#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
IFIT1B	439996	broad.mit.edu	37	10	91144276	91144277	+	In_Frame_Ins	INS	-	-	AGTCTTTTCAAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:91144276_91144277insAGTCTTTTCAAA	ENST00000371809.3	+	2	1286_1287	c.1206_1207insAGTCTTTTCAAA	c.(1207-1209)tta>AGTCTTTTCAAAtta	p.402_403insSLFK	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	402										endometrium(2)|large_intestine(3)|lung(8)	13						TTACCCATTATTTAAAAGGTTT	0.356																																						ENST00000371809.3		NA																	0				endometrium(2)|large_intestine(3)|lung(8)	13						c.(1207-1209)tta>AGTCTTTTCAAAtta		interferon-induced protein with tetratricopeptide repeats 1B																																				SO:0001652	inframe_insertion	439996						binding	g.chr10:91144276_91144277insAGTCTTTTCAAA		CCDS31242.1	10q23.31	2014-05-22	2010-03-22	2010-03-22	ENSG00000204010	ENSG00000204010		"""Tetratricopeptide (TTC) repeat domain containing"""	23442	protein-coding gene	gene with protein product			"""interferon-induced protein with tetratricopeptide repeats 1-like"""	IFIT1L			Standard	NM_001010987		Approved	bA149I23.6	uc001kgh.3	Q5T764	OTTHUMG00000018709	Exception_encountered	10.37:g.91144276_91144277insAGTCTTTTCAAA	ENSP00000360874:p.Tyr402_Leu403insSerLeuPheLys	True	False		Somatic	0				LIPA_ENST00000371837.1_Intron	p.402_403insSLFK	NM_001010987.2	NP_001010987.1	WXS	Illumina HiSeq	Phase_I	Q5T764	IFT1B_HUMAN			2	1286_1287	+			402					A7E245	In_Frame_Ins	INS	ENST00000371809.3	37	c.1206_1207insAGTCTTTTCAAA	CCDS31242.1																																																																																				0.356	IFIT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049296.3	0	NM_001010987		10:91144276
OR6Q1	219952	broad.mit.edu	37	11	57799109	57799109	+	Frame_Shift_Del	DEL	C	C	-	rs34846253	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:57799109delC	ENST00000302622.3	+	1	708	c.685delC	c.(685-687)ctgfs	p.L230fs	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CGTCTGGACACTGCTGCACAT	0.532													C|C|-|deletion	594	0.11861	0.1225	0.1153	5008	,	,		22097	0.0218		0.2048	False		,,,				2504	0.1268					ENST00000302622.3		NA																	0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	GRCh37	CD035873	OR6Q1	D	rs34846253	c.(685-687)ctgfs		olfactory receptor, family 6, subfamily Q, member 1				656,3608		57,542,1533	155.0	121.0	133.0			-7.0	0.1	11	dbSNP_126	158	1588,6664		147,1294,2685	no	frameshift	OR6Q1	NM_001005186.2		204,1836,4218	A1A1,A1R,RR		19.2438,15.3846,17.9291			57799109	2244,10272	2161	4187	6348	SO:0001589	frameshift_variant	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799109delC	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.685delC	11.37:g.57799109delC	ENSP00000307734:p.Leu230fs	False	False		Somatic	1				OR9Q1_ENST00000335397.3_Intron	p.L230fs	NM_001005186.2	NP_001005186.2	WXS	Illumina HiSeq	Phase_I	Q8NGQ2	OR6Q1_HUMAN			1	708	+		Breast(21;0.0707)|all_epithelial(135;0.142)	230					B9EKW1|Q6IFH1|Q96R34	Frame_Shift_Del	DEL	ENST00000302622.3	37	c.685delC	CCDS31541.1																																																																																				0.532	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	0	NM_001005186		11:57799109
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
TAS2R7	50837	broad.mit.edu	37	12	10954461	10954462	+	Frame_Shift_Ins	INS	-	-	TATTCTAAAAGGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:10954461_10954462insTATTCTAAAAGGA	ENST00000240687.2	-	1	764_765	c.708_709insTCCTTTTAGAATA	c.(706-711)gctgtcfs	p.V237fs		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	237					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						AAGGAAATGACAGCTTTCAGGG	0.5																																						ENST00000240687.2		NA																	0				kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						c.(706-711)gctgtcfs		taste receptor, type 2, member 7																																				SO:0001589	frameshift_variant	50837				sensory perception of taste	integral to membrane	taste receptor activity	g.chr12:10954461_10954462insTATTCTAAAAGGA	AF227133	CCDS8631.1	12p13	2012-08-22			ENSG00000121377	ENSG00000121377		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14913	protein-coding gene	gene with protein product		604793				10761934, 10766242	Standard	NM_023919		Approved	T2R7, TRB4	uc001qyv.3	Q9NYW3	OTTHUMG00000168505	ENST00000240687.2:c.708_709insTCCTTTTAGAATA	12.37:g.10954461_10954462insTATTCTAAAAGGA	ENSP00000240687:p.Val237fs	False	False		Somatic	0					p.V237fs	NM_023919.2	NP_076408.1	WXS	Illumina HiSeq	Phase_I	Q9NYW3	TA2R7_HUMAN			1	764_765	-			237					Q645Y1	Frame_Shift_Ins	INS	ENST00000240687.2	37	c.708_709insTCCTTTTAGAATA	CCDS8631.1																																																																																				0.500	TAS2R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399931.1	0			12:10954461
RAP1B	5908	broad.mit.edu	37	12	69050230	69050231	+	Splice_Site	INS	-	-	TA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:69050230_69050231insTA	ENST00000250559.9	+	6	699		c.e6+1		RAP1B_ENST00000378985.3_Splice_Site|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000450214.2_Splice_Site|RAP1B_ENST00000537460.1_Splice_Site|RAP1B_ENST00000541216.1_Frame_Shift_Ins_p.V157fs|RAP1B_ENST00000542145.1_Splice_Site|RAP1B_ENST00000463493.1_Splice_Site|RAP1B_ENST00000393436.5_Splice_Site|RAP1B_ENST00000540209.1_Splice_Site|RAP1B_ENST00000543393.1_Splice_Site|RAP1B_ENST00000341355.5_Splice_Site|RAP1B_ENST00000539091.1_Splice_Site	NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5	NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1	P61224	RAP1B_HUMAN	RAP1B, member of RAS oncogene family						blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of establishment of cell polarity (GO:2000114)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12	Breast(13;1.24e-05)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)		TGTTAATGAGGTATGGTCAAAT	0.327																																						ENST00000541216.1		NA																	0				breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2)	12						c.(469-471)gtafs		RAP1B, member of RAS oncogene family																																				SO:0001630	splice_region_variant	5908				blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion	cell-cell junction|cytosol	GDP binding|GTP binding|GTPase activity|protein binding	g.chr12:69050230_69050231insTA		CCDS8984.1, CCDS58252.1, CCDS58253.1, CCDS58254.1	12q14	2014-05-09			ENSG00000127314	ENSG00000127314			9857	protein-coding gene	gene with protein product		179530				3137530, 12089143	Standard	NM_015646		Approved	K-REV, RAL1B, DKFZp586H0723	uc001suc.3	P61224	OTTHUMG00000133660	ENST00000250559.9:c.468+1->TA	12.37:g.69050231_69050232dupTA		False	False		Somatic	1				RAP1B_ENST00000250559.9_Splice_Site|RAP1B_ENST00000463493.1_Splice_Site|RAP1B_ENST00000543697.1_Intron|RAP1B_ENST00000542145.1_Splice_Site|RAP1B_ENST00000341355.5_Splice_Site|RAP1B_ENST00000393436.5_Splice_Site|RAP1B_ENST00000543393.1_Splice_Site|RAP1B_ENST00000540209.1_Splice_Site|RAP1B_ENST00000378985.3_Splice_Site|RAP1B_ENST00000539091.1_Splice_Site|RAP1B_ENST00000450214.2_Splice_Site|RAP1B_ENST00000537460.1_Splice_Site	p.V157fs			WXS	Illumina HiSeq	Phase_I	P61224	RAP1B_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)	GBM - Glioblastoma multiforme(7;0.000306)	6	514_515	+	Breast(13;1.24e-05)		157					B2R5Z2|B4DQI8|B4DW74|B4DW94|P09526|Q502X3|Q5TZR4|Q6DCA1|Q6LES0	Frame_Shift_Ins	INS	ENST00000250559.9	37	c.469_470insTA	CCDS8984.1																																																																																				0.327	RAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257821.3	0	NM_001010942	Intron	12:69050230
BRCA2	675	broad.mit.edu	37	13	32932061	32932062	+	In_Frame_Ins	INS	-	-	AAAGTAAACATG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:32932061_32932062insAAAGTAAACATG	ENST00000380152.3	+	16	8033_8034	c.7800_7801insAAAGTAAACATG	c.(7801-7803)tat>AAAGTAAACATGtat	p.2600_2601insKVNM	BRCA2_ENST00000544455.1_In_Frame_Ins_p.2600_2601insKVNM			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2600					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGAAGAATTTTATAGGTACTC	0.376			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000380152.3		NA	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 2			"""L, E"""		"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(7801-7803)tat>AAAGTAAACATGtat	Homologous recombination	breast cancer 2, early onset																																				SO:0001652	inframe_insertion	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32932061_32932062insAAAGTAAACATG	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	Exception_encountered	13.37:g.32932061_32932062insAAAGTAAACATG	ENSP00000369497:p.Phe2600_Tyr2601insLysValAsnMet	True	False	TCGA Ovarian(8;0.087)	Somatic	0				BRCA2_ENST00000544455.1_In_Frame_Ins_p.2600_2601insKVNM	p.2600_2601insKVNM			WXS	Illumina HiSeq	Phase_I	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	16	8033_8034	+		Lung SC(185;0.0262)	2600					O00183|O15008|Q13879|Q5TBJ7	In_Frame_Ins	INS	ENST00000380152.3	37	c.7800_7801insAAAGTAAACATG	CCDS9344.1																																																																																				0.376	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	0	NM_000059		13:32932061
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	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
RALGAPA1	253959	broad.mit.edu	37	14	36096790	36096791	+	Frame_Shift_Ins	INS	-	-	TGTTA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:36096790_36096791insTGTTA	ENST00000389698.3	-	33	5234_5235	c.4844_4845insTAACA	c.(4843-4845)ggcfs	p.-1615fs	RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.-1615fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.-1662fs|RALGAPA1_ENST00000382366.3_Frame_Shift_Ins_p.-1628fs	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)						activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGGAGGTGGGCCATACAGTAT	0.441																																						ENST00000382366.3		NA																	0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(4882-4884)ggcfs		Ral GTPase activating protein, alpha subunit 1 (catalytic)																																				SO:0001589	frameshift_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36096790_36096791insTGTTA	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4844_4845insTAACA	14.37:g.36096790_36096791insTGTTA	ENSP00000374348:p.Gly1615fs	True	False		Somatic	0				RALGAPA1_ENST00000307138.6_Frame_Shift_Ins_p.-1615fs|RALGAPA1_ENST00000258840.6_Frame_Shift_Ins_p.-1662fs|RALGAPA1_ENST00000389698.3_Frame_Shift_Ins_p.-1615fs	p.-1628fs			WXS	Illumina HiSeq	Phase_I	Q6GYQ0	RGPA1_HUMAN			34	4981_4982	-			NA					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Frame_Shift_Ins	INS	ENST00000389698.3	37	c.4883_4884insTAACA	CCDS32065.1																																																																																				0.441	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	0	XM_210022		14:36096790
CHRFAM7A	89832	broad.mit.edu	37	15	30665281	30665282	+	Frame_Shift_Del	DEL	CA	CA	-	rs200872014|rs201490160	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:30665281_30665282delCA	ENST00000299847.2	-	6	680_681	c.227_228delTG	c.(226-228)ctgfs	p.L76fs	CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000567722.1_5'Flank|CHRFAM7A_ENST00000401522.3_5'UTR	NM_139320.1	NP_647536.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	76						integral component of membrane (GO:0016021)	extracellular ligand-gated ion channel activity (GO:0005230)			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		ACCCAAACTTCAGTTTGCAGTG	0.505														1938	0.386981	0.0817	0.4409	5008	,	,		21827	0.6647		0.3777	False		,,,				2504	0.4847					ENST00000299847.2		NA																	0				large_intestine(3)|lung(1)|skin(2)	6	GRCh37	CD025514	CHRFAM7A	D		c.(226-228)ctgfs		CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion			,	570,2490		43,484,1003					,	2.1	1.0			64	2874,4020		317,2240,890	no	utr-5,frameshift	CHRFAM7A	NM_148911.1,NM_139320.1	,	360,2724,1893	A1A1,A1R,RR		41.6884,18.6275,34.5992	,	,		3444,6510				SO:0001589	frameshift_variant	89832					integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity	g.chr15:30665281_30665282delCA	AF029838	CCDS32184.1, CCDS42008.1	15q13.2	2013-04-24	2006-02-01		ENSG00000166664	ENSG00000166664			15781	protein-coding gene	gene with protein product		609756				11829490	Standard	NM_139320		Approved	D-10, CHRNA7-DR1	uc001zdt.1	Q494W8	OTTHUMG00000175645	ENST00000299847.2:c.227_228delTG	15.37:g.30665281_30665282delCA	ENSP00000299847:p.Leu76fs	False	False		Somatic	1				CHRFAM7A_ENST00000397827.3_5'UTR|CHRFAM7A_ENST00000401522.3_5'UTR	p.L76fs	NM_139320.1	NP_647536.1	WXS	Illumina HiSeq	Phase_I	Q494W8	CRFM7_HUMAN		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)	6	680_681	-		all_lung(180;3.42e-11)|Breast(32;0.000153)	76					A8KAB9	Frame_Shift_Del	DEL	ENST00000299847.2	37	c.227_228delTG	CCDS32184.1																																																																																				0.505	CHRFAM7A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430700.1	0	NM_148911		15:30665281
TYRO3	7301	broad.mit.edu	37	15	41857341	41857342	+	Splice_Site	INS	-	-	G	rs558156059		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:41857341_41857342insG	ENST00000263798.3	+	6	1007		c.e6+2		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACAGTTCAGGTAGGCTCTCCGG	0.579																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e6+2		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41857341_41857342insG	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.783+2->G	15.37:g.41857341_41857342insG		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	6	1007	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.579	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41857341
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-	rs200724524		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:22161152_22161158delACACGCT	ENST00000389398.5	+	29	3125_3131	c.3029_3035delACACGCT	c.(3028-3036)gacacgctgfs	p.DTL1010fs	VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1010	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCATGGCAGGACACGCTGGTGGAGACC	0.546																																						ENST00000389398.5		NA																	0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						c.(3028-3036)gacacgctgfs		von Willebrand factor A domain containing 3A																																				SO:0001589	frameshift_variant	146177					extracellular region		g.chr16:22161152_22161158delACACGCT	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.3029_3035delACACGCT	16.37:g.22161152_22161158delACACGCT	ENSP00000374049:p.Asp1010fs	False	False		Somatic	1				VWA3A_ENST00000563755.1_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs	p.DTL1010fs	NM_173615.3	NP_775886.3	WXS	Illumina HiSeq	Phase_I	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	29	3125_3131	+			1010			VWFA 2.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Frame_Shift_Del	DEL	ENST00000389398.5	37	c.3029_3035delACACGCT	CCDS45441.1																																																																																				0.546	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1	0			16:22161152
RBL2	5934	broad.mit.edu	37	16	53488708	53488709	+	Frame_Shift_Ins	INS	-	-	CATTTCAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:53488708_53488709insCATTTCAA	ENST00000262133.6	+	8	1270_1271	c.1133_1134insCATTTCAA	c.(1132-1137)gctgaafs	p.E379fs	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Frame_Shift_Ins_p.E163fs	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	379					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACAGAGACTGCTGAAAGGGTGC	0.465																																						ENST00000262133.6		NA																	0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1132-1137)gctgaafs		retinoblastoma-like 2 (p130)																																				SO:0001589	frameshift_variant	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53488708_53488709insCATTTCAA	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	Exception_encountered	16.37:g.53488708_53488709insCATTTCAA	ENSP00000262133:p.Glu379fs	False	False		Somatic	0				RBL2_ENST00000544545.1_Frame_Shift_Ins_p.E163fs|RBL2_ENST00000379935.4_3'UTR	p.E379fs	NM_005611.3	NP_005602.3	WXS	Illumina HiSeq	Phase_I	Q08999	RBL2_HUMAN			8	1270_1271	+			379					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Frame_Shift_Ins	INS	ENST00000262133.6	37	c.1133_1134insCATTTCAA	CCDS10748.1																																																																																				0.465	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	0	NM_005611		16:53488708
TNFSF13	8741	broad.mit.edu	37	17	7464116	7464117	+	Frame_Shift_Ins	INS	-	-	TAGCGGT	rs370046843		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7464116_7464117insTAGCGGT	ENST00000338784.4	+	6	1162_1163	c.719_720insTAGCGGT	c.(718-723)ccacatfs	p.H241fs	TNFSF13_ENST00000380535.4_Frame_Shift_Ins_p.H213fs|SENP3_ENST00000321337.7_5'Flank|TNFSF13_ENST00000396545.4_Frame_Shift_Ins_p.H241fs|TNFSF13_ENST00000349228.4_Frame_Shift_Ins_p.H225fs|TNFSF12_ENST00000557233.1_Frame_Shift_Ins_p.H321fs|TNFSF13_ENST00000396542.1_Frame_Shift_Ins_p.H196fs|TNFSF12-TNFSF13_ENST00000293826.4_Frame_Shift_Ins_p.H321fs|TNFSF13_ENST00000483039.1_Frame_Shift_Ins_p.H105fs|SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000429205.2_5'Flank	NM_003808.3	NP_003799.1	O75888	TNF13_HUMAN	tumor necrosis factor (ligand) superfamily, member 13	241					gene expression (GO:0010467)|immunoglobulin production in mucosal tissue (GO:0002426)|mRNA metabolic process (GO:0016071)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of isotype switching to IgA isotypes (GO:0048298)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	receptor binding (GO:0005102)			large_intestine(2)|lung(2)|skin(1)	5		Prostate(122;0.157)				AACCTCTCTCCACATGGAACCT	0.47											OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000349228.4		NA																	0				large_intestine(2)|lung(2)|skin(1)	5						c.(670-675)ccacatfs		tumor necrosis factor (ligand) superfamily, member 13																																				SO:0001589	frameshift_variant	8741							g.chr17:7464116_7464117insTAGCGGT	AF046888	CCDS11111.1, CCDS11112.1, CCDS42256.1, CCDS56019.1, CCDS73957.1	17p13.1	2007-07-23			ENSG00000161955	ENSG00000161955		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11928	protein-coding gene	gene with protein product		604472				9743536	Standard	NM_172088		Approved	APRIL, CD256		O75888	OTTHUMG00000108145	Exception_encountered	17.37:g.7464116_7464117insTAGCGGT	ENSP00000343505:p.His241fs	False	False		Somatic	0	OREG0024138	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	641	TNFSF12_ENST00000557233.1_Frame_Shift_Ins_p.H321fs|TNFSF13_ENST00000396542.1_Frame_Shift_Ins_p.H196fs|TNFSF13_ENST00000483039.1_Frame_Shift_Ins_p.H105fs|TNFSF13_ENST00000396545.4_Frame_Shift_Ins_p.H241fs|TNFSF13_ENST00000380535.4_Frame_Shift_Ins_p.H213fs|TNFSF13_ENST00000338784.4_Frame_Shift_Ins_p.H241fs|TNFSF12-TNFSF13_ENST00000293826.4_Frame_Shift_Ins_p.H321fs	p.H225fs	NM_172087.2	NP_742084.1	WXS	Illumina HiSeq	Phase_I					5	1235_1236	+		Prostate(122;0.157)	NA					A8MYD5|B4DVT2|Q541E1|Q5U0G8|Q96HV6|Q9P1M8|Q9P1M9	Frame_Shift_Ins	INS	ENST00000338784.4	37	c.671_672insTAGCGGT	CCDS11111.1																																																																																				0.470	TNFSF13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226948.2	0	NM_003808		17:7464116
