K2	51447	broad.mit.edu	37	3	48726088	48726088	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:48726088C>T	ENST00000328631.5	-	6	1122	c.899G>A	c.(898-900)cGc>cAc	p.R300H	NCKIPSD_ENST00000294129.2_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000341520.4_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	300					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GAGTTCACGGCGCAGGTACCG	0.567																																						ENST00000328631.5		NA																	0				biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						c.(898-900)cGc>cAc		inositol hexakisphosphate kinase 2							108.0	97.0	101.0					3																	48726088		2203	4300	6503	SO:0001583	missense	51447				negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:48726088C>T	AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.899G>A	3.37:g.48726088C>T	ENSP00000331103:p.Arg300His	False	False		Somatic	0					p.R300H	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	WXS	Illumina HiSeq	Phase_I	Q9UHH9	IP6K2_HUMAN			6	1122	-			300					A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	ENST00000328631.5	37	c.899G>A	CCDS2777.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867840	0.91587	.	.	ENSG00000068745	ENST00000328631	T	0.19105	2.17	5.75	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.52125	0.1715	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61657	-0.7018	10	0.72032	D	0.01	-3.6578	14.8375	0.70194	0.0:0.9314:0.0:0.0686	.	300	Q9UHH9	IP6K2_HUMAN	H	300	ENSP00000331103:R300H	ENSP00000331103:R300H	R	-	2	0	IP6K2	48701092	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	7.818000	0.86416	1.451000	0.47736	0.655000	0.94253	CGC		0.567	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257521.2	0	NM_016291		3:48726088
HELQ	113510	broad.mit.edu	37	4	84353360	84353360	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:84353360C>T	ENST00000295488.3	-	10	2271	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	HELQ_ENST00000510985.1_Silent_p.Q636Q	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	703	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGCCAATCATCTGTTTATATT	0.358								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3		NA																	0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2107-2109)caG>caA	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							103.0	101.0	101.0					4																	84353360		2203	4300	6503	SO:0001819	synonymous_variant	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84353360C>T	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2109G>A	4.37:g.84353360C>T		False	False		Somatic	0				HELQ_ENST00000510985.1_Silent_p.Q636Q	p.Q703Q	NM_133636.2	NP_598375	WXS	Illumina HiSeq	Phase_I	Q8TDG4	HELQ_HUMAN			10	2271	-			703			Helicase C-terminal.		Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	c.2109G>A	CCDS3603.1																																																																																				0.358	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	0	NM_133636		4:84353360
MATN4	8785	broad.mit.edu	37	20	43926857	43926857	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:43926857C>T	ENST00000372754.1	-	7	1510	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H	MATN4_ENST00000372751.4_Missense_Mutation_p.R311H|MATN4_ENST00000360607.6_Missense_Mutation_p.R419H|MATN4_ENST00000372756.1_Missense_Mutation_p.R460H|MATN4_ENST00000342716.4_Missense_Mutation_p.R460H|MATN4_ENST00000353917.5_Missense_Mutation_p.R378H|MATN4_ENST00000537548.1_Missense_Mutation_p.R460H			O95460	MATN4_HUMAN	matrilin 4	501	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|response to axon injury (GO:0048678)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATCCTGGGAGCGGCCATCCGT	0.672																																						ENST00000537548.1		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1378-1380)cGc>cAc		matrilin 4							61.0	53.0	56.0					20																	43926857		2203	4300	6503	SO:0001583	missense	8785					extracellular region	protein binding	g.chr20:43926857C>T	AJ007581	CCDS13348.1, CCDS46607.1	20q13.1-q13.2	2008-07-07			ENSG00000124159	ENSG00000124159			6910	protein-coding gene	gene with protein product		603897				9827539, 9027493	Standard	NM_003833		Approved		uc002xnn.2	O95460	OTTHUMG00000033043	ENST00000372754.1:c.1502G>A	20.37:g.43926857C>T	ENSP00000361840:p.Arg501His	False	False		Somatic	0				MATN4_ENST00000342716.4_Missense_Mutation_p.R460H|MATN4_ENST00000372754.1_Missense_Mutation_p.R501H|MATN4_ENST00000353917.5_Missense_Mutation_p.R378H|MATN4_ENST00000372756.1_Missense_Mutation_p.R460H|MATN4_ENST00000372751.4_Missense_Mutation_p.R311H|MATN4_ENST00000360607.6_Missense_Mutation_p.R419H	p.R460H			WXS	Illumina HiSeq	Phase_I	O95460	MATN4_HUMAN			8	1623	-		Myeloproliferative disorder(115;0.0122)	501			VWFA 2.		A6NH94|A6NKN5|Q5QPU2|Q5QPU3|Q5QPU4|Q8N2M5|Q8N2M7|Q9H1F8|Q9H1F9	Missense_Mutation	SNP	ENST00000372754.1	37	c.1379G>A		.	.	.	.	.	.	.	.	.	.	C	33	5.239741	0.95240	.	.	ENSG00000124159	ENST00000372753;ENST00000372754;ENST00000372756;ENST00000353917;ENST00000360607;ENST00000342716;ENST00000537548;ENST00000255132;ENST00000372751	D;D;D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	5.46	5.46	0.80206	.	0.000000	0.44902	D	0.000411	D	0.92456	0.7605	M	0.86343	2.81	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.97;0.999	D	0.93464	0.6813	10	0.87932	D	0	.	18.3439	0.90314	0.0:1.0:0.0:0.0	.	378;419;460	A6NNA4;O95460-4;O95460-2	.;.;.	H	311;501;460;378;419;460;460;501;311	ENSP00000361839:R311H;ENSP00000361840:R501H;ENSP00000361842:R460H;ENSP00000243983:R378H;ENSP00000353819:R419H;ENSP00000343164:R460H;ENSP00000440328:R460H;ENSP00000361837:R311H	ENSP00000255132:R501H	R	-	2	0	MATN4	43360271	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	7.759000	0.85235	2.559000	0.86315	0.644000	0.83932	CGC		0.672	MATN4-002	KNOWN	non_canonical_conserved|non_canonical_U12|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000080335.1	0			20:43926857
PRDM13	59336	broad.mit.edu	37	6	100061823	100061823	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:100061823C>T	ENST00000369215.4	+	4	1617	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	438					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurogenesis (GO:0022008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGCGCTGCCGCCCCTCGACCC	0.731																																						ENST00000369215.4		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17						c.(1312-1314)Ccc>Tcc		PR domain containing 13							13.0	16.0	15.0					6																	100061823		1673	3640	5313	SO:0001583	missense	59336				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:100061823C>T	AY004253	CCDS43487.1	6q16.2	2012-03-28			ENSG00000112238	ENSG00000112238			13998	protein-coding gene	gene with protein product							Standard	NM_021620		Approved		uc003pqg.1	Q9H4Q3	OTTHUMG00000015269	ENST00000369215.4:c.1312C>T	6.37:g.100061823C>T	ENSP00000358217:p.Pro438Ser	True	False		Somatic	0					p.P438S	NM_021620.3	NP_067633.2	WXS	Illumina HiSeq	Phase_I	Q9H4Q3	PRD13_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0598)	4	1617	+		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)	438					Q5TGC1|Q5TGC2	Missense_Mutation	SNP	ENST00000369215.4	37	c.1312C>T	CCDS43487.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237088	0.22711	.	.	ENSG00000112238	ENST00000369215;ENST00000369214	T;T	0.05717	3.4;3.4	3.59	0.61	0.17580	.	0.394677	0.18533	N	0.138435	T	0.01730	0.0055	L	0.29908	0.895	0.32681	N	0.515456	B	0.20052	0.041	B	0.21917	0.037	T	0.44298	-0.9337	10	0.22109	T	0.4	-3.4988	13.5999	0.62013	0.0:0.6342:0.3658:0.0	.	438	Q9H4Q3	PRD13_HUMAN	S	438;448	ENSP00000358217:P438S;ENSP00000358216:P448S	ENSP00000358216:P448S	P	+	1	0	PRDM13	100168544	0.056000	0.20664	0.437000	0.26809	0.095000	0.18619	1.172000	0.31908	-0.104000	0.12154	0.561000	0.74099	CCC		0.731	PRDM13-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041619.2	0			6:100061823
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	C	T	rs147199465		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:23191911C>T	ENST00000400153.2	-	0	1785					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		TGATTTTCTTCGCACTGATCC	0.408																																						ENST00000400153.2		NA																	0					NA																																														0							g.chr15:23191911C>T	BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23191911C>T		False	False		Somatic	0						NR_003521.1		WXS	Illumina HiSeq	Phase_I					0	1785	-			NA					Q1A5X8|Q52M16|Q52M18	RNA	SNP	ENST00000400153.2	37																																																																																						0.408	WHAMMP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415907.1	0	NR_003521		15:23191911
UBQLN3	50613	broad.mit.edu	37	11	5529285	5529285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:5529285G>T	ENST00000311659.4	-	2	1651	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	502										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGTGGTTGTATCTCATCC	0.587																																					Ovarian(72;684 1260 12332 41642 52180)	ENST00000311659.4		NA																	0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39						c.(1504-1506)Caa>Aaa		ubiquilin 3							55.0	57.0	56.0					11																	5529285		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529285G>T	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1504C>A	11.37:g.5529285G>T	ENSP00000347997:p.Gln502Lys	False	False		Somatic	0				HBG2_ENST00000380259.2_Intron	p.Q502K	NM_017481.2	NP_059509.1	WXS	Illumina HiSeq	Phase_I	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1651	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	502					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1504C>A	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	8.831	0.939872	0.18281	.	.	ENSG00000175520	ENST00000311659	T	0.35048	1.33	4.53	4.53	0.55603	.	0.461817	0.18254	N	0.146844	T	0.33089	0.0851	L	0.43152	1.355	0.21762	N	0.999559	B	0.15930	0.015	B	0.09377	0.004	T	0.20974	-1.0259	10	0.51188	T	0.08	.	15.1489	0.72681	0.0:0.0:1.0:0.0	.	502	Q9H347	UBQL3_HUMAN	K	502	ENSP00000347997:Q502K	ENSP00000347997:Q502K	Q	-	1	0	UBQLN3	5485861	0.387000	0.25188	0.402000	0.26371	0.171000	0.22731	2.771000	0.47670	2.499000	0.84300	0.655000	0.94253	CAA		0.587	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	0	NM_017481		11:5529285
