#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
TRMT13	54482	broad.mit.edu	37	1	100606539	100606540	+	Frame_Shift_Ins	INS	-	-	AAGATTATTTTATAAACTAGAGTAAACACATTTGG	rs201445065		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:100606539_100606540insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	ENST00000370141.2	+	7	639_640	c.633_634insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	c.(634-636)ttcfs	p.F212fs		NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	212					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AAAAAGTTCACTTCATCCTAGT	0.366																																						ENST00000370141.2		NA																	0					NA						c.(634-636)ttcfs		tRNA methyltransferase 13 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	54482							g.chr1:100606539_100606540insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	Exception_encountered	1.37:g.100606539_100606540insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	ENSP00000359160:p.Phe212fs	False	False		Somatic	0					p.F212fs	NM_019083.2	NP_061956.2	WXS	Illumina HiSeq	Phase_I					7	639_640	+			NA					Q5VVL0|Q9NW65	Frame_Shift_Ins	INS	ENST00000370141.2	37	c.633_634insAAGATTATTTTATAAACTAGAGTAAACACATTTGG	CCDS765.1																																																																																				0.366	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	0	NM_019083		1:100606539
R3HCC1L	27291	broad.mit.edu	37	10	99968767	99968768	+	Frame_Shift_Ins	INS	-	-	GACAGAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:99968767_99968768insGACAGAA	ENST00000298999.3	+	5	1199_1200	c.896_897insGACAGAA	c.(895-900)atcttafs	p.I299fs	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Frame_Shift_Ins_p.I299fs|R3HCC1L_ENST00000370586.2_Intron	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	299							nucleotide binding (GO:0000166)										ACAGGTTTCATCTTAGATCAAA	0.396																																						ENST00000298999.3		NA																	0					NA						c.(895-900)atcttafs		R3H domain and coiled-coil containing 1-like																																				SO:0001589	frameshift_variant	27291							g.chr10:99968767_99968768insGACAGAA	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	Exception_encountered	10.37:g.99968767_99968768insGACAGAA	ENSP00000298999:p.Ile299fs	False	False		Somatic	0				R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Frame_Shift_Ins_p.I299fs	p.I299fs	NM_014472.4	NP_055287.4	WXS	Illumina HiSeq	Phase_I					5	1199_1200	+			NA					O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Frame_Shift_Ins	INS	ENST00000298999.3	37	c.896_897insGACAGAA	CCDS31267.1																																																																																				0.396	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	0	NM_014472		10:99968767
MUC2	4583	broad.mit.edu	37	11	1095329	1095330	+	Frame_Shift_Ins	INS	-	-	AGAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:1095329_1095330insAGAT	ENST00000441003.2	+	32	6176_6177	c.6149_6150insAGAT	c.(6148-6153)tgcccafs	p.C2050fs	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Frame_Shift_Ins_p.C188fs	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4412					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCCCCGAGTGCCCAGACTTTG	0.683																																						ENST00000441003.2		NA																	0				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102						c.(6148-6153)tgcccafs		mucin 2, oligomeric mucus/gel-forming	Pranlukast(DB01411)																																			SO:0001589	frameshift_variant	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1095329_1095330insAGAT	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	Exception_encountered	11.37:g.1095329_1095330insAGAT	ENSP00000415183:p.Cys2050fs	True	False		Somatic	0				MUC2_ENST00000361558.6_Frame_Shift_Ins_p.C188fs|MUC2_ENST00000333592.6_3'UTR	p.C2050fs	NM_002457.2	NP_002448.2	WXS	Illumina HiSeq	Phase_I	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	32	6176_6177	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	4412					Q14878	Frame_Shift_Ins	INS	ENST00000441003.2	37	c.6149_6150insAGAT																																																																																					0.683	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	0	NM_002457		11:1095329
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_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_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_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
SIK3	23387	broad.mit.edu	37	11	116827701	116827702	+	In_Frame_Ins	INS	-	-	GTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:116827701_116827702insGTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	ENST00000292055.4	-	2	213_214	c.178_179insGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCAC	c.(178-180)aag>aGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCACag	p.60_60K>RRVGKIAGLT*KQKKSQ	SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000375300.1_In_Frame_Ins_p.118_118K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000542607.1_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000446921.2_In_Frame_Ins_p.118_118K>RRVGKIAGLT*KQKKSQ	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GCAAAGCATCTTCATAATTTGA	0.411																																						ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(352-354)aag>aGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCACag		SIK family kinase 3																																				SO:0001652	inframe_insertion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116827701_116827702insGTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.178_179insGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCAC	11.37:g.116827701_116827702insGTGACTTTTTTTGTTTCTATGTTAATCCTGCTATCTTTCCTACCCTTC	ENSP00000292055:p.Lys60delinsArgArgValGlyLysIleAlaGlyLeuThr*LysGlnLysLysSerGln	False	False		Somatic	0				SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000375288.1_5'UTR|SIK3_ENST00000542607.1_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000375300.1_In_Frame_Ins_p.118_118K>RRVGKIAGLT*KQKKSQ|SIK3_ENST00000292055.4_In_Frame_Ins_p.60_60K>RRVGKIAGLT*KQKKSQ	p.118_118K>RRVGKIAGLT*KQKKSQ			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			2	373_374	-			60			Protein kinase.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Ins	INS	ENST00000292055.4	37	c.352_353insGAAGGGTAGGAAAGATAGCAGGATTAACATAGAAACAAAAAAAGTCAC	CCDS8379.1																																																																																				0.411	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116827701
FGFR1OP2	26127	broad.mit.edu	37	12	27116378	27116379	+	In_Frame_Ins	INS	-	-	CTTACATTG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:27116378_27116379insCTTACATTG	ENST00000229395.3	+	6	956_957	c.614_615insCTTACATTG	c.(613-618)tttcaa>ttCTTACATTGtcaa	p.205_206FQ>FLHCQ	FGFR1OP2_ENST00000327214.5_In_Frame_Ins_p.167_168FQ>FLHCQ	NM_015633.2	NP_056448.1	Q9NVK5	FGOP2_HUMAN	FGFR1 oncogene partner 2	205					wound healing (GO:0042060)	cytosol (GO:0005829)				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8	Colorectal(261;0.0847)					GAACGAATATTTCAACTTGAAG	0.337																																						ENST00000327214.5		NA																	0				cervix(1)|large_intestine(4)|lung(1)|prostate(2)	8						c.(499-504)tttcaa>ttCTTACATTGtcaa		FGFR1 oncogene partner 2																																				SO:0001652	inframe_insertion	26127					cytoplasm		g.chr12:27116378_27116379insCTTACATTG	AF161472	CCDS8709.1, CCDS53766.1, CCDS53767.1	12p12.1	2014-01-28			ENSG00000111790	ENSG00000111790			23098	protein-coding gene	gene with protein product		608858				15034873	Standard	NM_015633		Approved	DKFZp564O1863	uc001rhm.3	Q9NVK5		Exception_encountered	12.37:g.27116378_27116379insCTTACATTG	ENSP00000229395:p.Phe205_Gln206insLeuHisCys	True	False		Somatic	0				FGFR1OP2_ENST00000229395.3_In_Frame_Ins_p.205_206FQ>FLHCQ	p.167_168FQ>FLHCQ	NM_001171887.1	NP_001165358.1	WXS	Illumina HiSeq	Phase_I	Q9NVK5	FGOP2_HUMAN			5	725_726	+	Colorectal(261;0.0847)		205					Q6R955|Q8N5L7|Q9P034|Q9UFK8	In_Frame_Ins	INS	ENST00000229395.3	37	c.500_501insCTTACATTG	CCDS8709.1																																																																																				0.337	FGFR1OP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402961.1	0	NM_015633		12:27116378
ARID2	196528	broad.mit.edu	37	12	46246351	46246352	+	Frame_Shift_Ins	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46246351_46246352insG	ENST00000334344.6	+	15	4617_4618	c.4445_4446insG	c.(4444-4449)caaatcfs	p.I1483fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1483					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CAGGGACATCAAATCATAGCAG	0.446			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6		NA		Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4444-4449)caaatcfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246351_46246352insG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	Exception_encountered	12.37:g.46246351_46246352insG	ENSP00000335044:p.Ile1483fs	True	False		Somatic	0				ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs	p.I1483fs	NM_152641.2	NP_689854.2	WXS	Illumina HiSeq	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4617_4618	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1483					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.4445_4446insG	CCDS31783.1																																																																																				0.446	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	0	XM_350875		12:46246351
ARID2	196528	broad.mit.edu	37	12	46246353	46246354	+	Frame_Shift_Ins	INS	-	-	ATTCTTTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:46246353_46246354insATTCTTTC	ENST00000334344.6	+	15	4619_4620	c.4447_4448insATTCTTTC	c.(4447-4449)atcfs	p.I1483fs	ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1483					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGGACATCAAATCATAGCAGTT	0.45			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6		NA		Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(4447-4449)atcfs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46246353_46246354insATTCTTTC		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	Exception_encountered	12.37:g.46246353_46246354insATTCTTTC	ENSP00000335044:p.Ile1483fs	True	False		Somatic	0				ARID2_ENST00000444670.1_Frame_Shift_Ins_p.I1093fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Frame_Shift_Ins_p.I91fs|ARID2_ENST00000422737.1_Frame_Shift_Ins_p.I1334fs	p.I1483fs	NM_152641.2	NP_689854.2	WXS	Illumina HiSeq	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	15	4619_4620	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1483					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Ins	INS	ENST00000334344.6	37	c.4447_4448insATTCTTTC	CCDS31783.1																																																																																				0.450	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	0	XM_350875		12:46246353
TMPRSS12	283471	broad.mit.edu	37	12	51279203	51279204	+	Intron	INS	-	-	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:51279203_51279204insG	ENST00000398458.3	+	4	827				TMPRSS12_ENST00000551456.1_Frame_Shift_Ins_p.FL276fs	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12							integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TTAAAATATTTTCTGAAGCCAG	0.342																																						ENST00000551456.1		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(826-831)tttctgfs		transmembrane (C-terminal) protease, serine 12																																				SO:0001627	intron_variant	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279203_51279204insG	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.795+32->G	12.37:g.51279203_51279204insG		True	False		Somatic	0				TMPRSS12_ENST00000398458.3_Intron	p.FL276fs			WXS	Illumina HiSeq	Phase_I	Q86WS5	TMPSC_HUMAN			4	872_873	+			275			Peptidase S1.		B9ZVX2	Frame_Shift_Ins	INS	ENST00000398458.3	37	c.827_828insG	CCDS44881.1																																																																																				0.342	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	0	NM_182559		12:51279203
TMPRSS12	283471	broad.mit.edu	37	12	51279204	51279205	+	Intron	INS	-	-	AGCGTTAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:51279204_51279205insAGCGTTAC	ENST00000398458.3	+	4	827				TMPRSS12_ENST00000551456.1_Frame_Shift_Ins_p.L277fs	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12							integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						TAAAATATTTTCTGAAGCCAGA	0.342																																						ENST00000551456.1		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						c.(829-831)ctgfs		transmembrane (C-terminal) protease, serine 12																																				SO:0001627	intron_variant	283471				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr12:51279204_51279205insAGCGTTAC	BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.795+33->AGCGTTAC	12.37:g.51279204_51279205insAGCGTTAC		True	False		Somatic	0				TMPRSS12_ENST00000398458.3_Intron	p.L277fs			WXS	Illumina HiSeq	Phase_I	Q86WS5	TMPSC_HUMAN			4	873_874	+			276			Peptidase S1.		B9ZVX2	Frame_Shift_Ins	INS	ENST00000398458.3	37	c.828_829insAGCGTTAC	CCDS44881.1																																																																																				0.342	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404289.1	0	NM_182559		12:51279204
LEMD3	23592	broad.mit.edu	37	12	65639545	65639546	+	In_Frame_Ins	INS	-	-	CAACAACCA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:65639545_65639546insCAACAACCA	ENST00000308330.2	+	11	2510_2511	c.2484_2485insCAACAACCA	c.(2485-2487)tca>CAACAACCAtca	p.828_829insQQP		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	828	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of cell cycle (GO:0051726)|skeletal muscle cell differentiation (GO:0035914)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TAGACAAAAATTCACGTGAGGT	0.322																																						ENST00000308330.2		NA																	0				breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36						c.(2485-2487)tca>CAACAACCAtca		LEM domain containing 3																																				SO:0001652	inframe_insertion	23592				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding	g.chr12:65639545_65639546insCAACAACCA	AF263918	CCDS8972.1	12q14	2008-02-05			ENSG00000174106	ENSG00000174106			28887	protein-coding gene	gene with protein product		607844				10671519, 15489854	Standard	NM_014319		Approved	MAN1	uc001ssl.2	Q9Y2U8	OTTHUMG00000168840	Exception_encountered	12.37:g.65639545_65639546insCAACAACCA	ENSP00000308369:p.Asn828_Ser829insGlnGlnPro	False	False		Somatic	0					p.828_829insQQP	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	WXS	Illumina HiSeq	Phase_I	Q9Y2U8	MAN1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)	11	2510_2511	+			828			Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.		Q9NT47|Q9NYA5	In_Frame_Ins	INS	ENST00000308330.2	37	c.2484_2485insCAACAACCA	CCDS8972.1																																																																																				0.322	LEMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401312.2	0			12:65639545
NAA25	80018	broad.mit.edu	37	12	112506776	112506777	+	Frame_Shift_Ins	INS	-	-	TTGATAAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:112506776_112506777insTTGATAAT	ENST00000261745.4	-	11	1304_1305	c.1056_1057insATTATCAA	c.(1054-1059)atgttcfs	p.F353fs	Y_RNA_ENST00000363818.1_RNA	NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	353						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAATACTGGAACATTAATTCTT	0.347																																						ENST00000261745.4		NA																	0				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						c.(1054-1059)atgttcfs		N(alpha)-acetyltransferase 25, NatB auxiliary subunit																																				SO:0001589	frameshift_variant	80018					cytoplasm	protein binding	g.chr12:112506776_112506777insTTGATAAT	AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1056_1057insATTATCAA	12.37:g.112506776_112506777insTTGATAAT	ENSP00000261745:p.Phe353fs	False	False		Somatic	0					p.F353fs	NM_024953.3	NP_079229.2	WXS	Illumina HiSeq	Phase_I	Q14CX7	NAA25_HUMAN			11	1304_1305	-			353					A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Frame_Shift_Ins	INS	ENST00000261745.4	37	c.1056_1057insATTATCAA	CCDS9159.1																																																																																				0.347	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405205.1	0	NM_024953		12:112506776
NAA16	79612	broad.mit.edu	37	13	41932599	41932600	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:41932599_41932600insTC	ENST00000379406.3	+	11	1571_1572	c.1247_1248insTC	c.(1246-1251)aaaattfs	p.KI416fs	NAA16_ENST00000403412.3_Frame_Shift_Ins_p.KI416fs|NAA16_ENST00000379367.3_Frame_Shift_Ins_p.KI416fs	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						ATGAAAGCAAAAATTTACAAGG	0.312																																						ENST00000379406.3		NA																	1	Substitution - Missense(1)	p.K416N(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1246-1251)aaaattfs		N(alpha)-acetyltransferase 16, NatA auxiliary subunit																																				SO:0001589	frameshift_variant	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41932599_41932600insTC	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	Exception_encountered	13.37:g.41932599_41932600insTC	ENSP00000368716:p.Lys416fs	True	False		Somatic	0				NAA16_ENST00000403412.3_Frame_Shift_Ins_p.KI416fs|NAA16_ENST00000379367.3_Frame_Shift_Ins_p.KI416fs	p.KI416fs	NM_024561.4	NP_078837.3	WXS	Illumina HiSeq	Phase_I	Q6N069	NAA16_HUMAN			11	1571_1572	+			416					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Frame_Shift_Ins	INS	ENST00000379406.3	37	c.1247_1248insTC	CCDS9379.1																																																																																				0.312	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	0	NM_018527		13:41932599