TDRD5	163589	broad.mit.edu	37	1	179631421	179631422	+	Splice_Site	INS	-	-	ACAAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:179631421_179631422insACAAA	ENST00000367614.1	+	14	2702	c.2343_2343insACAAA	c.(2344-2346)gac>gaACAAAc	p.D782fs	TDRD5_ENST00000444136.1_Splice_Site_p.D836fs|TDRD5_ENST00000294848.8_Splice_Site_p.D782fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	782					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						TGCCACAGAAGGTTAGATCCTT	0.475																																						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.(2344-2346)gac>gaACAAAc		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_179631422insACAAA	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+1->ACAAA	1.37:g.179631421_179631422insACAAA		False	False		Somatic	0				TDRD5_ENST00000444136.1_Splice_Site_p.D836fs|TDRD5_ENST00000294848.8_Splice_Site_p.D782fs	p.D782fs	NM_001199091.1	NP_001186020.1	WXS	Illumina HiSeq	Phase_I	Q8NAT2	TDRD5_HUMAN			14	2702	+			782					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Splice_Site	INS	ENST00000367614.1	37	c.2343_2343insACAAA	CCDS1332.1																																																																																				0.475	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	0	NM_173533	Frame_Shift_Ins	1:179631421
TDRD5	163589	broad.mit.edu	37	1	179631422	179631423	+	Splice_Site	INS	-	-	AAAAACTATCA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:179631422_179631423insAAAAACTATCA	ENST00000367614.1	+	14	2702		c.e14+1		TDRD5_ENST00000444136.1_Splice_Site|TDRD5_ENST00000294848.8_Splice_Site	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5						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						GCCACAGAAGGTTAGATCCTTG	0.48																																						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.e14+1		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.chr1:179631422_179631423insAAAAACTATCA	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+1->AAAAACTATCA	1.37:g.179631422_179631423insAAAAACTATCA		False	False		Somatic	0				TDRD5_ENST00000444136.1_Splice_Site|TDRD5_ENST00000294848.8_Splice_Site		NM_001199091.1	NP_001186020.1	WXS	Illumina HiSeq	Phase_I	Q8NAT2	TDRD5_HUMAN			14	2702	+			NA					A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Splice_Site	INS	ENST00000367614.1	37		CCDS1332.1																																																																																				0.480	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	0	NM_173533	Intron	1:179631422
HELZ	9931	broad.mit.edu	37	17	65103458	65103459	+	In_Frame_Ins	INS	-	-	AAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:65103458_65103459insAAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	ENST00000358691.5	-	31	5233_5234	c.5067_5068insGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTT	c.(5065-5070)caacag>caaGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTTcag	p.1689_1690QQ>QDLCLPIIKSINTDIFQ	HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691QQ>QDLCLPIIKSINTDIFQ	NM_014877.3	NP_055692	P42694	HELZ_HUMAN	helicase with zinc finger	1689						membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGTGATTCTGTTGCAAGTTAG	0.485																																						ENST00000358691.5		NA																	0				NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(5065-5070)caacag>caaGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTTcag		helicase with zinc finger																																				SO:0001652	inframe_insertion	9931							g.chr17:65103458_65103459insAAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	D29677	CCDS42374.1	17q24.2	2013-01-18			ENSG00000198265	ENSG00000198265		"""Zinc fingers, CCCH-type domain containing"""	16878	protein-coding gene	gene with protein product	"""down-regulated in human cancers"""	606699				10471385, 12691822	Standard	NM_014877		Approved	KIAA0054, HUMORF5, DHRC	uc002jfx.4	P42694	OTTHUMG00000179555	ENST00000358691.5:c.5067_5068insGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTT	17.37:g.65103458_65103459insAAAAATATCAGTATTTATTGATTTGATAATAGGAAGGCACAGATC	ENSP00000351524:p.Gln1689_Gln1690insAspLeuCysLeuProIleIleLysSerIleAsnThrAspIlePhe	False	False		Somatic	0				HELZ_ENST00000580168.1_In_Frame_Ins_p.1690_1691QQ>QDLCLPIIKSINTDIFQ	p.1689_1690QQ>QDLCLPIIKSINTDIFQ	NM_014877.3	NP_055692.2	WXS	Illumina HiSeq	Phase_I					31	5233_5234	-	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)		NA					I6L9H4	In_Frame_Ins	INS	ENST00000358691.5	37	c.5067_5068insGATCTGTGCCTTCCTATTATCAAATCAATAAATACTGATATTTTT	CCDS42374.1																																																																																				0.485	HELZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000447068.1	0	NM_014877		17:65103458
MIB1	57534	broad.mit.edu	37	18	19429320	19429321	+	Frame_Shift_Ins	INS	-	-	TATTACAAATTCACTAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:19429320_19429321insTATTACAAATTCACTAA	ENST00000261537.6	+	17	2821_2822	c.2557_2558insTATTACAAATTCACTAA	c.(2557-2559)tgtfs	p.C853fs	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	853					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			ATGCCTCATCTGTAAAGAACAG	0.327																																						ENST00000261537.6		NA																	0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27						c.(2557-2559)tgtfs		mindbomb E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	57534				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr18:19429320_19429321insTATTACAAATTCACTAA	AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	Exception_encountered	18.37:g.19429320_19429321insTATTACAAATTCACTAA	ENSP00000261537:p.Cys853fs	False	False		Somatic	0				MIB1_ENST00000578646.1_3'UTR	p.C853fs	NM_020774.2	NP_065825.1	WXS	Illumina HiSeq	Phase_I	Q86YT6	MIB1_HUMAN	STAD - Stomach adenocarcinoma(5;0.212)		17	2821_2822	+			853					B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Frame_Shift_Ins	INS	ENST00000261537.6	37	c.2557_2558insTATTACAAATTCACTAA	CCDS11871.1																																																																																				0.327	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254675.1	0	NM_020774		18:19429320
PLIN4	729359	broad.mit.edu	37	19	4511376	4511377	+	Frame_Shift_Del	DEL	CA	CA	-	rs200819033|rs181881862	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	CA	CA	-	-	CA	CA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	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
MDM4	4194	broad.mit.edu	37	1	204518408	204518409	+	Frame_Shift_Ins	INS	-	-	TAATACTCAGGGG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:204518408_204518409insTAATACTCAGGGG	ENST00000367182.3	+	11	1233_1234	c.1071_1072insTAATACTCAGGGG	c.(1072-1074)gatfs	p.D358fs	MDM4_ENST00000454264.2_Frame_Shift_Ins_p.D308fs|MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Frame_Shift_Ins_p.D32fs|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	358					cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ATGAAGGAAATGATGTCCCTGA	0.416			A		"""GBM, bladder, retinoblastoma"""																																	ENST00000367182.3		NA		Dom	yes		1	1q32	4194	A	Mdm4 p53 binding protein homolog			M			"""GBM, bladder, retinoblastoma"""		0				central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16						c.(1072-1074)gatfs		Mdm4 p53 binding protein homolog (mouse)																																				SO:0001589	frameshift_variant	4194				apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	g.chr1:204518408_204518409insTAATACTCAGGGG	AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	Exception_encountered	1.37:g.204518408_204518409insTAATACTCAGGGG	ENSP00000356150:p.Asp358fs	False	False		Somatic	0				MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Frame_Shift_Ins_p.D32fs|MDM4_ENST00000454264.2_Frame_Shift_Ins_p.D308fs|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000463049.1_3'UTR	p.D358fs	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	WXS	Illumina HiSeq	Phase_I	O15151	MDM4_HUMAN	GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)		11	1233_1234	+	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		358					Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Frame_Shift_Ins	INS	ENST00000367182.3	37	c.1071_1072insTAATACTCAGGGG	CCDS1447.1																																																																																				0.416	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087415.2	0	NM_002393		1:204518408
RALGAPB	57148	broad.mit.edu	37	20	37121723	37121724	+	Frame_Shift_Ins	INS	-	-	TCTCAGTAGACTGATTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:37121723_37121724insTCTCAGTAGACTGATTT	ENST00000262879.6	+	3	621_622	c.337_338insTCTCAGTAGACTGATTT	c.(337-339)aatfs	p.N113fs	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.N113fs			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	113					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAAAGAGCCTAATCAATATGTT	0.347																																						ENST00000262879.6		NA																	0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						c.(337-339)aatfs		Ral GTPase activating protein, beta subunit (non-catalytic)																																				SO:0001589	frameshift_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37121723_37121724insTCTCAGTAGACTGATTT	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	Exception_encountered	20.37:g.37121723_37121724insTCTCAGTAGACTGATTT	ENSP00000262879:p.Asn113fs	False	False		Somatic	0				RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.N113fs|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.N113fs	p.N113fs			WXS	Illumina HiSeq	Phase_I	Q86X10	RLGPB_HUMAN			3	621_622	+			113					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Frame_Shift_Ins	INS	ENST00000262879.6	37	c.337_338insTCTCAGTAGACTGATTT	CCDS13305.1																																																																																				0.347	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	0	NM_020336		20:37121723
KCNB1	3745	broad.mit.edu	37	20	47990605	47990608	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTTC	TTTC	-	-	TTTC	TTTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:47990605_47990608delTTTC	ENST00000371741.4	-	2	1655_1658	c.1489_1492delGAAA	c.(1489-1494)gaaaccfs	p.ET497fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	497					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	CTTGAGCTGGTTTCAGACAGTGTC	0.436																																						ENST00000371741.4		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(1489-1494)gaaaccfs		potassium voltage-gated channel, Shab-related subfamily, member 1																																				SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47990605_47990608delTTTC	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.1489_1492delGAAA	20.37:g.47990605_47990608delTTTC	ENSP00000360806:p.Glu497fs	True	False		Somatic	1					p.ET497fs	NM_004975.2	NP_004966.1	WXS	Illumina HiSeq	Phase_I	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	1655_1658	-			497					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.1489_1492delGAAA	CCDS13418.1																																																																																				0.436	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	0	NM_004975		20:47990605
DNAJB7	150353	broad.mit.edu	37	22	41258054	41258055	+	De_novo_Start_OutOfFrame	INS	-	-	GGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:41258054_41258055insGGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA	ENST00000307221.4	-	0	75_76				XPNPEP3_ENST00000544094.1_5'Flank|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7								chaperone binding (GO:0051087)			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						GTGGTTTCCTCAGCTCAGGCTC	0.421																																						ENST00000307221.4		NA																	0				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10								DnaJ (Hsp40) homolog, subfamily B, member 7																																						150353				protein folding		heat shock protein binding|unfolded protein binding	g.chr22:41258054_41258055insGGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA	AF085232	CCDS14008.1	22q13.2	2011-09-02			ENSG00000172404	ENSG00000172404		"""Heat shock proteins / DNAJ (HSP40)"""	24986	protein-coding gene	gene with protein product		611336				12477932	Standard	NM_145174		Approved	HSC3	uc003azj.3	Q7Z6W7	OTTHUMG00000151202	ENST00000307221.4:c.-57->TTCCAAATAGTAGCCACTGTAATCTTTGTTTTTCCTCCTCTATGTTGGTTACC	22.37:g.41258054_41258055insGGTAACCAACATAGAGGAGGAAAAACAAAGATTACAGTGGCTACTATTTGGAA		True	False		Somatic	0				XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Intron		NM_145174.1	NP_660157.1	WXS	Illumina HiSeq	Phase_I	Q7Z6W7	DNJB7_HUMAN			0	75_76	-			NA					Q2M220|Q5H904|Q8WYJ7	Translation_Start_Site	INS	ENST00000307221.4	37		CCDS14008.1																																																																																				0.421	DNAJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321765.1	0	NM_145174		22:41258054
HUWE1	10075	broad.mit.edu	37	X	53584360	53584361	+	Frame_Shift_Ins	INS	-	-	GTTCT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:53584360_53584361insGTTCT	ENST00000342160.3	-	59	8645_8646	c.8188_8189insAGAAC	c.(8188-8190)actfs	p.T2730fs	HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T2730fs|MIR98_ENST00000606724.1_RNA|MIRLET7F2_ENST00000385277.1_RNA			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2730					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATTCTGTTCAGTGGAGTCATTT	0.431																																						ENST00000342160.3		NA																	0				NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						c.(8188-8190)actfs		HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase																																				SO:0001589	frameshift_variant	10075				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	g.chrX:53584360_53584361insGTTCT	AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.8188_8189insAGAAC	X.37:g.53584360_53584361insGTTCT	ENSP00000340648:p.Thr2730fs	False	False		Somatic	0				HUWE1_ENST00000262854.6_Frame_Shift_Ins_p.T2730fs	p.T2730fs			WXS	Illumina HiSeq	Phase_I	Q7Z6Z7	HUWE1_HUMAN			59	8645_8646	-			2730					O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Frame_Shift_Ins	INS	ENST00000342160.3	37	c.8188_8189insAGAAC	CCDS35301.1																																																																																				0.431	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	0	XM_497119		X:53584360
VPS13D	55187	broad.mit.edu	37	1	12446387	12446388	+	Frame_Shift_Ins	INS	-	-	CCAGGAGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:12446387_12446388insCCAGGAGA	ENST00000358136.3	+	60	11758_11759	c.11628_11629insCCAGGAGA	c.(11629-11631)gtafs	p.V3877fs	VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.V3852fs|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCATACAGGATGTACAGGTAAG	0.411																																						ENST00000358136.3		NA																	0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(11629-11631)gtafs		vacuolar protein sorting 13 homolog D (S. cerevisiae)																																				SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12446387_12446388insCCAGGAGA	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	Exception_encountered	1.37:g.12446387_12446388insCCAGGAGA	ENSP00000350854:p.Val3877fs	False	False		Somatic	0				VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Frame_Shift_Ins_p.V3852fs	p.V3877fs	NM_015378.2	NP_056193.2	WXS	Illumina HiSeq	Phase_I	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	60	11758_11759	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	3876						Frame_Shift_Ins	INS	ENST00000358136.3	37	c.11628_11629insCCAGGAGA	CCDS30588.1																																																																																				0.411	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	0	NM_015378		1:12446387
HEATR1	55127	broad.mit.edu	37	1	236766574	236766575	+	In_Frame_Ins	INS	-	-	TGTAAAAAATTAAGTAGTTGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:236766574_236766575insTGTAAAAAATTAAGTAGTTGA	ENST00000366582.3	-	3	358_359	c.244_245insTCAACTACTTAATTTTTTACA	c.(244-246)cag>cTCAACTACTTAATTTTTTACAag	p.82_82Q>LNYLIFYK	HEATR1_ENST00000366579.1_In_Frame_Ins_p.82_82Q>LNYLIFYK|HEATR1_ENST00000366581.2_In_Frame_Ins_p.82_82Q>LNYLIFYK	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	82					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGCTTTGGTCTGAACACTTCGC	0.436																																						ENST00000366582.3		NA																	0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(244-246)cag>cTCAACTACTTAATTTTTTACAag		HEAT repeat containing 1																																				SO:0001652	inframe_insertion	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236766574_236766575insTGTAAAAAATTAAGTAGTTGA	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.244_245insTCAACTACTTAATTTTTTACA	1.37:g.236766574_236766575insTGTAAAAAATTAAGTAGTTGA	ENSP00000355541:p.Gln82delinsLeuAsnTyrLeuIlePheTyrLys	False	False		Somatic	0				HEATR1_ENST00000366579.1_In_Frame_Ins_p.82_82Q>LNYLIFYK|HEATR1_ENST00000366581.2_In_Frame_Ins_p.82_82Q>LNYLIFYK	p.82_82Q>LNYLIFYK	NM_018072.5	NP_060542.4	WXS	Illumina HiSeq	Phase_I	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		3	358_359	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	82					Q5T3Q8|Q6P197|Q9NW23	In_Frame_Ins	INS	ENST00000366582.3	37	c.244_245insTCAACTACTTAATTTTTTACA	CCDS31066.1																																																																																				0.436	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	0	XM_375853		1:236766574
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TGCTGCG	TGCTGCG	-	-	TGCTGCG	TGCTGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3		NA																	0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgctgcgtgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs	False	False		Somatic	1					p.CCV203fs	NM_001004136.1	NP_001004136.1	WXS	Illumina HiSeq	Phase_I	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	0	NM_001004136		1:248616705
ABCG5	64240	broad.mit.edu	37	2	44047223	44047224	+	In_Frame_Ins	INS	-	-	TAAGAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:44047223_44047224insTAAGAT	ENST00000260645.1	-	11	1618_1619	c.1479_1480insATCTTA	c.(1477-1482)catcct>catATCTTAcct	p.493_494HP>HILP	ABCG5_ENST00000405322.1_In_Frame_Ins_p.322_323HP>HILP|ABCG5_ENST00000543989.1_In_Frame_Ins_p.98_99HP>HILP	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	493	ABC transmembrane type-2.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GCAACCTCAGGATGTAAGCCCA	0.426																																						ENST00000405322.1		NA																	0				breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(964-969)catcct>catATCTTAcct		ATP-binding cassette, sub-family G (WHITE), member 5																																				SO:0001652	inframe_insertion	64240				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44047223_44047224insTAAGAT	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1479_1480insATCTTA	2.37:g.44047223_44047224insTAAGAT	ENSP00000260645:p.His493_Pro494insIleLeu	False	False		Somatic	0				ABCG5_ENST00000543989.1_In_Frame_Ins_p.98_99HP>HILP|ABCG5_ENST00000260645.1_In_Frame_Ins_p.493_494HP>HILP	p.322_323HP>HILP			WXS	Illumina HiSeq	Phase_I	Q9H222	ABCG5_HUMAN			8	1862_1863	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	493					Q2T9G2|Q96QZ2|Q96QZ3	In_Frame_Ins	INS	ENST00000260645.1	37	c.966_967insATCTTA	CCDS1814.1																																																																																				0.426	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	0	NM_022436		2:44047223
AGAP1	116987	broad.mit.edu	37	2	236659109	236659110	+	Frame_Shift_Ins	INS	-	-	ATGTAATTAGTTTATGAATC	rs112666282	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:236659109_236659110insATGTAATTAGTTTATGAATC	ENST00000304032.8	+	6	1230_1231	c.650_651insATGTAATTAGTTTATGAATC	c.(649-654)aatgtgfs	p.NV217fs	AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000409538.1_Frame_Shift_Ins_p.NV482fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000428334.2_Frame_Shift_Ins_p.NV56fs	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	217	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TACGGGCTGAATGTGGAGAGGG	0.55																																						ENST00000409538.1		NA																	0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(1444-1449)aatgtgfs		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1																																				SO:0001589	frameshift_variant	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236659109_236659110insATGTAATTAGTTTATGAATC	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	Exception_encountered	2.37:g.236659109_236659110insATGTAATTAGTTTATGAATC	ENSP00000307634:p.Asn217fs	False	False		Somatic	0				AGAP1_ENST00000428334.2_Frame_Shift_Ins_p.NV56fs|AGAP1_ENST00000304032.7_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000336665.5_Frame_Shift_Ins_p.NV217fs|AGAP1_ENST00000409457.1_Frame_Shift_Ins_p.NV217fs	p.NV482fs			WXS	Illumina HiSeq	Phase_I	Q9UPQ3	AGAP1_HUMAN			6	1941_1942	+			217			PH.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Frame_Shift_Ins	INS	ENST00000304032.8	37	c.1445_1446insATGTAATTAGTTTATGAATC	CCDS33408.1																																																																																				0.550	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	NM_014914		2:236659109