CLEC4M	10332	broad.mit.edu	37	19	7833838	7833838	+	Silent	SNP	C	C	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7833838C>A	ENST00000327325.5	+	7	1282	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	CLEC4M_ENST00000596707.1_Silent_p.I321I|CLEC4M_ENST00000595496.1_Silent_p.I252I|CLEC4M_ENST00000248228.4_Silent_p.I366I|CLEC4M_ENST00000394122.2_Silent_p.I376I|CLEC4M_ENST00000596363.1_3'UTR|CLEC4M_ENST00000359059.5_Silent_p.I321I|CLEC4M_ENST00000334806.5_Silent_p.I337I|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000357361.2_3'UTR	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	388	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						ATTACTGGATCTGCAAAAAGC	0.498																																						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.(1162-1164)atC>atA		C-type lectin domain family 4, member M							179.0	146.0	157.0					19																	7833838		2203	4300	6503	SO:0001819	synonymous_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.chr19:7833838C>A	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		ENST00000327325.5:c.1164C>A	19.37:g.7833838C>A		False	False		Somatic	0				CLEC4M_ENST00000596707.1_Silent_p.I321I|CLEC4M_ENST00000394122.2_Silent_p.I376I|CLEC4M_ENST00000597522.1_3'UTR|CLEC4M_ENST00000357361.2_3'UTR|CLEC4M_ENST00000248228.4_Silent_p.I366I|CLEC4M_ENST00000334806.5_Silent_p.I337I|CLEC4M_ENST00000595496.1_Silent_p.I252I|CLEC4M_ENST00000359059.5_Silent_p.I321I|CLEC4M_ENST00000596363.1_3'UTR	p.I388I	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	WXS	Illumina HiSeq	Phase_I	Q9H2X3	CLC4M_HUMAN			7	1282	+			388			C-type lectin.		A6NKI4|A8K8B3|Q69F40|Q969M4|Q96QP3|Q96QP4|Q96QP5|Q96QP6|Q9BXS3|Q9H2Q9|Q9H8F0|Q9Y2A8	Silent	SNP	ENST00000327325.5	37	c.1164C>A	CCDS12187.1																																																																																				0.498	CLEC4M-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461161.1	0	NM_014257		19:7833838
SHROOM2	357	broad.mit.edu	37	X	9907312	9907312	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:9907312C>T	ENST00000380913.3	+	8	4307	c.4217C>T	c.(4216-4218)gCg>gTg	p.A1406V	SHROOM2_ENST00000418909.2_Missense_Mutation_p.A241V	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2. {ECO:0000255|PROSITE- ProRule:PRU00638}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCCCCCAAGGCGGAGCTGCTG	0.597																																						ENST00000380913.3		NA																	0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(4216-4218)gCg>gTg		shroom family member 2							58.0	43.0	48.0					X																	9907312		2203	4300	6503	SO:0001583	missense	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9907312C>T	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.4217C>T	X.37:g.9907312C>T	ENSP00000370299:p.Ala1406Val	False	False		Somatic	0				SHROOM2_ENST00000418909.2_Missense_Mutation_p.A241V	p.A1406V	NM_001649.2	NP_001640.1	WXS	Illumina HiSeq	Phase_I	Q13796	SHRM2_HUMAN			8	4307	+		Hepatocellular(5;0.000888)	1406			ASD2.		B9EIQ7	Missense_Mutation	SNP	ENST00000380913.3	37	c.4217C>T	CCDS14135.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166693	0.78339	.	.	ENSG00000146950	ENST00000380913;ENST00000418909;ENST00000452575;ENST00000540923	T;T;T	0.37235	1.21;1.21;1.21	5.44	5.44	0.79542	Apx/shroom, ASD2 (2);	0.058670	0.64402	N	0.000002	T	0.39733	0.1089	L	0.52206	1.635	0.58432	D	0.999999	B;B	0.33755	0.424;0.194	B;B	0.35727	0.209;0.041	T	0.35500	-0.9786	10	0.72032	D	0.01	-12.7128	18.4668	0.90758	0.0:1.0:0.0:0.0	.	241;1406	Q68DU3;Q13796	.;SHRM2_HUMAN	V	1406;241;241;241	ENSP00000370299:A1406V;ENSP00000415229:A241V;ENSP00000406724:A241V	ENSP00000370299:A1406V	A	+	2	0	SHROOM2	9867312	1.000000	0.71417	0.928000	0.36995	0.789000	0.44602	7.339000	0.79282	2.301000	0.77427	0.596000	0.82720	GCG		0.597	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	0	NM_001649		X:9907312
KCNK13	56659	broad.mit.edu	37	14	90650874	90650874	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:90650874G>T	ENST00000282146.4	+	2	1195	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	252					synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCCCACTATGAGAGCCAAGG	0.493																																						ENST00000282146.4		NA																	0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25						c.(754-756)Gag>Tag		potassium channel, subfamily K, member 13							116.0	104.0	108.0					14																	90650874		2203	4300	6503	SO:0001587	stop_gained	56659					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr14:90650874G>T	AF287303	CCDS9889.1	14q32.11	2012-03-07				ENSG00000152315		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6275	protein-coding gene	gene with protein product		607367				11060316, 16382106	Standard	NM_022054		Approved	K2p13.1, THIK-1, THIK1	uc001xye.1	Q9HB14		ENST00000282146.4:c.754G>T	14.37:g.90650874G>T	ENSP00000282146:p.Glu252*	False	False		Somatic	0					p.E252*	NM_022054.2	NP_071337.2	WXS	Illumina HiSeq	Phase_I	Q9HB14	KCNKD_HUMAN			2	1195	+		all_cancers(154;0.186)	252					B5TJL8|Q96E79	Nonsense_Mutation	SNP	ENST00000282146.4	37	c.754G>T	CCDS9889.1	.	.	.	.	.	.	.	.	.	.	G	32	5.158982	0.94686	.	.	ENSG00000152315	ENST00000282146	.	.	.	5.42	2.49	0.30216	.	0.955768	0.08571	N	0.926120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	8.8689	0.35303	0.1376:0.1231:0.7393:0.0	.	.	.	.	X	252	.	ENSP00000282146:E252X	E	+	1	0	KCNK13	89720627	0.999000	0.42202	0.003000	0.11579	0.127000	0.20565	4.148000	0.58085	0.655000	0.30866	-0.137000	0.14449	GAG		0.493	KCNK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411251.1	0	NM_022054		14:90650874
MIA3	375056	broad.mit.edu	37	1	222835427	222835427	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:222835427C>T	ENST00000344922.5	+	25	5168	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*	RP11-378J18.8_ENST00000608771.1_RNA|MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1715*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R593*	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1715	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCTCATCCTCGATGGTCAGC	0.443																																						ENST00000344922.5		NA																	0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5143-5145)Cga>Tga		melanoma inhibitory activity family, member 3							72.0	73.0	73.0					1																	222835427		1887	4103	5990	SO:0001587	stop_gained	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222835427C>T		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5143C>T	1.37:g.222835427C>T	ENSP00000340900:p.Arg1715*	False	False		Somatic	0				MIA3_ENST00000344441.6_Nonsense_Mutation_p.R1715*|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Nonsense_Mutation_p.R593*	p.R1715*	NM_198551.2	NP_940953.2	WXS	Illumina HiSeq	Phase_I	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	25	5168	+			1715			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Nonsense_Mutation	SNP	ENST00000344922.5	37	c.5143C>T	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	C	42	9.607272	0.99217	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471	.	.	.	5.14	1.59	0.23543	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.457	0.61204	0.5192:0.4808:0.0:0.0	.	.	.	.	X	1715;1715;1656;593;593	.	ENSP00000284471:R593X	R	+	1	2	MIA3	220902050	0.006000	0.16342	0.004000	0.12327	0.130000	0.20726	0.825000	0.27393	0.624000	0.30286	-0.181000	0.13052	CGA		0.443	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	0	NM_198551		1:222835427
ASTN2	23245	broad.mit.edu	37	9	119903693	119903693	+	Silent	SNP	G	G	A	rs115011238	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:119903693G>A	ENST00000313400.4	-	4	1180	c.1080C>T	c.(1078-1080)cgC>cgT	p.R360R	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000373996.3_Silent_p.R360R|ASTN2_ENST00000361209.2_Intron			O75129	ASTN2_HUMAN	astrotactin 2	360					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCGTGTTAGCGCGGAAACTCT	0.587													G|||	7	0.00139776	0.0053	0.0	5008	,	,		20221	0.0		0.0	False		,,,				2504	0.0					ENST00000313400.4		NA																	0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(1078-1080)cgC>cgT		astrotactin 2		G		16,4390	22.3+/-47.3	0,16,2187	103.0	85.0	91.0			-8.2	0.7	9	dbSNP_132	91	0,8600		0,0,4300	no	intron	ASTN2	NM_014010.4		0,16,6487	AA,AG,GG		0.0,0.3631,0.123			119903693	16,12990	2203	4300	6503	SO:0001819	synonymous_variant	23245					integral to membrane		g.chr9:119903693G>A	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1080C>T	9.37:g.119903693G>A		False	False		Somatic	0				ASTN2_ENST00000373996.3_Silent_p.R360R|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron	p.R360R			WXS	Illumina HiSeq	Phase_I	O75129	ASTN2_HUMAN			4	1180	-			360					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Silent	SNP	ENST00000313400.4	37	c.1080C>T																																																																																					0.587	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		0	NM_014010		9:119903693