NAA16	79612	broad.mit.edu	37	13	41932600	41932601	+	In_Frame_Ins	INS	-	-	CAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:41932600_41932601insCAT	ENST00000379406.3	+	11	1572_1573	c.1248_1249insCAT	c.(1249-1251)att>CATatt	p.416_417insH	NAA16_ENST00000403412.3_In_Frame_Ins_p.416_417insH|NAA16_ENST00000379367.3_In_Frame_Ins_p.416_417insH	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	416					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)	p.K416N(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGAAAGCAAAAATTTACAAGGT	0.312																																						ENST00000379406.3		NA																	1	Substitution - Missense(1)	p.K416N(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						c.(1249-1251)att>CATatt		N(alpha)-acetyltransferase 16, NatA auxiliary subunit																																				SO:0001652	inframe_insertion	79612				N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	g.chr13:41932600_41932601insCAT	AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	Exception_encountered	13.37:g.41932600_41932601insCAT	ENSP00000368716:p.Lys416_Ile417insHis	True	False		Somatic	0				NAA16_ENST00000403412.3_In_Frame_Ins_p.416_417insH|NAA16_ENST00000379367.3_In_Frame_Ins_p.416_417insH	p.416_417insH	NM_024561.4	NP_078837.3	WXS	Illumina HiSeq	Phase_I	Q6N069	NAA16_HUMAN			11	1572_1573	+			416					B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	In_Frame_Ins	INS	ENST00000379406.3	37	c.1248_1249insCAT	CCDS9379.1																																																																																				0.312	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044672.2	0	NM_018527		13:41932600
UGGT2	55757	broad.mit.edu	37	13	96547518	96547519	+	In_Frame_Ins	INS	-	-	GGTATAATAAAAGACATATAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:96547518_96547519insGGTATAATAAAAGACATATAT	ENST00000376747.3	-	23	2744_2745	c.2674_2675insATATATGTCTTTTATTATACC	c.(2674-2676)ttt>tATATATGTCTTTTATTATACCtt	p.892_892F>YICLLLYL		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	892					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						CAACAAGTAAAAATCTTCTGCA	0.262																																						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.(2674-2676)ttt>tATATATGTCTTTTATTATACCtt		UDP-glucose glycoprotein glucosyltransferase 2																																				SO:0001652	inframe_insertion	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.chr13:96547518_96547519insGGTATAATAAAAGACATATAT	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.2674_2675insATATATGTCTTTTATTATACC	13.37:g.96547518_96547519insGGTATAATAAAAGACATATAT	ENSP00000365938:p.Phe892delinsTyrIleCysLeuLeuLeuTyrLeu	True	False		Somatic	0					p.892_892F>YICLLLYL	NM_020121.3	NP_064506.3	WXS	Illumina HiSeq	Phase_I	Q9NYU1	UGGG2_HUMAN			23	2744_2745	-			892					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	In_Frame_Ins	INS	ENST00000376747.3	37	c.2674_2675insATATATGTCTTTTATTATACC	CCDS9480.1																																																																																				0.262	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	0	NM_020121		13:96547518
PNN	5411	broad.mit.edu	37	14	39648438	39648439	+	Frame_Shift_Ins	INS	-	-	TAGC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:39648438_39648439insTAGC	ENST00000216832.4	+	7	709_710	c.642_643insTAGC	c.(643-645)cttfs	p.L215fs	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	215	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGAAAGTTGAGCTTGCGCAGCT	0.416																																						ENST00000216832.4		NA																	0				breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27						c.(643-645)cttfs		pinin, desmosome associated protein																																				SO:0001589	frameshift_variant	5411				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity	g.chr14:39648438_39648439insTAGC	U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	Exception_encountered	14.37:g.39648438_39648439insTAGC	ENSP00000216832:p.Leu215fs	False	False		Somatic	0				PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	p.L215fs	NM_002687.3	NP_002678.2	WXS	Illumina HiSeq	Phase_I	Q9H307	PININ_HUMAN	LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)	7	709_710	+	Hepatocellular(127;0.213)		215			Glu-rich.|Necessary for interaction with RNPS1.		B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	Frame_Shift_Ins	INS	ENST00000216832.4	37	c.642_643insTAGC	CCDS9671.1																																																																																				0.416	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276776.2	0	NM_002687		14:39648438
KIAA0586	9786	broad.mit.edu	37	14	58934617	58934618	+	Frame_Shift_Ins	INS	-	-	GAAAAGTCTAATAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:58934617_58934618insGAAAAGTCTAATAT	ENST00000556134.1	+	17	2648_2649	c.2374_2375insGAAAAGTCTAATAT	c.(2374-2376)gatfs	p.D792fs	KIAA0586_ENST00000423743.3_Frame_Shift_Ins_p.D763fs|KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	792					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAAAAAAAGGATCCTCCTCAG	0.361																																						ENST00000423743.3		NA																	0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2287-2289)gatfs		KIAA0586																																				SO:0001589	frameshift_variant	9786							g.chr14:58934617_58934618insGAAAAGTCTAATAT	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	Exception_encountered	14.37:g.58934617_58934618insGAAAAGTCTAATAT	ENSP00000452351:p.Asp792fs	False	False		Somatic	0				KIAA0586_ENST00000354386.6_Frame_Shift_Ins_p.D860fs|KIAA0586_ENST00000261244.5_Frame_Shift_Ins_p.D731fs|KIAA0586_ENST00000556134.1_Frame_Shift_Ins_p.D792fs|KIAA0586_ENST00000538571.2_3'UTR	p.D763fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	WXS	Illumina HiSeq	Phase_I	E9PGW8	E9PGW8_HUMAN			17	2545_2546	+			731					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Frame_Shift_Ins	INS	ENST00000556134.1	37	c.2287_2288insGAAAAGTCTAATAT	CCDS58321.1																																																																																				0.361	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	0	NM_014749		14:58934617
AREL1	9870	broad.mit.edu	37	14	75143319	75143320	+	Frame_Shift_Ins	INS	-	-	GACAATAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:75143319_75143320insGACAATAC	ENST00000356357.4	-	6	1132_1133	c.617_618insGTATTGTC	c.(616-618)agafs	p.-206fs	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1	O15033	AREL1_HUMAN	apoptosis resistant E3 ubiquitin protein ligase 1						apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TGTGCTCATCTCTCAAGGACAT	0.455																																						ENST00000356357.4		NA																	0					NA						c.(616-618)agafs		apoptosis resistant E3 ubiquitin protein ligase 1																																				SO:0001589	frameshift_variant	9870							g.chr14:75143319_75143320insGACAATAC	AB002315	CCDS41971.1	14q24.2	2013-04-15	2013-04-15	2013-04-15	ENSG00000119682	ENSG00000119682			20363	protein-coding gene	gene with protein product		615380	"""KIAA0317"""	KIAA0317		9205841, 23479728	Standard	XM_006720344		Approved		uc001xqb.3	O15033	OTTHUMG00000154499	ENST00000356357.4:c.617_618insGTATTGTC	14.37:g.75143319_75143320insGACAATAC	ENSP00000348714:p.Arg206fs	True	False		Somatic	0				AREL1_ENST00000557401.1_5'UTR	p.-206fs	NM_001039479.1	NP_001034568.1	WXS	Illumina HiSeq	Phase_I					6	1132_1133	-			NA					B4E2C7|Q7LDY1|Q8IYY9	Frame_Shift_Ins	INS	ENST00000356357.4	37	c.617_618insGTATTGTC	CCDS41971.1																																																																																				0.455	AREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335517.2	0	NM_014821		14:75143319
ATG2B	55102	broad.mit.edu	37	14	96808038	96808039	+	Splice_Site	INS	-	-	TGTAGTAAAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr14:96808038_96808039insTGTAGTAAAA	ENST00000359933.4	-	6	1638	c.745_745insTTTTACTACA	c.(745-747)gaa>TTTTACTACAgaa	p.E249fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	249					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCTCAGTTTCCTACAATAAAG	0.307																																						ENST00000359933.4		NA																	0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(745-747)gaa>TTTTACTACAgaa		autophagy related 2B																																				SO:0001630	splice_region_variant	55102							g.chr14:96808038_96808039insTGTAGTAAAA	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.745-1->TTTTACTACA	14.37:g.96808038_96808039insTGTAGTAAAA		False	False		Somatic	0					p.E249fs	NM_018036.5	NP_060506.5	WXS	Illumina HiSeq	Phase_I	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	6	1638	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	249					Q6ZRE7|Q96DQ3|Q9NW80	Splice_Site	INS	ENST00000359933.4	37	c.745_745insTTTTACTACA	CCDS9944.2																																																																																				0.307	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	0	NM_018036	Frame_Shift_Ins	14:96808038
SECISBP2L	9728	broad.mit.edu	37	15	49293210	49293211	+	Frame_Shift_Ins	INS	-	-	TATAGCTGTGGGATATACAGTGAATATAAAGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:49293210_49293211insTATAGCTGTGGGATATACAGTGAATATAAAGT	ENST00000559471.1	-	15	2374_2375	c.2111_2112insACTTTATATTCACTGTATATCCCACAGCTATA	c.(2110-2112)atcfs	p.-704fs	SECISBP2L_ENST00000559122.1_5'UTR|SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.-659fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like								poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTTTTTGGTAGATGCGTTCCTG	0.371																																						ENST00000559471.1		NA																	0				breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						c.(2110-2112)atcfs		SECIS binding protein 2-like																																				SO:0001589	frameshift_variant	9728							g.chr15:49293210_49293211insTATAGCTGTGGGATATACAGTGAATATAAAGT	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2111_2112insACTTTATATTCACTGTATATCCCACAGCTATA	15.37:g.49293210_49293211insTATAGCTGTGGGATATACAGTGAATATAAAGT	ENSP00000453854:p.Ile704fs	False	False		Somatic	0				SECISBP2L_ENST00000261847.3_Frame_Shift_Ins_p.-659fs|SECISBP2L_ENST00000559122.1_5'UTR	p.-704fs	NM_001193489.1	NP_001180418.1	WXS	Illumina HiSeq	Phase_I	Q93073	SBP2L_HUMAN			15	2374_2375	-			NA					Q8N767	Frame_Shift_Ins	INS	ENST00000559471.1	37	c.2111_2112insACTTTATATTCACTGTATATCCCACAGCTATA	CCDS53942.1																																																																																				0.371	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	0	NM_014701		15:49293210
MAPK6	5597	broad.mit.edu	37	15	52357088	52357089	+	Frame_Shift_Ins	INS	-	-	ATCTTCTTTCC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:52357088_52357089insATCTTCTTTCC	ENST00000261845.5	+	6	2864_2865	c.2057_2058insATCTTCTTTCC	c.(2056-2061)gttgggfs	p.G687fs	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	687					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		CACAGTCCAGTTGGGTCACCAC	0.46																																						ENST00000261845.5		NA																	0				breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20						c.(2056-2061)gttgggfs		mitogen-activated protein kinase 6																																				SO:0001589	frameshift_variant	5597				cell cycle		ATP binding|MAP kinase activity	g.chr15:52357088_52357089insATCTTCTTTCC	L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	Exception_encountered	15.37:g.52357088_52357089insATCTTCTTTCC	ENSP00000261845:p.Gly687fs	True	False		Somatic	0				CTD-2184D3.5_ENST00000558607.1_RNA	p.G687fs	NM_002748.3	NP_002739.1	WXS	Illumina HiSeq	Phase_I	Q16659	MK06_HUMAN		all cancers(107;0.0028)	6	2864_2865	+			687					B2R945|B5BU65|Q68DH4|Q8IYN8	Frame_Shift_Ins	INS	ENST00000261845.5	37	c.2057_2058insATCTTCTTTCC	CCDS10147.1																																																																																				0.460	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254841.2	0	NM_002748		15:52357088
USP8	9101	broad.mit.edu	37	15	50773952	50773953	+	Frame_Shift_Ins	INS	-	-	ACTTTTCC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:50773952_50773953insACTTTTCC	ENST00000396444.3	+	11	1831_1832	c.1493_1494insACTTTTCC	c.(1492-1497)gaacaafs	p.Q499fs	USP8_ENST00000425032.3_Frame_Shift_Ins_p.Q422fs|USP8_ENST00000307179.4_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000433963.1_Frame_Shift_Ins_p.Q499fs	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	499					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.E498E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		aggaaggaagaacaagaacaaa	0.351																																						ENST00000425032.3		NA																	1	Substitution - coding silent(1)	p.E498E(1)	large_intestine(1)	central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1261-1266)gaacaafs		ubiquitin specific peptidase 8																																				SO:0001589	frameshift_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50773952_50773953insACTTTTCC	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	Exception_encountered	15.37:g.50773952_50773953insACTTTTCC	ENSP00000379721:p.Gln499fs	True	False		Somatic	0				USP8_ENST00000307179.4_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000433963.1_Frame_Shift_Ins_p.Q499fs|USP8_ENST00000396444.3_Frame_Shift_Ins_p.Q499fs	p.Q422fs			WXS	Illumina HiSeq	Phase_I	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	9	1455_1456	+			499					B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Frame_Shift_Ins	INS	ENST00000396444.3	37	c.1262_1263insACTTTTCC	CCDS10137.1																																																																																				0.351	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	0	NM_005154		15:50773952
AKAP13	11214	broad.mit.edu	37	15	86207971	86207972	+	In_Frame_Ins	INS	-	-	GCACAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:86207971_86207972insGCACAA	ENST00000394518.2	+	13	5072_5073	c.4977_4978insGCACAA	c.(4978-4980)atg>GCACAAatg	p.1659_1660insAQ	AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA|AKAP13_ENST00000361243.2_In_Frame_Ins_p.1663_1664insAQ	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1659					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GAGAACATAGGATGTTTGATCA	0.406																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2		NA																	0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(4978-4980)atg>GCACAAatg		A kinase (PRKA) anchor protein 13																																				SO:0001652	inframe_insertion	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86207971_86207972insGCACAA	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		Exception_encountered	15.37:g.86207971_86207972insGCACAA	ENSP00000378026:p.Arg1659_Met1660insAlaGln	False	False		Somatic	0				AKAP13_ENST00000361243.2_In_Frame_Ins_p.1663_1664insAQ|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	p.1659_1660insAQ	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	WXS	Illumina HiSeq	Phase_I	Q12802	AKP13_HUMAN			13	5072_5073	+			1659					Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	In_Frame_Ins	INS	ENST00000394518.2	37	c.4977_4978insGCACAA	CCDS32319.1																																																																																				0.406	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	0	NM_007200		15:86207971
BLM	641	broad.mit.edu	37	15	91293298	91293299	+	Splice_Site	INS	-	-	AGGGTGGAGGCAAATCAGTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:91293298_91293299insAGGGTGGAGGCAAATCAGTCT	ENST00000355112.3	+	3	917		c.e3+1		BLM_ENST00000560509.1_Splice_Site	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like						alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GATGAAAGAGGTAACAATTATT	0.342			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000560509.1		NA	yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.e3+1	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like																																				SO:0001630	splice_region_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91293298_91293299insAGGGTGGAGGCAAATCAGTCT	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.799+1->AGGGTGGAGGCAAATCAGTCT	15.37:g.91293298_91293299insAGGGTGGAGGCAAATCAGTCT		False	False		Somatic	0				BLM_ENST00000355112.3_Splice_Site				WXS	Illumina HiSeq	Phase_I	P54132	BLM_HUMAN	Lung(145;0.189)		3	850	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		NA					Q52M96	Splice_Site	INS	ENST00000355112.3	37		CCDS10363.1																																																																																				0.342	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1	0		Intron	15:91293298
VWA3A	146177	broad.mit.edu	37	16	22161152	22161158	+	Frame_Shift_Del	DEL	ACACGCT	ACACGCT	-	rs200724524		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	ACACGCT	ACACGCT	-	-	ACACGCT	ACACGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	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_ENST00000389397.4_Frame_Shift_Del_p.DTL112fs|VWA3A_ENST00000563755.1_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
NFAT5	10725	broad.mit.edu	37	16	69693784	69693785	+	In_Frame_Ins	INS	-	-	AATACAGAAAAAAAATATATAAAGGGA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:69693784_69693785insAATACAGAAAAAAAATATATAAAGGGA	ENST00000354436.2	+	6	1615_1616	c.1297_1298insAATACAGAAAAAAAATATATAAAGGGA	c.(1297-1299)tct>tAATACAGAAAAAAAATATATAAAGGGAct	p.433_433S>*YRKKIYKGT	NFAT5_ENST00000567239.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT|NFAT5_ENST00000432919.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT|NFAT5_ENST00000566899.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000349945.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000393742.2_In_Frame_Ins_p.357_357S>*YRKKIYKGT	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	433	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCAAACACCCTCTTCTCCAATT	0.361																																						ENST00000354436.2		NA																	0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1297-1299)tct>tAATACAGAAAAAAAATATATAAAGGGAct		nuclear factor of activated T-cells 5, tonicity-responsive																																				SO:0001652	inframe_insertion	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69693784_69693785insAATACAGAAAAAAAATATATAAAGGGA	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	Exception_encountered	16.37:g.69693784_69693785insAATACAGAAAAAAAATATATAAAGGGA	ENSP00000346420:p.Ser433delins*TyrArgLysLysIleTyrLysGlyThr	False	False		Somatic	0				NFAT5_ENST00000349945.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000567239.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT|NFAT5_ENST00000393742.2_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000566899.1_In_Frame_Ins_p.357_357S>*YRKKIYKGT|NFAT5_ENST00000432919.1_In_Frame_Ins_p.451_451S>*YRKKIYKGT	p.433_433S>*YRKKIYKGT	NM_006599.3	NP_006590.1	WXS	Illumina HiSeq	Phase_I	O94916	NFAT5_HUMAN			6	1615_1616	+			433			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Ins	INS	ENST00000354436.2	37	c.1297_1298insAATACAGAAAAAAAATATATAAAGGGA	CCDS10881.1																																																																																				0.361	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	0	NM_138714		16:69693784