CNOT10	25904	broad.mit.edu	37	3	32776413	32776414	+	Frame_Shift_Ins	INS	-	-	TATTTTAAAATAAGGCTCTTTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:32776413_32776414insTATTTTAAAATAAGGCTCTTTT	ENST00000328834.5	+	12	1775_1776	c.1459_1460insTATTTTAAAATAAGGCTCTTTT	c.(1459-1461)aatfs	p.N487fs	CNOT10_ENST00000538368.1_Frame_Shift_Ins_p.N259fs|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.N547fs|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.N487fs	NM_015442.2	NP_056257.1	Q9H9A5	CNO10_HUMAN	CCR4-NOT transcription complex, subunit 10	487					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						TGGGGCTAAAAATAGTAATCAA	0.441																																						ENST00000328834.5		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						c.(1459-1461)aatfs		CCR4-NOT transcription complex, subunit 10																																				SO:0001589	frameshift_variant	25904				nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding	g.chr3:32776413_32776414insTATTTTAAAATAAGGCTCTTTT	BC002928	CCDS2655.1, CCDS58821.1, CCDS58822.1	3p23	2013-01-10			ENSG00000182973	ENSG00000182973		"""Tetratricopeptide (TTC) repeat domain containing"""	23817	protein-coding gene	gene with protein product							Standard	NR_046352		Approved	FLJ12890, FLJ13165	uc011axj.2	Q9H9A5	OTTHUMG00000130748	Exception_encountered	3.37:g.32776413_32776414insTATTTTAAAATAAGGCTCTTTT	ENSP00000330060:p.Asn487fs	True	False		Somatic	0				CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.N487fs|CNOT10-AS1_ENST00000475395.2_RNA|CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.N547fs|CNOT10_ENST00000538368.1_Frame_Shift_Ins_p.N259fs	p.N487fs	NM_015442.2	NP_056257.1	WXS	Illumina HiSeq	Phase_I	Q9H9A5	CNOTA_HUMAN			12	1775_1776	+			487					B7Z7L1|F8WAF2|Q9BU30|Q9H5J7|Q9H8X1|Q9H9W0|Q9HAH3|Q9UFJ2	Frame_Shift_Ins	INS	ENST00000328834.5	37	c.1459_1460insTATTTTAAAATAAGGCTCTTTT	CCDS2655.1																																																																																				0.441	CNOT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253248.2	0	NM_015442		3:32776413
KIF15	56992	broad.mit.edu	37	3	44816889	44816890	+	Frame_Shift_Ins	INS	-	-	ATAT	rs562916379		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:44816889_44816890insATAT	ENST00000326047.4	+	3	355_356	c.206_207insATAT	c.(205-210)accttcfs	p.F70fs		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	70	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAGCCCAAGACCTTCACGTTTG	0.45																																						ENST00000326047.4		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(205-210)accttcfs		kinesin family member 15																																				SO:0001589	frameshift_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44816889_44816890insATAT	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	Exception_encountered	3.37:g.44816889_44816890insATAT	ENSP00000324020:p.Phe70fs	False	False		Somatic	0					p.F70fs	NM_020242.2	NP_064627.1	WXS	Illumina HiSeq	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	3	355_356	+			70			Kinesin-motor.		Q17RV9|Q69YL6|Q96JX7|Q9H280	Frame_Shift_Ins	INS	ENST00000326047.4	37	c.206_207insATAT	CCDS33744.1																																																																																				0.450	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	0			3:44816889
KIF15	56992	broad.mit.edu	37	3	44816890	44816891	+	Frame_Shift_Ins	INS	-	-	CCATACAAAT	rs562916379		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:44816890_44816891insCCATACAAAT	ENST00000326047.4	+	3	356_357	c.207_208insCCATACAAAT	c.(208-210)ttcfs	p.-69fs		NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGCCCAAGACCTTCACGTTTGA	0.446																																						ENST00000326047.4		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(208-210)ttcfs		kinesin family member 15																																				SO:0001589	frameshift_variant	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44816890_44816891insCCATACAAAT	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	Exception_encountered	3.37:g.44816890_44816891insCCATACAAAT	ENSP00000324020:p.Thr69fs	False	False		Somatic	0					p.-69fs	NM_020242.2	NP_064627.1	WXS	Illumina HiSeq	Phase_I	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	3	356_357	+			NA					Q17RV9|Q69YL6|Q96JX7|Q9H280	Frame_Shift_Ins	INS	ENST00000326047.4	37	c.207_208insCCATACAAAT	CCDS33744.1																																																																																				0.446	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2	0			3:44816890
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	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
CCDC66	285331	broad.mit.edu	37	3	56627108	56627109	+	In_Frame_Ins	INS	-	-	ATTTAATCCACT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:56627108_56627109insATTTAATCCACT	ENST00000394672.3	+	8	1117_1118	c.1047_1048insATTTAATCCACT	c.(1048-1050)gaa>ATTTAATCCACTgaa	p.349_350insI*ST	CCDC66_ENST00000326595.7_In_Frame_Ins_p.315_316insI*ST|CCDC66_ENST00000436465.2_In_Frame_Ins_p.349_350insI*ST	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	349					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		GAAAAATAGAGGAAAAAATTAT	0.302																																						ENST00000394672.3		NA																	0				breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12						c.(1048-1050)gaa>ATTTAATCCACTgaa		coiled-coil domain containing 66																																				SO:0001652	inframe_insertion	285331							g.chr3:56627108_56627109insATTTAATCCACT	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	Exception_encountered	3.37:g.56627108_56627109insATTTAATCCACT	ENSP00000378167:p.Glu349_Glu350insIle*SerThr	True	False		Somatic	0				CCDC66_ENST00000326595.7_In_Frame_Ins_p.315_316insI*ST|CCDC66_ENST00000436465.2_In_Frame_Ins_p.349_350insI*ST	p.349_350insI*ST	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	WXS	Illumina HiSeq	Phase_I	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	8	1117_1118	+			349					B3KWL8|Q4VC34|Q8N949	In_Frame_Ins	INS	ENST00000394672.3	37	c.1047_1048insATTTAATCCACT	CCDS46852.1																																																																																				0.302	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	0	NM_001012506		3:56627108
MAATS1	89876	broad.mit.edu	37	3	119451310	119451311	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:119451310_119451311insT	ENST00000273390.5	+	9	1265_1266	c.1188_1189insT	c.(1189-1191)aacfs	p.N397fs		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)		p.L396L(1)									ACTACTATCTCAACACCTATGA	0.322																																						ENST00000273390.5		NA																	1	Substitution - coding silent(1)	p.L396L(1)	urinary_tract(1)		NA						c.(1189-1191)aacfs		MYCBP-associated, testis expressed 1																																				SO:0001589	frameshift_variant	89876							g.chr3:119451310_119451311insT	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	Exception_encountered	3.37:g.119451310_119451311insT	ENSP00000273390:p.Asn397fs	False	False		Somatic	0					p.N397fs	NM_033364.3	NP_203528.2	WXS	Illumina HiSeq	Phase_I					9	1265_1266	+			NA					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Frame_Shift_Ins	INS	ENST00000273390.5	37	c.1188_1189insT	CCDS2994.1																																																																																				0.322	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	0	NM_033364		3:119451310
MAATS1	89876	broad.mit.edu	37	3	119451311	119451312	+	Frame_Shift_Ins	INS	-	-	AAATATTGTTCTGAATT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:119451311_119451312insAAATATTGTTCTGAATT	ENST00000273390.5	+	9	1266_1267	c.1189_1190insAAATATTGTTCTGAATT	c.(1189-1191)aacfs	p.N397fs		NM_033364.3	NP_203528	Q7Z4T9	MAAT1_HUMAN	MYCBP-associated, testis expressed 1	0						mitochondrion (GO:0005739)											CTACTATCTCAACACCTATGAA	0.322																																						ENST00000273390.5		NA																	0					NA						c.(1189-1191)aacfs		MYCBP-associated, testis expressed 1																																				SO:0001589	frameshift_variant	89876							g.chr3:119451311_119451312insAAATATTGTTCTGAATT	AB063296	CCDS2994.1	3q12-q13.3	2014-07-31	2012-12-07	2012-09-26	ENSG00000183833	ENSG00000183833			24010	protein-coding gene	gene with protein product	"""AMY-1-associating protein expressed in testis 1"", ""MYCBP-binding protein"", ""spermatogenesis associated 26"""	609910	"""chromosome 3 open reading frame 15"", ""MYCBP/AMY-1-associated, testis expressed 1"""	C3orf15		12223483, 14551891, 17967944	Standard	NM_033364		Approved	AAT1, AAT1alpha, SPATA26, CaM-IP2	uc003ede.4	Q7Z4T9	OTTHUMG00000159422	Exception_encountered	3.37:g.119451311_119451312insAAATATTGTTCTGAATT	ENSP00000273390:p.Asn397fs	False	False		Somatic	0					p.N397fs	NM_033364.3	NP_203528.2	WXS	Illumina HiSeq	Phase_I					9	1266_1267	+			NA					A0AVK2|A8K1J9|B3KP23|B4DG52|B4DZ14|C9JUG4|Q68DX2|Q8TD41|Q96A45|Q96JE8	Frame_Shift_Ins	INS	ENST00000273390.5	37	c.1189_1190insAAATATTGTTCTGAATT	CCDS2994.1																																																																																				0.322	MAATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355222.1	0	NM_033364		3:119451311
ATP2C1	27032	broad.mit.edu	37	3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAAACCATC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:130672697_130672698insTATCAAAACCATC	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAAACCATC	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1		NA																	0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(565-567)acafs		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130672697_130672698insTATCAAAACCATC	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	Exception_encountered	3.37:g.130672697_130672698insTATCAAAACCATC	ENSP00000427461:p.Thr189fs	False	False		Somatic	0				ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs	p.T189fs			WXS	Illumina HiSeq	Phase_I	P98194	AT2C1_HUMAN			9	1114_1115	+			189					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Ins	INS	ENST00000510168.1	37	c.564_565insTATCAAAACCATC	CCDS46914.1																																																																																				0.431	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	NM_001001486		3:130672697
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
PRKCI	5584	broad.mit.edu	37	3	169998131	169998132	+	Frame_Shift_Ins	INS	-	-	GATATTTTCCTAACAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:169998131_169998132insGATATTTTCCTAACAT	ENST00000295797.4	+	9	1127_1128	c.822_823insGATATTTTCCTAACAT	c.(823-825)aaafs	p.K275fs		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	275	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TTCGATTAAAAAAAACAGATCG	0.361																																						ENST00000295797.4		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36						c.(823-825)aaafs		protein kinase C, iota																																				SO:0001589	frameshift_variant	5584				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding	g.chr3:169998131_169998132insGATATTTTCCTAACAT		CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	Exception_encountered	3.37:g.169998131_169998132insGATATTTTCCTAACAT	ENSP00000295797:p.Lys275fs	True	False		Somatic	0					p.K275fs	NM_002740.5	NP_002731.4	WXS	Illumina HiSeq	Phase_I	P41743	KPCI_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		9	1127_1128	+	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		275			Protein kinase.		D3DNQ4|Q8WW06	Frame_Shift_Ins	INS	ENST00000295797.4	37	c.822_823insGATATTTTCCTAACAT	CCDS3212.2																																																																																				0.361	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	0	NM_002740		3:169998131
VPS8	23355	broad.mit.edu	37	3	184542503	184542504	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENST00000437079.3	+	2	254_255	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	c.(82-87)aatctafs	p.NL28fs	VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000436792.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	28							zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			AAGTCTTTCAATCTAGAAGCTT	0.351																																						ENST00000436792.2		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(82-87)aatctafs		vacuolar protein sorting 8 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	23355						zinc ion binding	g.chr3:184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	AK056661	CCDS46972.1	3q27.2	2006-07-07	2006-07-07	2006-07-07	ENSG00000156931	ENSG00000156931			29122	protein-coding gene	gene with protein product			"""KIAA0804"""	KIAA0804		9872452	Standard	NM_001009921		Approved	FLJ32099	uc003fpb.1	Q8N3P4	OTTHUMG00000156707	Exception_encountered	3.37:g.184542503_184542504insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	ENSP00000397879:p.Asn28fs	False	False		Somatic	0				VPS8_ENST00000437079.3_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000287546.4_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000446204.2_Frame_Shift_Ins_p.NL28fs|VPS8_ENST00000424463.2_Frame_Shift_Ins_p.NL28fs	p.NL28fs			WXS	Illumina HiSeq	Phase_I	Q8N3P4	VPS8_HUMAN	Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)		2	226_227	+	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		28					A8K8Q8|B9EIQ1|C9JB61|O94896|Q63HP2|Q9BVP9|Q9H9B0	Frame_Shift_Ins	INS	ENST00000437079.3	37	c.83_84insAAAAAGAAAAAAACAAAAACAAAACAAAACACTATCAT	CCDS46971.1																																																																																				0.351	VPS8-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		0	NM_015303		3:184542503
HTT	3064	broad.mit.edu	37	4	3189588	3189589	+	In_Frame_Ins	INS	-	-	TAATAC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:3189588_3189589insTAATAC	ENST00000355072.5	+	39	5345_5346	c.5200_5201insTAATAC	c.(5200-5202)aat>aTAATACat	p.1734_1734N>IIH		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1734					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ACAAATAAAGAATTTGCCAGAA	0.386																																						ENST00000355072.5		NA																	0				breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87						c.(5200-5202)aat>aTAATACat		huntingtin																																				SO:0001652	inframe_insertion	3064				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding	g.chr4:3189588_3189589insTAATAC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	Exception_encountered	4.37:g.3189588_3189589insTAATAC	ENSP00000347184:p.Asn1734delinsIleIleHis	True	False		Somatic	0					p.1734_1734N>IIH	NM_002111.6	NP_002102.4	WXS	Illumina HiSeq	Phase_I	P42858	HD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)	39	5345_5346	+		all_epithelial(65;0.18)	1734					Q9UQB7	In_Frame_Ins	INS	ENST00000355072.5	37	c.5200_5201insTAATAC	CCDS43206.1																																																																																				0.386	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2	0	NM_002111		4:3189588
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
NUP54	53371	broad.mit.edu	37	4	77053791	77053792	+	Frame_Shift_Ins	INS	-	-	AAAAAGAAAGATTTAGAAC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAAC	ENST00000264883.3	-	6	931_932	c.791_792insGTTCTAAATCTTTCTTTTT	c.(790-792)catfs	p.H264fs	NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000515460.1_5'Flank|NUP54_ENST00000514987.1_Frame_Shift_Ins_p.H216fs|NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	264	9 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						CTTGTTCAAAATGGGCATATAG	0.386																																						ENST00000514987.1		NA																	0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(646-648)catfs		nucleoporin 54kDa																																				SO:0001589	frameshift_variant	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77053791_77053792insAAAAAGAAAGATTTAGAAC	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.791_792insGTTCTAAATCTTTCTTTTT	4.37:g.77053791_77053792insAAAAAGAAAGATTTAGAAC	ENSP00000264883:p.His264fs	True	False		Somatic	0				NUP54_ENST00000458189.2_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000342467.6_Frame_Shift_Ins_p.H84fs|NUP54_ENST00000264883.3_Frame_Shift_Ins_p.H264fs	p.H216fs			WXS	Illumina HiSeq	Phase_I	Q7Z3B4	NUP54_HUMAN			5	669_670	-			264			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Frame_Shift_Ins	INS	ENST00000264883.3	37	c.647_648insGTTCTAAATCTTTCTTTTT	CCDS3576.1																																																																																				0.386	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3	0			4:77053791
ZNF354A	6940	broad.mit.edu	37	5	178139809	178139810	+	Frame_Shift_Ins	INS	-	-	ACTGGAGAGAAGTTTTA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:178139809_178139810insACTGGAGAGAAGTTTTA	ENST00000335815.2	-	5	1266_1267	c.1069_1070insTAAAACTTCTCTCCAGT	c.(1069-1071)aatfs	p.N357fs		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	357					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GCCACATTCATTACATAAGTAG	0.411																																						ENST00000335815.2		NA																	0				breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19						c.(1069-1071)aatfs		zinc finger protein 354A																																				SO:0001589	frameshift_variant	6940				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:178139809_178139810insACTGGAGAGAAGTTTTA	AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.1069_1070insTAAAACTTCTCTCCAGT	5.37:g.178139809_178139810insACTGGAGAGAAGTTTTA	ENSP00000337122:p.Asn357fs	True	False		Somatic	0					p.N357fs	NM_005649.2	NP_005640.2	WXS	Illumina HiSeq	Phase_I	O60765	Z354A_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)	5	1266_1267	-	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	357					Q9UNJ8	Frame_Shift_Ins	INS	ENST00000335815.2	37	c.1069_1070insTAAAACTTCTCTCCAGT	CCDS4438.1																																																																																				0.411	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	0	NM_005649		5:178139809
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
FAM8A1	51439	broad.mit.edu	37	6	17605243	17605248	+	In_Frame_Del	DEL	TTAGTT	TTAGTT	-	rs143076391	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	TTAGTT	TTAGTT	-	-	TTAGTT	TTAGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:17605243_17605248delTTAGTT	ENST00000259963.3	+	3	995_1000	c.940_945delTTAGTT	c.(940-945)ttagttdel	p.LV314del		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	314	RDD.					integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			ATACAGATTATTAGTTTGTTTCTATG	0.301																																						ENST00000259963.3		NA																	0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(940-945)ttagttdel		family with sequence similarity 8, member A1																																				SO:0001651	inframe_deletion	51439					integral to membrane		g.chr6:17605243_17605248delTTAGTT	AF097027	CCDS4540.1	6p23	2010-11-22			ENSG00000137414	ENSG00000137414			16372	protein-coding gene	gene with protein product						11707071	Standard	NM_016255		Approved	AHCP	uc003ncc.3	Q9UBU6	OTTHUMG00000014309	ENST00000259963.3:c.940_945delTTAGTT	6.37:g.17605243_17605248delTTAGTT	ENSP00000259963:p.Leu314_Val315del	True	False		Somatic	1					p.LV314del	NM_016255.2	NP_057339.1	WXS	Illumina HiSeq	Phase_I	Q9UBU6	FA8A1_HUMAN	all cancers(50;0.176)|Epithelial(50;0.204)		3	995_1000	+	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	314			RDD.		B2R725	In_Frame_Del	DEL	ENST00000259963.3	37	c.940_945delTTAGTT	CCDS4540.1																																																																																				0.301	FAM8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039950.1	0			6:17605243