CDH10	1008	broad.mit.edu	37	5	24535262	24535262	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:24535262G>A	ENST00000264463.4	-	5	1280	c.773C>T	c.(772-774)aCg>aTg	p.T258M		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	258	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCTGTCAGCGTGATGTTCAC	0.483										HNSCC(23;0.051)																												ENST00000264463.4		NA																	0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(772-774)aCg>aTg		cadherin 10, type 2 (T2-cadherin)							199.0	158.0	172.0					5																	24535262		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24535262G>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.773C>T	5.37:g.24535262G>A	ENSP00000264463:p.Thr258Met	False	False	HNSCC(23;0.051)	Somatic	0					p.T258M	NM_006727.3	NP_006718.2	WXS	Illumina HiSeq	Phase_I	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	5	1280	-			258			Cadherin 2.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.773C>T	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319154	0.60524	.	.	ENSG00000040731	ENST00000264463	T	0.03004	4.08	5.67	5.67	0.87782	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.14917	0.0360	L	0.52011	1.625	0.46478	D	0.99906	D	0.89917	1.0	D	0.71184	0.972	T	0.00062	-1.2157	10	0.66056	D	0.02	.	18.738	0.91763	0.0:0.0:1.0:0.0	.	258	Q9Y6N8	CAD10_HUMAN	M	258	ENSP00000264463:T258M	ENSP00000264463:T258M	T	-	2	0	CDH10	24571019	1.000000	0.71417	0.996000	0.52242	0.246000	0.25737	7.884000	0.87274	2.674000	0.91012	0.591000	0.81541	ACG		0.483	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	0	NM_006727		5:24535262
ERBB4	2066	broad.mit.edu	37	2	212589903	212589903	+	Silent	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:212589903A>G	ENST00000342788.4	-	6	949	c.639T>C	c.(637-639)tgT>tgC	p.C213C	ERBB4_ENST00000402597.1_Silent_p.C213C|ERBB4_ENST00000436443.1_Silent_p.C213C|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	213	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATTGTTCTGCACACACCGTCC	0.507										TSP Lung(8;0.080)																												ENST00000342788.4		NA																	0				NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(637-639)tgT>tgC		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							139.0	121.0	127.0					2																	212589903		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212589903A>G	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.639T>C	2.37:g.212589903A>G		True	False	TSP Lung(8;0.080)	Somatic	0				ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Silent_p.C213C|ERBB4_ENST00000436443.1_Silent_p.C213C	p.C213C	NM_005235.2	NP_005226.1	WXS	Illumina HiSeq	Phase_I	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	6	949	-		Renal(323;0.06)|Lung NSC(271;0.197)	213			Cys-rich.		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.639T>C	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.513447	0.27123	.	.	ENSG00000178568	ENST00000260943	.	.	.	5.73	3.36	0.38483	.	.	.	.	.	T	0.57873	0.2083	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53365	-0.8449	4	.	.	.	.	8.2245	0.31560	0.7842:0.0:0.2158:0.0	.	.	.	.	A	213	.	.	V	-	2	0	ERBB4	212298148	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.777000	0.38604	0.983000	0.38602	0.528000	0.53228	GTG		0.507	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	0	NM_001042599		2:212589903
DDX4	54514	broad.mit.edu	37	5	55059848	55059848	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:55059848C>G	ENST00000505374.1	+	6	382	c.290C>G	c.(289-291)tCa>tGa	p.S97*	DDX4_ENST00000511853.1_5'Flank|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S97*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S97*|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S97*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	97	Gly-rich.				male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAGGTTTTTCAAACAGCAGG	0.318																																						ENST00000505374.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24						c.(289-291)tCa>tGa		DEAD (Asp-Glu-Ala-Asp) box polypeptide 4							131.0	134.0	133.0					5																	55059848		2203	4300	6503	SO:0001587	stop_gained	54514				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr5:55059848C>G	AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.290C>G	5.37:g.55059848C>G	ENSP00000424838:p.Ser97*	True	False		Somatic	0				DDX4_ENST00000354991.5_Nonsense_Mutation_p.S97*|DDX4_ENST00000514278.2_Nonsense_Mutation_p.S97*|DDX4_ENST00000508580.1_3'UTR|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S97*	p.S97*	NM_024415.2	NP_077726.1	WXS	Illumina HiSeq	Phase_I	Q9NQI0	DDX4_HUMAN			6	382	+		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)	97			Gly-rich.		A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Nonsense_Mutation	SNP	ENST00000505374.1	37	c.290C>G	CCDS3969.1	.	.	.	.	.	.	.	.	.	.	C	35	5.473344	0.96274	.	.	ENSG00000152670	ENST00000353507;ENST00000514278;ENST00000505374;ENST00000506511;ENST00000515709;ENST00000506848;ENST00000514679;ENST00000354991;ENST00000511491	.	.	.	4.82	2.93	0.34026	.	1.124900	0.06856	N	0.798125	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-22.8246	5.4174	0.16382	0.0:0.7133:0.0:0.2867	.	.	.	.	X	97;97;97;97;71;97;97;97;97	.	ENSP00000334167:S97X	S	+	2	0	DDX4	55095605	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.097000	0.30988	0.534000	0.28695	0.591000	0.81541	TCA		0.318	DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	0	NM_024415		5:55059848
VCAN	1462	broad.mit.edu	37	5	82835841	82835841	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:82835841G>A	ENST00000265077.3	+	8	7584	c.7019G>A	c.(7018-7020)gGa>gAa	p.G2340E	VCAN_ENST00000342785.4_Intron|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.G1353E|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2340	GAG-beta.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGTGACACTGGAGCAGAAGGA	0.468																																						ENST00000265077.3		NA																	0				NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190						c.(7018-7020)gGa>gAa		versican							94.0	89.0	90.0					5																	82835841		2203	4300	6503	SO:0001583	missense	1462				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr5:82835841G>A	X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.7019G>A	5.37:g.82835841G>A	ENSP00000265077:p.Gly2340Glu	False	False		Somatic	0				VCAN_ENST00000512590.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.G1353E	p.G2340E	NM_004385.4	NP_004376.2	WXS	Illumina HiSeq	Phase_I	P13611	CSPG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	8	7584	+		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)	2340			GAG-beta.		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	ENST00000265077.3	37	c.7019G>A	CCDS4060.1	.	.	.	.	.	.	.	.	.	.	G	4.418	0.077349	0.08485	.	.	ENSG00000038427	ENST00000265077;ENST00000343200	T;T	0.13089	2.62;2.62	6.07	2.27	0.28462	.	0.514767	0.19096	N	0.122838	T	0.12050	0.0293	L	0.38175	1.15	0.09310	N	1	P;B	0.40515	0.719;0.1	B;B	0.44085	0.44;0.036	T	0.16748	-1.0392	10	0.24483	T	0.36	.	7.4303	0.27124	0.1416:0.2539:0.6045:0.0	.	1353;2340	P13611-2;P13611	.;CSPG2_HUMAN	E	2340;1353	ENSP00000265077:G2340E;ENSP00000340062:G1353E	ENSP00000265077:G2340E	G	+	2	0	VCAN	82871597	0.033000	0.19621	0.000000	0.03702	0.040000	0.13550	0.946000	0.29069	0.445000	0.26639	0.650000	0.86243	GGA		0.468	VCAN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254092.3	0	NM_004385		5:82835841
ATP8A1	10396	broad.mit.edu	37	4	42627669	42627669	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:42627669C>T	ENST00000381668.5	-	3	457	c.226G>A	c.(226-228)Gct>Act	p.A76T	ATP8A1_ENST00000264449.10_Missense_Mutation_p.A76T|ATP8A1_ENST00000510289.1_3'UTR	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	76					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATTAGCAGCTCTTCTGAAC	0.353																																						ENST00000381668.5		NA																	0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(226-228)Gct>Act		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						96.0	97.0	97.0					4																	42627669		2203	4300	6503	SO:0001583	missense	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42627669C>T	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.226G>A	4.37:g.42627669C>T	ENSP00000371084:p.Ala76Thr	False	False		Somatic	0				ATP8A1_ENST00000264449.10_Missense_Mutation_p.A76T|ATP8A1_ENST00000510289.1_3'UTR	p.A76T	NM_006095.2	NP_006086.1	WXS	Illumina HiSeq	Phase_I	Q9Y2Q0	AT8A1_HUMAN			3	457	-			76					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	c.226G>A	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644594	0.67358	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.54479	0.57;0.57	5.8	5.8	0.92144	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	T	0.66137	0.2759	L	0.39467	1.215	0.80722	D	1	D;B;B	0.63880	0.993;0.35;0.209	D;B;B	0.68192	0.956;0.299;0.097	T	0.61377	-0.7075	10	0.41790	T	0.15	.	20.418	0.99029	0.0:1.0:0.0:0.0	.	76;76;76	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	T	76	ENSP00000371084:A76T;ENSP00000264449:A76T	ENSP00000264449:A76T	A	-	1	0	ATP8A1	42322426	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	7.370000	0.79589	2.902000	0.99343	0.650000	0.86243	GCT		0.353	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	0	NM_006095		4:42627669