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
EVI2B	2124	broad.mit.edu	37	17	29632121	29632122	+	Frame_Shift_Ins	INS	-	-	AGCTA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:29632121_29632122insAGCTA	ENST00000330927.4	-	2	660_661	c.506_507insTAGCT	c.(505-507)caafs	p.Q169fs	NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs|NF1_ENST00000358273.4_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	169						integral component of plasma membrane (GO:0005887)		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTGATGTTGGTTGTGTGGATGG	0.342																																						ENST00000330927.4		NA																	11	Whole gene deletion(8)|Unknown(3)	p.0?(8)|p.?(3)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.(505-507)caafs		ecotropic viral integration site 2B																																				SO:0001589	frameshift_variant	2124					cytoplasm|integral to plasma membrane		g.chr17:29632121_29632122insAGCTA		CCDS11266.1	17q11.2	2011-08-11			ENSG00000185862	ENSG00000185862		"""CD molecules"""	3500	protein-coding gene	gene with protein product		158381				1903357	Standard	NM_006495		Approved	D17S376, EVDB, CD361	uc002hgk.2	P34910	OTTHUMG00000132869	ENST00000330927.4:c.506_507insTAGCT	17.37:g.29632121_29632122insAGCTA	ENSP00000333779:p.Gln169fs	True	False		Somatic	0				EVI2B_ENST00000544462.1_Frame_Shift_Ins_p.Q184fs|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Frame_Shift_Ins_p.Q169fs	p.Q169fs	NM_006495.3	NP_006486.3	WXS	Illumina HiSeq	Phase_I	P34910	EVI2B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)	2	660_661	-		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)	169					B7Z4A7	Frame_Shift_Ins	INS	ENST00000330927.4	37	c.506_507insTAGCT	CCDS11266.1																																																																																				0.342	EVI2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256349.2	0	NM_006495		17:29632121
POLI	11201	broad.mit.edu	37	18	51807207	51807208	+	In_Frame_Ins	INS	-	-	TGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:51807207_51807208insTGT	ENST00000579534.1	+	5	873_874	c.730_731insTGT	c.(730-732)aca>aTGTca	p.244_244T>MS	POLI_ENST00000406285.3_Intron|POLI_ENST00000579434.1_In_Frame_Ins_p.141_141T>MS|POLI_ENST00000217800.5_In_Frame_Ins_p.118_118T>MS	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	244	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAATCAACAAACAGTCTTATTA	0.351								DNA polymerases (catalytic subunits)																														ENST00000579434.1		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26						c.(421-423)aca>aTGTca	DNA polymerases (catalytic subunits)	polymerase (DNA directed) iota																																				SO:0001652	inframe_insertion	11201				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	g.chr18:51807207_51807208insTGT		CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	Exception_encountered	18.37:g.51807207_51807208insTGT	ENSP00000462664:p.Thr244delinsMetSer	True	False		Somatic	0				POLI_ENST00000217800.5_In_Frame_Ins_p.118_118T>MS|POLI_ENST00000579534.1_In_Frame_Ins_p.244_244T>MS|POLI_ENST00000406285.3_Intron	p.141_141T>MS			WXS	Illumina HiSeq	Phase_I	Q9UNA4	POLI_HUMAN		Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)	4	955_956	+			244			UmuC.		Q8N590|Q9H0S1|Q9NYH6	In_Frame_Ins	INS	ENST00000579534.1	37	c.421_422insTGT	CCDS11954.2																																																																																				0.351	POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	0	NM_007195		18:51807207
ZNF90	7643	broad.mit.edu	37	19	20228881	20228882	+	Frame_Shift_Ins	INS	-	-	TTTTAACTCTAAATTGC	rs138427736	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:20228881_20228882insTTTTAACTCTAAATTGC	ENST00000418063.2	+	4	630_631	c.518_519insTTTTAACTCTAAATTGC	c.(517-522)ttcaaafs	p.K174fs	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	174					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						AAAAAACCTTTCAAATGTATAG	0.342																																						ENST00000418063.2		NA																	0				breast(1)|lung(2)|ovary(1)|skin(1)	5						c.(517-522)ttcaaafs		zinc finger protein 90																																				SO:0001589	frameshift_variant	7643					Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:20228881_20228882insTTTTAACTCTAAATTGC	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	Exception_encountered	19.37:g.20228881_20228882insTTTTAACTCTAAATTGC	ENSP00000410466:p.Lys174fs	True	False		Somatic	0				ZNF90_ENST00000474284.1_Intron	p.K174fs	NM_007138.1	NP_009069.1	WXS	Illumina HiSeq	Phase_I	Q03938	ZNF90_HUMAN			4	630_631	+			174					B9EH87	Frame_Shift_Ins	INS	ENST00000418063.2	37	c.518_519insTTTTAACTCTAAATTGC	CCDS46028.1																																																																																				0.342	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350101.1	0	NM_007138		19:20228881
ZNF714	148206	broad.mit.edu	37	19	21300607	21300608	+	Frame_Shift_Ins	INS	-	-	ATTGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21300607_21300608insATTGT	ENST00000596143.1	+	5	1462_1463	c.1137_1138insATTGT	c.(1138-1140)tccfs	p.S380fs	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000291770.7_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						CCTTTAACCACTCCTCAAAACT	0.366																																						ENST00000596143.1		NA																	0				endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						c.(1138-1140)tccfs		zinc finger protein 714																																				SO:0001589	frameshift_variant	148206				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21300607_21300608insATTGT	AK056006	CCDS54239.1	19p12	2013-01-08				ENSG00000160352		"""Zinc fingers, C2H2-type"""	27124	protein-coding gene	gene with protein product						12477932	Standard	NM_182515		Approved		uc002npo.4	Q96N38		Exception_encountered	19.37:g.21300607_21300608insATTGT	ENSP00000472368:p.Ser380fs	False	False		Somatic	0				ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR|ZNF714_ENST00000596053.1_Intron	p.S380fs	NM_182515.3	NP_872321.2	WXS	Illumina HiSeq	Phase_I	Q96N38	ZN714_HUMAN			5	1462_1463	+			381					Q49AI1|Q86W65|Q8ND40	Frame_Shift_Ins	INS	ENST00000596143.1	37	c.1137_1138insATTGT	CCDS54239.1																																																																																				0.366	ZNF714-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463930.1	0	NM_182515		19:21300607
ZNF429	353088	broad.mit.edu	37	19	21720598	21720599	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21720598_21720599insA	ENST00000358491.4	+	4	1951_1952	c.1743_1744insA	c.(1744-1746)agtfs	p.S582fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	582					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CAAACCTTAGTAGTCATAAGAA	0.361																																						ENST00000358491.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1744-1746)agtfs		zinc finger protein 429																																				SO:0001589	frameshift_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720598_21720599insA	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	ENST00000358491.4:c.1744dupA	19.37:g.21720599_21720599dupA	ENSP00000351280:p.Ser582fs	False	False		Somatic	1				ZNF429_ENST00000597078.1_Intron	p.S582fs	NM_001001415.2	NP_001001415.2	WXS	Illumina HiSeq	Phase_I	Q86V71	ZN429_HUMAN			4	1951_1952	+			582					A6NLV7|Q9BZE6	Frame_Shift_Ins	INS	ENST00000358491.4	37	c.1743_1744insA	CCDS42537.1																																																																																				0.361	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	0	NM_001001415		19:21720598
ZNF429	353088	broad.mit.edu	37	19	21720600	21720601	+	Frame_Shift_Ins	INS	-	-	GTTTCTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:21720600_21720601insGTTTCTC	ENST00000358491.4	+	4	1953_1954	c.1745_1746insGTTTCTC	c.(1744-1749)agtcatfs	p.SH582fs	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	582					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)			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						AACCTTAGTAGTCATAAGAAAA	0.351																																						ENST00000358491.4		NA																	0				endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						c.(1744-1749)agtcatfs		zinc finger protein 429																																				SO:0001589	frameshift_variant	353088				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21720600_21720601insGTTTCTC	AY269786	CCDS42537.1	19p12	2014-02-14			ENSG00000197013	ENSG00000197013		"""Zinc fingers, C2H2-type"", ""-"""	20817	protein-coding gene	gene with protein product							Standard	NM_001001415		Approved		uc002nqd.1	Q86V71	OTTHUMG00000182848	Exception_encountered	19.37:g.21720600_21720601insGTTTCTC	ENSP00000351280:p.Ser582fs	False	False		Somatic	0				ZNF429_ENST00000597078.1_Intron	p.SH582fs	NM_001001415.2	NP_001001415.2	WXS	Illumina HiSeq	Phase_I	Q86V71	ZN429_HUMAN			4	1953_1954	+			582					A6NLV7|Q9BZE6	Frame_Shift_Ins	INS	ENST00000358491.4	37	c.1745_1746insGTTTCTC	CCDS42537.1																																																																																				0.351	ZNF429-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463981.1	0	NM_001001415		19:21720600
ZNF461	92283	broad.mit.edu	37	19	37130928	37130929	+	In_Frame_Ins	INS	-	-	ACTCAAGAATTTTATGATAGAGAGAAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:37130928_37130929insACTCAAGAATTTTATGATAGAGAGAAA	ENST00000588268.1	-	6	545_546	c.318_319insTTTCTCTCTATCATAAAATTCTTGAGT	c.(316-321)gatgag>gatTTTCTCTCTATCATAAAATTCTTGAGTgag	p.106_107DE>DFLSIIKFLSE	ZNF461_ENST00000360357.4_In_Frame_Ins_p.83_84DE>DFLSIIKFLSE|ZNF461_ENST00000540605.2_5'UTR	NM_153257.2	NP_694989.2	Q8TAF7	ZN461_HUMAN	zinc finger protein 461	106					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)			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TTCTGGGGCTCATCTCTGGATG	0.342																																						ENST00000588268.1		NA																	0				endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29						c.(316-321)gatgag>gatTTTCTCTCTATCATAAAATTCTTGAGTgag		zinc finger protein 461																																				SO:0001652	inframe_insertion	92283				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37130928_37130929insACTCAAGAATTTTATGATAGAGAGAAA	BX649031	CCDS54257.1, CCDS74348.1	19q13.13	2013-01-08				ENSG00000197808		"""Zinc fingers, C2H2-type"", ""-"""	21629	protein-coding gene	gene with protein product		608640				11579202, 15004467	Standard	XM_005259402		Approved	GIOT-1, MGC33911	uc002oem.3	Q8TAF7		ENST00000588268.1:c.318_319insTTTCTCTCTATCATAAAATTCTTGAGT	19.37:g.37130928_37130929insACTCAAGAATTTTATGATAGAGAGAAA	ENSP00000467931:p.Asp106_Glu107insPheLeuSerIleIleLysPheLeuSer	False	False		Somatic	0				ZNF461_ENST00000540605.2_5'UTR|ZNF461_ENST00000360357.4_In_Frame_Ins_p.83_84DE>DFLSIIKFLSE	p.106_107DE>DFLSIIKFLSE	NM_153257.2	NP_694989.2	WXS	Illumina HiSeq	Phase_I	Q8TAF7	ZN461_HUMAN	COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)		6	545_546	-	Esophageal squamous(110;0.198)		106					A8K9W9|Q6VSF7|Q9ULZ8	In_Frame_Ins	INS	ENST00000588268.1	37	c.318_319insTTTCTCTCTATCATAAAATTCTTGAGT	CCDS54257.1																																																																																				0.342	ZNF461-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453202.1	0	NM_153257		19:37130928
PTH2	113091	broad.mit.edu	37	19	49926524	49926525	+	In_Frame_Ins	INS	-	-	CAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:49926524_49926525insCAC	ENST00000270631.1	-	1	173_174	c.72_73insGTG	c.(70-75)gtgccc>gtgGTGccc	p.24_25insV	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	24					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		ACGCCCCAGGGCACCACcagca	0.683																																						ENST00000270631.1		NA																	0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(70-75)gtgccc>gtgGTGccc		parathyroid hormone 2																																				SO:0001652	inframe_insertion	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926524_49926525insCAC	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.70_72dupGTG	19.37:g.49926528_49926530dupCAC	ENSP00000270631:p.Val24_Val24dup	True	False		Somatic	2					p.24_25insV	NM_178449.3	NP_848544.1	WXS	Illumina HiSeq	Phase_I	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	173_174	-			24					Q96DJ4	In_Frame_Ins	INS	ENST00000270631.1	37	c.72_73insGTG	CCDS12763.1																																																																																				0.683	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	0	NM_178449		19:49926524
SNRPB2	6629	broad.mit.edu	37	20	16712412	16712413	+	Splice_Site	INS	-	-	AGTAAATTATACTGAACTGTGGCA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:16712412_16712413insAGTAAATTATACTGAACTGTGGCA	ENST00000246071.6	+	2	280		c.e2+1		RP4-705D16.3_ENST00000425939.1_RNA|SNRPB2_ENST00000478522.1_Splice_Site|SNRPB2_ENST00000377943.5_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2 snRNP (GO:0005686)	nucleotide binding (GO:0000166)|snRNA binding (GO:0017069)			large_intestine(2)|lung(2)|urinary_tract(1)	5						AAAAAGGAAGGTAAGTGCTTTT	0.292																																						ENST00000246071.6		NA																	0				large_intestine(2)|lung(2)|urinary_tract(1)	5						c.e2+1		small nuclear ribonucleoprotein polypeptide B																																				SO:0001630	splice_region_variant	6629					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding	g.chr20:16712412_16712413insAGTAAATTATACTGAACTGTGGCA		CCDS13123.1	20p12.1	2013-02-12	2010-07-07		ENSG00000125870	ENSG00000125870		"""RNA binding motif (RRM) containing"""	11155	protein-coding gene	gene with protein product		603520	"""small nuclear ribonucleoprotein polypeptide B2"", ""small nuclear ribonucleoprotein polypeptide B''"""			2951739	Standard	NM_198220		Approved	Msl1	uc002wpi.2	P08579	OTTHUMG00000031933	ENST00000246071.6:c.64+1->AGTAAATTATACTGAACTGTGGCA	20.37:g.16712412_16712413insAGTAAATTATACTGAACTGTGGCA		True	False		Somatic	0				SNRPB2_ENST00000377943.5_Splice_Site|SNRPB2_ENST00000478522.1_Splice_Site		NM_003092.4	NP_003083.1	WXS	Illumina HiSeq	Phase_I	P08579	RU2B_HUMAN			2	280	+			NA					B2R7J3|D3DW21|Q9UJD4	Splice_Site	INS	ENST00000246071.6	37		CCDS13123.1																																																																																				0.292	SNRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078110.1	0	NM_003092	Intron	20:16712412
ZNF678	339500	broad.mit.edu	37	1	227843311	227843312	+	Frame_Shift_Ins	INS	-	-	CTTG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:227843311_227843312insCTTG	ENST00000343776.5	+	4	1705_1706	c.1360_1361insCTTG	c.(1360-1362)attfs	p.I454fs	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Frame_Shift_Ins_p.I509fs	NM_178549.3	NP_848644.2	Q5SXM1	ZN678_HUMAN	zinc finger protein 678	454					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				GCATAAGAGAATTCATACTGAA	0.366																																						ENST00000343776.4		NA																	0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24						c.(1360-1362)attfs		zinc finger protein 678																																				SO:0001589	frameshift_variant	339500				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr1:227843311_227843312insCTTG	BC042500		1q42.13	2013-01-08			ENSG00000181450	ENSG00000181450		"""Zinc fingers, C2H2-type"", ""-"""	28652	protein-coding gene	gene with protein product	"""hypothetical protein MGC42493"""					12477932	Standard	NM_178549		Approved	MGC42493	uc021pjy.1	Q5SXM1	OTTHUMG00000037700	Exception_encountered	1.37:g.227843311_227843312insCTTG	ENSP00000344828:p.Ile454fs	False	False		Somatic	0				ZNF678_ENST00000397097.3_Frame_Shift_Ins_p.I509fs|ZNF678_ENST00000498759.1_Intron	p.I454fs			WXS	Illumina HiSeq	Phase_I	F5GXA7	F5GXA7_HUMAN			4	1705_1706	+		Prostate(94;0.0885)	509					Q8IVQ9	Frame_Shift_Ins	INS	ENST00000343776.5	37	c.1360_1361insCTTG																																																																																					0.366	ZNF678-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000091976.2	0	NM_178549		1:227843311
EP300	2033	broad.mit.edu	37	22	41542816	41542822	+	Splice_Site	DEL	ATCTGGT	ATCTGGT	-			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	ATCTGGT	ATCTGGT	-	-	ATCTGGT	ATCTGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:41542816_41542822delATCTGGT	ENST00000263253.7	+	11	3346_3350	c.2127_2131delATCTGGT	c.(2125-2133)caatctggt>cagt	p.SG710fs		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	710					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TAACTCCACAATCTGGTAAATAGTGaa	0.401			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7		NA		Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(2125-2133)caatctggt>cagt		E1A binding protein p300																																				SO:0001630	splice_region_variant	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41542816_41542822delATCTGGT	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2131+1ATCTGGT>-	22.37:g.41542816_41542822delATCTGGT		False	False		Somatic	1					p.SG710fs	NM_001429.3	NP_001420.2	WXS	Illumina HiSeq	Phase_I	Q09472	EP300_HUMAN			11	3346_3350	+			710					B1AKC2	Splice_Site	DEL	ENST00000263253.7	37	c.2127_2131delATCTGGT	CCDS14010.1																																																																																				0.401	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	0	NM_001429	Frame_Shift_Del	22:41542816
SHROOM4	57477	broad.mit.edu	37	X	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-	rs3747282	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:50350672_50350674delTCT	ENST00000289292.7	-	6	3751_3753	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557																																						ENST00000460112.3		NA																	1	Substitution - coding silent(1)	p.E1156E(1)	skin(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(3118-3123)gaagag>gag		shroom family member 4																																				SO:0001651	inframe_deletion	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50350672_50350674delTCT	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3468_3470delAGA	X.37:g.50350672_50350674delTCT	ENSP00000289292:p.Glu1158del	False	False		Somatic	1				SHROOM4_ENST00000376020.2_In_Frame_Del_p.1156_1157EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E	p.1040_1041EE>E			WXS	Illumina HiSeq	Phase_I	Q9ULL8	SHRM4_HUMAN			5	3574_3576	-	Ovarian(276;0.236)		1156					A7E2X9|D6RFW0|Q96LA0	In_Frame_Del	DEL	ENST00000289292.7	37	c.3120_3122delAGA	CCDS35277.1																																																																																				0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	0	NM_020717		X:50350672