CUTA	51596	broad.mit.edu	37	6	33384506	33384507	+	Frame_Shift_Ins	INS	-	-	TTTTG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:33384506_33384507insTTTTG	ENST00000488034.1	-	6	581_582	c.460_461insCAAAA	c.(460-462)gaafs	p.E154fs	CUTA_ENST00000440279.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-137fs|CUTA_ENST00000374500.5_Frame_Shift_Ins_p.E173fs|CUTA_ENST00000492510.1_5'Flank|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.E131fs	NM_001014837.1|NM_001014838.1|NM_001014840.1|NM_015921.2	NP_001014837.1|NP_001014838.1|NP_001014840.1|NP_057005.1	O60888	CUTA_HUMAN	cutA divalent cation tolerance homolog (E. coli)	154					protein localization (GO:0008104)|response to metal ion (GO:0010038)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)		SLC22A1/CUTA(2)	kidney(1)|lung(3)|urinary_tract(1)	5						GTTCCCCTGTTCCACAGGCAAT	0.515																																						ENST00000374500.5		NA																SLC22A1/CUTA(2)	0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(517-519)gaafs		cutA divalent cation tolerance homolog (E. coli)																																				SO:0001589	frameshift_variant	51596				protein localization|response to metal ion	membrane	enzyme binding	g.chr6:33384506_33384507insTTTTG	AF106943	CCDS4779.1, CCDS34432.1, CCDS34433.1	6p21.32	2008-02-04	2006-02-15	2006-02-15	ENSG00000112514	ENSG00000112514			21101	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 82"", ""acetylcholinesterase-associated protein"""	C6orf82, ACHAP			Standard	XM_006715108		Approved		uc003oen.1	O60888	OTTHUMG00000031254	ENST00000488034.1:c.460_461insCAAAA	6.37:g.33384506_33384507insTTTTG	ENSP00000417544:p.Glu154fs	False	False		Somatic	0				CUTA_ENST00000440279.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000374496.3_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000488034.1_Frame_Shift_Ins_p.E154fs|CUTA_ENST00000494751.1_Intron|CUTA_ENST00000607266.1_Frame_Shift_Ins_p.E131fs|CUTA_ENST00000488478.1_Frame_Shift_Ins_p.-137fs	p.E173fs	NM_001014433.2	NP_001014433.1	WXS	Illumina HiSeq	Phase_I	O60888	CUTA_HUMAN			6	648_649	-			154					A2AB26|A2BEL4|Q3B784|Q5JXM9|Q5SU05|Q9NYQ9	Frame_Shift_Ins	INS	ENST00000488034.1	37	c.517_518insCAAAA	CCDS34433.1																																																																																				0.515	CUTA-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076541.3	0	NM_015921		6:33384506
DST	667	broad.mit.edu	37	6	56473888	56473889	+	Frame_Shift_Ins	INS	-	-	TTATTTTC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:56473888_56473889insTTATTTTC	ENST00000361203.3	-	36	4911_4912	c.4904_4905insGAAAATAA	c.(4903-4905)tctfs	p.-1635fs	DST_ENST00000370754.5_Frame_Shift_Ins_p.-1813fs|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Frame_Shift_Ins_p.-1635fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.-1309fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.-1635fs			Q03001	DYST_HUMAN	dystonin						axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTGACGCAGCAGAAATAATCTC	0.401																																						ENST00000361203.3		NA																	0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(4903-4905)tctfs		dystonin																																				SO:0001589	frameshift_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56473888_56473889insTTATTTTC	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.4904_4905insGAAAATAA	6.37:g.56473888_56473889insTTATTTTC	ENSP00000354508:p.Ser1635fs	True	False		Somatic	0				DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Frame_Shift_Ins_p.-1635fs|DST_ENST00000370754.5_Frame_Shift_Ins_p.-1813fs|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Frame_Shift_Ins_p.-1309fs|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Frame_Shift_Ins_p.-1635fs	p.-1635fs			WXS	Illumina HiSeq	Phase_I	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		36	4911_4912	-	Lung NSC(77;0.103)		NA					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Frame_Shift_Ins	INS	ENST00000361203.3	37	c.4904_4905insGAAAATAA																																																																																					0.401	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	0	NM_001723		6:56473888
BEND6	221336	broad.mit.edu	37	6	56846687	56846688	+	Frame_Shift_Ins	INS	-	-	AAACATGACACATAACATATTCACAACTG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:56846687_56846688insAAACATGACACATAACATATTCACAACTG	ENST00000370746.3	+	2	348_349	c.79_80insAAACATGACACATAACATATTCACAACTG	c.(79-81)atgfs	p.M27fs	BEND6_ENST00000370750.2_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370745.1_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370748.3_Frame_Shift_Ins_p.M27fs	NM_152731.2	NP_689944.2	Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	27					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)		RNA polymerase II transcription corepressor activity (GO:0001106)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AACAGAGACAATGGACTCAGAA	0.347																																						ENST00000370746.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						c.(79-81)atgfs		BEN domain containing 6																																				SO:0001589	frameshift_variant	221336							g.chr6:56846687_56846688insAAACATGACACATAACATATTCACAACTG	AK054724	CCDS43476.1	6p12.1	2012-11-22	2008-10-03	2008-10-03	ENSG00000151917	ENSG00000151917		"""BEN domain containing"""	20871	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 65"""	C6orf65			Standard	NM_152731		Approved	FLJ30162, bA203B9.1	uc010kab.3	Q5SZJ8	OTTHUMG00000014914	Exception_encountered	6.37:g.56846687_56846688insAAACATGACACATAACATATTCACAACTG	ENSP00000359782:p.Met27fs	False	False		Somatic	0				BEND6_ENST00000370750.2_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370745.1_Frame_Shift_Ins_p.M27fs|BEND6_ENST00000370748.3_Frame_Shift_Ins_p.M27fs	p.M27fs	NM_152731.2	NP_689944.2	WXS	Illumina HiSeq	Phase_I	Q5SZJ8	BEND6_HUMAN			2	348_349	+			27					Q4G0W8|Q8N662|Q96NS6	Frame_Shift_Ins	INS	ENST00000370746.3	37	c.79_80insAAACATGACACATAACATATTCACAACTG	CCDS43476.1																																																																																				0.347	BEND6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041032.4	0	NM_152731		6:56846687
AK9	221264	broad.mit.edu	37	6	109850201	109850201	+	Intron	DEL	C	C	-	rs577355457|rs201441562|rs560850105|rs72613250|rs72331392	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:109850201delC	ENST00000424296.2	-	29	3710				AK9_ENST00000341338.6_Intron|AK9_ENST00000355283.1_Frame_Shift_Del_p.V295fs	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9						ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										aaaaaaaaaacaaaaCTACTT	0.413													|||unknown(HR)	663	0.132388	0.0333	0.1167	5008	,	,		17019	0.1974		0.0964	False		,,,				2504	0.2474					ENST00000355283.1		NA																	0					NA						c.(883-885)gttfs		adenylate kinase 9							40.0	27.0	32.0					6																	109850201		2117	3722	5839	SO:0001627	intron_variant	221264							g.chr6:109850201delC	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3633+12G>-	6.37:g.109850201delC		True	False		Somatic	1				AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron	p.V295fs			WXS	Illumina HiSeq	Phase_I					5	1129	-			NA					A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Frame_Shift_Del	DEL	ENST00000424296.2	37	c.883delG	CCDS55048.1																																																																																				0.413	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001145128		6:109850201
BCLAF1	9774	broad.mit.edu	37	6	136597648	136597649	+	Splice_Site	INS	-	-	TTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	ENST00000531224.1	-	5	1269		c.e5-2		BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1						apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTGTGAACCTGCGAATAAGCA	0.441																																					Colon(142;1534 1789 5427 7063 28491)	ENST00000531224.1		NA																	0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9						c.e5-2		BCL2-associated transcription factor 1																																				SO:0001630	splice_region_variant	9774				induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr6:136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.1017-2->GTTTTATCCTGATGGTGGAGATCAGGAAACTGCAAAGACTGGGAAGTTCTTAAAA	6.37:g.136597648_136597649insTTTTAAGAACTTCCCAGTCTTTGCAGTTTCCTGATCTCCACCATCAGGATAAAAC		False	False		Somatic	0				BCLAF1_ENST00000527759.1_Splice_Site|BCLAF1_ENST00000392348.2_Splice_Site|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000353331.4_Splice_Site|BCLAF1_ENST00000527536.1_Splice_Site		NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	WXS	Illumina HiSeq	Phase_I	Q9NYF8	BCLF1_HUMAN		GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)	5	1269	-	Colorectal(23;0.24)		NA					A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Splice_Site	INS	ENST00000531224.1	37		CCDS5177.1																																																																																				0.441	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	0	NM_014739	Intron	6:136597648
AEBP1	165	broad.mit.edu	37	7	44153778	44153780	+	In_Frame_Del	DEL	AGA	AGA	-	rs13928	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:44153778_44153780delAGA	ENST00000223357.3	+	21	3700_3702	c.3395_3397delAGA	c.(3394-3399)gagaaa>gaa	p.K1133del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1133	Glu-rich.|Interaction with MAPK1 and MAPK3. {ECO:0000250}.|Required for transcriptional repression. {ECO:0000250}.		K -> E (in dbSNP:rs13928). {ECO:0000269|Ref.3}.		cell adhesion (GO:0007155)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						gaggaggaggagaaagaggagga	0.552																																						ENST00000223357.3		NA																	0				NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						c.(3394-3399)gagaaa>gaa		AE binding protein 1																																				SO:0001651	inframe_deletion	165				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:44153778_44153780delAGA	D86479	CCDS5476.1	7p	2008-07-18	2001-11-28		ENSG00000106624	ENSG00000106624			303	protein-coding gene	gene with protein product	"""aortic carboxypeptidase-like protein"", ""adipocyte enhancer binding protein 1"""	602981	"""AE-binding protein 1"""			8920928	Standard	NM_001129		Approved	ACLP	uc003tkb.4	Q8IUX7	OTTHUMG00000023362	ENST00000223357.3:c.3395_3397delAGA	7.37:g.44153778_44153780delAGA	ENSP00000223357:p.Lys1133del	True	False		Somatic	1				AEBP1_ENST00000450684.2_In_Frame_Del_p.K708del	p.K1133del	NM_001129.3	NP_001120.3	WXS	Illumina HiSeq	Phase_I	Q8IUX7	AEBP1_HUMAN			21	3700_3702	+			1133		K -> E (in dbSNP:rs13928).	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).		Q14113|Q59ER7|Q6ZSC7|Q7KZ79	In_Frame_Del	DEL	ENST00000223357.3	37	c.3395_3397delAGA	CCDS5476.1																																																																																				0.552	AEBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250993.2	0	NM_001129		7:44153778
ZMIZ2	83637	broad.mit.edu	37	7	44797065	44797109	+	In_Frame_Del	DEL	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	rs557719047|rs142075074|rs371185257	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	-	-	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	GTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENST00000309315.4	+	5	580_624	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel	p.VAAAAATATATATAT153del	ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	153	Ala-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)	p.A164G(1)|p.A147_A155del(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						tgctgcagctgtggctgctgcggcagccactgccaccgccacagccacagccaccgtggctgctC	0.678																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4		NA																	2	Substitution - Missense(1)|Deletion - In frame(1)	p.A164G(1)|p.A147_A155del(1)	large_intestine(1)|breast(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(457-501)gtggctgctgcggcagccactgccaccgccacagccacagccaccdel		zinc finger, MIZ-type containing 2																																				SO:0001651	inframe_deletion	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	7.37:g.44797065_44797109delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	ENSP00000311778:p.Val153_Thr167del	False	False		Somatic	1				ZMIZ2_ENST00000265346.7_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000441627.1_In_Frame_Del_p.VAAAAATATATATAT153del|ZMIZ2_ENST00000433667.1_In_Frame_Del_p.VAAAAATATATATAT121del|ZMIZ2_ENST00000413916.1_In_Frame_Del_p.VAAAAATATATATAT121del	p.VAAAAATATATATAT153del	NM_031449.3	NP_113637.3	WXS	Illumina HiSeq	Phase_I	Q8NF64	ZMIZ2_HUMAN			5	580_624	+			153			Ala-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	In_Frame_Del	DEL	ENST00000309315.4	37	c.457_501delGTGGCTGCTGCGGCAGCCACTGCCACCGCCACAGCCACAGCCACC	CCDS43576.1																																																																																				0.678	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	0	NM_031449		7:44797065
ELTD1	64123	broad.mit.edu	37	1	79403873	79403874	+	In_Frame_Ins	INS	-	-	AAAGACATACTTTTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr1:79403873_79403874insAAAGACATACTTTTT	ENST00000370742.3	-	5	550_551	c.487_488insAAAAAGTATGTCTTT	c.(487-489)ata>aAAAAAGTATGTCTTTta	p.163_163I>KKVCLL		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	163					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TAATATTTCTATATATGTAATT	0.342																																						ENST00000370742.3		NA																	0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69						c.(487-489)ata>aAAAAAGTATGTCTTTta		EGF, latrophilin and seven transmembrane domain containing 1																																				SO:0001652	inframe_insertion	64123				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr1:79403873_79403874insAAAGACATACTTTTT	AF192403	CCDS41352.1	1p33-p32	2014-08-08			ENSG00000162618	ENSG00000162618		"""-"", ""GPCR / Class B : Orphans"""	20822	protein-coding gene	gene with protein product						11050079	Standard	NM_022159		Approved	ETL	uc001diq.4	Q9HBW9	OTTHUMG00000009738	ENST00000370742.3:c.487_488insAAAAAGTATGTCTTT	1.37:g.79403873_79403874insAAAGACATACTTTTT	ENSP00000359778:p.Ile163delinsLysLysValCysLeuLeu	True	False		Somatic	0					p.163_163I>KKVCLL	NM_022159.3	NP_071442.2	WXS	Illumina HiSeq	Phase_I	Q9HBW9	ELTD1_HUMAN		COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)	5	550_551	-			163					B1AR71|Q5KU34	In_Frame_Ins	INS	ENST00000370742.3	37	c.487_488insAAAAAGTATGTCTTT	CCDS41352.1																																																																																				0.342	ELTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026859.1	0	NM_022159		1:79403873
PTK2	5747	broad.mit.edu	37	8	141774449	141774450	+	Intron	INS	-	-	AAGTTATTGATACTTACTGTCTTT			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTT	ENST00000522684.1	-	15	1407				PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000519465.1_Start_Codon_Ins|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTGGTATTTCATATAATTAAAG	0.327																																						ENST00000519465.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48								protein tyrosine kinase 2																																				SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774449_141774450insAAGTTATTGATACTTACTGTCTTT	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-60->AAAGACAGTAAGTATCAATAACTT	8.37:g.141774449_141774450insAAGTTATTGATACTTACTGTCTTT		False	False		Somatic	0				PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000520151.1_Start_Codon_Ins				WXS	Illumina HiSeq	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		0	172_173	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	NA					B4E2N6|F5H4S4|Q14291|Q9UD85	Translation_Start_Site	INS	ENST00000522684.1	37		CCDS6381.1																																																																																				0.327	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	NM_005607		8:141774449
KIF24	347240	broad.mit.edu	37	9	34310929	34310930	+	Frame_Shift_Ins	INS	-	-	AATAAATTTTATCTTTC			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:34310929_34310930insAATAAATTTTATCTTTC	ENST00000402558.2	-	1	439_440	c.415_416insGAAAGATAAAATTTATT	c.(415-417)cacfs	p.H139fs	KIF24_ENST00000379166.2_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000345050.2_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.H139fs			Q5T7B8	KIF24_HUMAN	kinesin family member 24	139					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGTAGCATGTGTTCTAGCACT	0.396																																						ENST00000402558.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(415-417)cacfs		kinesin family member 24																																				SO:0001589	frameshift_variant	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34310929_34310930insAATAAATTTTATCTTTC	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.415_416insGAAAGATAAAATTTATT	9.37:g.34310929_34310930insAATAAATTTTATCTTTC	ENSP00000384433:p.His139fs	False	False		Somatic	0				KIF24_ENST00000345050.2_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379174.3_Frame_Shift_Ins_p.H139fs|KIF24_ENST00000379166.2_Frame_Shift_Ins_p.H139fs	p.H139fs			WXS	Illumina HiSeq	Phase_I	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		1	439_440	-			139					Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Frame_Shift_Ins	INS	ENST00000402558.2	37	c.415_416insGAAAGATAAAATTTATT	CCDS6551.2																																																																																				0.396	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5	0			9:34310929
ZNF484	83744	broad.mit.edu	37	9	95608681	95608682	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:95608681_95608682insA	ENST00000375495.3	-	5	2535_2536	c.2387_2388insT	c.(2386-2388)aaafs	p.K796fs	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						TAGTATGAATTTTCTGGTGTTT	0.416																																						ENST00000375495.3		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2386-2388)aaafs		zinc finger protein 484																																				SO:0001589	frameshift_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608681_95608682insA	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2387_2388insT	9.37:g.95608681_95608682insA	ENSP00000364645:p.Lys796fs	True	False		Somatic	0				ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs	p.K796fs	NM_031486.2	NP_113674.1	WXS	Illumina HiSeq	Phase_I	Q5JVG2	ZN484_HUMAN			5	2535_2536	-			796					B1AL89|B4DRI2	Frame_Shift_Ins	INS	ENST00000375495.3	37	c.2387_2388insT	CCDS35066.1																																																																																				0.416	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	0	XM_046861		9:95608681