PAIP2B	400961	broad.mit.edu	37	2	71417026	71417026	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:71417026C>T	ENST00000244221.8	-	3	430	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_020459.1	NP_065192.1	Q9ULR5	PAI2B_HUMAN	poly(A) binding protein interacting protein 2B	88					negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)	translation repressor activity, nucleic acid binding (GO:0000900)			large_intestine(1)|lung(1)	2						CATTTAACTGCTGTTGCAACT	0.453																																						ENST00000244221.8		NA																	0				large_intestine(1)|lung(1)	2						c.(262-264)caG>caA		poly(A) binding protein interacting protein 2B							61.0	58.0	59.0					2																	71417026		1952	4158	6110	SO:0001819	synonymous_variant	400961				negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding	g.chr2:71417026C>T		CCDS46322.1	2p13.3	2007-07-16			ENSG00000124374	ENSG00000124374			29200	protein-coding gene	gene with protein product		611018				16804161	Standard	NM_020459		Approved	KIAA1155	uc002shu.2	Q9ULR5	OTTHUMG00000153284	ENST00000244221.8:c.264G>A	2.37:g.71417026C>T		False	False		Somatic	0					p.Q88Q	NM_020459.1	NP_065192.1	WXS	Illumina HiSeq	Phase_I	Q9ULR5	PAI2B_HUMAN			3	430	-			88						Silent	SNP	ENST00000244221.8	37	c.264G>A	CCDS46322.1																																																																																				0.453	PAIP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330547.2	0	XM_376062		2:71417026
MAP2	4133	broad.mit.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	C	T	rs146432517		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210559008C>T	ENST00000360351.4	+	7	2620	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	705			P -> L (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.P705L(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	ATCAATTTGCCGATGTCTTGC	0.438																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4		NA																	1	Substitution - Missense(1)	p.P705L(1)	large_intestine(1)	breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2113-2115)cCg>cTg		microtubule-associated protein 2	Estramustine(DB01196)	C	,LEU/PRO,,	0,4406		0,0,2203	241.0	231.0	234.0		,2114,,	6.1	1.0	2	dbSNP_134	234	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense,intron,intron	MAP2	NM_001039538.1,NM_002374.3,NM_031845.2,NM_031847.2	,98,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging,,	,705/1828,,	210559008	1,13005	2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559008C>T		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2114C>T	2.37:g.210559008C>T	ENSP00000353508:p.Pro705Leu	False	False		Somatic	0				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.P701L|MAP2_ENST00000392194.1_Intron	p.P705L	NM_002374.3	NP_002365.3	WXS	Illumina HiSeq	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2620	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	705		P -> L (in a colorectal cancer sample; somatic mutation).			Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2114C>T	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342024	0.81911	0.0	1.16E-4	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.28666	1.6;1.6	6.06	6.06	0.98353	MAP2/Tau projection (1);	0.000000	0.64402	D	0.000006	T	0.55832	0.1945	L	0.59436	1.845	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.977;0.987	T	0.52682	-0.8543	10	0.87932	D	0	-13.3508	20.6244	0.99512	0.0:1.0:0.0:0.0	.	701;705	P11137-3;P11137	.;MAP2_HUMAN	L	705;701	ENSP00000353508:P705L;ENSP00000392164:P701L	ENSP00000353508:P705L	P	+	2	0	MAP2	210267253	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.238000	0.78173	2.879000	0.98667	0.650000	0.86243	CCG		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	0	NM_001039538		2:210559008
MEGF6	1953	broad.mit.edu	37	1	3415047	3415047	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:3415047G>A	ENST00000356575.4	-	26	3466	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	MEGF6_ENST00000294599.4_Silent_p.D889D	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1080						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGCTCTGACGTCCCGGGGGA	0.706																																					Ovarian(73;978 3658)	ENST00000356575.4		NA																	0				cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(3238-3240)gaC>gaT		multiple EGF-like-domains 6																																				SO:0001819	synonymous_variant	1953					extracellular region	calcium ion binding	g.chr1:3415047G>A	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3240C>T	1.37:g.3415047G>A		False	False		Somatic	0				MEGF6_ENST00000294599.4_Silent_p.D889D	p.D1080D	NM_001409.3	NP_001400.3	WXS	Illumina HiSeq	Phase_I	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	26	3466	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	1080					Q4AC86|Q5VV39	Silent	SNP	ENST00000356575.4	37	c.3240C>T	CCDS41237.1																																																																																				0.706	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	0	NM_001409		1:3415047
OR10K1	391109	broad.mit.edu	37	1	158435756	158435756	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:158435756C>T	ENST00000289451.2	+	1	485	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	135						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)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTCAGTGCTCATGGGACATG	0.547																																						ENST00000289451.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27						c.(403-405)ctC>ctT		olfactory receptor, family 10, subfamily K, member 1							214.0	201.0	206.0					1																	158435756		2203	4300	6503	SO:0001819	synonymous_variant	391109				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158435756C>T	AP002532	CCDS30897.1	1q23.1	2012-08-09			ENSG00000173285	ENSG00000173285		"""GPCR / Class A : Olfactory receptors"""	14693	protein-coding gene	gene with protein product							Standard	NM_001004473		Approved		uc010pij.2	Q8NGX5	OTTHUMG00000017517	ENST00000289451.2:c.405C>T	1.37:g.158435756C>T		False	False		Somatic	0					p.L135L	NM_001004473.1	NP_001004473.1	WXS	Illumina HiSeq	Phase_I	Q8NGX5	O10K1_HUMAN			1	485	+	all_hematologic(112;0.0378)		135					Q6IFS2	Silent	SNP	ENST00000289451.2	37	c.405C>T	CCDS30897.1																																																																																				0.547	OR10K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046367.1	0			1:158435756
ZSCAN1	284312	broad.mit.edu	37	19	58549468	58549468	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:58549468C>T	ENST00000282326.1	+	3	511	c.264C>T	c.(262-264)ggC>ggT	p.G88G	ZSCAN1_ENST00000601162.1_Silent_p.G88G|ZSCAN1_ENST00000391700.1_Silent_p.G88G	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	88	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTTCCTGGGCGCGCTGCCCA	0.697																																						ENST00000282326.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(262-264)ggC>ggT		zinc finger and SCAN domain containing 1							17.0	18.0	18.0					19																	58549468		2197	4294	6491	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549468C>T	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.264C>T	19.37:g.58549468C>T		True	False		Somatic	0				ZSCAN1_ENST00000601162.1_Silent_p.G88G|ZSCAN1_ENST00000391700.1_Silent_p.G88G	p.G88G	NM_182572.3	NP_872378.3	WXS	Illumina HiSeq	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	511	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	88			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.264C>T	CCDS12969.1																																																																																				0.697	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	0	NM_182572		19:58549468
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	G	A	rs148427416		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:43155033G>A	ENST00000252050.4	+	6	1521	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	479					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						ACCCTTTGCCGTACCTCCAGC	0.532																																						ENST00000252050.4		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.(1435-1437)ccG>ccA		cullin 9		G		0,4406		0,0,2203	163.0	155.0	157.0		1437	-2.6	1.0	6	dbSNP_134	157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CUL9	NM_015089.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		479/2518	43155033	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155033G>A	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	ENST00000252050.4:c.1437G>A	6.37:g.43155033G>A		False	False		Somatic	0				CUL9_ENST00000372647.2_Silent_p.P479P|CUL9_ENST00000354495.3_Intron	p.P479P	NM_015089.2	NP_055904.1	WXS	Illumina HiSeq	Phase_I	Q8IWT3	CUL9_HUMAN			6	1521	+			479					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.1437G>A	CCDS4890.1																																																																																				0.532	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	0	NM_015089		6:43155033