GPRASP1	9737	broad.mit.edu	37	X	101909010	101909011	+	Frame_Shift_Ins	INS	-	-	GTACTAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:101909010_101909011insGTACTAT	ENST00000361600.5	+	5	970_971	c.169_170insGTACTAT	c.(169-171)aagfs	p.K57fs	GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.K57fs|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.K57fs|GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.K57fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	57					endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAATAAGTCCAAGGTTATGCCT	0.53																																						ENST00000361600.5		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(169-171)aagfs		G protein-coupled receptor associated sorting protein 1																																				SO:0001589	frameshift_variant	9737					cytoplasm	protein binding	g.chrX:101909010_101909011insGTACTAT	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	Exception_encountered	X.37:g.101909010_101909011insGTACTAT	ENSP00000355146:p.Lys57fs	False	False		Somatic	0				GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.K57fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.K57fs|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.K57fs	p.K57fs	NM_014710.4	NP_055525.3	WXS	Illumina HiSeq	Phase_I	Q5JY77	GASP1_HUMAN			5	970_971	+			57					O43168|Q96LA1	Frame_Shift_Ins	INS	ENST00000361600.5	37	c.169_170insGTACTAT	CCDS35352.1																																																																																				0.530	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	0	NM_014710		X:101909010
CSAG1	158511	broad.mit.edu	37	X	151904512	151904513	+	In_Frame_Ins	INS	-	-	GAT	rs200040264		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:151904512_151904513insGAT	ENST00000370287.3	+	3	338_339	c.10_11insGAT	c.(10-12)act>aGATct	p.4_4T>RS	MAGEA12_ENST00000357916.4_5'Flank|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370291.2_In_Frame_Ins_p.4_4T>RS|MAGEA12_ENST00000393869.3_5'Flank|MAGEA12_ENST00000393900.3_5'Flank|CSAG1_ENST00000452779.2_In_Frame_Ins_p.4_4T>RS	NM_153478.1	NP_705611.1	Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	4										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTCGGCGACTACAGGTAAG	0.356																																						ENST00000370291.2		NA																	0				central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(10-12)act>aGATct		chondrosarcoma associated gene 1																																				SO:0001652	inframe_insertion	158511							g.chrX:151904512_151904513insGAT	AF268419	CCDS76047.1	Xq28	2009-08-07			ENSG00000198930	ENSG00000198930			24294	protein-coding gene	gene with protein product	"""cancer/testis antigen family 24, member 1"""					12039054	Standard	XM_006724810		Approved	CSAGE, CT24.1	uc004fgf.3	Q6PB30	OTTHUMG00000022648	Exception_encountered	X.37:g.151904512_151904513insGAT	ENSP00000359310:p.Thr4delinsArgSer	False	False		Somatic	0				CSAG1_ENST00000452779.2_In_Frame_Ins_p.4_4T>RS|CSAG1_ENST00000370287.3_In_Frame_Ins_p.4_4T>RS	p.4_4T>RS			WXS	Illumina HiSeq	Phase_I	Q6PB30	CSAG1_HUMAN			3	290_291	+	Acute lymphoblastic leukemia(192;6.56e-05)		4					A6NE22	In_Frame_Ins	INS	ENST00000370287.3	37	c.10_11insGAT	CCDS14711.1																																																																																				0.356	CSAG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058760.2	0	NM_153479		X:151904512
HEATR5B	54497	broad.mit.edu	37	2	37229687	37229688	+	Frame_Shift_Ins	INS	-	-	TTGAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:37229687_37229688insTTGAT	ENST00000233099.5	-	32	5173_5174	c.5078_5079insATCAA	c.(5077-5079)tgtfs	p.C1693fs	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1693						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCAATACGGTACAGGCCTCTTT	0.386																																						ENST00000233099.5		NA																	0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5077-5079)tgtfs		HEAT repeat containing 5B																																				SO:0001589	frameshift_variant	54497						binding	g.chr2:37229687_37229688insTTGAT	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5078_5079insATCAA	2.37:g.37229687_37229688insTTGAT	ENSP00000233099:p.Cys1693fs	False	False		Somatic	0				HEATR5B_ENST00000354531.2_Intron	p.C1693fs	NM_019024.1	NP_061897.1	WXS	Illumina HiSeq	Phase_I	Q9P2D3	HTR5B_HUMAN			32	5173_5174	-		all_hematologic(82;0.21)	1693					B5MDU8|Q7Z3B2|Q9NVL7	Frame_Shift_Ins	INS	ENST00000233099.5	37	c.5078_5079insATCAA	CCDS33181.1																																																																																				0.386	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	0	NM_019024		2:37229687
MSH2	4436	broad.mit.edu	37	2	47637485	47637486	+	Frame_Shift_Ins	INS	-	-	C	rs63750913		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:47637485_47637486insC	ENST00000233146.2	+	3	842_843	c.619_620insC	c.(619-621)gctfs	p.A207fs	MSH2_ENST00000406134.1_Frame_Shift_Ins_p.A207fs|MSH2_ENST00000543555.1_Frame_Shift_Ins_p.A141fs	NM_000251.2	NP_000242.1	P43246	MSH2_HUMAN	mutS homolog 2	207					ATP catabolic process (GO:0006200)|B cell differentiation (GO:0030183)|B cell mediated immunity (GO:0019724)|cell cycle arrest (GO:0007050)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|germ cell development (GO:0007281)|in utero embryonic development (GO:0001701)|intra-S DNA damage checkpoint (GO:0031573)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|isotype switching (GO:0045190)|maintenance of DNA repeat elements (GO:0043570)|male gonad development (GO:0008584)|meiotic gene conversion (GO:0006311)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reciprocal meiotic recombination (GO:0045128)|oxidative phosphorylation (GO:0006119)|positive regulation of helicase activity (GO:0051096)|postreplication repair (GO:0006301)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	membrane (GO:0016020)|MutSalpha complex (GO:0032301)|MutSbeta complex (GO:0032302)|nuclear chromosome (GO:0000228)	ATP binding (GO:0005524)|centromeric DNA binding (GO:0019237)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|double-strand/single-strand DNA junction binding (GO:0000406)|enzyme binding (GO:0019899)|guanine/thymine mispair binding (GO:0032137)|heteroduplex DNA loop binding (GO:0000404)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|Y-form DNA binding (GO:0000403)	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGGAGAGACTGCTGGAGACATG	0.45			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																													ENST00000406134.1		NA	yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p22-p21	4436	"""D, Mis, N, F, S"""	mutS homolog 2 (E. coli)			E		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		3	Whole gene deletion(2)|Unknown(1)	p.0?(2)|p.?(1)	haematopoietic_and_lymphoid_tissue(3)	NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112						c.(619-621)gctfs	Mismatch excision repair (MMR)	mutS homolog 2																																				SO:0001589	frameshift_variant	4436	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	g.chr2:47637485_47637486insC	U03911	CCDS1834.1, CCDS58709.1	2p21	2014-09-17	2013-09-12		ENSG00000095002	ENSG00000095002			7325	protein-coding gene	gene with protein product		609309	"""mutS (E. coli) homolog 2 (colon cancer, nonpolyposis type 1)"", ""mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)"""	COCA1		8484120, 9843200	Standard	NM_000251		Approved	HNPCC, HNPCC1	uc002rvy.2	P43246	OTTHUMG00000128861	ENST00000233146.2:c.620dupC	2.37:g.47637486_47637486dupC	ENSP00000233146:p.Ala207fs	False	False		Somatic	1				MSH2_ENST00000543555.1_Frame_Shift_Ins_p.A141fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.A207fs	p.A207fs			WXS	Illumina HiSeq	Phase_I	P43246	MSH2_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	681_682	+		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	207					B4E2Z2|O75488	Frame_Shift_Ins	INS	ENST00000233146.2	37	c.619_620insC	CCDS1834.1																																																																																				0.450	MSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250805.3	0			2:47637485
REL	5966	broad.mit.edu	37	2	61128209	61128210	+	In_Frame_Ins	INS	-	-	ATATAGCAATACTGAAGTTAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:61128209_61128210insATATAGCAATACTGAAGTTAT	ENST00000295025.8	+	4	705_706	c.385_386insATATAGCAATACTGAAGTTAT	c.(385-387)cca>cATATAGCAATACTGAAGTTATca	p.129_129P>HIAILKLS	REL_ENST00000394479.3_In_Frame_Ins_p.129_129P>HIAILKLS	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	129	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			AGGAATCAATCCATTCAATGGT	0.257			A		Hodgkin Lymphoma																																	ENST00000295025.7		NA		Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(385-387)cca>cATATAGCAATACTGAAGTTATca		v-rel avian reticuloendotheliosis viral oncogene homolog																																				SO:0001652	inframe_insertion	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61128209_61128210insATATAGCAATACTGAAGTTAT	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	Exception_encountered	2.37:g.61128209_61128210insATATAGCAATACTGAAGTTAT	ENSP00000295025:p.Pro129delinsHisIleAlaIleLeuLysLeuSer	True	False		Somatic	0				REL_ENST00000394479.3_In_Frame_Ins_p.129_129P>HIAILKLS	p.129_129P>HIAILKLS	NM_002908.2	NP_002899.1	WXS	Illumina HiSeq	Phase_I	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		4	705_706	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	129			RHD.		Q17RU2|Q2PNZ7|Q6LDY0	In_Frame_Ins	INS	ENST00000295025.8	37	c.385_386insATATAGCAATACTGAAGTTAT	CCDS1864.1																																																																																				0.257	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	0	NM_002908		2:61128209
AFTPH	54812	broad.mit.edu	37	2	64779684	64779685	+	In_Frame_Ins	INS	-	-	TCCTCT	rs372624982		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:64779684_64779685insTCCTCT	ENST00000422803.1	+	2	1390_1391	c.1076_1077insTCCTCT	c.(1075-1080)gactta>gaTCCTCTctta	p.359_360DL>DPLL	AFTPH_ENST00000409933.1_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000238855.7_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000238856.4_In_Frame_Ins_p.359_360DL>DPLL			Q6ULP2	AFTIN_HUMAN	aftiphilin	359					protein transport (GO:0015031)	AP-1 adaptor complex (GO:0030121)|cytosol (GO:0005829)	clathrin binding (GO:0030276)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAAAAACTTGACTTACTTACTT	0.361																																						ENST00000238856.4		NA																	0				breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						c.(1075-1080)gactta>gaTCCTCTctta		aftiphilin																																				SO:0001652	inframe_insertion	54812				protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding	g.chr2:64779684_64779685insTCCTCT	AB073356	CCDS1878.1, CCDS46303.1	2p14	2008-02-05			ENSG00000119844	ENSG00000119844			25951	protein-coding gene	gene with protein product						14665628, 15758025, 15811338	Standard	NM_017657		Approved	MGC33965, FLJ20080, FLJ23793, Nbla10388	uc002scz.3	Q6ULP2	OTTHUMG00000129539	Exception_encountered	2.37:g.64779684_64779685insTCCTCT	ENSP00000397726:p.Asp359_Leu360insProLeu	True	False		Somatic	0				AFTPH_ENST00000409183.1_5'UTR|AFTPH_ENST00000409933.1_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000238855.7_In_Frame_Ins_p.359_360DL>DPLL|AFTPH_ENST00000422803.1_In_Frame_Ins_p.359_360DL>DPLL	p.359_360DL>DPLL	NM_001002243.2|NM_017657.4	NP_001002243.1|NP_060127.3	WXS	Illumina HiSeq	Phase_I	Q6ULP2	AFTIN_HUMAN			2	1390_1391	+			359					D6W5E9|Q6ZM66|Q86VW3|Q8TCF3|Q9H7E3|Q9HAB9|Q9NXS4	In_Frame_Ins	INS	ENST00000422803.1	37	c.1076_1077insTCCTCT																																																																																					0.361	AFTPH-202	KNOWN	basic	protein_coding	protein_coding		0	NM_017657		2:64779684
SP3	6670	broad.mit.edu	37	2	174774896	174774897	+	Frame_Shift_Ins	INS	-	-	ACAGC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:174774896_174774897insACAGC	ENST00000310015.6	-	7	2648_2649	c.2118_2119insGCTGT	c.(2116-2121)aaaaaafs	p.K707fs	SP3_ENST00000418194.2_Frame_Shift_Ins_p.K639fs|SP3_ENST00000455789.2_Frame_Shift_Ins_p.K654fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	707					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TGAATACCTTTTTTATTCTGGT	0.391																																						ENST00000310015.6		NA																EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(2116-2121)aaaaaafs		Sp3 transcription factor																																				SO:0001589	frameshift_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174774896_174774897insACAGC	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.2118_2119insGCTGT	2.37:g.174774896_174774897insACAGC	ENSP00000310301:p.Lys707fs	True	False		Somatic	0				SP3_ENST00000418194.2_Frame_Shift_Ins_p.K639fs|SP3_ENST00000455789.2_Frame_Shift_Ins_p.K654fs	p.K707fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	WXS	Illumina HiSeq	Phase_I	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		7	2648_2649	-			707					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Frame_Shift_Ins	INS	ENST00000310015.6	37	c.2118_2119insGCTGT	CCDS2254.1																																																																																				0.391	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	0	NM_003111		2:174774896
SGOL2	151246	broad.mit.edu	37	2	201436687	201436688	+	Frame_Shift_Ins	INS	-	-	CTCTT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:201436687_201436688insCTCTT	ENST00000357799.4	+	7	1716_1717	c.1618_1619insCTCTT	c.(1618-1620)attfs	p.I540fs		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	540					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GACATTTGTGATTCACAAATTA	0.332																																						ENST00000357799.4		NA																	0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1618-1620)attfs		shugoshin-like 2 (S. pombe)																																				SO:0001589	frameshift_variant	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436687_201436688insCTCTT	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	Exception_encountered	2.37:g.201436687_201436688insCTCTT	ENSP00000350447:p.Ile540fs	False	False		Somatic	0					p.I540fs	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina HiSeq	Phase_I	Q562F6	SGOL2_HUMAN			7	1716_1717	+			540					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Frame_Shift_Ins	INS	ENST00000357799.4	37	c.1618_1619insCTCTT	CCDS42796.1																																																																																				0.332	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	NM_152524		2:201436687
AGPS	8540	broad.mit.edu	37	2	178402901	178402902	+	Frame_Shift_Ins	INS	-	-	GTGACCATGAG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:178402901_178402902insGTGACCATGAG	ENST00000264167.4	+	20	2101_2102	c.1955_1956insGTGACCATGAG	c.(1954-1959)tttggafs	p.FG652fs	AGPS_ENST00000409888.1_Frame_Shift_Ins_p.FG183fs	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	652					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|lipid biosynthetic process (GO:0008610)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	alkylglycerone-phosphate synthase activity (GO:0008609)|FAD binding (GO:0071949)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			AATAACATCTTTGGAAACAGAA	0.342																																						ENST00000264167.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32						c.(1954-1959)tttggafs		alkylglycerone phosphate synthase																																				SO:0001589	frameshift_variant	8540				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity	g.chr2:178402901_178402902insGTGACCATGAG	Y09443	CCDS2275.1	2q	2008-02-05			ENSG00000018510	ENSG00000018510	2.5.1.26		327	protein-coding gene	gene with protein product		603051				9187299, 9553082	Standard	NM_003659		Approved	ADHAPS, ADAS, ALDHPSY, ADPS, ADAP-S	uc002ull.2	O00116	OTTHUMG00000132530	Exception_encountered	2.37:g.178402901_178402902insGTGACCATGAG	ENSP00000264167:p.Phe652fs	True	False		Somatic	0				AGPS_ENST00000409888.1_Frame_Shift_Ins_p.FG183fs	p.FG652fs	NM_003659.3	NP_003650.1	WXS	Illumina HiSeq	Phase_I	O00116	ADAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)		20	2101_2102	+			652					A5D8U9|Q2TU35	Frame_Shift_Ins	INS	ENST00000264167.4	37	c.1955_1956insGTGACCATGAG	CCDS2275.1																																																																																				0.342	AGPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255730.2	0			2:178402901
RPS6KA1	6195	broad.mit.edu	37	1	26872494	26872495	+	Intron	INS	-	-	AAT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:26872494_26872495insAAT	ENST00000374168.2	+	3	262				RPS6KA1_ENST00000526792.1_Intron|RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000531382.1_In_Frame_Ins_p.35_35P>QS|RPS6KA1_ENST00000530003.1_Intron	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1						axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCTGCCTGTCCCTGGCCCTGGC	0.683																																						ENST00000531382.1		NA																	0				lung(1)	1						c.(103-105)cct>cAATct		ribosomal protein S6 kinase, 90kDa, polypeptide 1																																				SO:0001627	intron_variant	6195				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr1:26872494_26872495insAAT	BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.109-863->AAT	1.37:g.26872494_26872495insAAT		True	False		Somatic	0				RPS6KA1_ENST00000374166.4_Intron|RPS6KA1_ENST00000374168.2_Intron|RPS6KA1_ENST00000374162.2_Intron|RPS6KA1_ENST00000530003.1_Intron|RPS6KA1_ENST00000526792.1_Intron	p.35_35P>QS	NM_001006665.1	NP_001006666.1	WXS	Illumina HiSeq	Phase_I	Q15418	KS6A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)	1	152_153	+		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	26					A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	In_Frame_Ins	INS	ENST00000374168.2	37	c.103_104insAAT	CCDS284.1																																																																																				0.683	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011431.1	0	NM_002953		1:26872494