ZNF484	83744	broad.mit.edu	37	9	95608682	95608683	+	Frame_Shift_Ins	INS	-	-	GAACATCTGGA			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:95608682_95608683insGAACATCTGGA	ENST00000375495.3	-	5	2534_2535	c.2386_2387insTCCAGATGTTC	c.(2386-2388)aaafs	p.K796fs	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs	NM_031486.2	NP_113674.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	796					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						AGTATGAATTTTCTGGTGTTTA	0.411																																						ENST00000375495.3		NA																	0				NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						c.(2386-2388)aaafs		zinc finger protein 484																																				SO:0001589	frameshift_variant	83744				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:95608682_95608683insGAACATCTGGA	AK091203	CCDS35066.1, CCDS35067.1, CCDS59136.1	9q22.32	2013-01-08			ENSG00000127081	ENSG00000127081		"""Zinc fingers, C2H2-type"", ""-"""	23385	protein-coding gene	gene with protein product							Standard	NM_001007101		Approved	BA526D8.4, FLJ33884	uc004asu.2	Q5JVG2	OTTHUMG00000020236	ENST00000375495.3:c.2386_2387insTCCAGATGTTC	9.37:g.95608682_95608683insGAACATCTGGA	ENSP00000364645:p.Lys796fs	True	False		Somatic	0				ZNF484_ENST00000395505.2_Frame_Shift_Ins_p.K760fs|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Frame_Shift_Ins_p.K798fs|ZNF484_ENST00000332591.6_Frame_Shift_Ins_p.K760fs	p.K796fs	NM_031486.2	NP_113674.1	WXS	Illumina HiSeq	Phase_I	Q5JVG2	ZN484_HUMAN			5	2534_2535	-			796					B1AL89|B4DRI2	Frame_Shift_Ins	INS	ENST00000375495.3	37	c.2386_2387insTCCAGATGTTC	CCDS35066.1																																																																																				0.411	ZNF484-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053111.2	0	XM_046861		9:95608682
SMC2	10592	broad.mit.edu	37	9	106864424	106864425	+	Frame_Shift_Ins	INS	-	-	GAATAACTCAAAATTG			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:106864424_106864425insGAATAACTCAAAATTG	ENST00000286398.7	+	8	1108_1109	c.820_821insGAATAACTCAAAATTG	c.(820-822)atafs	p.I274fs	SMC2_ENST00000303219.8_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000374793.3_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.I274fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	274					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGATAAAAAAATAAAAGCACTT	0.307																																						ENST00000286398.7		NA																	0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(820-822)atafs		structural maintenance of chromosomes 2																																				SO:0001589	frameshift_variant	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106864424_106864425insGAATAACTCAAAATTG	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	Exception_encountered	9.37:g.106864424_106864425insGAATAACTCAAAATTG	ENSP00000286398:p.Ile274fs	True	False		Somatic	0				SMC2_ENST00000374793.3_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000303219.8_Frame_Shift_Ins_p.I274fs|SMC2_ENST00000374787.3_Frame_Shift_Ins_p.I274fs	p.I274fs	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina HiSeq	Phase_I	O95347	SMC2_HUMAN			8	1108_1109	+			274					Q6IEE0|Q9P1P2	Frame_Shift_Ins	INS	ENST00000286398.7	37	c.820_821insGAATAACTCAAAATTG	CCDS35086.1																																																																																				0.307	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0			9:106864424
TSC1	7248	broad.mit.edu	37	9	135786954	135786955	+	Splice_Site	INS	-	-	TGCT	rs397515293	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr9:135786954_135786955insTGCT	ENST00000298552.3	-	10	1135_1136	c.914_915insAGCA	c.(913-915)ggg>ggAGCAg	p.-305fs	TSC1_ENST00000440111.2_Splice_Site_p.-305fs|TSC1_ENST00000403810.1_Splice_Site_p.-305fs|TSC1_ENST00000545250.1_Splice_Site_p.-254fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1						activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AAGTAGCACACCCTAAAATGGA	0.406			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													ENST00000298552.3		NA	yes	Rec		Tuberous sclerosis 1	9	9q34	7248	"""D, Mis, N, F, S"""	tuberous sclerosis 1 gene			"""E, O"""		"""hamartoma, renal cell"""			1	Unknown(1)	p.?(1)	bone(1)	NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65						c.(913-915)ggg>ggAGCAg		tuberous sclerosis 1																																				SO:0001630	splice_region_variant	0	Tuberous Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	g.chr9:135786954_135786955insTGCT	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.914-1->AGCA	9.37:g.135786954_135786955insTGCT		True	False		Somatic	0				TSC1_ENST00000440111.2_Splice_Site_p.-305fs|TSC1_ENST00000403810.1_Splice_Site_p.-305fs|TSC1_ENST00000545250.1_Splice_Site_p.-254fs	p.-305fs	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	WXS	Illumina HiSeq	Phase_I	Q92574	TSC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)	10	1135_1136	-			NA					B7Z897|Q5VVN5	Splice_Site	INS	ENST00000298552.3	37	c.914_915insAGCA	CCDS6956.1																																																																																				0.406	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054799.1	0		Frame_Shift_Ins	9:135786954
CTD-2012J19.3	0	broad.mit.edu	37	5	1602656	1602656	+	lincRNA	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:1602656G>A	ENST00000605200.1	+	0	622				RP11-43F13.1_ENST00000507841.1_RNA																							acagagacggggggagaggga	0.458																																						ENST00000605200.1		NA																	0					NA																																														0							g.chr5:1602656G>A																													5.37:g.1602656G>A		True	False		Somatic	0				RP11-43F13.1_ENST00000507841.1_RNA				WXS	Illumina HiSeq	Phase_I					0	622	+			NA						RNA	SNP	ENST00000605200.1	37																																																																																						0.458	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1	0			5:1602656
SMAD4	4089	broad.mit.edu	37	18	48575671	48575671	+	Nonsense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:48575671C>G	ENST00000342988.3	+	4	969	c.431C>G	c.(430-432)tCa>tGa	p.S144*	SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	144					atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.S144*(5)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TAAGATCTCTCAGGATTAACA	0.294																																						ENST00000342988.3		NA																	45	Whole gene deletion(36)|Substitution - Nonsense(5)|Unknown(4)	p.0?(36)|p.S144*(5)|p.?(4)	pancreas(26)|lung(4)|breast(4)|large_intestine(3)|stomach(3)|upper_aerodigestive_tract(2)|skin(1)|oesophagus(1)|NS(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(430-432)tCa>tGa		SMAD family member 4							182.0	163.0	169.0					18																	48575671		2202	4298	6500	SO:0001587	stop_gained	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48575671C>G	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.431C>G	18.37:g.48575671C>G	ENSP00000341551:p.Ser144*	True	False		Somatic	0				SMAD4_ENST00000588745.1_Nonsense_Mutation_p.S144*|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.S144*|SMAD4_ENST00000452201.2_Nonsense_Mutation_p.S144*|RP11-729L2.2_ENST00000590722.2_3'UTR	p.S144*	NM_005359.5	NP_005350.1	WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	4	969	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	144					A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.431C>G	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	42	9.517242	0.99193	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	.	19.1014	0.93275	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000341551:S144X	S	+	2	0	SMAD4	46829669	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.885000	0.63142	2.810000	0.96702	0.585000	0.79938	TCA		0.294	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48575671
LAMB2	3913	broad.mit.edu	37	3	49166233	49166233	+	Missense_Mutation	SNP	C	C	T	rs544982873		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:49166233C>T	ENST00000418109.1	-	15	1915	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	584	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R584H(1)		NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GGTCACCAGGCGCTCCACCAC	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.0					ENST00000418109.1		NA																	1	Substitution - Missense(1)	p.R584H(1)	ovary(1)	NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(1750-1752)cGc>cAc		laminin, beta 2 (laminin S)							55.0	62.0	60.0					3																	49166233		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49166233C>T		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.1751G>A	3.37:g.49166233C>T	ENSP00000388325:p.Arg584His	False	False		Somatic	0				LAMB2_ENST00000305544.4_Missense_Mutation_p.R584H	p.R584H	NM_002292.3	NP_002283.3	WXS	Illumina HiSeq	Phase_I	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	15	1915	-			584			Laminin IV type B.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.1751G>A	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	35	5.582871	0.96578	.	.	ENSG00000172037	ENST00000418109;ENST00000305544	T;T	0.37058	1.22;1.22	5.04	5.04	0.67666	Laminin IV (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.68334	-0.5436	10	0.49607	T	0.09	.	17.9928	0.89174	0.0:1.0:0.0:0.0	.	584	P55268	LAMB2_HUMAN	H	584	ENSP00000388325:R584H;ENSP00000307156:R584H	ENSP00000307156:R584H	R	-	2	0	LAMB2	49141237	0.997000	0.39634	0.992000	0.48379	0.778000	0.44026	3.609000	0.54117	2.348000	0.79779	0.561000	0.74099	CGC		0.617	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	0	NM_002292		3:49166233
KDM3B	51780	broad.mit.edu	37	5	137756544	137756544	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:137756544G>A	ENST00000314358.5	+	15	4065	c.3865G>A	c.(3865-3867)Gaa>Aaa	p.E1289K	KDM3B_ENST00000394866.1_Missense_Mutation_p.E945K|KDM3B_ENST00000542866.1_Missense_Mutation_p.E321K	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1289					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CAACAAAACCGAAGGGTCTAG	0.547																																						ENST00000314358.5		NA																	0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						c.(3865-3867)Gaa>Aaa		lysine (K)-specific demethylase 3B							80.0	76.0	77.0					5																	137756544		2203	4300	6503	SO:0001583	missense	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137756544G>A	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.3865G>A	5.37:g.137756544G>A	ENSP00000326563:p.Glu1289Lys	False	False		Somatic	0				KDM3B_ENST00000542866.1_Missense_Mutation_p.E321K|KDM3B_ENST00000394866.1_Missense_Mutation_p.E945K	p.E1289K	NM_016604.3	NP_057688	WXS	Illumina HiSeq	Phase_I	Q7LBC6	KDM3B_HUMAN			15	4065	+			1289					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Missense_Mutation	SNP	ENST00000314358.5	37	c.3865G>A	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	G	35	5.563185	0.96527	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	T;T;T	0.73047	-0.16;-0.71;-0.56	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81197	0.4772	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.988	D;P	0.76575	0.988;0.702	T	0.78043	-0.2358	10	0.34782	T	0.22	-5.7754	19.6582	0.95853	0.0:0.0:1.0:0.0	.	945;1289	Q7LBC6-2;Q7LBC6	.;KDM3B_HUMAN	K	1289;1079;945;321	ENSP00000326563:E1289K;ENSP00000378335:E945K;ENSP00000439462:E321K	ENSP00000326563:E1289K	E	+	1	0	KDM3B	137784443	1.000000	0.71417	0.989000	0.46669	0.997000	0.91878	9.219000	0.95173	2.648000	0.89879	0.561000	0.74099	GAA		0.547	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	0	NM_016604		5:137756544
PDZRN3	23024	broad.mit.edu	37	3	73438996	73438996	+	Missense_Mutation	SNP	G	G	A	rs375528245		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:73438996G>A	ENST00000263666.4	-	7	1501	c.1387C>T	c.(1387-1389)Cgc>Tgc	p.R463C	PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185C|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120C	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	463	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTCGGATGCGCCCATCCTTG	0.468																																						ENST00000263666.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1387-1389)Cgc>Tgc		PDZ domain containing ring finger 3		G	CYS/ARG	0,4406		0,0,2203	171.0	131.0	144.0		1387	5.4	1.0	3		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDZRN3	NM_015009.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	463/1067	73438996	1,13005	2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73438996G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1387C>T	3.37:g.73438996G>A	ENSP00000263666:p.Arg463Cys	True	False		Somatic	0				PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000479530.1_Missense_Mutation_p.R180C|PDZRN3_ENST00000535920.1_Missense_Mutation_p.R185C|PDZRN3_ENST00000466780.1_Missense_Mutation_p.R120C|PDZRN3_ENST00000462146.2_Missense_Mutation_p.R120C	p.R463C	NM_015009.1	NP_055824.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	7	1501	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	463			PDZ 2.		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1387C>T	CCDS33789.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443481	0.83993	0.0	1.16E-4	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909	T;T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7;0.7	5.43	5.43	0.79202	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.79919	0.4529	H	0.96142	3.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.999	D	0.86441	0.1767	10	0.87932	D	0	.	18.8532	0.92241	0.0:0.0:1.0:0.0	.	185;180;180;463	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	C	463;185;120;120;180;463;161	ENSP00000263666:R463C;ENSP00000442026:R185C;ENSP00000418168:R120C;ENSP00000418484:R120C;ENSP00000418624:R180C;ENSP00000419250:R161C	ENSP00000263666:R463C	R	-	1	0	PDZRN3	73521686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.496000	0.53288	2.547000	0.85894	0.655000	0.94253	CGC		0.468	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	0	XM_041363		3:73438996
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	C	A	rs11540654|rs587780066	byFrequency	TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:7579358C>A	ENST00000269305.4	-	4	518	c.329G>T	c.(328-330)cGt>cTt	p.R110L	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000420246.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654). {ECO:0000269|PubMed:17224074}.|R -> S (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GAAGCCCAGACGGAAACCGTA	0.612		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		71	Substitution - Missense(47)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(3)|Complex - deletion inframe(2)|Insertion - Frameshift(1)	p.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)	upper_aerodigestive_tract(15)|lung(13)|breast(8)|large_intestine(5)|urinary_tract(5)|liver(4)|bone(4)|soft_tissue(3)|oesophagus(3)|ovary(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|skin(1)|pancreas(1)|autonomic_ganglia(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM984590	TP53	M	rs11540654	c.(328-330)cGt>cTt	Other conserved DNA damage response genes	tumor protein p53							63.0	60.0	61.0					17																	7579358		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579358C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.329G>T	17.37:g.7579358C>A	ENSP00000269305:p.Arg110Leu	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000269305.4_Missense_Mutation_p.R110L|TP53_ENST00000413465.2_Missense_Mutation_p.R110L|TP53_ENST00000445888.2_Missense_Mutation_p.R110L|TP53_ENST00000455263.2_Missense_Mutation_p.R110L|TP53_ENST00000359597.4_Missense_Mutation_p.R110L	p.R110L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	461	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	110		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.329G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	16.33	3.091694	0.55968	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99766	-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69;-6.69	4.75	-0.964	0.10326	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.808524	0.11806	N	0.527643	D	0.99242	0.9736	L	0.52759	1.655	0.09310	N	1	P;P;P;B;B;B;P	0.51537	0.946;0.941;0.459;0.347;0.373;0.362;0.782	P;P;B;B;B;P;B	0.57152	0.523;0.814;0.269;0.211;0.405;0.49;0.337	D	0.99938	1.1378	10	0.66056	D	0.02	-0.2466	4.9119	0.13825	0.0:0.3943:0.154:0.4517	rs11540654;rs11540654	71;110;110;110;110;110;110	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	110	ENSP00000410739:R110L;ENSP00000352610:R110L;ENSP00000269305:R110L;ENSP00000398846:R110L;ENSP00000391127:R110L;ENSP00000391478:R110L;ENSP00000424104:R110L;ENSP00000426252:R110L	ENSP00000269305:R110L	R	-	2	0	TP53	7520083	0.012000	0.17670	0.014000	0.15608	0.952000	0.60782	0.563000	0.23547	-0.185000	0.10550	0.655000	0.94253	CGT		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579358
PCDHGB6	56100	broad.mit.edu	37	5	140788898	140788898	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140788898G>A	ENST00000520790.1	+	1	1129	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	377	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGATTTCGGAGGAAATGG	0.413																																						ENST00000520790.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48						c.(1129-1131)Gga>Aga									52.0	52.0	52.0					5																	140788898		1858	4112	5970	SO:0001583	missense	0							g.chr5:140788898G>A	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1129G>A	5.37:g.140788898G>A	ENSP00000428603:p.Gly377Arg	False	False		Somatic	0				PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.G377R	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1129	+			NA					Q9Y5C5	Missense_Mutation	SNP	ENST00000520790.1	37	c.1129G>A	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	g	15.55	2.867883	0.51588	.	.	ENSG00000253305	ENST00000520790	T	0.27890	1.64	5.37	5.37	0.77165	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58466	0.2124	M	0.92268	3.29	0.30036	N	0.813014	D;D	0.54964	0.969;0.962	P;P	0.51297	0.665;0.534	T	0.67991	-0.5527	9	0.72032	D	0.01	.	18.7185	0.91685	0.0:0.0:1.0:0.0	.	377;377	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	R	377	ENSP00000428603:G377R	ENSP00000428603:G377R	G	+	1	0	PCDHGB6	140769082	0.998000	0.40836	0.106000	0.21319	0.902000	0.53008	3.463000	0.53050	2.509000	0.84616	0.563000	0.77884	GGA		0.413	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	0	NM_018926		5:140788898
CACNA1A	773	broad.mit.edu	37	19	13445253	13445253	+	Silent	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:13445253C>T	ENST00000360228.5	-	8	1136	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L	CACNA1A_ENST00000573710.2_Silent_p.L379L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	379					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGCCGCCTCAGCTTCAGAA	0.517																																						ENST00000360228.5		NA																	0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(1135-1137)ctG>ctA		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						98.0	96.0	96.0					19																	13445253		1889	4107	5996	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13445253C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1137G>A	19.37:g.13445253C>T		False	False		Somatic	0				CACNA1A_ENST00000573710.2_Silent_p.L379L	p.L379L	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	WXS	Illumina HiSeq	Phase_I	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		8	1136	-			379					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.1137G>A	CCDS45998.1																																																																																				0.517	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	0	NM_000068		19:13445253
PDXDC2P	283970	broad.mit.edu	37	16	70055803	70055803	+	RNA	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:70055803G>C	ENST00000531894.1	-	0	1181					NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)										CAGAGGCAGGGCACGGAGTTT	0.403																																						ENST00000531894.1		NA																	0					NA																																														0							g.chr16:70055803G>C			16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70055803G>C		True	False		Somatic	0						NR_003610.1		WXS	Illumina HiSeq	Phase_I					0	1181	-			NA					A8K9Z5	RNA	SNP	ENST00000531894.1	37																																																																																						0.403	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000395258.1	0			16:70055803