OBSL1	23363	broad.mit.edu	37	2	220420834	220420834	+	Missense_Mutation	SNP	C	C	T	rs138086602		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:220420834C>T	ENST00000404537.1	-	14	4573	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	OBSL1_ENST00000373876.1_Missense_Mutation_p.R1414H|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1373T|OBSL1_ENST00000603926.1_Missense_Mutation_p.R1506H|RP11-256I23.2_ENST00000597192.1_RNA|OBSL1_ENST00000265317.5_Missense_Mutation_p.R405H	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1506	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)	p.R1506H(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGAAGAGGCGGTGGATGTG	0.697																																						ENST00000404537.1		NA																	1	Substitution - Missense(1)	p.R1506H(1)	central_nervous_system(1)		NA						c.(4516-4518)cGc>cAc		obscurin-like 1							31.0	37.0	35.0					2																	220420834		2101	4216	6317	SO:0001583	missense	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220420834C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4517G>A	2.37:g.220420834C>T	ENSP00000385636:p.Arg1506His	False	False		Somatic	0				OBSL1_ENST00000603926.1_Missense_Mutation_p.R1506H|OBSL1_ENST00000265317.5_Missense_Mutation_p.R405H|OBSL1_ENST00000265318.4_Missense_Mutation_p.A1373T|OBSL1_ENST00000373876.1_Missense_Mutation_p.R1414H	p.R1506H	NM_015311.2	NP_056126.1	WXS	Illumina HiSeq	Phase_I	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	14	4573	-		Renal(207;0.0376)	1506			Ig-like 12.		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	ENST00000404537.1	37	c.4517G>A	CCDS46520.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.0|24.0	4.478052|4.478052	0.84747|0.84747	.|.	.|.	ENSG00000124006|ENSG00000124006	ENST00000265318;ENST00000456147|ENST00000404537;ENST00000373876;ENST00000265317	T|T;T;T	0.57273|0.67865	0.41|-0.29;-0.29;-0.29	4.49|4.49	4.49|4.49	0.54785|0.54785	.|Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.73458|0.73458	0.3589|0.3589	L|L	0.39147|0.39147	1.195|1.195	0.22940|0.22940	N|N	0.998532|0.998532	.|D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.999	.|D;D;D;D	.|0.74674	.|0.964;0.977;0.982;0.984	T|T	0.62642|0.62642	-0.6811|-0.6811	7|9	0.06099|0.45353	T|T	0.92|0.12	.|.	11.9214|11.9214	0.52793|0.52793	0.0:0.6679:0.3321:0.0|0.0:0.6679:0.3321:0.0	.|.	.|313;1507;1506;405	.|B7Z5P5;A4KVA4;O75147;E7ER99	.|.;.;OBSL1_HUMAN;.	T|H	1373;408|1506;1414;405	ENSP00000265318:A1373T|ENSP00000385636:R1506H;ENSP00000362983:R1414H;ENSP00000265317:R405H	ENSP00000265318:A1373T|ENSP00000265317:R405H	A|R	-|-	1|2	0|0	OBSL1|OBSL1	220129078|220129078	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.943000|0.943000	0.58893|0.58893	2.024000|2.024000	0.41049|0.41049	2.327000|2.327000	0.79052|0.79052	0.491000|0.491000	0.48974|0.48974	GCC|CGC		0.697	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1	0			2:220420834
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26243817G>T	ENST00000265944.5	+	4	349	c.183G>T	c.(181-183)gaG>gaT	p.E61D	MYO3A_ENST00000376301.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376302.1_Missense_Mutation_p.E61D|MYO3A_ENST00000543632.1_Missense_Mutation_p.E61D	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	61	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323																																						ENST00000265944.5		NA																	0				NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(181-183)gaG>gaT		myosin IIIA							109.0	112.0	111.0					10																	26243817		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26243817G>T	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.183G>T	10.37:g.26243817G>T	ENSP00000265944:p.Glu61Asp	False	False		Somatic	0				MYO3A_ENST00000376301.1_Missense_Mutation_p.E61D|MYO3A_ENST00000543632.1_Missense_Mutation_p.E61D|MYO3A_ENST00000376302.1_Missense_Mutation_p.E61D	p.E61D	NM_017433.4	NP_059129.3	WXS	Illumina HiSeq	Phase_I	Q8NEV4	MYO3A_HUMAN			4	349	+			61			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.183G>T	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918823	0.73098	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632;ENST00000376301	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	6.0	3.15	0.36227	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67692	0.2920	N	0.20401	0.57	0.58432	D	0.999992	D;D;D;D	0.89917	0.957;0.965;1.0;0.978	P;D;D;D	0.97110	0.904;0.942;1.0;0.979	T	0.71122	-0.4684	10	0.72032	D	0.01	.	10.9035	0.47067	0.2392:0.0:0.7608:0.0	.	61;61;61;61	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	D	61	ENSP00000265944:E61D;ENSP00000365479:E61D;ENSP00000445909:E61D;ENSP00000365478:E61D	ENSP00000265944:E61D	E	+	3	2	MYO3A	26283823	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.128000	0.42045	1.558000	0.49541	0.643000	0.83706	GAG		0.323	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	0	NM_017433		10:26243817
CEP170B	283638	broad.mit.edu	37	14	105346747	105346747	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:105346747C>T	ENST00000414716.3	+	6	685	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	CEP170B_ENST00000418279.1_Missense_Mutation_p.R83W|CEP170B_ENST00000453495.1_Missense_Mutation_p.R153W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R83W	NM_001112726.2	NP_001106197.1	Q9Y4F5	C170B_HUMAN	centrosomal protein 170B	153						cytoplasm (GO:0005737)|microtubule (GO:0005874)											GAAGGGGGACCGGAGACCAGG	0.667																																						ENST00000453495.1		NA																	0					NA						c.(457-459)Cgg>Tgg		centrosomal protein 170B							48.0	67.0	61.0					14																	105346747		2131	4229	6360	SO:0001583	missense	283638							g.chr14:105346747C>T	AB006622	CCDS45175.1, CCDS45176.1, CCDS45176.2	14q32.33	2014-02-20	2012-11-30	2012-11-30	ENSG00000099814	ENSG00000099814			20362	protein-coding gene	gene with protein product	"""Cep170-related"""		"""KIAA0284"""	KIAA0284		23087211	Standard	NM_015005		Approved	FAM68C, Cep170R	uc010axb.4	Q9Y4F5	OTTHUMG00000170763	ENST00000414716.3:c.457C>T	14.37:g.105346747C>T	ENSP00000404151:p.Arg153Trp	False	False		Somatic	0				CEP170B_ENST00000414716.3_Missense_Mutation_p.R153W|CEP170B_ENST00000418279.1_Missense_Mutation_p.R83W|CEP170B_ENST00000556508.1_Missense_Mutation_p.R83W	p.R153W			WXS	Illumina HiSeq	Phase_I					6	685	+			NA					Q2KHR7|Q86TI7	Missense_Mutation	SNP	ENST00000414716.3	37	c.457C>T	CCDS45175.1	.	.	.	.	.	.	.	.	.	.	C	17.31	3.358394	0.61403	.	.	ENSG00000099814	ENST00000556508;ENST00000414716;ENST00000453495;ENST00000418279	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	4.21	4.21	0.49690	.	0.074599	0.47455	D	0.000226	T	0.58466	0.2124	M	0.66939	2.045	0.33258	D	0.559355	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75020	0.985;0.976;0.984	T	0.70234	-0.4928	10	0.87932	D	0	-29.2601	9.6859	0.40098	0.2719:0.7281:0.0:0.0	.	153;153;83	Q9Y4F5-2;Q9Y4F5;E9PFC1	.;K0284_HUMAN;.	W	83;153;153;83	ENSP00000451249:R83W;ENSP00000404151:R153W;ENSP00000407238:R153W;ENSP00000415006:R83W	ENSP00000404151:R153W	R	+	1	2	KIAA0284	104417792	1.000000	0.71417	0.990000	0.47175	0.781000	0.44180	2.887000	0.48586	2.167000	0.68274	0.313000	0.20887	CGG		0.667	CEP170B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000410289.2	0	NM_001112726		14:105346747
NBPF1	55672	broad.mit.edu	37	1	16918794	16918794	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:16918794G>A	ENST00000430580.2	-	0	712					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTGGCCAGCGTGCCAGGTAA	0.502																																						ENST00000430580.2		NA																	0					NA								neuroblastoma breakpoint family, member 1																																						55672					cytoplasm		g.chr1:16918794G>A	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487		1.37:g.16918794G>A		False	False		Somatic	0						NM_017940.3	NP_060410.2	WXS	Illumina HiSeq	Phase_I	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	0	712	-			NA					Q8N4E8|Q9C0H0	Translation_Start_Site	SNP	ENST00000430580.2	37																																																																																						0.502	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	0	NM_017940		1:16918794
FOXS1	2307	broad.mit.edu	37	20	30432695	30432695	+	Silent	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:30432695C>T	ENST00000375978.3	-	1	725	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	217					blood vessel development (GO:0001568)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|neuromuscular process controlling balance (GO:0050885)|positive regulation of multicellular organism growth (GO:0040018)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAAGCCAAACGCTGGGCATG	0.617																																						ENST00000375978.3		NA																	0				kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						c.(649-651)gcG>gcA		forkhead box S1							45.0	45.0	45.0					20																	30432695		2203	4300	6503	SO:0001819	synonymous_variant	2307				anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr20:30432695C>T	AF042831	CCDS13192.1	20q11.1-q11.2	2008-04-10	2008-04-10	2008-04-10	ENSG00000179772	ENSG00000179772		"""Forkhead boxes"""	3735	protein-coding gene	gene with protein product		602939	"""forkhead (Drosophila)-like 18"", ""forkhead-like 18 (Drosophila)"""	FKHL18		9325056, 17062144	Standard	NM_004118		Approved	FREAC10	uc002wwt.1	O43638	OTTHUMG00000032183	ENST00000375978.3:c.651G>A	20.37:g.30432695C>T		True	False		Somatic	0					p.A217A	NM_004118.3	NP_004109.1	WXS	Illumina HiSeq	Phase_I	O43638	FOXS1_HUMAN			1	725	-			217					Q96D28	Silent	SNP	ENST00000375978.3	37	c.651G>A	CCDS13192.1																																																																																				0.617	FOXS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078560.2	0	NM_004118		20:30432695