SPEF2	79925	broad.mit.edu	37	5	35704744	35704745	+	In_Frame_Ins	INS	-	-	TTTAATTAGATAATTTTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:35704744_35704745insTTTAATTAGATAATTTTC	ENST00000356031.3	+	17	2641_2642	c.2487_2488insTTTAATTAGATAATTTTC	c.(2488-2490)aga>TTTAATTAGATAATTTTCaga	p.829_830insFN*IIF	SPEF2_ENST00000509059.1_In_Frame_Ins_p.824_825insFN*IIF|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000440995.2_In_Frame_Ins_p.824_825insFN*IIF	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	829					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACCAAAATTTAAGAGACCAGAT	0.342																																						ENST00000440995.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37						c.(2473-2475)aga>TTTAATTAGATAATTTTCaga		sperm flagellar 2																																				SO:0001652	inframe_insertion	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35704744_35704745insTTTAATTAGATAATTTTC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	Exception_encountered	5.37:g.35704744_35704745insTTTAATTAGATAATTTTC	ENSP00000348314:p.Leu829_Arg830insPheAsn*IleIlePhe	False	False		Somatic	0				SPEF2_ENST00000356031.3_In_Frame_Ins_p.829_830insFN*IIF|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_In_Frame_Ins_p.824_825insFN*IIF	p.824_825insFN*IIF			WXS	Illumina HiSeq	Phase_I	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		17	2472_2473	+	all_lung(31;7.56e-05)		829					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	In_Frame_Ins	INS	ENST00000356031.3	37	c.2472_2473insTTTAATTAGATAATTTTC	CCDS43309.1																																																																																				0.342	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	0	NM_144722		5:35704744
NIPBL	25836	broad.mit.edu	37	5	37049358	37049359	+	Frame_Shift_Ins	INS	-	-	ATTTCAAAATTAG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:37049358_37049359insATTTCAAAATTAG	ENST00000282516.8	+	40	7408_7409	c.6909_6910insATTTCAAAATTAG	c.(6910-6912)gtcfs	p.V2304fs	NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.V2304fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2304					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTGCCCTAAATGTCATTGCATT	0.401																																						ENST00000282516.8		NA																	0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(6910-6912)gtcfs		Nipped-B homolog (Drosophila)																																				SO:0001589	frameshift_variant	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37049358_37049359insATTTCAAAATTAG	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	Exception_encountered	5.37:g.37049358_37049359insATTTCAAAATTAG	ENSP00000282516:p.Val2304fs	False	False		Somatic	0				NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.V2304fs	p.V2304fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	WXS	Illumina HiSeq	Phase_I	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		40	7408_7409	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2304					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Frame_Shift_Ins	INS	ENST00000282516.8	37	c.6909_6910insATTTCAAAATTAG	CCDS3920.1																																																																																				0.401	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	0	NM_015384		5:37049358
NUP155	9631	broad.mit.edu	37	5	37292136	37292137	+	Frame_Shift_Ins	INS	-	-	AAGAATGTAAGAACAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:37292136_37292137insAAGAATGTAAGAACAA	ENST00000231498.3	-	35	4244_4245	c.4041_4042insTTGTTCTTACATTCTT	c.(4039-4044)agaagafs	p.R1348fs	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Frame_Shift_Ins_p.R1284fs|NUP155_ENST00000381843.2_Frame_Shift_Ins_p.R1289fs	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1348					atrial cardiac muscle cell action potential (GO:0086014)|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 export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTTGTAAATCTTCTCCTACAAC	0.406																																						ENST00000231498.3		NA																	0				endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62						c.(4039-4044)agaagafs		nucleoporin 155kDa																																				SO:0001589	frameshift_variant	9631				carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity	g.chr5:37292136_37292137insAAGAATGTAAGAACAA	AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.4041_4042insTTGTTCTTACATTCTT	5.37:g.37292136_37292137insAAGAATGTAAGAACAA	ENSP00000231498:p.Arg1348fs	False	False		Somatic	0				NUP155_ENST00000381843.2_Frame_Shift_Ins_p.R1289fs|NUP155_ENST00000513532.1_Frame_Shift_Ins_p.R1284fs|NUP155_ENST00000502533.1_5'UTR	p.R1348fs	NM_153485.1	NP_705618.1	WXS	Illumina HiSeq	Phase_I	O75694	NU155_HUMAN	COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		35	4244_4245	-	all_lung(31;0.000137)		1348					Q9UBE9|Q9UFL5	Frame_Shift_Ins	INS	ENST00000231498.3	37	c.4041_4042insTTGTTCTTACATTCTT	CCDS3921.1																																																																																				0.406	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207593.2	0	NM_153485, NM_004298		5:37292136
ARHGEF28	64283	broad.mit.edu	37	5	73166021	73166022	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:73166021_73166022insAA	ENST00000426542.2	+	20	2573_2574	c.2553_2554insAA	c.(2554-2556)gatfs	p.D852fs	ARHGEF28_ENST00000287898.5_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000545377.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000513042.2_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Ins_p.D539fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Ins_p.D852fs			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	852	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TCAAAAGACAGGATGTCATTTT	0.436																																						ENST00000426542.2		NA																	0					NA						c.(2554-2556)gatfs		Rho guanine nucleotide exchange factor (GEF) 28																																				SO:0001589	frameshift_variant	64283							g.chr5:73166021_73166022insAA		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	Exception_encountered	5.37:g.73166021_73166022insAA	ENSP00000412175:p.Asp852fs	False	False		Somatic	0				ARHGEF28_ENST00000513042.2_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000287898.5_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000545377.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Ins_p.D539fs	p.D852fs			WXS	Illumina HiSeq	Phase_I					20	2573_2574	+			NA					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Frame_Shift_Ins	INS	ENST00000426542.2	37	c.2553_2554insAA	CCDS54870.1																																																																																				0.436	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1	0			5:73166021
ARHGEF28	64283	broad.mit.edu	37	5	73166022	73166023	+	Frame_Shift_Ins	INS	-	-	TACAATA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:73166022_73166023insTACAATA	ENST00000426542.2	+	20	2574_2575	c.2554_2555insTACAATA	c.(2554-2556)gatfs	p.D852fs	ARHGEF28_ENST00000287898.5_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000545377.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000513042.2_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Ins_p.D539fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Ins_p.D852fs			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	852	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										CAAAAGACAGGATGTCATTTTT	0.436																																						ENST00000426542.2		NA																	0					NA						c.(2554-2556)gatfs		Rho guanine nucleotide exchange factor (GEF) 28																																				SO:0001589	frameshift_variant	64283							g.chr5:73166022_73166023insTACAATA		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	Exception_encountered	5.37:g.73166022_73166023insTACAATA	ENSP00000412175:p.Asp852fs	False	False		Somatic	0				ARHGEF28_ENST00000513042.2_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000287898.5_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000545377.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000437974.1_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296794.6_Frame_Shift_Ins_p.D852fs|ARHGEF28_ENST00000296799.4_Frame_Shift_Ins_p.D539fs	p.D852fs			WXS	Illumina HiSeq	Phase_I					20	2574_2575	+			NA					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Frame_Shift_Ins	INS	ENST00000426542.2	37	c.2554_2555insTACAATA	CCDS54870.1																																																																																				0.436	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1	0			5:73166022
CMYA5	202333	broad.mit.edu	37	5	79025540	79025541	+	In_Frame_Ins	INS	-	-	ATTTCTTTAATTACA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:79025540_79025541insATTTCTTTAATTACA	ENST00000446378.2	+	2	983_984	c.952_953insATTTCTTTAATTACA	c.(952-954)ttc>tATTTCTTTAATTACAtc	p.318_318F>YFFNYI		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	318					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AACCTTAATGTTCAGTCATGAA	0.431																																						ENST00000446378.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(952-954)ttc>tATTTCTTTAATTACAtc		cardiomyopathy associated 5																																				SO:0001652	inframe_insertion	202333					perinuclear region of cytoplasm		g.chr5:79025540_79025541insATTTCTTTAATTACA	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	Exception_encountered	5.37:g.79025540_79025541insATTTCTTTAATTACA	ENSP00000394770:p.Phe318delinsTyrPhePheAsnTyrIle	False	False		Somatic	0					p.318_318F>YFFNYI	NM_153610.3	NP_705838.3	WXS	Illumina HiSeq	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	983_984	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	318					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	In_Frame_Ins	INS	ENST00000446378.2	37	c.952_953insATTTCTTTAATTACA	CCDS47238.1																																																																																				0.431	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79025540
SLCO6A1	133482	broad.mit.edu	37	5	101755631	101755632	+	Frame_Shift_Ins	INS	-	-	TGTTCATGTAATT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:101755631_101755632insTGTTCATGTAATT	ENST00000506729.1	-	8	1541_1542	c.1370_1371insAATTACATGAACA	c.(1369-1371)tttfs	p.F457fs	SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.F457fs|SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000514551.1_De_novo_Start_OutOfFrame|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.F395fs			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	457						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TAACCATTATAAATCTCATAAG	0.366																																						ENST00000514551.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60								solute carrier organic anion transporter family, member 6A1																																				SO:0001589	frameshift_variant	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101755631_101755632insTGTTCATGTAATT	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1370_1371insAATTACATGAACA	5.37:g.101755631_101755632insTGTTCATGTAATT	ENSP00000421339:p.Phe457fs	True	False		Somatic	0				SLCO6A1_ENST00000513675.1_Intron|SLCO6A1_ENST00000379810.1_Intron|SLCO6A1_ENST00000506729.1_Frame_Shift_Ins_p.F457fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Ins_p.F395fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Ins_p.F457fs				WXS	Illumina HiSeq	Phase_I	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	0	821_822	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	NA					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Translation_Start_Site	INS	ENST00000506729.1	37		CCDS34206.1																																																																																				0.366	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	0	NM_173488		5:101755631
ZSWIM5	57643	broad.mit.edu	37	1	45553906	45553907	+	Frame_Shift_Ins	INS	-	-	TAGGGACC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:45553906_45553907insTAGGGACC	ENST00000359600.5	-	2	803_804	c.598_599insGGTCCCTA	c.(598-600)tttfs	p.F200fs	ZSWIM5_ENST00000464588.1_5'UTR	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	200						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACTCAGATGAAAGCCTAAGGAA	0.356																																						ENST00000359600.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(598-600)tttfs		zinc finger, SWIM-type containing 5																																				SO:0001589	frameshift_variant	57643						zinc ion binding	g.chr1:45553906_45553907insTAGGGACC	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.598_599insGGTCCCTA	1.37:g.45553906_45553907insTAGGGACC	ENSP00000352614:p.Phe200fs	True	False		Somatic	0				ZSWIM5_ENST00000464588.1_5'UTR	p.F200fs	NM_020883.1	NP_065934.1	WXS	Illumina HiSeq	Phase_I	Q9P217	ZSWM5_HUMAN			2	803_804	-	Acute lymphoblastic leukemia(166;0.155)		200					Q5SXQ9	Frame_Shift_Ins	INS	ENST00000359600.5	37	c.598_599insGGTCCCTA	CCDS41319.1																																																																																				0.356	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	0	XM_046581		1:45553906
HMMR	3161	broad.mit.edu	37	5	162900464	162900465	+	Frame_Shift_Ins	INS	-	-	ATGACTGAGTATTAAAAAAATAAGG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:162900464_162900465insATGACTGAGTATTAAAAAAATAAGG	ENST00000358715.3	+	9	838_839	c.802_803insATGACTGAGTATTAAAAAAATAAGG	c.(802-804)attfs	p.I268fs	HMMR_ENST00000432118.2_Frame_Shift_Ins_p.I182fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.I269fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.I253fs			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	268					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	GAATGATGAAATTTTAAGCCTT	0.307																																						ENST00000416990.2		NA																	0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(460-462)attfs		hyaluronan-mediated motility receptor (RHAMM)																																				SO:0001589	frameshift_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162900464_162900465insATGACTGAGTATTAAAAAAATAAGG	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	Exception_encountered	5.37:g.162900464_162900465insATGACTGAGTATTAAAAAAATAAGG	ENSP00000351554:p.Ile268fs	True	False		Somatic	0				HMMR_ENST00000393915.4_Frame_Shift_Ins_p.I269fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.I253fs|HMMR_ENST00000358715.3_Frame_Shift_Ins_p.I268fs|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.I182fs	p.I154fs			WXS	Illumina HiSeq	Phase_I	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	9	957_958	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	268					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Frame_Shift_Ins	INS	ENST00000358715.3	37	c.460_461insATGACTGAGTATTAAAAAAATAAGG	CCDS4362.1																																																																																				0.307	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	0	NM_012484		5:162900464
PGBD1	84547	broad.mit.edu	37	6	28269791	28269792	+	In_Frame_Ins	INS	-	-	AAAATA	rs199791488		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:28269791_28269792insAAAATA	ENST00000405948.2	+	7	2580_2581	c.2160_2161insAAAATA	c.(2161-2163)cct>AAAATAcct	p.720_721insKI	PGBD1_ENST00000259883.3_In_Frame_Ins_p.720_721insKI	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	720						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ACGAAGAAATCCCTCAGATAAG	0.416																																						ENST00000405948.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2161-2163)cct>AAAATAcct		piggyBac transposable element derived 1																																				SO:0001652	inframe_insertion	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269791_28269792insAAAATA	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	Exception_encountered	6.37:g.28269791_28269792insAAAATA	ENSP00000385213:p.Ile720_Pro721insLysIle	True	False		Somatic	0				PGBD1_ENST00000259883.3_In_Frame_Ins_p.720_721insKI	p.720_721insKI	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina HiSeq	Phase_I	Q96JS3	PGBD1_HUMAN			7	2580_2581	+			720					Q53F43|Q6NTF5|Q8WWS4	In_Frame_Ins	INS	ENST00000405948.2	37	c.2160_2161insAAAATA	CCDS4648.1																																																																																				0.416	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	0			6:28269791
PGBD1	84547	broad.mit.edu	37	6	28269793	28269794	+	In_Frame_Ins	INS	-	-	CTCTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:28269793_28269794insCTCTCT	ENST00000405948.2	+	7	2582_2583	c.2162_2163insCTCTCT	c.(2161-2166)cctcag>ccCTCTCTtcag	p.721_722PQ>PSLQ	PGBD1_ENST00000259883.3_In_Frame_Ins_p.721_722PQ>PSLQ	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	721						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GAAGAAATCCCTCAGATAAGTC	0.411																																						ENST00000405948.2		NA																	0				endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						c.(2161-2166)cctcag>ccCTCTCTtcag		piggyBac transposable element derived 1																																				SO:0001652	inframe_insertion	84547				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	g.chr6:28269793_28269794insCTCTCT	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	Exception_encountered	6.37:g.28269793_28269794insCTCTCT	ENSP00000385213:p.Pro721_Gln722insSerLeu	True	False		Somatic	0				PGBD1_ENST00000259883.3_In_Frame_Ins_p.721_722PQ>PSLQ	p.721_722PQ>PSLQ	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	WXS	Illumina HiSeq	Phase_I	Q96JS3	PGBD1_HUMAN			7	2582_2583	+			721					Q53F43|Q6NTF5|Q8WWS4	In_Frame_Ins	INS	ENST00000405948.2	37	c.2162_2163insCTCTCT	CCDS4648.1																																																																																				0.411	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2	0			6:28269793
RIMS1	22999	broad.mit.edu	37	6	72968815	72968816	+	Splice_Site	INS	-	-	CAGACAGACTAAAGTGAAGGAACTAAGAGTAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:72968815_72968816insCAGACAGACTAAAGTGAAGGAACTAAGAGTAA	ENST00000521978.1	+	18	3053		c.e18+1		RIMS1_ENST00000538414.1_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000264839.7_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AACAAGACAGGTATTTGTCAAA	0.356																																						ENST00000264839.7		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102						c.e18+1		regulating synaptic membrane exocytosis 1																																				SO:0001630	splice_region_variant	0				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr6:72968815_72968816insCAGACAGACTAAAGTGAAGGAACTAAGAGTAA	AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3053+1->CAGACAGACTAAAGTGAAGGAACTAAGAGTAA	6.37:g.72968815_72968816insCAGACAGACTAAAGTGAAGGAACTAAGAGTAA		False	False		Somatic	0				RIMS1_ENST00000521978.1_Splice_Site|RIMS1_ENST00000520567.1_Splice_Site|RIMS1_ENST00000518273.1_Splice_Site|RIMS1_ENST00000348717.5_Splice_Site|RIMS1_ENST00000517960.1_Splice_Site|RIMS1_ENST00000425662.2_Splice_Site|RIMS1_ENST00000523963.1_Splice_Site|RIMS1_ENST00000401910.3_Splice_Site|RIMS1_ENST00000517827.1_Splice_Site|RIMS1_ENST00000538414.1_Splice_Site|RIMS1_ENST00000522291.1_Splice_Site|RIMS1_ENST00000491071.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q86UR5	RIMS1_HUMAN			18	3053	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	NA					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Splice_Site	INS	ENST00000521978.1	37		CCDS47449.1																																																																																				0.356	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	0		Intron	6:72968815