SPTBN4	57731	broad.mit.edu	37	19	41063285	41063285	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr19:41063285T>C	ENST00000352632.3	+	26	5732	c.5646T>C	c.(5644-5646)caT>caC	p.H1882H	SPTBN4_ENST00000595535.1_Silent_p.H1882H|SPTBN4_ENST00000598249.1_Silent_p.H1882H|SPTBN4_ENST00000338932.3_Silent_p.H1882H|SPTBN4_ENST00000392025.1_Silent_p.H625H|SPTBN4_ENST00000392023.1_Silent_p.H558H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1882					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTTTGAGCATGACCTGCAGC	0.667																																						ENST00000352632.3		NA																	0				breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73						c.(5644-5646)caT>caC		spectrin, beta, non-erythrocytic 4																																				SO:0001819	synonymous_variant	57731				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	g.chr19:41063285T>C	AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5646T>C	19.37:g.41063285T>C		False	False		Somatic	0				SPTBN4_ENST00000392025.1_Silent_p.H625H|SPTBN4_ENST00000595535.1_Silent_p.H1882H|SPTBN4_ENST00000598249.1_Silent_p.H1882H|SPTBN4_ENST00000338932.3_Silent_p.H1882H|SPTBN4_ENST00000392023.1_Silent_p.H558H	p.H1882H			WXS	Illumina HiSeq	Phase_I	Q9H254	SPTN4_HUMAN	Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)		26	5732	+			1882					E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	ENST00000352632.3	37	c.5646T>C	CCDS12559.1																																																																																				0.667	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462559.2	0			19:41063285
PCDHA4	56144	broad.mit.edu	37	5	140188477	140188477	+	Missense_Mutation	SNP	C	C	T	rs13189658		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:140188477C>T	ENST00000530339.1	+	1	1705	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.R569W|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R569W|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018907.2	NP_061730.1	Q9UN74	PCDA4_HUMAN	protocadherin alpha 4	569					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAGCGCCTCGGGCGGGTGG	0.687																																						ENST00000530339.1		NA																	0				breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78						c.(1705-1707)Cgg>Tgg									74.0	73.0	73.0					5																	140188477		2203	4298	6501	SO:0001583	missense	0							g.chr5:140188477C>T	AF152482	CCDS54916.1	5q31	2010-11-26				ENSG00000204967		"""Cadherins / Protocadherins : Clustered"""	8670	other	complex locus constituent	"""ortholog of mouse CNR1, KIAA0345-like 10"""	606310				10380929, 10662547	Standard	NM_018907		Approved	CNR1, CRNR1, PCDH-ALPHA4, CNRN1		Q9UN74		ENST00000530339.1:c.1705C>T	5.37:g.140188477C>T	ENSP00000435300:p.Arg569Trp	True	False		Somatic	0				PCDHA4_ENST00000356878.4_Missense_Mutation_p.R569W|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.R569W	p.R569W	NM_018907.2	NP_061730.1	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1705	+			NA					O75285|Q2M253	Missense_Mutation	SNP	ENST00000530339.1	37	c.1705C>T	CCDS54916.1	.	.	.	.	.	.	.	.	.	.	c	1.484	-0.556544	0.03967	.	.	ENSG00000204967	ENST00000512229;ENST00000356878;ENST00000530339	T;T;T	0.64085	-0.08;-0.08;-0.08	4.22	2.14	0.27477	Cadherin-like (1);	.	.	.	.	T	0.51686	0.1689	L	0.48877	1.53	0.09310	N	1	B;B;B	0.16166	0.016;0.004;0.003	B;B;B	0.13407	0.009;0.002;0.002	T	0.45338	-0.9268	9	0.46703	T	0.11	.	7.1916	0.25828	0.1772:0.4564:0.3664:0.0	rs13189658;rs13189658	569;569;569	Q9UN74-2;Q9UN74;D6RA20	.;PCDA4_HUMAN;.	W	569	ENSP00000423470:R569W;ENSP00000349344:R569W;ENSP00000435300:R569W	ENSP00000349344:R569W	R	+	1	2	PCDHA4	140168661	0.000000	0.05858	0.051000	0.19133	0.146000	0.21551	-0.186000	0.09670	0.874000	0.35823	0.585000	0.79938	CGG		0.687	PCDHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372864.2	0	NM_018907		5:140188477
WNT7B	7477	broad.mit.edu	37	22	46327243	46327243	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr22:46327243C>T	ENST00000339464.4	-	3	679	c.305G>A	c.(304-306)cGt>cAt	p.R102H	WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	NM_058238.2	NP_478679.1	P56706	WNT7B_HUMAN	wingless-type MMTV integration site family, member 7B	102					activation of JUN kinase activity (GO:0007257)|anatomical structure regression (GO:0060033)|apoptotic process involved in patterning of blood vessels (GO:1902262)|canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular metabolic process (GO:0044237)|cellular response to retinoic acid (GO:0071300)|central nervous system vasculogenesis (GO:0022009)|chorio-allantoic fusion (GO:0060710)|developmental growth involved in morphogenesis (GO:0060560)|embryonic organ development (GO:0048568)|embryonic placenta morphogenesis (GO:0060669)|establishment or maintenance of polarity of embryonic epithelium (GO:0016332)|fibroblast proliferation (GO:0048144)|forebrain regionalization (GO:0021871)|homeostatic process (GO:0042592)|in utero embryonic development (GO:0001701)|inner medullary collecting duct development (GO:0072061)|lens fiber cell development (GO:0070307)|lobar bronchus development (GO:0060482)|lung development (GO:0030324)|lung epithelium development (GO:0060428)|lung morphogenesis (GO:0060425)|lung-associated mesenchyme development (GO:0060484)|mammary gland epithelium development (GO:0061180)|metanephric collecting duct development (GO:0072205)|metanephric epithelium development (GO:0072207)|metanephric loop of Henle development (GO:0072236)|metanephros morphogenesis (GO:0003338)|negative regulation of smoothened signaling pathway (GO:0045879)|neuron differentiation (GO:0030182)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|outer medullary collecting duct development (GO:0072060)|oxygen homeostasis (GO:0032364)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JNK cascade (GO:0046330)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of cell projection size (GO:0032536)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|response to glucocorticoid (GO:0051384)|smooth muscle cell differentiation (GO:0051145)|stem cell proliferation (GO:0072089)|synapse organization (GO:0050808)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)			endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)		GGCAGCCTCACGGCTCCCTGC	0.701																																						ENST00000339464.4		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	19						c.(304-306)cGt>cAt		wingless-type MMTV integration site family, member 7B							18.0	18.0	18.0					22																	46327243		2201	4298	6499	SO:0001583	missense	7477				activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled binding|signal transducer activity	g.chr22:46327243C>T	AF416743	CCDS33667.1	22q13	2013-02-28			ENSG00000188064	ENSG00000188064		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12787	protein-coding gene	gene with protein product		601967				8168088, 9284940, 11562755	Standard	NM_058238		Approved		uc003bgo.2	P56706	OTTHUMG00000154636	ENST00000339464.4:c.305G>A	22.37:g.46327243C>T	ENSP00000341032:p.Arg102His	False	False		Somatic	0				WNT7B_ENST00000410058.1_Missense_Mutation_p.R102H|WNT7B_ENST00000410089.1_Missense_Mutation_p.R86H|WNT7B_ENST00000409496.3_Missense_Mutation_p.R106H	p.R102H	NM_058238.2	NP_478679.1	WXS	Illumina HiSeq	Phase_I	P56706	WNT7B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247)	3	679	-		Ovarian(80;0.00965)|all_neural(38;0.0416)	102					B8A596|Q96Q12	Missense_Mutation	SNP	ENST00000339464.4	37	c.305G>A	CCDS33667.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.061673	0.76187	.	.	ENSG00000188064	ENST00000339464;ENST00000410089;ENST00000409496;ENST00000410058;ENST00000428540	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	3.34	3.34	0.38264	.	0.000000	0.64402	U	0.000001	D	0.91536	0.7327	H	0.95982	3.75	0.51767	D	0.99993	D;D	0.63880	0.977;0.993	P;P	0.62491	0.839;0.903	D	0.94130	0.7387	10	0.87932	D	0	.	13.8568	0.63531	0.0:1.0:0.0:0.0	.	106;102	A8K0G1;P56706	.;WNT7B_HUMAN	H	102;86;106;102;35	ENSP00000341032:R102H;ENSP00000386781:R86H;ENSP00000386546:R106H;ENSP00000387217:R102H;ENSP00000392750:R35H	ENSP00000341032:R102H	R	-	2	0	WNT7B	44705907	1.000000	0.71417	0.860000	0.33809	0.904000	0.53231	4.484000	0.60271	1.709000	0.51313	0.461000	0.40582	CGT		0.701	WNT7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336418.1	0	NM_058238		22:46327243
PRPS1	5631	broad.mit.edu	37	X	106890883	106890883	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chrX:106890883G>A	ENST00000372435.4	+	6	874	c.752G>A	c.(751-753)gGa>gAa	p.G251E	PRPS1_ENST00000372418.1_Missense_Mutation_p.G151E|PRPS1_ENST00000372428.4_Missense_Mutation_p.G184E|PRPS1_ENST00000543248.1_Missense_Mutation_p.G251E	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	251					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|hypoxanthine biosynthetic process (GO:0046101)|nervous system development (GO:0007399)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|pyrimidine nucleotide biosynthetic process (GO:0006221)|ribonucleoside monophosphate biosynthetic process (GO:0009156)|small molecule metabolic process (GO:0044281)|urate biosynthetic process (GO:0034418)	cytosol (GO:0005829)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						TTGACTCATGGAATCTTCTCC	0.443																																						ENST00000372435.4		NA																	0				breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						c.(751-753)gGa>gAa		phosphoribosyl pyrophosphate synthetase 1							155.0	134.0	141.0					X																	106890883		2203	4300	6503	SO:0001583	missense	5631				5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	g.chrX:106890883G>A	X15331	CCDS14529.1, CCDS76007.1	Xq22.3	2014-09-17			ENSG00000147224	ENSG00000147224	2.7.6.1		9462	protein-coding gene	gene with protein product	"""PRS I"", ""ribose-phosphate diphosphokinase 1"""	311850	"""deafness, X-linked 2, perceptive, congenital"""	DFN2		1962753, 20021999	Standard	NM_002764		Approved	CMTX5, DFNX1	uc004ene.4	P60891	OTTHUMG00000022167	ENST00000372435.4:c.752G>A	X.37:g.106890883G>A	ENSP00000361512:p.Gly251Glu	False	False		Somatic	0				PRPS1_ENST00000543248.1_Missense_Mutation_p.G251E|PRPS1_ENST00000372428.4_Missense_Mutation_p.G184E|PRPS1_ENST00000372418.1_Missense_Mutation_p.G151E	p.G251E	NM_002764.3	NP_002755.1	WXS	Illumina HiSeq	Phase_I	P60891	PRPS1_HUMAN			6	874	+			251					B1ALA8|B2R6T7|B4DNL6|D3DUX6|P09329	Missense_Mutation	SNP	ENST00000372435.4	37	c.752G>A	CCDS14529.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953914	0.73902	.	.	ENSG00000147224	ENST00000372435;ENST00000372428;ENST00000543248;ENST00000372418	D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	D	0.94391	0.8196	H	0.98466	4.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96295	0.9217	10	0.72032	D	0.01	.	14.6655	0.68904	0.0:0.0:1.0:0.0	.	251;251	Q53FW2;P60891	.;PRPS1_HUMAN	E	251;184;251;151	ENSP00000361512:G251E;ENSP00000361505:G184E;ENSP00000443185:G251E;ENSP00000361495:G151E	ENSP00000361495:G151E	G	+	2	0	PRPS1	106777539	1.000000	0.71417	0.941000	0.38009	0.678000	0.39670	9.145000	0.94634	2.118000	0.64928	0.600000	0.82982	GGA		0.443	PRPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057840.1	0			X:106890883
SLCO1C1	53919	broad.mit.edu	37	12	20854386	20854386	+	Silent	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:20854386T>C	ENST00000266509.2	+	3	632	c.264T>C	c.(262-264)ttT>ttC	p.F88F	SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000540354.1_Silent_p.F88F|SLCO1C1_ENST00000545604.1_Silent_p.F88F|SLCO1C1_ENST00000381552.1_Silent_p.F88F	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	88					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	ATGGTAGTTTTGAAATTGGTA	0.418																																						ENST00000381552.1		NA																	0				NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(262-264)ttT>ttC		solute carrier organic anion transporter family, member 1C1							126.0	115.0	119.0					12																	20854386		2203	4299	6502	SO:0001819	synonymous_variant	53919				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	g.chr12:20854386T>C	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.264T>C	12.37:g.20854386T>C		True	False		Somatic	0				SLCO1C1_ENST00000545604.1_Silent_p.F88F|SLCO1C1_ENST00000266509.2_Silent_p.F88F|SLCO1C1_ENST00000540354.1_Silent_p.F88F|SLCO1C1_ENST00000545102.1_Intron	p.F88F			WXS	Illumina HiSeq	Phase_I	Q9NYB5	SO1C1_HUMAN			3	632	+	Esophageal squamous(101;0.149)		88					B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Silent	SNP	ENST00000266509.2	37	c.264T>C	CCDS8683.1																																																																																				0.418	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	0	NM_017435		12:20854386
VPS29	51699	broad.mit.edu	37	12	110933972	110933972	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:110933972G>A	ENST00000549578.1	-	2	105	c.40C>T	c.(40-42)Cgg>Tgg	p.R14W	VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.R46W|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.R18W|VPS29_ENST00000551655.1_5'Flank|SNORD50_ENST00000365465.1_RNA|VPS29_ENST00000447578.2_5'UTR	NM_016226.3	NP_057310.1	Q9UBQ0	VPS29_HUMAN	vacuolar protein sorting 29 homolog (S. cerevisiae)	14					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphoserine phosphatase activity (GO:0004647)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTGTTGCACCGGTGTGGGATG	0.398																																						ENST00000549578.1		NA																	0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(40-42)Cgg>Tgg		vacuolar protein sorting 29 homolog (S. cerevisiae)							118.0	106.0	110.0					12																	110933972		1877	4108	5985	SO:0001583	missense	51699				protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity	g.chr12:110933972G>A	AF193795	CCDS41832.1, CCDS53832.1, CCDS73525.1	12q24	2006-12-19	2006-12-19			ENSG00000111237			14340	protein-coding gene	gene with protein product		606932	"""vacuolar protein sorting 29 (yeast homolog)"", ""vacuolar protein sorting 29 (yeast)"""			11062004	Standard	NM_001282151		Approved	PEP11, DC7, DC15	uc001tqx.3	Q9UBQ0	OTTHUMG00000169527	ENST00000549578.1:c.40C>T	12.37:g.110933972G>A	ENSP00000447058:p.Arg14Trp	False	False		Somatic	0				VPS29_ENST00000546588.1_Missense_Mutation_p.R46W|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000360579.7_Missense_Mutation_p.R18W|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000447578.2_5'UTR	p.R14W	NM_016226.3	NP_057310.1	WXS	Illumina HiSeq	Phase_I	Q9UBQ0	VPS29_HUMAN			2	105	-			14					Q502Y5|Q6FIF8|Q6IAH3|Q9H0W0|Q9NRP1|Q9NRU7	Missense_Mutation	SNP	ENST00000549578.1	37	c.40C>T	CCDS41832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.1|27.1	4.801141|4.801141	0.90538|0.90538	.|.	.|.	ENSG00000111237|ENSG00000111237	ENST00000360579|ENST00000549578;ENST00000397678;ENST00000546588	.|T;T	.|0.19250	.|2.16;2.16	5.91|5.91	4.09|4.09	0.47781|0.47781	.|Calcineurin-like phosphoesterase superfamily domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57695|0.57695	0.2071|0.2071	H|H	0.96015|0.96015	3.755|3.755	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.81914	.|0.995;0.99	T|T	0.69068|0.69068	-0.5243|-0.5243	5|10	.|0.87932	.|D	.|0	-7.1853|-7.1853	11.8427|11.8427	0.52364|0.52364	0.0657:0.1233:0.811:0.0|0.0657:0.1233:0.811:0.0	.|.	.|14;18	.|Q9UBQ0;Q9UBQ0-2	.|VPS29_HUMAN;.	L|W	30|14;18;46	.|ENSP00000447058:R14W;ENSP00000449044:R46W	.|ENSP00000380795:R18W	P|R	-|-	2|1	0|2	VPS29|VPS29	109418355|109418355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.756000|9.756000	0.98918|0.98918	0.837000|0.837000	0.34925|0.34925	0.655000|0.655000	0.94253|0.94253	CCG|CGG		0.398	VPS29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404623.1	0			12:110933972
TRIM73	375593	broad.mit.edu	37	7	75028266	75028266	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:75028266C>T	ENST00000437796.1	+	1	68	c.49C>T	c.(49-51)Ccc>Tcc	p.P17S	TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000430211.1_Missense_Mutation_p.P17S|TRIM73_ENST00000323819.3_Missense_Mutation_p.P17S|TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000447409.2_Missense_Mutation_p.P17S			Q86UV7	TRI73_HUMAN	tripartite motif containing 73	17						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GCTTCAGTGTCCCATCTGCCT	0.602																																						ENST00000323819.3		NA																	0				endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(49-51)Ccc>Tcc		tripartite motif containing 73							146.0	142.0	144.0					7																	75028266		2203	4300	6503	SO:0001583	missense	0					intracellular	zinc ion binding	g.chr7:75028266C>T	AF498998	CCDS34665.1	7q11.23	2013-01-09	2011-01-25	2006-03-31		ENSG00000178809		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	18162	protein-coding gene	gene with protein product		612549	"""tripartite motif-containing 50B"", ""tripartite motif-containing 73"""	TRIM50B			Standard	NM_198924		Approved		uc003udc.1	Q86UV7		ENST00000437796.1:c.49C>T	7.37:g.75028266C>T	ENSP00000417040:p.Pro17Ser	True	False		Somatic	0				TRIM73_ENST00000450434.1_Intron|TRIM73_ENST00000437796.1_Missense_Mutation_p.P17S|TRIM73_ENST00000463766.1_3'UTR|TRIM73_ENST00000447409.2_Missense_Mutation_p.P17S|TRIM73_ENST00000430211.1_Missense_Mutation_p.P17S	p.P17S	NM_198924.2	NP_944606.2	WXS	Illumina HiSeq	Phase_I	Q86UV6	TRI74_HUMAN			2	249	+			17					Q8N0S3	Missense_Mutation	SNP	ENST00000437796.1	37	c.49C>T	CCDS34665.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.901498	0.52227	.	.	ENSG00000178809	ENST00000323819;ENST00000430211;ENST00000447409;ENST00000437796	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	2.31	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (2);Zinc finger, RING-type (4);Zinc finger, C3HC4 RING-type (2);	0.000000	0.64402	D	0.000009	D	0.90242	0.6949	L	0.38838	1.175	0.30113	N	0.806419	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86223	0.1632	10	0.56958	D	0.05	.	12.185	0.54234	0.0:1.0:0.0:0.0	.	17;17	Q86UV6;Q86UV7	TRI74_HUMAN;TRI73_HUMAN	S	17	ENSP00000318615:P17S;ENSP00000410121:P17S;ENSP00000407135:P17S;ENSP00000417040:P17S	ENSP00000318615:P17S	P	+	1	0	TRIM73	74866202	0.993000	0.37304	0.999000	0.59377	0.694000	0.40290	1.866000	0.39489	1.612000	0.50221	0.400000	0.26472	CCC		0.602	TRIM73-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000342950.1	0			7:75028266
SLCO1B3	28234	broad.mit.edu	37	12	21011409	21011409	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:21011409G>C	ENST00000381545.3	+	5	482	c.263G>C	c.(262-264)gGa>gCa	p.G88A	LST3_ENST00000381541.3_Missense_Mutation_p.G88A|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G88A|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G88A|LST3_ENST00000540229.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000545880.1_3'UTR	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	88					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)				Atorvastatin(DB01076)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Dabrafenib(DB08912)|Digoxin(DB00390)|Docetaxel(DB01248)|Estradiol(DB00783)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Olmesartan(DB00275)|Ouabain(DB01092)|Paclitaxel(DB01229)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Rosuvastatin(DB01098)|Valsartan(DB00177)	AGTTACTTTGGATCTAAACTA	0.308																																						ENST00000381545.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63						c.(262-264)gGa>gCa		solute carrier organic anion transporter family, member 1B3							172.0	154.0	160.0					12																	21011409		2202	4299	6501	SO:0001583	missense	28234				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21011409G>C		CCDS8684.1	12p12	2013-05-22	2003-11-25	2003-11-26		ENSG00000111700		"""Solute carriers"""	10961	protein-coding gene	gene with protein product		605495	"""solute carrier family 21 (organic anion transporter), member 8"""	SLC21A8			Standard	NM_019844		Approved	OATP8, OATP1B3	uc001rel.4	Q9NPD5	OTTHUMG00000169011	ENST00000381545.3:c.263G>C	12.37:g.21011409G>C	ENSP00000370956:p.Gly88Ala	False	False		Somatic	0				SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G88A|LST3_ENST00000381541.3_Missense_Mutation_p.G88A|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G88A|SLCO1B3_ENST00000545880.1_3'UTR|LST3_ENST00000540229.1_Missense_Mutation_p.G88A|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G88A	p.G88A	NM_019844.3	NP_062818.1	WXS	Illumina HiSeq	Phase_I	Q9NPD5	SO1B3_HUMAN			5	482	+	Esophageal squamous(101;0.149)		88					E7EMT8|Q5JAR4	Missense_Mutation	SNP	ENST00000381545.3	37	c.263G>C	CCDS8684.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186375	0.78789	.	.	ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754	ENST00000540853;ENST00000261196;ENST00000381545;ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957	T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71	3.99	3.99	0.46301	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.93016	3.37	0.54753	D	0.999987	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.83866	0.0271	10	0.87932	D	0	.	16.4451	0.83925	0.0:0.0:1.0:0.0	.	88;88;88	F5H094;Q5JAR4;Q9NPD5	.;.;SO1B3_HUMAN	A	88	ENSP00000442000:G88A;ENSP00000261196:G88A;ENSP00000370956:G88A;ENSP00000451758:G88A;ENSP00000370952:G88A;ENSP00000441269:G88A;ENSP00000452013:G88A	ENSP00000370952:G88A	G	+	2	0	SLCO1B3;SLCO1B7;RP11-545J16.1	20902676	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.314000	0.96306	1.926000	0.55796	0.460000	0.39030	GGA		0.308	SLCO1B3-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401936.1	0	NM_019844		12:21011409