NLRP3	114548	broad.mit.edu	37	1	247592989	247592989	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247592989G>A	ENST00000336119.3	+	4	3005	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	NLRP3_ENST00000366497.2_Silent_p.L753L|NLRP3_ENST00000391828.3_Silent_p.L753L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000366496.2_Silent_p.L753L	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	753					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAATTCTCTGGGGGACCCAG	0.527																																						ENST00000366497.2		NA																	0				NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(2257-2259)ctG>ctA		NLR family, pyrin domain containing 3							99.0	94.0	96.0					1																	247592989		2203	4300	6503	SO:0001819	synonymous_variant	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247592989G>A	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2259G>A	1.37:g.247592989G>A		True	False		Somatic	0				NLRP3_ENST00000391827.2_Intron|NLRP3_ENST00000336119.3_Silent_p.L753L|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000391828.3_Silent_p.L753L|NLRP3_ENST00000366496.2_Silent_p.L753L	p.L753L	NM_001127461.2	NP_001120933.1	WXS	Illumina HiSeq	Phase_I	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		5	3039	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	810					B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Silent	SNP	ENST00000336119.3	37	c.2259G>A	CCDS1632.1																																																																																				0.527	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1	0	NM_004895		1:247592989
GIF	2694	broad.mit.edu	37	11	59596985	59596985	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:59596985T>C	ENST00000257248.2	-	9	1273	c.1226A>G	c.(1225-1227)cAc>cGc	p.H409R	GIF_ENST00000541311.1_Missense_Mutation_p.H384R	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	409					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	GGCTGTGATGTGCTCGTGGTT	0.443																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1		NA																	0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1150-1152)cAc>cGc		gastric intrinsic factor (vitamin B synthesis)							224.0	175.0	192.0					11																	59596985		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59596985T>C	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.1226A>G	11.37:g.59596985T>C	ENSP00000257248:p.His409Arg	False	False		Somatic	0				GIF_ENST00000257248.2_Missense_Mutation_p.H409R	p.H384R			WXS	Illumina HiSeq	Phase_I	P27352	IF_HUMAN			9	1385	-			409					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.1151A>G	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.182767	0.78677	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.41065	1.1;1.01	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.52435	0.1734	L	0.50333	1.59	0.44439	D	0.997368	D	0.71674	0.998	P	0.57283	0.817	T	0.51631	-0.8681	10	0.48119	T	0.1	-27.71	13.0268	0.58819	0.0:0.0:0.0:1.0	.	409	P27352	IF_HUMAN	R	409;384	ENSP00000257248:H409R;ENSP00000440427:H384R	ENSP00000257248:H409R	H	-	2	0	GIF	59353561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.670000	0.54569	2.330000	0.79161	0.477000	0.44152	CAC		0.443	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	0	NM_005142		11:59596985
TRMT1	55621	broad.mit.edu	37	19	13227177	13227177	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:13227177G>A	ENST00000592062.1	-	3	607	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	TRMT1_ENST00000357720.4_Missense_Mutation_p.R13C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R13C|NACC1_ENST00000292431.4_5'Flank|TRMT1_ENST00000437766.1_Missense_Mutation_p.R13C|TRMT1_ENST00000592892.1_5'UTR			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	13							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGGCGGAGCGGAAAGTGAGG	0.657																																						ENST00000592062.1		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(37-39)Cgc>Tgc		tRNA methyltransferase 1 homolog (S. cerevisiae)							40.0	46.0	44.0					19																	13227177		2202	4300	6502	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13227177G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.37C>T	19.37:g.13227177G>A	ENSP00000466967:p.Arg13Cys	True	False		Somatic	0				TRMT1_ENST00000592892.1_5'UTR|TRMT1_ENST00000221504.8_Missense_Mutation_p.R13C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R13C|TRMT1_ENST00000357720.4_Missense_Mutation_p.R13C	p.R13C			WXS	Illumina HiSeq	Phase_I	Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	3	607	-			13					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.37C>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396554	0.42512	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	5.28	3.15	0.36227	.	0.180442	0.31772	N	0.007085	T	0.34366	0.0895	L	0.27053	0.805	0.19300	N	0.999976	D;D	0.71674	0.998;0.997	P;P	0.53861	0.736;0.548	T	0.10064	-1.0646	9	0.72032	D	0.01	-15.9499	8.3666	0.32391	0.1833:0.0:0.8167:0.0	.	13;13	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	C	13	.	ENSP00000221504:R13C	R	-	1	0	TRMT1	13088177	0.973000	0.33851	0.106000	0.21319	0.003000	0.03518	2.511000	0.45476	0.728000	0.32382	-0.140000	0.14226	CGC		0.657	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	0	NM_017722		19:13227177
FLT3	2322	broad.mit.edu	37	13	28622533	28622533	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:28622533C>T	ENST00000241453.7	-	9	1165	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	FLT3_ENST00000380982.4_Missense_Mutation_p.D362N|FLT3_ENST00000537084.1_Missense_Mutation_p.D362N	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	362					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCATATTGGTCAATTTCATAA	0.323			"""Mis, O"""		"""AML, ALL"""																																	ENST00000380982.4		NA		Dom	yes		13	13q12	2322	"""Mis, O"""	fms-related tyrosine kinase 3			L			"""AML, ALL"""		0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390						c.(1084-1086)Gac>Aac		fms-related tyrosine kinase 3	Sorafenib(DB00398)|Sunitinib(DB01268)						97.0	96.0	96.0					13																	28622533		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28622533C>T	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1084G>A	13.37:g.28622533C>T	ENSP00000241453:p.Asp362Asn	False	False		Somatic	0				FLT3_ENST00000537084.1_Missense_Mutation_p.D362N|FLT3_ENST00000241453.7_Missense_Mutation_p.D362N	p.D362N			WXS	Illumina HiSeq	Phase_I	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	9	1165	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	362					A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1084G>A	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896911	0.52121	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.76060	-0.92;-0.99;-0.7	5.45	5.45	0.79879	Immunoglobulin-like fold (1);	0.263771	0.32901	N	0.005511	T	0.69931	0.3166	L	0.27053	0.805	0.34801	D	0.736766	D;D	0.58620	0.966;0.983	P;P	0.51742	0.678;0.58	T	0.69412	-0.5152	10	0.10111	T	0.7	.	17.4634	0.87626	0.0:1.0:0.0:0.0	.	362;362	P36888-2;P36888	.;FLT3_HUMAN	N	362	ENSP00000241453:D362N;ENSP00000370369:D362N;ENSP00000438139:D362N	ENSP00000241453:D362N	D	-	1	0	FLT3	27520533	1.000000	0.71417	1.000000	0.80357	0.735000	0.41995	3.429000	0.52800	2.572000	0.86782	0.462000	0.41574	GAC		0.323	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2	0			13:28622533
ATL1	51062	broad.mit.edu	37	14	51094836	51094836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:51094836C>T	ENST00000358385.6	+	12	1448	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	ATL1_ENST00000354525.4_Nonsense_Mutation_p.R403*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.R403*|ATL1_ENST00000441560.2_Nonsense_Mutation_p.R403*	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	403					axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GAAGCTATTCCGAGGGGTGAA	0.443																																						ENST00000441560.2		NA																	0				central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						c.(1207-1209)Cga>Tga		atlastin GTPase 1							90.0	90.0	90.0					14																	51094836		2203	4300	6503	SO:0001587	stop_gained	51062				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding	g.chr14:51094836C>T	AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.1207C>T	14.37:g.51094836C>T	ENSP00000351155:p.Arg403*	False	False		Somatic	0				ATL1_ENST00000354525.4_Nonsense_Mutation_p.R403*|ATL1_ENST00000358385.6_Nonsense_Mutation_p.R403*|ATL1_ENST00000357032.3_Nonsense_Mutation_p.R403*	p.R403*	NM_001127713.1	NP_001121185.1	WXS	Illumina HiSeq	Phase_I	Q8WXF7	ATLA1_HUMAN			13	1688	+			403					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Nonsense_Mutation	SNP	ENST00000358385.6	37	c.1207C>T	CCDS9700.1	.	.	.	.	.	.	.	.	.	.	C	40	8.204160	0.98704	.	.	ENSG00000198513	ENST00000441560;ENST00000358385;ENST00000357032;ENST00000354525	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-6.6736	19.2865	0.94077	0.0:1.0:0.0:0.0	.	.	.	.	X	403	.	ENSP00000346522:R403X	R	+	1	2	ATL1	50164586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.936000	0.63506	2.802000	0.96397	0.655000	0.94253	CGA		0.443	ATL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276884.2	0			14:51094836