STIL	6491	broad.mit.edu	37	1	47746438	47746439	+	Frame_Shift_Ins	INS	-	-	TGTCCAGTCT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:47746438_47746439insTGTCCAGTCT	ENST00000360380.3	-	13	2054_2055	c.1691_1692insAGACTGGACA	c.(1690-1692)tctfs	p.-564fs	STIL_ENST00000243182.6_Frame_Shift_Ins_p.-564fs|STIL_ENST00000371877.3_Frame_Shift_Ins_p.-564fs|STIL_ENST00000396221.2_Frame_Shift_Ins_p.-564fs|STIL_ENST00000337817.5_Frame_Shift_Ins_p.-564fs	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus						cell proliferation (GO:0008283)|determination of left/right symmetry (GO:0007368)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|notochord development (GO:0030903)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				GCGGGGCAAGAGAAGACTGCCT	0.426																																						ENST00000360380.3		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36						c.(1690-1692)tctfs		SCL/TAL1 interrupting locus																																				SO:0001589	frameshift_variant	6491				cell proliferation|multicellular organismal development	centrosome|cytosol		g.chr1:47746438_47746439insTGTCCAGTCT	M74558	CCDS548.1, CCDS41329.1, CCDS72785.1, CCDS72786.1	1p32	2010-02-09	2005-11-29	2005-11-29	ENSG00000123473	ENSG00000123473			10879	protein-coding gene	gene with protein product		181590	"""TAL1 (SCL) interrupting locus"""	SIL		2209547	Standard	NM_003035		Approved	MCPH7	uc001crd.1	Q15468	OTTHUMG00000007851	ENST00000360380.3:c.1691_1692insAGACTGGACA	1.37:g.47746438_47746439insTGTCCAGTCT	ENSP00000353544:p.Ser564fs	False	False		Somatic	0				STIL_ENST00000337817.5_Frame_Shift_Ins_p.-564fs|STIL_ENST00000243182.6_Frame_Shift_Ins_p.-564fs|STIL_ENST00000371877.3_Frame_Shift_Ins_p.-564fs|STIL_ENST00000396221.2_Frame_Shift_Ins_p.-564fs	p.-564fs			WXS	Illumina HiSeq	Phase_I	Q15468	STIL_HUMAN			13	2054_2055	-		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)	NA					Q5T0C5|Q68CN9	Frame_Shift_Ins	INS	ENST00000360380.3	37	c.1691_1692insAGACTGGACA	CCDS548.1																																																																																				0.426	STIL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000021649.2	0	NM_003035		1:47746438
CASP8AP2	9994	broad.mit.edu	37	6	90572805	90572806	+	RNA	INS	-	-	GTTATTTCATTCTTGG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:90572805_90572806insGTTATTTCATTCTTGG	ENST00000551025.1	+	0	2814_2815									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGTGGGAAAATACACCTTTAAA	0.342																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1		NA																	0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2																																						9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90572805_90572806insGTTATTTCATTCTTGG	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90572805_90572806insGTTATTTCATTCTTGG		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	2814_2815	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	NA						RNA	INS	ENST00000551025.1	37																																																																																						0.342	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		0	NM_001137667		6:90572805
ASCC3	10973	broad.mit.edu	37	6	101053522	101053523	+	Frame_Shift_Ins	INS	-	-	AGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:101053522_101053523insAGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	ENST00000369162.2	-	33	5442_5443	c.5098_5099insTAAAGTGATAATTATATTGTTTCACATTATATTAAATTCTTCT	c.(5098-5100)aaafs	p.K1700fs		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	1700	Helicase C-terminal 2. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATTACAGCTTTGCCTTGGTCA	0.361																																						ENST00000369162.2		NA																	0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(5098-5100)aaafs		activating signal cointegrator 1 complex subunit 3																																				SO:0001589	frameshift_variant	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101053522_101053523insAGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.5098_5099insTAAAGTGATAATTATATTGTTTCACATTATATTAAATTCTTCT	6.37:g.101053522_101053523insAGAAGAATTTAATATAATGTGAAACAATATAATTATCACTTTA	ENSP00000358159:p.Lys1700fs	True	False		Somatic	0					p.K1700fs	NM_006828.2	NP_006819.2	WXS	Illumina HiSeq	Phase_I	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	33	5442_5443	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	1700			Helicase C-terminal 2.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Frame_Shift_Ins	INS	ENST00000369162.2	37	c.5098_5099insTAAAGTGATAATTATATTGTTTCACATTATATTAAATTCTTCT	CCDS5046.1																																																																																				0.361	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	0	NM_006828		6:101053522
FNDC1	84624	broad.mit.edu	37	6	159655079	159655081	+	In_Frame_Del	DEL	GAC	GAC	-	rs547492676	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:159655079_159655081delGAC	ENST00000297267.9	+	11	3735_3737	c.3535_3537delGAC	c.(3535-3537)gacdel	p.D1180del	FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1180			D -> E (in dbSNP:rs420054). {ECO:0000269|PubMed:11347906, ECO:0000269|PubMed:15489334}.		cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CTCAGCCGAGGACGACGAGGAGG	0.65																																						ENST00000297267.9		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(3535-3537)gacdel		fibronectin type III domain containing 1																																				SO:0001651	inframe_deletion	84624					extracellular region		g.chr6:159655079_159655081delGAC	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.3535_3537delGAC	6.37:g.159655082_159655084delGAC	ENSP00000297267:p.Asp1180del	False	False		Somatic	2				FNDC1_ENST00000340366.6_In_Frame_Del_p.D1117del	p.D1180del	NM_032532.2	NP_115921.2	WXS	Illumina HiSeq	Phase_I	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	3735_3737	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	1180		D -> E (in dbSNP:rs420054).			A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	In_Frame_Del	DEL	ENST00000297267.9	37	c.3535_3537delGAC	CCDS47512.1																																																																																				0.650	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	0	NM_032532		6:159655079
TAX1BP1	8887	broad.mit.edu	37	7	27825110	27825111	+	Splice_Site	INS	-	-	TTTAAAGTTTTAAAATTTTTATTG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:27825110_27825111insTTTAAAGTTTTAAAATTTTTATTG	ENST00000396319.2	+	7	940		c.e7+2		TAX1BP1_ENST00000543117.1_Splice_Site|TAX1BP1_ENST00000409980.1_Splice_Site|TAX1BP1_ENST00000433216.2_Splice_Site|TAX1BP1_ENST00000265393.6_Splice_Site	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1						apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CTTTATAAGGTAATTTATTTTT	0.376																																						ENST00000396319.2		NA																	0				breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.e7+2		Tax1 (human T-cell leukemia virus type I) binding protein 1																																				SO:0001630	splice_region_variant	8887				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding	g.chr7:27825110_27825111insTTTAAAGTTTTAAAATTTTTATTG	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.852+2->TTTAAAGTTTTAAAATTTTTATTG	7.37:g.27825110_27825111insTTTAAAGTTTTAAAATTTTTATTG		True	False		Somatic	0				TAX1BP1_ENST00000409980.1_Splice_Site|TAX1BP1_ENST00000543117.1_Splice_Site|TAX1BP1_ENST00000433216.2_Splice_Site|TAX1BP1_ENST00000265393.6_Splice_Site		NM_006024.6	NP_006015.4	WXS	Illumina HiSeq	Phase_I	Q86VP1	TAXB1_HUMAN	GBM - Glioblastoma multiforme(3;0.0823)		7	940	+			NA					B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Splice_Site	INS	ENST00000396319.2	37		CCDS5415.1																																																																																				0.376	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214142.1	0	NM_006024	Intron	7:27825110
NEXN	91624	broad.mit.edu	37	1	78383958	78383959	+	Splice_Site	INS	-	-	TTCCTAAAA	rs112542707		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:78383958_78383959insTTCCTAAAA	ENST00000334785.7	+	5	631	c.447_447insTTCCTAAAA	c.(448-450)att>atTTCCTAAAAt	p.150_151insS*N	NEXN_ENST00000330010.8_Splice_Site_p.86_87insS*N|NEXN_ENST00000294624.8_Splice_Site_p.149_150insNS*|NEXN_ENST00000457030.1_Splice_Site_p.150_150E>DS*K	NM_144573.3	NP_653174.3			nexilin (F actin binding protein)											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GGGCTGAACAGGTATCACTGAA	0.337																																						ENST00000334785.7		NA																	0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30						c.(448-450)att>atTTCCTAAAAt		nexilin (F actin binding protein)																																				SO:0001630	splice_region_variant	91624				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle	g.chr1:78383958_78383959insTTCCTAAAA	AK057954	CCDS41351.1, CCDS53335.1	1p31.1	2014-09-17			ENSG00000162614	ENSG00000162614		"""Immunoglobulin superfamily / I-set domain containing"""	29557	protein-coding gene	gene with protein product		613121				12053183, 8227983	Standard	NM_144573		Approved	nexilin, NELIN	uc001dic.4	Q0ZGT2	OTTHUMG00000040533	ENST00000334785.7:c.447+1->TTCCTAAAA	1.37:g.78383958_78383959insTTCCTAAAA		False	False		Somatic	0				NEXN_ENST00000294624.8_Splice_Site_p.149_150insNS*|NEXN_ENST00000457030.1_Splice_Site_p.150_150E>DS*K|NEXN_ENST00000330010.8_Splice_Site_p.86_87insS*N	p.150_151insS*N	NM_144573.3	NP_653174.3	WXS	Illumina HiSeq	Phase_I	Q0ZGT2	NEXN_HUMAN		Colorectal(170;0.114)	5	631	+			150			Glu-rich.			Splice_Site	INS	ENST00000334785.7	37	c.447_447insTTCCTAAAA	CCDS41351.1																																																																																				0.337	NEXN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097549.1	0	NM_144573	In_Frame_Ins	1:78383958
RNF32	140545	broad.mit.edu	37	7	156437351	156437352	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156437351_156437352insT	ENST00000405335.1	+	4	583_584	c.174_175insT	c.(175-177)atafs	p.I59fs	RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392741.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	59						aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATACAAAGGCAATAATAGATAC	0.361																																						ENST00000392741.2		NA																	0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(175-177)atafs		ring finger protein 32																																				SO:0001589	frameshift_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437351_156437352insT		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	Exception_encountered	7.37:g.156437351_156437352insT	ENSP00000385285:p.Ile59fs	False	False		Somatic	0				RNF32_ENST00000432459.2_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.I59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.I59fs	p.I59fs			WXS	Illumina HiSeq	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	262_263	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	59					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Ins	INS	ENST00000405335.1	37	c.174_175insT	CCDS5944.1																																																																																				0.361	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	NM_030936		7:156437351
RNF32	140545	broad.mit.edu	37	7	156437352	156437353	+	Frame_Shift_Ins	INS	-	-	TTTAGAGGAGTATTATG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG	ENST00000405335.1	+	4	584_585	c.175_176insTTTAGAGGAGTATTATG	c.(175-177)atafs	p.-59fs	RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392741.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32							aggresome (GO:0016235)|endosome (GO:0005768)	zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TACAAAGGCAATAATAGATACT	0.361																																						ENST00000392741.2		NA																	0				cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15						c.(175-177)atafs		ring finger protein 32																																				SO:0001589	frameshift_variant	140545					aggresome|endosome	protein binding|zinc ion binding	g.chr7:156437352_156437353insTTTAGAGGAGTATTATG		CCDS5944.1	7q36	2013-08-05			ENSG00000105982	ENSG00000105982		"""RING-type (C3HC4) zinc fingers"""	17118	protein-coding gene	gene with protein product		610241				11890671	Standard	NM_001184996		Approved	FKSG33, HSD15, LMBR2	uc003wmr.3	Q9H0A6	OTTHUMG00000151440	Exception_encountered	7.37:g.156437352_156437353insTTTAGAGGAGTATTATG	ENSP00000385285:p.Ile59fs	False	False		Somatic	0				RNF32_ENST00000432459.2_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392740.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000343665.4_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000317955.5_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000311822.8_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000405335.1_Frame_Shift_Ins_p.-59fs|RNF32_ENST00000392743.2_Frame_Shift_Ins_p.-59fs	p.-59fs			WXS	Illumina HiSeq	Phase_I	Q9H0A6	RNF32_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)	2	263_264	+	Ovarian(565;0.218)	all_hematologic(28;0.0592)	NA					Q6FIB3|Q6X7T4|Q8N6V8|Q8TDG0|Q96BM5|Q9Y6U1	Frame_Shift_Ins	INS	ENST00000405335.1	37	c.175_176insTTTAGAGGAGTATTATG	CCDS5944.1																																																																																				0.361	RNF32-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322660.2	0	NM_030936		7:156437352
DOCK5	80005	broad.mit.edu	37	8	25182975	25182976	+	Frame_Shift_Ins	INS	-	-	AATTT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:25182975_25182976insAATTT	ENST00000276440.7	+	18	1859_1860	c.1815_1816insAATTT	c.(1816-1818)ctgfs	p.L606fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	606	DHR-1.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CATCCAAAAACCTGGTCACCTT	0.46																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1816-1818)ctgfs		dedicator of cytokinesis 5																																				SO:0001589	frameshift_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25182975_25182976insAATTT		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	Exception_encountered	8.37:g.25182975_25182976insAATTT	ENSP00000276440:p.Leu606fs	False	False		Somatic	0					p.L606fs	NM_024940.6	NP_079216.4	WXS	Illumina HiSeq	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	18	1859_1860	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	606			DHR-1.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Ins	INS	ENST00000276440.7	37	c.1815_1816insAATTT	CCDS6047.1																																																																																				0.460	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	0	NM_024940		8:25182975
DOCK5	80005	broad.mit.edu	37	8	25182976	25182977	+	Frame_Shift_Ins	INS	-	-	TATCA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:25182976_25182977insTATCA	ENST00000276440.7	+	18	1860_1861	c.1816_1817insTATCA	c.(1816-1818)ctgfs	p.-606fs		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5						positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATCCAAAAACCTGGTCACCTTC	0.46																																					Pancreas(145;34 1887 3271 10937 30165)	ENST00000276440.7		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(1816-1818)ctgfs		dedicator of cytokinesis 5																																				SO:0001589	frameshift_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25182976_25182977insTATCA		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	Exception_encountered	8.37:g.25182976_25182977insTATCA	ENSP00000276440:p.Leu606fs	False	False		Somatic	0					p.-606fs	NM_024940.6	NP_079216.4	WXS	Illumina HiSeq	Phase_I	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	18	1860_1861	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	NA					B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Frame_Shift_Ins	INS	ENST00000276440.7	37	c.1816_1817insTATCA	CCDS6047.1																																																																																				0.460	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	0	NM_024940		8:25182976
WRN	7486	broad.mit.edu	37	8	30938664	30938665	+	In_Frame_Ins	INS	-	-	TTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30938664_30938665insTTC	ENST00000298139.5	+	9	1370_1371	c.1121_1122insTTC	c.(1120-1125)tttgaa>ttTTCtgaa	p.374_375FE>FSE		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	374					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGATGGATTTGAAGATGGAG	0.361			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1120-1125)tttgaa>ttTTCtgaa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001652	inframe_insertion	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30938664_30938665insTTC		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	Exception_encountered	8.37:g.30938664_30938665insTTC	ENSP00000298139:p.Phe374_Glu375insSer	True	False		Somatic	0					p.374_375FE>FSE	NM_000553.4	NP_000544.2	WXS	Illumina HiSeq	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	9	1370_1371	+		Breast(100;0.195)	374					A1KYY9	In_Frame_Ins	INS	ENST00000298139.5	37	c.1121_1122insTTC	CCDS6082.1																																																																																				0.361	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1	0			8:30938664
WRN	7486	broad.mit.edu	37	8	30938666	30938667	+	Frame_Shift_Ins	INS	-	-	AAATATCCTTTAGT			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:30938666_30938667insAAATATCCTTTAGT	ENST00000298139.5	+	9	1372_1373	c.1123_1124insAAATATCCTTTAGT	c.(1123-1125)gaafs	p.-375fs		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like						aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGATGGATTTGAAGATGGAGTA	0.361			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5		NA	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60	GRCh37	CX063757	WRN	X		c.(1123-1125)gaafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like																																				SO:0001589	frameshift_variant	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30938666_30938667insAAATATCCTTTAGT		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	Exception_encountered	8.37:g.30938666_30938667insAAATATCCTTTAGT	ENSP00000298139:p.Glu375fs	False	False		Somatic	0					p.-375fs	NM_000553.4	NP_000544.2	WXS	Illumina HiSeq	Phase_I	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	9	1372_1373	+		Breast(100;0.195)	NA					A1KYY9	Frame_Shift_Ins	INS	ENST00000298139.5	37	c.1123_1124insAAATATCCTTTAGT	CCDS6082.1																																																																																				0.361	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1	0			8:30938666