GUSBP1	728411	broad.mit.edu	37	5	21491513	21491513	+	RNA	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:21491513G>A	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										AAACAAAGTCGTGGACAACCA	0.547																																						ENST00000607545.1		NA																	0					NA																																														0							g.chr5:21491513G>A	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491513G>A		False	False		Somatic	0						NR_027026.1		WXS	Illumina HiSeq	Phase_I					0	179	+			NA					A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.547	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	0	NG_008324		5:21491513
UGGT2	55757	broad.mit.edu	37	13	96651510	96651510	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:96651510T>C	ENST00000376747.3	-	6	782	c.712A>G	c.(712-714)Att>Gtt	p.I238V	UGGT2_ENST00000376712.4_Missense_Mutation_p.I238V|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376714.3_Missense_Mutation_p.I238V|UGGT2_ENST00000397618.3_Missense_Mutation_p.I238V	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	238					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTACTCTTAATTGCTAGCTCC	0.348																																						ENST00000376747.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(712-714)Att>Gtt		UDP-glucose glycoprotein glucosyltransferase 2							176.0	168.0	170.0					13																	96651510		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96651510T>C	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.712A>G	13.37:g.96651510T>C	ENSP00000365938:p.Ile238Val	False	False		Somatic	0				UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Missense_Mutation_p.I238V|UGGT2_ENST00000376714.3_Missense_Mutation_p.I238V|UGGT2_ENST00000397618.3_Missense_Mutation_p.I238V	p.I238V	NM_020121.3	NP_064506.3	WXS	Illumina HiSeq	Phase_I	Q9NYU1	UGGG2_HUMAN			6	782	-			238					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.712A>G	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	T	15.99	2.995825	0.54147	.	.	ENSG00000102595	ENST00000376747;ENST00000376722;ENST00000376714;ENST00000397618;ENST00000376712	T;T	0.37584	2.84;1.19	5.12	5.12	0.69794	.	0.097816	0.64402	D	0.000002	T	0.47857	0.1468	M	0.77712	2.385	0.50313	D	0.999861	P;P;P	0.42010	0.681;0.681;0.768	B;B;P	0.45232	0.442;0.442;0.474	T	0.55798	-0.8084	10	0.87932	D	0	-18.197	14.246	0.65988	0.0:0.0:0.0:1.0	.	238;238;238	Q2TAA6;E7EMU6;Q9NYU1	.;.;UGGG2_HUMAN	V	238	ENSP00000365938:I238V;ENSP00000380743:I238V	ENSP00000365902:I238V	I	-	1	0	UGGT2	95449511	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	5.186000	0.65082	2.071000	0.62044	0.397000	0.26171	ATT		0.348	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	0	NM_020121		13:96651510
SERPINB5	5268	broad.mit.edu	37	18	61156680	61156680	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr18:61156680T>C	ENST00000382771.4	+	4	699	c.407T>C	c.(406-408)aTt>aCt	p.I136T	SERPINB5_ENST00000489441.1_Missense_Mutation_p.I136T	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	136					cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelium (GO:0002009)|negative regulation of endopeptidase activity (GO:0010951)|prostate gland morphogenesis (GO:0060512)|regulation of epithelial cell proliferation (GO:0050678)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						AACAACTCAATTAAGGATCTC	0.388																																						ENST00000382771.4		NA																	0				kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						c.(406-408)aTt>aCt		serpin peptidase inhibitor, clade B (ovalbumin), member 5							120.0	113.0	115.0					18																	61156680		2203	4300	6503	SO:0001583	missense	5268				cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61156680T>C	U04313	CCDS32839.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206075	ENSG00000206075		"""Serine (or cysteine) peptidase inhibitors"""	8949	protein-coding gene	gene with protein product	"""protease inhibitor 5 (maspin)"""	154790	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 5"""	PI5		8290962, 7724531, 16720730, 24172014	Standard	NM_002639		Approved	maspin	uc002liz.4	P36952	OTTHUMG00000141307	ENST00000382771.4:c.407T>C	18.37:g.61156680T>C	ENSP00000372221:p.Ile136Thr	False	False		Somatic	0				SERPINB5_ENST00000489441.1_Missense_Mutation_p.I136T	p.I136T	NM_002639.4	NP_002630.2	WXS	Illumina HiSeq	Phase_I	P36952	SPB5_HUMAN			4	699	+			136					B2R6Y4|Q6N0B4|Q8WW89	Missense_Mutation	SNP	ENST00000382771.4	37	c.407T>C	CCDS32839.1	.	.	.	.	.	.	.	.	.	.	T	17.41	3.383613	0.61845	.	.	ENSG00000206075	ENST00000382771	D	0.85088	-1.94	5.75	5.75	0.90469	Serpin domain (3);	0.290065	0.34411	N	0.003991	D	0.87657	0.6232	M	0.72894	2.215	0.42662	D	0.993484	P;P	0.39847	0.531;0.691	B;P	0.44921	0.349;0.464	D	0.89171	0.3537	10	0.87932	D	0	.	16.0154	0.80434	0.0:0.0:0.0:1.0	.	136;136	P36952;P36952-2	SPB5_HUMAN;.	T	136	ENSP00000372221:I136T	ENSP00000372221:I136T	I	+	2	0	SERPINB5	59307660	1.000000	0.71417	0.944000	0.38274	0.984000	0.73092	5.559000	0.67326	2.323000	0.78572	0.533000	0.62120	ATT		0.388	SERPINB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280629.1	0	NM_002639		18:61156680
VTN	7448	broad.mit.edu	37	17	26696428	26696428	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr17:26696428T>C	ENST00000226218.4	-	4	1169	c.551A>G	c.(550-552)gAc>gGc	p.D184G	TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|SARM1_ENST00000457710.3_5'Flank|VTN_ENST00000536498.1_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA|VTN_ENST00000438614.1_5'Flank|CTB-96E2.2_ENST00000555059.2_5'Flank	NM_000638.3	NP_000629.3	P04004	VTNC_HUMAN	vitronectin	184					cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endopeptidase activity (GO:0010951)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein binding (GO:0032092)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of wound healing (GO:0090303)|regulation of complement activation (GO:0030449)|smooth muscle cell-matrix adhesion (GO:0061302)	alphav-beta3 integrin-vitronectin complex (GO:0071062)|blood microparticle (GO:0072562)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Abciximab(DB00054)	TGCCTTTTCGTCCAGTTCATA	0.617																																						ENST00000226218.4		NA																	0				kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13						c.(550-552)gAc>gGc		vitronectin	Urokinase(DB00013)						89.0	77.0	82.0					17																	26696428		2203	4300	6503	SO:0001583	missense	7448				cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity	g.chr17:26696428T>C	BC005046	CCDS11229.1	17q11.2	2014-08-08	2006-02-10		ENSG00000109072	ENSG00000109072		"""Endogenous ligands"""	12724	protein-coding gene	gene with protein product	"""serum spreading factor"", ""somatomedin B"", ""complement S-protein"""	193190	"""vitronectin (serum spreading factor, somatomedin B, complement S-protein)"""			2447940	Standard	NM_000638		Approved	VN	uc002hbc.3	P04004	OTTHUMG00000132500	ENST00000226218.4:c.551A>G	17.37:g.26696428T>C	ENSP00000226218:p.Asp184Gly	False	False		Somatic	0				VTN_ENST00000536498.1_5'UTR|TMEM199_ENST00000509083.1_Intron|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA	p.D184G	NM_000638.3	NP_000629.3	WXS	Illumina HiSeq	Phase_I	P04004	VTNC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	1169	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		184			Hemopexin-like 1.		B2R7G0|P01141|Q9BSH7	Missense_Mutation	SNP	ENST00000226218.4	37	c.551A>G	CCDS11229.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403826	0.83230	.	.	ENSG00000255604	ENST00000226218	T	0.03689	3.84	5.79	5.79	0.91817	Hemopexin/matrixin (2);	0.042633	0.85682	D	0.000000	T	0.19406	0.0466	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00153	-1.1982	10	0.59425	D	0.04	-27.9352	16.1189	0.81329	0.0:0.0:0.0:1.0	.	184	P04004	VTNC_HUMAN	G	184	ENSP00000226218:D184G	ENSP00000226218:D184G	D	-	2	0	AC002094.1	23720555	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	7.649000	0.83500	2.208000	0.71279	0.459000	0.35465	GAC		0.617	VTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255680.2	0	NM_000638		17:26696428
ULK4	54986	broad.mit.edu	37	3	41795926	41795926	+	Missense_Mutation	SNP	C	C	T	rs552490417		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:41795926C>T	ENST00000301831.4	-	22	2710	c.2248G>A	c.(2248-2250)Gca>Aca	p.A750T		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	750					cilium morphogenesis (GO:0060271)|epithelial cilium movement (GO:0003351)|microtubule cytoskeleton organization (GO:0000226)|regulation of JNK cascade (GO:0046328)|regulation of MAPK cascade (GO:0043408)|regulation of neuron migration (GO:2001222)|regulation of neuron projection development (GO:0010975)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein kinase C signaling (GO:0090036)|ventricular system development (GO:0021591)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAGGCTTTTGCTCTAATGCAT	0.358																																						ENST00000301831.4		NA																	0				breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22						c.(2248-2250)Gca>Aca		unc-51 like kinase 4							98.0	94.0	95.0					3																	41795926		1831	4088	5919	SO:0001583	missense	54986						ATP binding|protein serine/threonine kinase activity	g.chr3:41795926C>T	AK000581	CCDS43071.1	3p22.1	2013-07-02	2013-07-02		ENSG00000168038	ENSG00000168038			15784	protein-coding gene	gene with protein product			"""unc-51-like kinase 4 (C. elegans)"""			12477932	Standard	NM_017886		Approved	FLJ20574, REC01035, FAM7C1	uc003ckv.4	Q96C45	OTTHUMG00000156210	ENST00000301831.4:c.2248G>A	3.37:g.41795926C>T	ENSP00000301831:p.Ala750Thr	False	False		Somatic	0					p.A750T	NM_017886.2	NP_060356.2	WXS	Illumina HiSeq	Phase_I	Q96C45	ULK4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.214)	22	2710	-			750					A6NF15|Q8IW79|Q9NWV6|Q9UF96	Missense_Mutation	SNP	ENST00000301831.4	37	c.2248G>A	CCDS43071.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.821567	0.71028	.	.	ENSG00000168038	ENST00000301831	T	0.65178	-0.14	5.3	5.3	0.74995	Armadillo-like helical (1);Armadillo-type fold (2);	0.064020	0.64402	U	0.000010	T	0.76133	0.3945	L	0.55990	1.75	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78321	-0.2249	10	0.87932	D	0	.	17.7079	0.88313	0.0:1.0:0.0:0.0	.	750	Q96C45	ULK4_HUMAN	T	750	ENSP00000301831:A750T	ENSP00000301831:A750T	A	-	1	0	ULK4	41770930	1.000000	0.71417	0.998000	0.56505	0.359000	0.29487	5.711000	0.68400	2.466000	0.83321	0.591000	0.81541	GCA		0.358	ULK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343490.1	0	XM_929989		3:41795926
TACC2	10579	broad.mit.edu	37	10	123844650	123844650	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr10:123844650G>A	ENST00000369005.1	+	4	2975	c.2635G>A	c.(2635-2637)Gtg>Atg	p.V879M	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.V879M|TACC2_ENST00000453444.2_Missense_Mutation_p.V879M|TACC2_ENST00000515603.1_Missense_Mutation_p.V879M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.V879M	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	879					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCATGTACCTGTGGAACCTCA	0.517																																						ENST00000369005.1		NA																	0				NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83						c.(2635-2637)Gtg>Atg		transforming, acidic coiled-coil containing protein 2							86.0	88.0	88.0					10																	123844650		2203	4300	6503	SO:0001583	missense	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123844650G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.2635G>A	10.37:g.123844650G>A	ENSP00000358001:p.Val879Met	False	False		Somatic	0				TACC2_ENST00000453444.2_Missense_Mutation_p.V879M|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.V879M|TACC2_ENST00000334433.3_Missense_Mutation_p.V879M|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.V879M	p.V879M	NM_206862.2	NP_996744.2	WXS	Illumina HiSeq	Phase_I	O95359	TACC2_HUMAN			4	2975	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	879					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	c.2635G>A	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	15.19	2.759507	0.49468	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.03181	4.04;4.02;4.02;4.04;4.02	5.8	-2.53	0.06326	.	2.125170	0.02510	N	0.091432	T	0.03739	0.0106	L	0.29908	0.895	0.09310	N	1	B;B;B	0.26318	0.146;0.146;0.146	B;B;B	0.24974	0.057;0.057;0.057	T	0.45775	-0.9238	10	0.72032	D	0.01	0.0434	6.166	0.20390	0.3965:0.2437:0.3598:0.0	.	879;879;879	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	M	879;879;879;879;879;869	ENSP00000358001:V879M;ENSP00000424467:V879M;ENSP00000427618:V879M;ENSP00000334280:V879M;ENSP00000395048:V879M	ENSP00000334280:V879M	V	+	1	0	TACC2	123834640	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.237000	0.08990	-0.136000	0.11475	0.549000	0.68633	GTG		0.517	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1	0			10:123844650
SPARC	6678	broad.mit.edu	37	5	151045924	151045924	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr5:151045924G>A	ENST00000231061.4	-	8	1045	c.732C>T	c.(730-732)gaC>gaT	p.D244D	SPARC_ENST00000537849.1_5'Flank	NM_003118.3	NP_003109.1	P09486	SPRC_HUMAN	secreted protein, acidic, cysteine-rich (osteonectin)	244					blood coagulation (GO:0007596)|bone development (GO:0060348)|cellular response to growth factor stimulus (GO:0071363)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|inner ear development (GO:0048839)|lung development (GO:0030324)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|ossification (GO:0001503)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of endothelial cell migration (GO:0010595)|regulation of cell morphogenesis (GO:0022604)|response to cadmium ion (GO:0046686)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to gravity (GO:0009629)|response to L-ascorbic acid (GO:0033591)|response to lead ion (GO:0010288)|response to lipopolysaccharide (GO:0032496)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nuclear matrix (GO:0016363)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|platelet alpha granule membrane (GO:0031092)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)	p.D244D(1)		central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)		GGTCTTACCCGTCAATGGGGT	0.572																																						ENST00000231061.4		NA																	1	Substitution - coding silent(1)	p.D244D(1)	large_intestine(1)	central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	15						c.(730-732)gaC>gaT		secreted protein, acidic, cysteine-rich (osteonectin)	Becaplermin(DB00102)						77.0	72.0	74.0					5																	151045924		2203	4300	6503	SO:0001819	synonymous_variant	6678				ossification|platelet activation|platelet degranulation|signal transduction	basement membrane|extracellular space|platelet alpha granule lumen	calcium ion binding|collagen binding	g.chr5:151045924G>A		CCDS4318.1	5q31-q33	2012-10-02			ENSG00000113140	ENSG00000113140			11219	protein-coding gene	gene with protein product	"""cysteine-rich protein"", ""osteonectin"""	182120		ON		2838412, 3410046	Standard	NM_003118		Approved		uc003lui.4	P09486	OTTHUMG00000130122	ENST00000231061.4:c.732C>T	5.37:g.151045924G>A		True	False		Somatic	0					p.D244D	NM_003118.3	NP_003109.1	WXS	Illumina HiSeq	Phase_I	P09486	SPRC_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;0.00118)	8	1045	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.122)	244					D3DQH9|Q6IBK4	Silent	SNP	ENST00000231061.4	37	c.732C>T	CCDS4318.1																																																																																				0.572	SPARC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252430.1	0	NM_003118		5:151045924
WTAP	9589	broad.mit.edu	37	6	160174521	160174521	+	Missense_Mutation	SNP	G	G	A	rs112093927		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:160174521G>A	ENST00000358372.4	+	7	2239	c.482G>A	c.(481-483)tGt>tAt	p.C161Y	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	161					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		ATGGCGAAGTGTCGAATGCTT	0.423																																						ENST00000358372.4		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(481-483)tGt>tAt		Wilms tumor 1 associated protein							126.0	119.0	121.0					6																	160174521		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160174521G>A	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.482G>A	6.37:g.160174521G>A	ENSP00000351141:p.Cys161Tyr	False	False		Somatic	0				SOD2_ENST00000546087.1_Intron	p.C161Y	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	WXS	Illumina HiSeq	Phase_I	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	7	2239	+		Breast(66;0.000776)|Ovarian(120;0.0303)	161					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.482G>A	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.842459	0.91197	.	.	ENSG00000146457	ENST00000358372	T	0.49720	0.77	6.17	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.86028	2.79	0.80722	D	1	B;B	0.18166	0.026;0.008	B;B	0.22601	0.04;0.009	T	0.47142	-0.9140	10	0.52906	T	0.07	0.0359	15.9972	0.80260	0.065:0.0:0.935:0.0	.	161;161	A8K489;Q15007	.;FL2D_HUMAN	Y	161	ENSP00000351141:C161Y	ENSP00000351141:C161Y	C	+	2	0	WTAP	160094511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.986000	0.88173	2.941000	0.99782	0.655000	0.94253	TGT		0.423	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	0	NM_152857		6:160174521
FLRT2	23768	broad.mit.edu	37	14	86089482	86089482	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr14:86089482C>A	ENST00000330753.4	+	2	2391	c.1624C>A	c.(1624-1626)Ctg>Atg	p.L542M	FLRT2_ENST00000554746.1_Missense_Mutation_p.L542M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	542					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCCCCCTTTCTGCTGGCGGG	0.587																																						ENST00000330753.4		NA																	0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1624-1626)Ctg>Atg		fibronectin leucine rich transmembrane protein 2							89.0	92.0	91.0					14																	86089482		2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089482C>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1624C>A	14.37:g.86089482C>A	ENSP00000332879:p.Leu542Met	True	False		Somatic	0				FLRT2_ENST00000554746.1_Missense_Mutation_p.L542M	p.L542M	NM_013231.4	NP_037363.1	WXS	Illumina HiSeq	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2391	+			542					A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1624C>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.613533	0.46631	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.59224	0.28;0.28	6.17	6.17	0.99709	.	0.000000	0.64402	D	0.000001	T	0.70448	0.3225	L	0.47716	1.5	0.52099	D	0.999943	D	0.76494	0.999	D	0.64042	0.921	T	0.63734	-0.6570	10	0.34782	T	0.22	-12.2962	20.8794	0.99867	0.0:1.0:0.0:0.0	.	542	O43155	FLRT2_HUMAN	M	542;542;195	ENSP00000332879:L542M;ENSP00000451050:L542M	ENSP00000332879:L542M	L	+	1	2	FLRT2	85159235	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	3.930000	0.56522	2.941000	0.99782	0.655000	0.94253	CTG		0.587	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	0			14:86089482