CCDC18	343099	broad.mit.edu	37	1	93672842	93672842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:93672842G>T	ENST00000343253.7	+	9	1598	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CCDC18_ENST00000557479.1_Nonsense_Mutation_p.E484*|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.E366*|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.E165*|CCDC18_ENST00000334652.5_5'UTR			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	366										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAAACCGAGAATTAAAGGT	0.333																																						ENST00000343253.7		NA																	0				breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42						c.(1096-1098)Gaa>Taa		coiled-coil domain containing 18							74.0	70.0	71.0					1																	93672842		1835	4091	5926	SO:0001587	stop_gained	343099							g.chr1:93672842G>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.1096G>T	1.37:g.93672842G>T	ENSP00000343377:p.Glu366*	False	False		Somatic	0				CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000401026.3_Nonsense_Mutation_p.E366*|CCDC18_ENST00000338949.4_Nonsense_Mutation_p.E165*|CCDC18_ENST00000557479.1_Nonsense_Mutation_p.E484*	p.E366*			WXS	Illumina HiSeq	Phase_I	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	9	1598	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	366					Q6ZU17	Nonsense_Mutation	SNP	ENST00000343253.7	37	c.1096G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.984821|5.984821	0.97173|0.97173	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000370276|ENST00000343253;ENST00000401026;ENST00000557479;ENST00000338949;ENST00000455267	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	0.164121|0.164121	0.52532|0.52532	D|D	0.000077|0.000077	T|.	0.59783|.	0.2219|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.53085|.	-0.8488|.	5|.	.|0.22109	.|T	.|0.4	.|.	18.2995|18.2995	0.90158|0.90158	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	419|366;366;484;165;86	.|.	.|ENSP00000344380:E165X	E|E	+|+	3|1	2|0	CCDC18|CCDC18	93445430|93445430	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	4.263000|4.263000	0.58853|0.58853	2.763000|2.763000	0.94921|0.94921	0.555000|0.555000	0.69702|0.69702	GAG|GAA		0.333	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	0	NM_206886		1:93672842
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		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.chr12:25398284C>T	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.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	p.G12D	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	226	-	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.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	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		12:25398284
ZNF75A	7627	broad.mit.edu	37	16	3367798	3367798	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:3367798A>G	ENST00000574298.1	+	6	1293	c.820A>G	c.(820-822)Act>Gct	p.T274A	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCATATACTTGTAGCAT	0.463																																						ENST00000574298.1		NA																	0				breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						c.(820-822)Act>Gct		zinc finger protein 75a							65.0	68.0	67.0					16																	3367798		2197	4300	6497	SO:0001583	missense	7627				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:3367798A>G	X91826	CCDS10501.1	16p13.11	2013-01-08			ENSG00000162086	ENSG00000162086		"""Zinc fingers, C2H2-type"", ""-"""	13146	protein-coding gene	gene with protein product		601473				8661144	Standard	NM_153028		Approved	FLJ31529	uc002cut.4	Q96N20	OTTHUMG00000129356	ENST00000574298.1:c.820A>G	16.37:g.3367798A>G	ENSP00000459566:p.Thr274Ala	False	False		Somatic	0				ZNF75A_ENST00000498240.2_3'UTR	p.T274A	NM_153028.2	NP_694573.1	WXS	Illumina HiSeq	Phase_I	Q96N20	ZN75A_HUMAN			6	1293	+			274					Q0VDI8|Q92669	Missense_Mutation	SNP	ENST00000574298.1	37	c.820A>G	CCDS10501.1	.	.	.	.	.	.	.	.	.	.	A	3.920	-0.018269	0.07681	.	.	ENSG00000162086	ENST00000293995	.	.	.	4.46	-2.76	0.05896	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.109970	0.06937	N	0.812053	T	0.16385	0.0394	N	0.04297	-0.235	0.09310	N	1	B	0.06786	0.001	B	0.11329	0.006	T	0.25847	-1.0120	9	0.51188	T	0.08	.	6.3677	0.21463	0.2835:0.0:0.0837:0.6328	.	274	Q96N20	ZN75A_HUMAN	A	274	.	ENSP00000293995:T274A	T	+	1	0	ZNF75A	3307799	0.000000	0.05858	0.000000	0.03702	0.771000	0.43674	-2.209000	0.01228	-0.674000	0.05253	0.455000	0.32223	ACT		0.463	ZNF75A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251506.2	0	NM_153028		16:3367798
MUC1	4582	broad.mit.edu	37	1	155160807	155160807	+	Silent	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:155160807G>A	ENST00000368395.1	-	3	791	c.720C>T	c.(718-720)agC>agT	p.S240S	MUC1_ENST00000368398.3_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368390.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1020	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|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)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGGTACCGTGCTATGGTGAG	0.507			T	IGH@	B-NHL																																	ENST00000368395.1		NA		Dom	yes		1	1q21	4582	T	"""mucin 1, transmembrane"""			L	IGH@		B-NHL		0				breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10						c.(718-720)agC>agT		mucin 1, cell surface associated							38.0	43.0	42.0					1																	155160807		2197	4296	6493	SO:0001819	synonymous_variant	4582					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	g.chr1:155160807G>A	J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.720C>T	1.37:g.155160807G>A		False	False		Somatic	0				MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000342482.4_Intron	p.S240S	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	WXS	Illumina HiSeq	Phase_I	P15941	MUC1_HUMAN	Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		3	791	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		1020			42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.		A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Silent	SNP	ENST00000368395.1	37	c.720C>T	CCDS55640.1																																																																																				0.507	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086735.1	0	NM_002456		1:155160807
PABPC3	5042	broad.mit.edu	37	13	25671664	25671664	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:25671664A>C	ENST00000281589.3	+	1	1365	c.1328A>C	c.(1327-1329)aAt>aCt	p.N443T		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	443					mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCATTCCAAAATAAGCCCAGT	0.507																																						ENST00000281589.3		NA																	0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(1327-1329)aAt>aCt		poly(A) binding protein, cytoplasmic 3							140.0	138.0	139.0					13																	25671664		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671664A>C	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1328A>C	13.37:g.25671664A>C	ENSP00000281589:p.Asn443Thr	True	False		Somatic	0					p.N443T	NM_030979.2	NP_112241.2	WXS	Illumina HiSeq	Phase_I	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1365	+		Lung SC(185;0.0225)|Breast(139;0.0602)	443					Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1328A>C	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	A	3.856	-0.030769	0.07543	.	.	ENSG00000151846	ENST00000281589	T	0.27557	1.66	0.875	0.875	0.19130	.	0.000000	0.50627	U	0.000110	T	0.21841	0.0526	L	0.52011	1.625	0.44899	D	0.997918	B	0.02656	0.0	B	0.10450	0.005	T	0.05500	-1.0881	10	0.22706	T	0.39	.	5.8995	0.18957	1.0:0.0:0.0:0.0	.	443	Q9H361	PABP3_HUMAN	T	443	ENSP00000281589:N443T	ENSP00000281589:N443T	N	+	2	0	PABPC3	24569664	1.000000	0.71417	0.963000	0.40424	0.160000	0.22226	3.947000	0.56652	0.632000	0.30432	0.260000	0.18958	AAT		0.507	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	0	NM_030979		13:25671664
CABP5	56344	broad.mit.edu	37	19	48537514	48537514	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:48537514G>A	ENST00000293255.2	-	5	584	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	152	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAGCCTCCCGGACAACCTCA	0.617																																						ENST00000293255.2		NA																	0				endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.(454-456)Cgg>Tgg		calcium binding protein 5							47.0	41.0	43.0					19																	48537514		2203	4300	6503	SO:0001583	missense	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48537514G>A	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.454C>T	19.37:g.48537514G>A	ENSP00000293255:p.Arg152Trp	True	False		Somatic	0					p.R152W	NM_019855.4	NP_062829.1	WXS	Illumina HiSeq	Phase_I	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	5	584	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)	152			EF-hand 4.		A0AUY4	Missense_Mutation	SNP	ENST00000293255.2	37	c.454C>T	CCDS12709.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197685	0.79015	.	.	ENSG00000105507	ENST00000293255	T	0.73469	-0.75	5.01	5.01	0.66863	EF-hand-like domain (1);	0.424187	0.24642	N	0.036784	D	0.82393	0.5027	M	0.79926	2.475	0.42202	D	0.991774	D	0.54207	0.965	P	0.51777	0.679	D	0.85894	0.1430	10	0.87932	D	0	-0.4457	16.1949	0.82021	0.0:0.0:1.0:0.0	.	152	Q9NP86	CABP5_HUMAN	W	152	ENSP00000293255:R152W	ENSP00000293255:R152W	R	-	1	2	CABP5	53229326	0.002000	0.14202	0.723000	0.30687	0.981000	0.71138	0.819000	0.27308	2.509000	0.84616	0.561000	0.74099	CGG		0.617	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	0	NM_019855		19:48537514