VCPIP1	80124	broad.mit.edu	37	8	67576975	67576976	+	Frame_Shift_Ins	INS	-	-	AAGTC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:67576975_67576976insAAGTC	ENST00000310421.4	-	1	2476_2477	c.2218_2219insGACTT	c.(2218-2220)aaafs	p.K740fs	C8orf44_ENST00000519561.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	740					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GGGTTGCCCTTTTTGTTCTTGT	0.426																																					NSCLC(179;265 2915 6144 43644)	ENST00000310421.4		NA																	0				breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(2218-2220)aaafs		valosin containing protein (p97)/p47 complex interacting protein 1																																				SO:0001589	frameshift_variant	80124				protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity	g.chr8:67576975_67576976insAAGTC	AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.2218_2219insGACTT	8.37:g.67576975_67576976insAAGTC	ENSP00000309031:p.Lys740fs	True	False		Somatic	0					p.K740fs	NM_025054.4	NP_079330.2	WXS	Illumina HiSeq	Phase_I	Q96JH7	VCIP1_HUMAN	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)		1	2476_2477	-		Lung NSC(129;0.142)|all_lung(136;0.227)	740					Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Ins	INS	ENST00000310421.4	37	c.2218_2219insGACTT	CCDS6192.1																																																																																				0.426	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379227.1	0			8:67576975
SNX16	64089	broad.mit.edu	37	8	82715403	82715404	+	In_Frame_Ins	INS	-	-	GCATAC			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:82715403_82715404insGCATAC	ENST00000345957.4	-	6	1019_1020	c.741_742insGTATGC	c.(739-744)aaacaa>aaaGTATGCcaa	p.247_248KQ>KVCQ	SNX16_ENST00000353788.4_In_Frame_Ins_p.218_219KQ>KVCQ|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000396330.2_In_Frame_Ins_p.247_248KQ>KVCQ	NM_152836.2	NP_690049.1	P57768	SNX16_HUMAN	sorting nexin 16	247					early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622)	early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764)	identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						ATCTCCTTTTGTTTTTCAAGTA	0.342																																						ENST00000353788.4		NA																	0				large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						c.(652-657)aaacaa>aaaGTATGCcaa		sorting nexin 16																																				SO:0001652	inframe_insertion	64089				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding	g.chr8:82715403_82715404insGCATAC	AF305779	CCDS6234.1, CCDS6235.1	8q21.13	2011-05-03			ENSG00000104497	ENSG00000104497		"""Sorting nexins"""	14980	protein-coding gene	gene with protein product		614903				12461558, 12813048	Standard	NM_152837		Approved		uc003ycn.3	P57768	OTTHUMG00000164727	ENST00000345957.4:c.741_742insGTATGC	8.37:g.82715403_82715404insGCATAC	ENSP00000322652:p.Lys247_Gln248insValCys	True	False		Somatic	0				SNX16_ENST00000345957.4_In_Frame_Ins_p.247_248KQ>KVCQ|SNX16_ENST00000396330.2_In_Frame_Ins_p.247_248KQ>KVCQ|RP13-923O23.6_ENST00000524337.1_RNA	p.218_219KQ>KVCQ	NM_152837.2	NP_690050.1	WXS	Illumina HiSeq	Phase_I	P57768	SNX16_HUMAN			5	821_822	-			247			PX.		A8K4D8|Q658L0|Q8N4U3	In_Frame_Ins	INS	ENST00000345957.4	37	c.654_655insGTATGC	CCDS6234.1																																																																																				0.342	SNX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379929.1	0	NM_022133		8:82715403
RFX3	5991	broad.mit.edu	37	9	3271103	3271104	+	Frame_Shift_Ins	INS	-	-	TAATAAATTAGAG			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:3271103_3271104insTAATAAATTAGAG	ENST00000382004.3	-	11	1412_1413	c.1101_1102insCTCTAATTTATTA	c.(1099-1104)gttgttfs	p.V368fs	RFX3_ENST00000358730.2_Frame_Shift_Ins_p.V368fs|RFX3_ENST00000302303.1_Frame_Shift_Ins_p.V368fs	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	368					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		AGATTCACAACAACGTCCAATA	0.376																																						ENST00000382004.3		NA																	0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1099-1104)gttgttfs		regulatory factor X, 3 (influences HLA class II expression)																																				SO:0001589	frameshift_variant	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3271103_3271104insTAATAAATTAGAG	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.1101_1102insCTCTAATTTATTA	9.37:g.3271103_3271104insTAATAAATTAGAG	ENSP00000371434:p.Val368fs	False	False		Somatic	0				RFX3_ENST00000358730.2_Frame_Shift_Ins_p.V368fs|RFX3_ENST00000302303.1_Frame_Shift_Ins_p.V368fs	p.V368fs	NM_134428.1	NP_602304.1	WXS	Illumina HiSeq	Phase_I	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	11	1412_1413	-			368					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Frame_Shift_Ins	INS	ENST00000382004.3	37	c.1101_1102insCTCTAATTTATTA	CCDS6449.1																																																																																				0.376	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	0	NM_002919		9:3271103
JAK2	3717	broad.mit.edu	37	9	5089799	5089800	+	Frame_Shift_Ins	INS	-	-	ACAAA			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:5089799_5089800insACAAA	ENST00000381652.3	+	20	3191_3192	c.2697_2698insACAAA	c.(2698-2700)gaafs	p.E900fs	JAK2_ENST00000539801.1_Frame_Shift_Ins_p.E900fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.E751fs	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	900	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAAGGGAAATTGAAATCCTGAA	0.441		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(2698-2700)gaafs		Janus kinase 2																																				SO:0001589	frameshift_variant	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5089799_5089800insACAAA		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	Exception_encountered	9.37:g.5089799_5089800insACAAA	ENSP00000371067:p.Glu900fs	True	False		Somatic	0				JAK2_ENST00000539801.1_Frame_Shift_Ins_p.E900fs|JAK2_ENST00000544510.1_Frame_Shift_Ins_p.E751fs	p.E900fs	NM_004972.3	NP_004963.1	WXS	Illumina HiSeq	Phase_I	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	20	3191_3192	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	900			Protein kinase 2.		O14636|O75297	Frame_Shift_Ins	INS	ENST00000381652.3	37	c.2697_2698insACAAA	CCDS6457.1																																																																																				0.441	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1	0			9:5089799
PCSK5	5125	broad.mit.edu	37	9	78790149	78790153	+	Intron	DEL	AATGA	AATGA	-	rs4281168	byFrequency	TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	AATGA	AATGA	-	-	AATGA	AATGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:78790149_78790153delAATGA	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Frame_Shift_Del_p.MK669fs	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						aatggaatggaatgaaatggaatgg	0.41																																						ENST00000376767.3		NA																	0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2002-2010)ggaatgaaafs		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790149_78790153delAATGA		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+104AATGA>-	9.37:g.78790149_78790153delAATGA		True	False		Somatic	1				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron	p.MK669fs			WXS	Illumina HiSeq	Phase_I	Q92824	PCSK5_HUMAN			14	2516_2520	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Frame_Shift_Del	DEL	ENST00000545128.1	37	c.2004_2008delAATGA	CCDS55320.1																																																																																				0.410	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0			9:78790149
LEPR	3953	broad.mit.edu	37	1	66036155	66036155	+	Splice_Site	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:66036155G>T	ENST00000349533.6	+	4	225		c.e4-1		LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000462765.1_Splice_Site|LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|snoU13_ENST00000459362.1_RNA	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor						negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)	p.?(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCTAACAGAATTTATTTA	0.299																																						ENST00000349533.6		NA																	2	Unknown(2)	p.?(2)	large_intestine(2)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.e4-1		leptin receptor							42.0	44.0	44.0					1																	66036155		2194	4298	6492	SO:0001630	splice_region_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66036155G>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.41-1G>T	1.37:g.66036155G>T		False	False		Somatic	0				LEPR_ENST00000406510.3_Splice_Site|LEPR_ENST00000371060.3_Splice_Site|LEPR_ENST00000371058.1_Splice_Site|LEPR_ENST00000344610.8_Splice_Site|LEPR_ENST00000371059.3_Splice_Site|LEPR_ENST00000462765.1_Splice_Site		NM_002303.5	NP_002294.2	WXS	Illumina HiSeq	Phase_I	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	4	225	+			NA					Q6FHL5	Splice_Site	SNP	ENST00000349533.6	37		CCDS631.1	.	.	.	.	.	.	.	.	.	.	G	9.738	1.163980	0.21538	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	.	.	.	5.56	5.56	0.83823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0325	0.71720	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LEPR	65808743	1.000000	0.71417	0.995000	0.50966	0.077000	0.17291	5.008000	0.63991	2.619000	0.88677	0.460000	0.39030	.		0.299	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	0	NM_002303	Intron	1:66036155
KCNA10	3744	broad.mit.edu	37	1	111060380	111060380	+	Missense_Mutation	SNP	G	G	A	rs370455162		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:111060380G>A	ENST00000369771.2	-	1	1417	c.1030C>T	c.(1030-1032)Cgc>Tgc	p.R344C		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	344					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|intracellular cyclic nucleotide activated cation channel activity (GO:0005221)	p.R344C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	Dalfampridine(DB06637)	CTCACCAGGCGGATGATCCTC	0.577																																						ENST00000369771.2		NA																	1	Substitution - Missense(1)	p.R344C(1)	lung(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35						c.(1030-1032)Cgc>Tgc		potassium voltage-gated channel, shaker-related subfamily, member 10		G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	135.0	128.0	131.0		1030	5.6	1.0	1		131	0,8600		0,0,4300	no	missense	KCNA10	NM_005549.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	344/512	111060380	1,13005	2203	4300	6503	SO:0001583	missense	3744					voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity	g.chr1:111060380G>A	U96110	CCDS826.1	1p13.1	2012-07-05			ENSG00000143105	ENSG00000143105		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6219	protein-coding gene	gene with protein product		602420				16382104	Standard	NM_005549		Approved	Kv1.8	uc001dzt.1	Q16322	OTTHUMG00000022785	ENST00000369771.2:c.1030C>T	1.37:g.111060380G>A	ENSP00000358786:p.Arg344Cys	False	False		Somatic	0					p.R344C	NM_005549.2	NP_005540.1	WXS	Illumina HiSeq	Phase_I	Q16322	KCA10_HUMAN		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)	1	1417	-		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)	344						Missense_Mutation	SNP	ENST00000369771.2	37	c.1030C>T	CCDS826.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.215244	0.79352	2.27E-4	0.0	ENSG00000143105	ENST00000369771	D	0.99259	-5.64	5.63	5.63	0.86233	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99832	0.9924	H	0.99900	4.915	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96505	0.9374	10	0.87932	D	0	.	18.3064	0.90184	0.0:0.0:1.0:0.0	.	344	Q16322	KCA10_HUMAN	C	344	ENSP00000358786:R344C	ENSP00000358786:R344C	R	-	1	0	KCNA10	110861903	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.505000	0.73708	2.676000	0.91093	0.558000	0.71614	CGC		0.577	KCNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059081.1	0	NM_005549		1:111060380
SDE2	163859	broad.mit.edu	37	1	226180632	226180632	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:226180632G>C	ENST00000272091.7	-	3	328	c.310C>G	c.(310-312)Ctc>Gtc	p.L104V		NM_152608.3	NP_689821.3	Q6IQ49	SDE2_HUMAN	SDE2 telomere maintenance homolog (S. pombe)	104																	CTTCCACTGAGATCCCGACAA	0.433																																						ENST00000272091.7		NA																	0					NA						c.(310-312)Ctc>Gtc		SDE2 telomere maintenance homolog (S. pombe)							95.0	86.0	89.0					1																	226180632		1877	4113	5990	SO:0001583	missense	163859							g.chr1:226180632G>C	BC071563	CCDS41473.1	1q42.12	2012-06-26	2012-06-26	2012-06-26	ENSG00000143751	ENSG00000143751			26643	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 55"""	C1orf55		21333630	Standard	NM_152608		Approved	FLJ35382	uc001hpu.4	Q6IQ49	OTTHUMG00000037504	ENST00000272091.7:c.310C>G	1.37:g.226180632G>C	ENSP00000272091:p.Leu104Val	False	False		Somatic	0					p.L104V	NM_152608.3	NP_689821.3	WXS	Illumina HiSeq	Phase_I					3	328	-			NA					A8K4P3|Q5TD36|Q6ZS26|Q8NAG7	Missense_Mutation	SNP	ENST00000272091.7	37	c.310C>G	CCDS41473.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244837	0.95272	.	.	ENSG00000143751	ENST00000272091;ENST00000366818	D	0.81499	-1.5	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.92928	0.7750	M	0.93328	3.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93870	0.7161	10	0.87932	D	0	-14.709	20.242	0.98377	0.0:0.0:1.0:0.0	.	92;104	Q6IQ49-2;Q6IQ49	.;CA055_HUMAN	V	104;92	ENSP00000272091:L104V	ENSP00000272091:L104V	L	-	1	0	C1orf55	224247255	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.611000	0.74183	2.788000	0.95919	0.650000	0.86243	CTC		0.433	SDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091310.1	0	NM_152608		1:226180632
TMEM132B	114795	broad.mit.edu	37	12	126138387	126138387	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:126138387G>A	ENST00000299308.3	+	9	2376	c.2368G>A	c.(2368-2370)Gaa>Aaa	p.E790K	TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	790						integral component of membrane (GO:0016021)		p.E790K(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTCAAATTCGAACCAAGTAG	0.423																																						ENST00000299308.3		NA																	1	Substitution - Missense(1)	p.E790K(1)	NS(1)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107						c.(2368-2370)Gaa>Aaa		transmembrane protein 132B							88.0	87.0	87.0					12																	126138387		2059	4205	6264	SO:0001583	missense	114795					integral to membrane		g.chr12:126138387G>A	AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2368G>A	12.37:g.126138387G>A	ENSP00000299308:p.Glu790Lys	False	False		Somatic	0				TMEM132B_ENST00000535886.1_Missense_Mutation_p.E302K	p.E790K	NM_052907.2	NP_443139.2	WXS	Illumina HiSeq	Phase_I	Q14DG7	T132B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)	9	2376	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		790					A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	c.2368G>A	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	G	14.92	2.678338	0.47886	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13538	2.58;2.58	5.53	5.53	0.82687	.	0.479442	0.20533	N	0.090474	T	0.11580	0.0282	L	0.34521	1.04	0.40552	D	0.981121	P	0.47106	0.89	B	0.33295	0.161	T	0.10660	-1.0620	10	0.41790	T	0.15	.	19.4753	0.94985	0.0:0.0:1.0:0.0	.	790	Q14DG7	T132B_HUMAN	K	790;302	ENSP00000299308:E790K;ENSP00000440436:E302K	ENSP00000299308:E790K	E	+	1	0	TMEM132B	124704340	1.000000	0.71417	0.343000	0.25615	0.598000	0.36846	6.179000	0.71974	2.596000	0.87737	0.650000	0.86243	GAA		0.423	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	0	NM_052907		12:126138387
RPGR	6103	broad.mit.edu	37	X	38146147	38146147	+	Intron	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:38146147C>T	ENST00000339363.3	-	14	2688				RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000378505.2_Nonsense_Mutation_p.W702*|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator						cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cctcttcttccattcttcctt	0.542																																						ENST00000378505.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(2104-2106)tGg>tAg		retinitis pigmentosa GTPase regulator							181.0	125.0	144.0					X																	38146147		2198	4296	6494	SO:0001627	intron_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38146147C>T	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2520+199G>A	X.37:g.38146147C>T		False	False		Somatic	0				RPGR_ENST00000342811.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000318842.7_Intron	p.W702*	NM_001034853.1	NP_001030025.1	WXS	Illumina HiSeq	Phase_I	Q92834	RPGR_HUMAN			15	2281	-			691			Glu-rich.		B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Nonsense_Mutation	SNP	ENST00000339363.3	37	c.2105G>A		.	.	.	.	.	.	.	.	.	.	c	29.6	5.023005	0.93462	.	.	ENSG00000156313	ENST00000378505	.	.	.	2.23	0.324	0.15898	.	0.110360	0.33457	U	0.004890	.	.	.	.	.	.	0.48135	D	0.999598	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	2.3268	0.04224	0.2406:0.2962:0.0:0.4633	.	.	.	.	X	702	.	ENSP00000367766:W702X	W	-	2	0	RPGR	38031091	0.151000	0.22747	0.075000	0.20258	0.062000	0.15995	0.425000	0.21346	0.201000	0.20466	0.353000	0.21931	TGG		0.542	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_000328		X:38146147