ADNP	23394	broad.mit.edu	37	20	49510730	49510730	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr20:49510730T>A	ENST00000396029.3	-	5	1088	c.521A>T	c.(520-522)gAt>gTt	p.D174V	ADNP_ENST00000349014.3_Missense_Mutation_p.D174V|ADNP_ENST00000371602.4_Missense_Mutation_p.D174V|ADNP_ENST00000396032.3_Missense_Mutation_p.D174V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	174					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATAAAGAGGATCTCGGTAAGT	0.398																																						ENST00000396029.3		NA																	0				NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						c.(520-522)gAt>gTt		activity-dependent neuroprotector homeobox							201.0	192.0	195.0					20																	49510730		2203	4300	6503	SO:0001583	missense	23394					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:49510730T>A	AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.521A>T	20.37:g.49510730T>A	ENSP00000379346:p.Asp174Val	False	False		Somatic	0				ADNP_ENST00000371602.4_Missense_Mutation_p.D174V|ADNP_ENST00000349014.3_Missense_Mutation_p.D174V|ADNP_ENST00000396032.3_Missense_Mutation_p.D174V	p.D174V	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	WXS	Illumina HiSeq	Phase_I	Q9H2P0	ADNP_HUMAN			5	1088	-			174					E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	ENST00000396029.3	37	c.521A>T	CCDS13433.1	.	.	.	.	.	.	.	.	.	.	T	17.86	3.491473	0.64074	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	5.87	5.87	0.94306	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.82088	-0.0630	10	0.41790	T	0.15	-7.5506	16.27	0.82612	0.0:0.0:0.0:1.0	.	174	Q9H2P0	ADNP_HUMAN	V	174	ENSP00000360662:D174V;ENSP00000342905:D174V;ENSP00000379346:D174V;ENSP00000379349:D174V	ENSP00000342905:D174V	D	-	2	0	ADNP	48944137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.971000	0.70440	2.248000	0.74166	0.533000	0.62120	GAT		0.398	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079705.2	0	NM_181442		20:49510730
OPCML	4978	broad.mit.edu	37	11	132307162	132307162	+	Silent	SNP	G	G	A	rs143650226		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr11:132307162G>A	ENST00000331898.7	-	4	1196	c.618C>T	c.(616-618)aaC>aaT	p.N206N	OPCML_ENST00000541867.1_Silent_p.N206N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000374778.4_Silent_p.N165N	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	206	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CAGCGACATCGTTCAACGCGC	0.552																																						ENST00000331898.7		NA																	0				endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47						c.(616-618)aaC>aaT		opioid binding protein/cell adhesion molecule-like		G	,	0,4402		0,0,2201	122.0	105.0	111.0		597,618	-6.0	0.6	11	dbSNP_134	111	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,	199/339,206/346	132307162	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	4978				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	g.chr11:132307162G>A	BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.618C>T	11.37:g.132307162G>A		False	False		Somatic	0				OPCML_ENST00000374778.4_Silent_p.N165N|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000524381.1_Silent_p.N199N|OPCML_ENST00000541867.1_Silent_p.N206N	p.N206N	NM_002545.3	NP_002536.1	WXS	Illumina HiSeq	Phase_I	Q14982	OPCM_HUMAN		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)	4	1196	-	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)	206			Ig-like C2-type 2.		B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	c.618C>T	CCDS8492.1																																																																																				0.552	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	0	NM_001012393		11:132307162
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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
GPR115	221393	broad.mit.edu	37	6	47682152	47682152	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:47682152A>T	ENST00000283303.2	+	6	1429	c.1171A>T	c.(1171-1173)Atg>Ttg	p.M391L	GPR115_ENST00000371220.1_Missense_Mutation_p.M448L|GPR115_ENST00000327753.3_Missense_Mutation_p.M391L|RN7SKP116_ENST00000516902.1_RNA	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	391	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TTCCATTCTCATGTCCTCCAA	0.463																																					GBM(22;431 510 9010 26644 32828)	ENST00000283303.2		NA																	0				NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						c.(1171-1173)Atg>Ttg		G protein-coupled receptor 115							151.0	117.0	129.0					6																	47682152		2203	4300	6503	SO:0001583	missense	221393				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:47682152A>T	AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1171A>T	6.37:g.47682152A>T	ENSP00000283303:p.Met391Leu	False	False		Somatic	0				GPR115_ENST00000371220.1_Missense_Mutation_p.M448L|GPR115_ENST00000327753.3_Missense_Mutation_p.M391L	p.M391L	NM_153838.3	NP_722580.3	WXS	Illumina HiSeq	Phase_I	Q8IZF3	GP115_HUMAN			6	1429	+			391			GPS.		B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Missense_Mutation	SNP	ENST00000283303.2	37	c.1171A>T	CCDS4922.2	.	.	.	.	.	.	.	.	.	.	A	19.27	3.795404	0.70452	.	.	ENSG00000153294	ENST00000371220;ENST00000327753;ENST00000283303	T;T;T	0.71579	-0.58;-0.58;-0.58	5.26	5.26	0.73747	GPS domain (2);	0.000000	0.85682	D	0.000000	D	0.85301	0.5665	M	0.92507	3.315	0.44611	D	0.997589	D	0.71674	0.998	D	0.85130	0.997	D	0.89126	0.3506	10	0.87932	D	0	-37.4673	14.6574	0.68844	1.0:0.0:0.0:0.0	.	391	Q8IZF3	GP115_HUMAN	L	448;391;391	ENSP00000360264:M448L;ENSP00000328319:M391L;ENSP00000283303:M391L	ENSP00000283303:M391L	M	+	1	0	GPR115	47790111	1.000000	0.71417	0.916000	0.36221	0.583000	0.36354	7.544000	0.82117	2.117000	0.64856	0.533000	0.62120	ATG		0.463	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040819.2	0	NM_153838		6:47682152
CENPJ	55835	broad.mit.edu	37	13	25480645	25480645	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr13:25480645C>A	ENST00000381884.4	-	7	1716	c.1531G>T	c.(1531-1533)Gat>Tat	p.D511Y	CENPJ_ENST00000545981.1_Missense_Mutation_p.D511Y	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	511					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CAGCCAGTATCGCAAGGTTTT	0.458																																						ENST00000381884.4		NA																	0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1531-1533)Gat>Tat		centromere protein J							78.0	81.0	80.0					13																	25480645		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25480645C>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.1531G>T	13.37:g.25480645C>A	ENSP00000371308:p.Asp511Tyr	False	False		Somatic	0				CENPJ_ENST00000545981.1_Missense_Mutation_p.D511Y	p.D511Y	NM_018451.4	NP_060921.3	WXS	Illumina HiSeq	Phase_I	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	7	1716	-		Lung SC(185;0.0225)|Breast(139;0.0602)	511					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.1531G>T	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741708	0.30865	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.20598	2.06;2.06	5.93	5.09	0.68999	.	0.383824	0.26680	N	0.023049	T	0.40815	0.1132	M	0.68317	2.08	0.09310	N	1	D	0.76494	0.999	P	0.60117	0.869	T	0.31998	-0.9923	10	0.72032	D	0.01	.	13.7989	0.63188	0.0:0.9259:0.0:0.0741	.	511	Q9HC77	CENPJ_HUMAN	Y	511	ENSP00000371308:D511Y;ENSP00000441090:D511Y	ENSP00000371308:D511Y	D	-	1	0	CENPJ	24378645	0.005000	0.15991	0.021000	0.16686	0.032000	0.12392	0.409000	0.21082	1.521000	0.48983	0.655000	0.94253	GAT		0.458	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	0	NM_018451		13:25480645
LINC00969	440993	broad.mit.edu	37	3	195404651	195404651	+	lincRNA	SNP	C	C	G	rs1996904		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:195404651C>G	ENST00000445430.1	+	0	1508									long intergenic non-protein coding RNA 969																		TGTCACGAATCTTGACAAATT	0.418																																						ENST00000445430.1		NA																	0					NA																																														0							g.chr3:195404651C>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195404651C>G		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1508	+			NA						RNA	SNP	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1	0			3:195404651
KIAA1244	57221	broad.mit.edu	37	6	138528250	138528250	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:138528250C>T	ENST00000251691.4	+	3	375	c.209C>T	c.(208-210)gCa>gTa	p.A70V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CATGCTTTGGCAGGGATGCAG	0.443																																						ENST00000251691.4		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(208-210)gCa>gTa		KIAA1244							88.0	75.0	79.0					6																	138528250		2203	4300	6503	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138528250C>T	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.209C>T	6.37:g.138528250C>T	ENSP00000251691:p.Ala70Val	False	False		Somatic	0					p.A70V	NM_020340.4	NP_065073.3	WXS	Illumina HiSeq	Phase_I	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	3	375	+	Breast(32;0.135)		70						Missense_Mutation	SNP	ENST00000251691.4	37	c.209C>T	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035145	0.75617	.	.	ENSG00000112379	ENST00000251691	T	0.18960	2.18	5.58	5.58	0.84498	.	.	.	.	.	T	0.10035	0.0246	N	0.22421	0.69	0.47621	D	0.999476	P	0.42456	0.78	B	0.38106	0.265	T	0.04781	-1.0927	9	0.45353	T	0.12	-5.4118	19.5927	0.95522	0.0:1.0:0.0:0.0	.	70	Q5TH69	BIG3_HUMAN	V	70	ENSP00000251691:A70V	ENSP00000251691:A70V	A	+	2	0	KIAA1244	138569943	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.262000	0.78410	2.618000	0.88619	0.557000	0.71058	GCA		0.443	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	0	NM_020340		6:138528250
SYNJ2	8871	broad.mit.edu	37	6	158490618	158490618	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr6:158490618C>G	ENST00000355585.4	+	14	1928	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.S618C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S618C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	618					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTCACGCTCTCATAGATAC	0.453																																						ENST00000355585.4		NA																	0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1852-1854)tCt>tGt		synaptojanin 2							174.0	149.0	157.0					6																	158490618		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158490618C>G	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.1853C>G	6.37:g.158490618C>G	ENSP00000347792:p.Ser618Cys	False	False		Somatic	0				SYNJ2_ENST00000367121.3_Missense_Mutation_p.S618C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S618C	p.S618C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	WXS	Illumina HiSeq	Phase_I	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	14	1928	+			618					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.1853C>G	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567503	0.86439	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.80738	-1.41;-1.41;-1.41	5.45	5.45	0.79879	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.221665	0.32372	N	0.006187	D	0.86251	0.5888	M	0.82433	2.59	0.80722	D	1	D;P	0.61080	0.989;0.915	D;P	0.62955	0.909;0.792	T	0.79617	-0.1729	10	0.87932	D	0	.	19.3673	0.94469	0.0:1.0:0.0:0.0	.	618;618	O15056;O15056-3	SYNJ2_HUMAN;.	C	618	ENSP00000356089:S618C;ENSP00000356088:S618C;ENSP00000347792:S618C	ENSP00000347792:S618C	S	+	2	0	SYNJ2	158410606	1.000000	0.71417	0.383000	0.26132	0.987000	0.75469	4.966000	0.63715	-2.744000	0.00378	-0.298000	0.09462	TCT		0.453	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2	0			6:158490618
MYO9A	4649	broad.mit.edu	37	15	72208758	72208758	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr15:72208758G>C	ENST00000356056.5	-	19	3110	c.2638C>G	c.(2638-2640)Cat>Gat	p.H880D	MYO9A_ENST00000564571.1_Missense_Mutation_p.H880D|MYO9A_ENST00000444904.1_Missense_Mutation_p.H861D|MYO9A_ENST00000424560.1_Missense_Mutation_p.H880D|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000566885.1_Missense_Mutation_p.H500D	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	880	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGTGTAAATGAAGAAGAGAC	0.353																																						ENST00000356056.5		NA																	0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2638-2640)Cat>Gat		myosin IXA							102.0	105.0	104.0					15																	72208758		2199	4297	6496	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72208758G>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2638C>G	15.37:g.72208758G>C	ENSP00000348349:p.His880Asp	False	False		Somatic	0				MYO9A_ENST00000566885.1_Missense_Mutation_p.H500D|MYO9A_ENST00000564571.1_Missense_Mutation_p.H880D|MYO9A_ENST00000424560.1_Missense_Mutation_p.H880D|MYO9A_ENST00000444904.1_Missense_Mutation_p.H861D|MYO9A_ENST00000563542.1_5'UTR	p.H880D	NM_006901.3	NP_008832.2	WXS	Illumina HiSeq	Phase_I	B2RTY4	MYO9A_HUMAN			19	3110	-			880					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2638C>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845130	0.91197	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	T;T;T	0.71341	-0.56;-0.56;-0.56	5.24	5.24	0.73138	Myosin head, motor domain (1);	.	.	.	.	T	0.77844	0.4191	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.995;0.994	T	0.74228	-0.3733	9	0.30078	T	0.28	.	17.7426	0.88411	0.0:0.0:1.0:0.0	.	861;861;880	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	D	880;880;861;861	ENSP00000348349:H880D;ENSP00000399162:H880D;ENSP00000398250:H861D	ENSP00000261864:H861D	H	-	1	0	MYO9A	69995812	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.112000	0.94314	2.709000	0.92574	0.655000	0.94253	CAT		0.353	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	0	NM_006901		15:72208758
PMS2CL	441194	broad.mit.edu	37	7	6776941	6776941	+	RNA	SNP	A	A	G	rs542282073		TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr7:6776941A>G	ENST00000486256.1	+	0	1068					NR_002217.1		Q68D20	PMS2L_HUMAN	PMS2 C-terminal like pseudogene																		AGCACTTCAGATGCCATCTCT	0.542													A|||	1	0.000199681	0.0	0.0	5008	,	,		16195	0.0		0.0	False		,,,				2504	0.001					ENST00000486256.1		NA																	0					NA																																														0							g.chr7:6776941A>G	BC041364		7p22.1	2010-10-26			ENSG00000187953	ENSG00000187953			30061	pseudogene	pseudogene	"""postmeiotic segregation increased 2 pseudogene 13"""					15256438, 17253626	Standard	NR_002217		Approved	PMS2P13	uc011jxb.1	Q68D20	OTTHUMG00000151857		7.37:g.6776941A>G		False	False		Somatic	0						NR_002217.1		WXS	Illumina HiSeq	Phase_I					0	1068	+			NA					B4DK88|Q764P1	RNA	SNP	ENST00000486256.1	37																																																																																						0.542	PMS2CL-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000324193.1	0	NR_002217		7:6776941
CELSR3	1951	broad.mit.edu	37	3	48680455	48680455	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr3:48680455G>A	ENST00000164024.4	-	29	8631	c.8351C>T	c.(8350-8352)cCa>cTa	p.P2784L	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Missense_Mutation_p.P2789L	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2784					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGACAGGCTGGCATCCAGGC	0.637																																						ENST00000544264.1		NA																	0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83						c.(8365-8367)cCa>cTa		cadherin, EGF LAG seven-pass G-type receptor 3							35.0	38.0	37.0					3																	48680455		2203	4294	6497	SO:0001583	missense	1951				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr3:48680455G>A	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.8351C>T	3.37:g.48680455G>A	ENSP00000164024:p.Pro2784Leu	False	False		Somatic	0				CELSR3_ENST00000164024.4_Missense_Mutation_p.P2784L	p.P2789L			WXS	Illumina HiSeq	Phase_I	Q9NYQ7	CELR3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	30	8646	-			2784					O75092	Missense_Mutation	SNP	ENST00000164024.4	37	c.8366C>T	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	10.49	1.364421	0.24684	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.35973	1.28;1.28	5.67	4.79	0.61399	.	.	.	.	.	T	0.08223	0.0205	N	0.00268	-1.735	0.39506	D	0.96828	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.0;0.001	T	0.33137	-0.9880	9	0.11485	T	0.65	.	6.3622	0.21435	0.192:0.0:0.808:0.0	.	2789;2784;2882	Q9NYQ7-2;Q9NYQ7;Q5Y190	.;CELR3_HUMAN;.	L	2784;2789	ENSP00000164024:P2784L;ENSP00000445694:P2789L	ENSP00000164024:P2784L	P	-	2	0	CELSR3	48655459	0.991000	0.36638	1.000000	0.80357	0.735000	0.41995	5.747000	0.68689	2.686000	0.91538	0.561000	0.74099	CCA		0.637	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	0	NM_001407		3:48680455
ZNF513	130557	broad.mit.edu	37	2	27601875	27601875	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr2:27601875G>A	ENST00000323703.6	-	3	456	c.258C>T	c.(256-258)gaC>gaT	p.D86D	ZNF513_ENST00000407879.1_Silent_p.D24D|ZNF513_ENST00000491924.1_5'Flank	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	86	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGACTCATCGTCGCTCAGCC	0.622																																						ENST00000323703.6		NA																	0				endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17						c.(256-258)gaC>gaT		zinc finger protein 513							18.0	21.0	20.0					2																	27601875		2072	4068	6140	SO:0001819	synonymous_variant	130557				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr2:27601875G>A	AL833946	CCDS1751.1, CCDS56114.1	2p23.3	2014-01-28			ENSG00000163795	ENSG00000163795		"""Zinc fingers, C2H2-type"""	26498	protein-coding gene	gene with protein product		613598				12477932	Standard	NM_001201459		Approved	FLJ32203, RP58	uc002rkk.3	Q8N8E2	OTTHUMG00000097783	ENST00000323703.6:c.258C>T	2.37:g.27601875G>A		False	False		Somatic	0				ZNF513_ENST00000407879.1_Silent_p.D24D	p.D86D	NM_144631.5	NP_653232.3	WXS	Illumina HiSeq	Phase_I	Q8N8E2	ZN513_HUMAN			3	456	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		86			Gly-rich.		A8K3S5|B7WP71|Q3ZCU1|Q68CJ1|Q86UZ3|Q8NDL8|Q96ML3	Silent	SNP	ENST00000323703.6	37	c.258C>T	CCDS1751.1																																																																																				0.622	ZNF513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215026.2	0	NM_144631		2:27601875
IGFALS	3483	broad.mit.edu	37	16	1842049	1842049	+	Silent	SNP	G	G	A			TCGA-IB-7644-01A-11D-2154-08	TCGA-IB-7644-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	c574c0a2-c4ac-4f49-a776-2dc79e6de2d4	7596f60b-cd8b-4848-84ca-bab2c65c74d5	g.chr16:1842049G>A	ENST00000215539.3	-	2	480	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000415638.3_Silent_p.L162L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	124					cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin-like growth factor binding (GO:0005520)			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGTGGCACAGGTTCTCTAGG	0.692																																						ENST00000415638.3		NA																	0				endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						c.(484-486)Ctg>Ttg		insulin-like growth factor binding protein, acid labile subunit							20.0	19.0	19.0					16																	1842049		2185	4295	6480	SO:0001819	synonymous_variant	3483				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding	g.chr16:1842049G>A	M86826	CCDS10446.1, CCDS53982.1	16p13.3	2008-07-28			ENSG00000099769	ENSG00000099769			5468	protein-coding gene	gene with protein product		601489				1379671, 16114275	Standard	NM_004970		Approved	ALS	uc010uvn.2	P35858	OTTHUMG00000128638	ENST00000215539.3:c.370C>T	16.37:g.1842049G>A		False	False		Somatic	0				IGFALS_ENST00000568221.1_3'UTR|IGFALS_ENST00000215539.3_Silent_p.L124L	p.L162L	NM_001146006.1|NM_004970.2	NP_001139478.1|NP_004961.1	WXS	Illumina HiSeq	Phase_I	P35858	ALS_HUMAN			2	563	-			124					B4DZY8|E9PGU3	Silent	SNP	ENST00000215539.3	37	c.484C>T	CCDS10446.1																																																																																				0.692	IGFALS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250509.2	0			16:1842049