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	T	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101834438T>G	ENST00000506729.1	-	1	282	c.111A>C	c.(109-111)ggA>ggC	p.G37G	SLCO6A1_ENST00000514551.1_5'Flank|SLCO6A1_ENST00000389019.3_Silent_p.G37G|SLCO6A1_ENST00000379807.3_Silent_p.G37G|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000379810.1_Silent_p.G37G|RP11-58B2.1_ENST00000502494.1_RNA			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	37						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602																																						ENST00000506729.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(109-111)ggA>ggC		solute carrier organic anion transporter family, member 6A1							111.0	126.0	121.0					5																	101834438		2203	4300	6503	SO:0001819	synonymous_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101834438T>G	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.111A>C	5.37:g.101834438T>G		True	False		Somatic	0				SLCO6A1_ENST00000379810.1_Silent_p.G37G|SLCO6A1_ENST00000389019.3_Silent_p.G37G|SLCO6A1_ENST00000513675.1_Silent_p.G37G|SLCO6A1_ENST00000379807.3_Silent_p.G37G	p.G37G			WXS	Illumina HiSeq	Phase_I	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	1	282	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	37					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Silent	SNP	ENST00000506729.1	37	c.111A>C	CCDS34206.1																																																																																				0.602	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	0	NM_173488		5:101834438
ERCC5	2073	broad.mit.edu	37	13	103514870	103514870	+	Silent	SNP	C	C	T	rs149867583	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:103514870C>T	ENST00000355739.4	+	8	2794	c.1371C>T	c.(1369-1371)caC>caT	p.H457H	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.R883C	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	457					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGAGGAGCACGTAGCCAGCA	0.478			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000602836.1		NA	yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073		"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E					0					NA						c.(2647-2649)Cgt>Tgt									76.0	69.0	72.0					13																	103514870		2203	4300	6503	SO:0001819	synonymous_variant	0		Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding	g.chr13:103514870C>T	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1371C>T	13.37:g.103514870C>T		False	False		Somatic	0				ERCC5_ENST00000355739.4_Silent_p.H457H	p.R883C	NM_001204425.1	NP_001191354.1	WXS	Illumina HiSeq	Phase_I	Q59FZ7	Q59FZ7_HUMAN			16	2647	+			0					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.2647C>T	CCDS32004.1																																																																																				0.478	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1	0			13:103514870
CSK	1445	broad.mit.edu	37	15	75091650	75091650	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:75091650C>T	ENST00000220003.9	+	5	1009	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSK_ENST00000309470.9_Missense_Mutation_p.R94W|CSK_ENST00000567571.1_Missense_Mutation_p.R94W|CSK_ENST00000439220.2_Missense_Mutation_p.R94W	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	94	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						GCAGGCTGAGCGGCTTCTGTA	0.637																																						ENST00000220003.9		NA																	0				central_nervous_system(1)|lung(2)	3						c.(280-282)Cgg>Tgg		c-src tyrosine kinase							53.0	51.0	52.0					15																	75091650		2197	4296	6493	SO:0001583	missense	1445				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75091650C>T		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.280C>T	15.37:g.75091650C>T	ENSP00000220003:p.Arg94Trp	False	False		Somatic	0				CSK_ENST00000309470.9_Missense_Mutation_p.R94W|CSK_ENST00000567571.1_Missense_Mutation_p.R94W|CSK_ENST00000439220.2_Missense_Mutation_p.R94W	p.R94W	NM_004383.2	NP_004374.1	WXS	Illumina HiSeq	Phase_I	P41240	CSK_HUMAN			5	1009	+			94			SH2.		Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	c.280C>T	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086457	0.76642	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000309470	D;D;D	0.89875	-2.58;-2.58;-2.58	4.63	2.6	0.31112	SH2 motif (5);	0.068217	0.64402	D	0.000020	D	0.93148	0.7818	M	0.85373	2.75	0.80722	D	1	D	0.69078	0.997	P	0.58928	0.848	D	0.93959	0.7239	10	0.87932	D	0	-21.5651	13.0337	0.58859	0.3937:0.6063:0.0:0.0	.	94	P41240	CSK_HUMAN	W	94	ENSP00000220003:R94W;ENSP00000414764:R94W;ENSP00000438808:R94W	ENSP00000220003:R94W	R	+	1	2	CSK	72878703	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	1.164000	0.31810	1.148000	0.42385	-0.500000	0.04577	CGG		0.637	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	0	NM_004383		15:75091650
MED1	5469	broad.mit.edu	37	17	37565585	37565585	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:37565585T>G	ENST00000300651.6	-	17	3112	c.2889A>C	c.(2887-2889)ttA>ttC	p.L963F	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTCTTTCCCTAAGTCCCCAG	0.483										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)	ENST00000300651.6		NA																	0				NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59						c.(2887-2889)ttA>ttC		mediator complex subunit 1							78.0	77.0	77.0					17																	37565585		2203	4300	6503	SO:0001583	missense	5469				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr17:37565585T>G	L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2889A>C	17.37:g.37565585T>G	ENSP00000300651:p.Leu963Phe	True	False	HNSCC(31;0.082)	Somatic	0				MED1_ENST00000394287.3_Intron	p.L963F	NM_004774.3	NP_004765.2	WXS	Illumina HiSeq	Phase_I	Q15648	MED1_HUMAN	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)	17	3112	-		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	963			Interaction with ESR1.		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	c.2889A>C	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941018	0.34283	.	.	ENSG00000125686	ENST00000300651	T	0.33865	1.39	5.65	3.4	0.38934	.	.	.	.	.	T	0.16685	0.0401	N	0.12182	0.205	0.53688	D	0.999973	B	0.06786	0.001	B	0.06405	0.002	T	0.05971	-1.0853	9	0.09590	T	0.72	-0.6855	7.2644	0.26222	0.0:0.2903:0.0:0.7097	.	963	Q15648	MED1_HUMAN	F	963	ENSP00000300651:L963F	ENSP00000300651:L963F	L	-	3	2	MED1	34819111	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.767000	0.26575	1.165000	0.42670	0.533000	0.62120	TTA		0.483	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	0	NM_004774		17:37565585
CHST11	50515	broad.mit.edu	37	12	105150940	105150940	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:105150940G>A	ENST00000303694.5	+	3	857	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	CHST11_ENST00000549260.1_Missense_Mutation_p.G135R	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	140					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGTCCTGACCGGGCGGGGGAA	0.597																																						ENST00000303694.5		NA																	0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(418-420)Ggg>Agg		carbohydrate (chondroitin 4) sulfotransferase 11							64.0	65.0	64.0					12																	105150940		2203	4300	6503	SO:0001583	missense	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105150940G>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.418G>A	12.37:g.105150940G>A	ENSP00000305725:p.Gly140Arg	True	False		Somatic	0				CHST11_ENST00000549260.1_Missense_Mutation_p.G135R	p.G140R	NM_018413.5	NP_060883.1	WXS	Illumina HiSeq	Phase_I	Q9NPF2	CHSTB_HUMAN			3	857	+			140					A8K4F8|Q9NXY6|Q9NY36	Missense_Mutation	SNP	ENST00000303694.5	37	c.418G>A	CCDS9099.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.834370	0.91036	.	.	ENSG00000171310	ENST00000549260;ENST00000303694;ENST00000549016	T;T;T	0.73789	-0.78;-0.78;-0.78	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89259	0.6664	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	D	0.91028	0.4862	10	0.87932	D	0	-15.1321	19.4315	0.94772	0.0:0.0:1.0:0.0	.	135;140	Q9NPF2-2;Q9NPF2	.;CHSTB_HUMAN	R	135;140;100	ENSP00000450004:G135R;ENSP00000305725:G140R;ENSP00000449095:G100R	ENSP00000305725:G140R	G	+	1	0	CHST11	103675070	1.000000	0.71417	0.928000	0.36995	0.997000	0.91878	9.869000	0.99810	2.600000	0.87896	0.655000	0.94253	GGG		0.597	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	0	NM_018413		12:105150940
SLCO4C1	353189	broad.mit.edu	37	5	101576431	101576431	+	Nonsense_Mutation	SNP	G	G	A	rs202120876		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101576431G>A	ENST00000310954.6	-	11	2153	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1											breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTAATAATCGAAGGACCATA	0.323																																						ENST00000310954.6		NA																	0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50						c.(1867-1869)Cga>Tga		solute carrier organic anion transporter family, member 4C1		G	stop/ARG	0,4406		0,0,2203	131.0	139.0	136.0		1867	6.0	1.0	5		136	1,8597	1.2+/-3.3	0,1,4298	yes	stop-gained	SLCO4C1	NM_180991.4		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		623/725	101576431	1,13003	2203	4299	6502	SO:0001587	stop_gained	353189				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr5:101576431G>A	AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1867C>T	5.37:g.101576431G>A	ENSP00000309741:p.Arg623*	False	False		Somatic	0					p.R623*	NM_180991.4	NP_851322.3	WXS	Illumina HiSeq	Phase_I	Q6ZQN7	SO4C1_HUMAN		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)	11	2153	-		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)	623						Nonsense_Mutation	SNP	ENST00000310954.6	37	c.1867C>T	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	G	40	8.187990	0.98696	0.0	1.16E-4	ENSG00000173930	ENST00000310954	.	.	.	5.96	5.96	0.96718	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	.	.	.	X	623	.	ENSP00000309741:R623X	R	-	1	2	SLCO4C1	101604330	1.000000	0.71417	0.998000	0.56505	0.488000	0.33401	4.086000	0.57664	2.832000	0.97577	0.655000	0.94253	CGA		0.323	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	0	NM_180991		5:101576431