RECQL5	9400	broad.mit.edu	37	17	73624802	73624802	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:73624802G>A	ENST00000317905.5	-	17	2689	c.2530C>T	c.(2530-2532)Ccc>Tcc	p.P844S	RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	844					chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GCAGGGGTGGGCTGGACTTCA	0.652								Other identified genes with known or suspected DNA repair function																														ENST00000317905.5		NA																	0				breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36						c.(2530-2532)Ccc>Tcc	Other identified genes with known or suspected DNA repair function	RecQ protein-like 5							72.0	77.0	75.0					17																	73624802		2031	4188	6219	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73624802G>A	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.2530C>T	17.37:g.73624802G>A	ENSP00000317636:p.Pro844Ser	True	False		Somatic	0				RECQL5_ENST00000443199.2_5'UTR|RECQL5_ENST00000423245.2_Missense_Mutation_p.P817S	p.P844S	NM_004259.6	NP_004250.4	WXS	Illumina HiSeq	Phase_I	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		17	2689	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		844					Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.2530C>T	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.285118	0.23478	.	.	ENSG00000108469	ENST00000443199;ENST00000423245;ENST00000317905	T;T	0.59638	0.25;0.43	5.15	4.19	0.49359	.	1.175340	0.06100	N	0.665238	T	0.48786	0.1519	L	0.35723	1.085	0.47153	D	0.999332	B;B;B	0.22909	0.013;0.013;0.077	B;B;B	0.26094	0.003;0.003;0.066	T	0.12630	-1.0540	10	0.07813	T	0.8	-1.086	11.4825	0.50333	0.0879:0.0:0.9121:0.0	.	844;817;40	O94762;Q6P4G0;Q6FIC9	RECQ5_HUMAN;.;.	S	439;844;844	ENSP00000394820:P844S;ENSP00000317636:P844S	ENSP00000317636:P844S	P	-	1	0	RECQL5	71136397	0.049000	0.20398	0.010000	0.14722	0.558000	0.35554	1.541000	0.36126	1.180000	0.42898	0.563000	0.77884	CCC		0.652	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	0	NM_004259		17:73624802
LPPR4	9890	broad.mit.edu	37	1	99772446	99772446	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:99772446C>T	ENST00000370185.3	+	7	2669	c.2172C>T	c.(2170-2172)cgC>cgT	p.R724R	LPPR4_ENST00000370184.1_Silent_p.R566R|LPPR4_ENST00000457765.1_Silent_p.R666R	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		724					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTTCTTCCCGCGACTCCACCC	0.507																																						ENST00000370185.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(2170-2172)cgC>cgT									60.0	57.0	58.0					1																	99772446		2203	4300	6503	SO:0001819	synonymous_variant	0						phosphatidate phosphatase activity	g.chr1:99772446C>T																												ENST00000370185.3:c.2172C>T	1.37:g.99772446C>T		False	False		Somatic	0				LPPR4_ENST00000457765.1_Silent_p.R666R|LPPR4_ENST00000370184.1_Silent_p.R566R	p.R724R	NM_014839.4	NP_055654.2	WXS	Illumina HiSeq	Phase_I	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2669	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	724					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.2172C>T	CCDS757.1																																																																																				0.507	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2	0			1:99772446
NOL4	8715	broad.mit.edu	37	18	31538336	31538336	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr18:31538336C>G	ENST00000261592.5	-	7	1400	c.1103G>C	c.(1102-1104)aGt>aCt	p.S368T	NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000269185.4_Missense_Mutation_p.S254T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	368						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						TCGGTCTACACTCTCATTTTT	0.443																																						ENST00000261592.5		NA																	0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1102-1104)aGt>aCt		nucleolar protein 4							229.0	204.0	212.0					18																	31538336		2203	4300	6503	SO:0001583	missense	8715					nucleolus	RNA binding	g.chr18:31538336C>G	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.1103G>C	18.37:g.31538336C>G	ENSP00000261592:p.Ser368Thr	False	False		Somatic	0				NOL4_ENST00000269185.4_Missense_Mutation_p.S254T|NOL4_ENST00000538587.1_Missense_Mutation_p.S294T|NOL4_ENST00000589544.1_Missense_Mutation_p.S368T|NOL4_ENST00000535384.1_Missense_Mutation_p.S83T|NOL4_ENST00000535475.1_Missense_Mutation_p.S213T	p.S368T	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	WXS	Illumina HiSeq	Phase_I	O94818	NOL4_HUMAN			7	1400	-			368					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	ENST00000261592.5	37	c.1103G>C	CCDS11907.2	.	.	.	.	.	.	.	.	.	.	C	9.460	1.092768	0.20471	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;T;D;T	0.84442	-1.85;-1.85;-1.29;-1.85;-1.29	5.64	5.64	0.86602	.	0.188941	0.47093	D	0.000242	D	0.83792	0.5331	L	0.40543	1.245	0.41127	D	0.985853	P;B;B;B;B;B;B;B	0.41450	0.75;0.449;0.066;0.136;0.449;0.066;0.017;0.136	B;B;B;B;B;B;B;B	0.42827	0.399;0.215;0.061;0.143;0.143;0.061;0.043;0.061	D	0.84778	0.0771	10	0.54805	T	0.06	-5.3095	19.7023	0.96060	0.0:1.0:0.0:0.0	.	254;117;83;294;368;83;368;213	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	T	368;254;117;83;213;294	ENSP00000261592:S368T;ENSP00000269185:S254T;ENSP00000445733:S83T;ENSP00000438190:S213T;ENSP00000443472:S294T	ENSP00000261592:S368T	S	-	2	0	NOL4	29792334	1.000000	0.71417	0.971000	0.41717	0.099000	0.18886	5.673000	0.68109	2.639000	0.89480	0.557000	0.71058	AGT		0.443	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	0	NM_003787		18:31538336
COL5A2	1290	broad.mit.edu	37	2	189927907	189927907	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:189927907T>A	ENST00000374866.3	-	27	2134	c.1860A>T	c.(1858-1860)aaA>aaT	p.K620N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	620					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACTGCTACCTTTGGGGCCTG	0.502																																						ENST00000374866.3		NA																	0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1858-1860)aaA>aaT		collagen, type V, alpha 2							88.0	101.0	97.0					2																	189927907		2203	4300	6503	SO:0001583	missense	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927907T>A	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1860A>T	2.37:g.189927907T>A	ENSP00000364000:p.Lys620Asn	True	False		Somatic	0					p.K620N	NM_000393.3	NP_000384.2	WXS	Illumina HiSeq	Phase_I	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		27	2134	-			620					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	ENST00000374866.3	37	c.1860A>T	CCDS33350.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.330784	0.60853	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.94184	-3.37	4.57	3.4	0.38934	.	0.000000	0.50627	D	0.000104	D	0.95686	0.8597	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.71674	0.998;0.974	D;P	0.73708	0.981;0.831	D	0.94257	0.7499	9	.	.	.	.	8.2608	0.31783	0.0:0.181:0.0:0.819	.	260;620	Q5PR22;P05997	.;CO5A2_HUMAN	N	620;260	ENSP00000364000:K620N	.	K	-	3	2	COL5A2	189636152	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.183000	0.32041	0.711000	0.32018	0.383000	0.25322	AAA		0.502	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	0	NM_000393		2:189927907
ARHGEF7	8874	broad.mit.edu	37	13	111870079	111870079	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:111870079C>T	ENST00000375741.2	+	6	835	c.585C>T	c.(583-585)ttC>ttT	p.F195F	ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000370623.3_Silent_p.F102F|ARHGEF7_ENST00000375737.5_Silent_p.F92F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	195	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGTTTAACTTCCAGCAGACCA	0.478																																						ENST00000375741.2		NA																	0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41						c.(583-585)ttC>ttT		Rho guanine nucleotide exchange factor (GEF) 7							139.0	128.0	132.0					13																	111870079		2203	4300	6503	SO:0001819	synonymous_variant	8874				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:111870079C>T	D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.585C>T	13.37:g.111870079C>T		False	False		Somatic	0				ARHGEF7_ENST00000375737.5_Silent_p.F92F|ARHGEF7_ENST00000544132.1_5'UTR|ARHGEF7_ENST00000375736.4_Silent_p.F17F|ARHGEF7_ENST00000375723.1_Silent_p.F17F|ARHGEF7_ENST00000218789.5_Silent_p.F17F|ARHGEF7_ENST00000375739.2_Silent_p.F145F|ARHGEF7_ENST00000426073.2_Silent_p.F17F|ARHGEF7_ENST00000317133.5_Silent_p.F174F|ARHGEF7_ENST00000370623.3_Silent_p.F102F	p.F195F	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	WXS	Illumina HiSeq	Phase_I	Q14155	ARHG7_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.188)		6	835	+	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		195			SH3.		B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Silent	SNP	ENST00000375741.2	37	c.585C>T	CCDS45068.1																																																																																				0.478	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_001113511		13:111870079
SYTL4	94121	broad.mit.edu	37	X	99941732	99941732	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:99941732T>C	ENST00000372989.1	-	14	1562	c.1231A>G	c.(1231-1233)Aga>Gga	p.R411G	SYTL4_ENST00000276141.6_Missense_Mutation_p.R411G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R413G|SYTL4_ENST00000455616.1_Missense_Mutation_p.R411G|SYTL4_ENST00000263033.5_Missense_Mutation_p.R411G|SYTL4_ENST00000372981.1_3'UTR	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	411	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CTGGTTTTTCTTTTTCCTTGG	0.443																																						ENST00000455616.1		NA																	0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(1231-1233)Aga>Gga		synaptotagmin-like 4	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						188.0	145.0	160.0					X																	99941732		2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99941732T>C		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1231A>G	X.37:g.99941732T>C	ENSP00000362080:p.Arg411Gly	True	False		Somatic	0				SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.R411G|SYTL4_ENST00000276141.6_Missense_Mutation_p.R411G|SYTL4_ENST00000454200.2_Missense_Mutation_p.R413G|SYTL4_ENST00000372989.1_Missense_Mutation_p.R411G	p.R411G			WXS	Illumina HiSeq	Phase_I	Q96C24	SYTL4_HUMAN			13	1577	-			411			C2 1.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.1231A>G	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	T	19.43	3.826089	0.71143	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.96	3.68	0.42216	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.229523	0.48767	D	0.000180	T	0.81182	0.4769	M	0.92219	3.285	0.47276	D	0.999374	D	0.56746	0.977	P	0.60789	0.879	T	0.81645	-0.0839	9	.	.	.	-6.073	6.8618	0.24072	0.0:0.0987:0.4306:0.4707	.	411	Q96C24	SYTL4_HUMAN	G	411;411;413;411;411	ENSP00000362080:R411G;ENSP00000390252:R411G;ENSP00000403556:R413G;ENSP00000276141:R411G;ENSP00000263033:R411G	.	R	-	1	2	SYTL4	99828388	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	4.264000	0.58859	0.862000	0.35528	0.481000	0.45027	AGA		0.443	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	0	NM_080737		X:99941732
KCNV1	27012	broad.mit.edu	37	8	110984838	110984838	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:110984838C>T	ENST00000524391.1	-	3	1672	c.640G>A	c.(640-642)Gtc>Atc	p.V214I	RP11-696P8.2_ENST00000530667.1_RNA|KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	214					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)	p.V214I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			ATGGAGATGACGCCAAAGATA	0.517																																						ENST00000524391.1		NA																	1	Substitution - Missense(1)	p.V214I(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(640-642)Gtc>Atc		potassium channel, subfamily V, member 1							92.0	84.0	87.0					8																	110984838		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110984838C>T	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.640G>A	8.37:g.110984838C>T	ENSP00000435954:p.Val214Ile	False	False		Somatic	0				KCNV1_ENST00000297404.1_Missense_Mutation_p.V214I	p.V214I			WXS	Illumina HiSeq	Phase_I	Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		3	1672	-	all_neural(195;0.219)		214					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.640G>A	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	0.164	-1.078020	0.01903	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.97328	-4.34;-4.34	5.35	4.35	0.52113	.	0.306903	0.28109	N	0.016564	D	0.88566	0.6471	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.75539	-0.3282	10	0.02654	T	1	.	3.8825	0.09083	0.0:0.6825:0.0:0.3175	.	214	Q6PIU1	KCNV1_HUMAN	I	214;214;90	ENSP00000435954:V214I;ENSP00000297404:V214I	ENSP00000297404:V214I	V	-	1	0	KCNV1	111054014	0.994000	0.37717	0.994000	0.49952	0.610000	0.37248	2.694000	0.47035	2.499000	0.84300	0.557000	0.71058	GTC		0.517	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	0	NM_014379		8:110984838
PBXIP1	57326	broad.mit.edu	37	1	154920764	154920764	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:154920764C>T	ENST00000368463.3	-	6	559	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	163	Poly-Arg.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)	cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCCGGCCCCGCCGTCTCCG	0.687																																						ENST00000368463.3		NA																	0				breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24						c.(487-489)cGg>cAg		pre-B-cell leukemia homeobox interacting protein 1							19.0	19.0	19.0					1																	154920764		2200	4297	6497	SO:0001583	missense	57326				cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	g.chr1:154920764C>T	AF221521	CCDS1074.1	1q22	2008-02-05	2007-01-30		ENSG00000163346	ENSG00000163346			21199	protein-coding gene	gene with protein product			"""pre-B-cell leukemia transcription factor interacting protein 1"""			7505766, 10825160	Standard	NM_020524		Approved	HPIP	uc001ffr.3	Q96AQ6	OTTHUMG00000037369	ENST00000368463.3:c.488G>A	1.37:g.154920764C>T	ENSP00000357448:p.Arg163Gln	True	False		Somatic	0				PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000368460.3_Missense_Mutation_p.R163Q|PBXIP1_ENST00000368465.1_Missense_Mutation_p.R134Q|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R8Q	p.R163Q	NM_020524.2	NP_065385.2	WXS	Illumina HiSeq	Phase_I	Q96AQ6	PBIP1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	559	-	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		163			Poly-Arg.		Q5T174|Q5T176|Q9H8X6|Q9HA02|Q9HD85	Missense_Mutation	SNP	ENST00000368463.3	37	c.488G>A	CCDS1074.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.305987	0.40795	.	.	ENSG00000163346	ENST00000368465;ENST00000368463;ENST00000351146;ENST00000542459;ENST00000368460	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.64	3.73	0.42828	.	0.381252	0.23284	N	0.049879	T	0.07098	0.0180	M	0.65975	2.015	0.25005	N	0.991446	B	0.27498	0.18	B	0.17722	0.019	T	0.18241	-1.0343	10	0.66056	D	0.02	-7.6894	6.8497	0.24008	0.0:0.7955:0.0:0.2045	.	163	Q96AQ6	PBIP1_HUMAN	Q	134;163;163;8;163	ENSP00000357450:R134Q;ENSP00000357448:R163Q;ENSP00000438584:R8Q;ENSP00000357445:R163Q	ENSP00000295523:R163Q	R	-	2	0	PBXIP1	153187388	0.841000	0.29509	0.988000	0.46212	0.773000	0.43773	2.101000	0.41787	1.163000	0.42636	0.563000	0.77884	CGG		0.687	PBXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090943.1	0	NM_020524		1:154920764
KIAA1045	23349	broad.mit.edu	37	9	34976561	34976561	+	Missense_Mutation	SNP	C	C	T	rs372732529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr9:34976561C>T	ENST00000242315.3	+	5	755	c.673C>T	c.(673-675)Cgt>Tgt	p.R225C	KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	225							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			GGACTTTCTGCGTTACCGCCA	0.647																																						ENST00000242315.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(673-675)Cgt>Tgt		KIAA1045		C	CYS/ARG	0,4220		0,0,2110	34.0	41.0	39.0		673	4.9	1.0	9		39	1,8445		0,1,4222	no	missense	KIAA1045	NM_015297.1	180	0,1,6332	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	225/401	34976561	1,12665	2110	4223	6333	SO:0001583	missense	23349						calcium ion binding	g.chr9:34976561C>T	AB028968	CCDS43796.1	9p13.2	2008-02-05			ENSG00000122733	ENSG00000122733			29180	protein-coding gene	gene with protein product						10470851	Standard	NM_015297		Approved		uc003zvr.3	Q9UPV7	OTTHUMG00000019844	ENST00000242315.3:c.673C>T	9.37:g.34976561C>T	ENSP00000242315:p.Arg225Cys	False	False		Somatic	0				KIAA1045_ENST00000544237.1_Missense_Mutation_p.R225C|KIAA1045_ENST00000476115.2_3'UTR	p.R225C	NM_015297.1	NP_056112.1	WXS	Illumina HiSeq	Phase_I	Q9UPV7	K1045_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00575)		5	755	+			225					B7Z253|Q58FE9|Q5T662	Missense_Mutation	SNP	ENST00000242315.3	37	c.673C>T	CCDS43796.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.906243	0.92107	0.0	1.18E-4	ENSG00000122733	ENST00000544237;ENST00000242315	T;T	0.21932	1.98;1.98	4.92	4.92	0.64577	EF-hand-like domain (1);	0.137454	0.51477	D	0.000087	T	0.27278	0.0669	N	0.24115	0.695	0.54753	D	0.999985	D	0.76494	0.999	P	0.56700	0.804	T	0.03829	-1.1000	10	0.66056	D	0.02	.	15.2674	0.73672	0.0:1.0:0.0:0.0	.	225	Q9UPV7	K1045_HUMAN	C	225	ENSP00000444138:R225C;ENSP00000242315:R225C	ENSP00000242315:R225C	R	+	1	0	KIAA1045	34966561	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.116000	0.57871	2.282000	0.76494	0.561000	0.74099	CGT		0.647	KIAA1045-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052256.2	0	XM_048592		9:34976561
TAGLN2	8407	broad.mit.edu	37	1	159888604	159888604	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:159888604G>A	ENST00000368097.4	-	5	896	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C|TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	196					epithelial cell differentiation (GO:0030855)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)				endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGATCTGGCGTGGCATCCCG	0.552																																						ENST00000368097.4		NA																	0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(586-588)Cgc>Tgc		transgelin 2							73.0	71.0	72.0					1																	159888604		2203	4300	6503	SO:0001583	missense	8407				muscle organ development	nuclear membrane|plasma membrane	protein binding	g.chr1:159888604G>A	D21261	CCDS1189.1, CCDS60314.1	1q21-q25	2008-07-18			ENSG00000158710	ENSG00000158710			11554	protein-coding gene	gene with protein product	"""SM22-alpha homolog"""	604634				9693045	Standard	NM_001277223		Approved	KIAA0120, HA1756	uc031pqu.1	P37802	OTTHUMG00000022793	ENST00000368097.4:c.586C>T	1.37:g.159888604G>A	ENSP00000357077:p.Arg196Cys	False	False		Somatic	0				TAGLN2_ENST00000368096.1_Missense_Mutation_p.R217C|TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.R196C	p.R196C	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	WXS	Illumina HiSeq	Phase_I	P37802	TAGL2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	896	-	all_hematologic(112;0.0597)		196					E9KL39|Q5JRQ6|Q5JRQ7|Q6FGI1|Q9BUH5|Q9H4P0	Missense_Mutation	SNP	ENST00000368097.4	37	c.586C>T	CCDS1189.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724566	0.68959	.	.	ENSG00000158710	ENST00000368097;ENST00000368096;ENST00000320307	D;D;D	0.91631	-2.88;-2.88;-2.88	4.65	2.68	0.31781	Calponin homology domain (1);	0.407364	0.15695	U	0.249233	D	0.92945	0.7755	H	0.97611	4.04	0.58432	D	0.999999	P	0.39060	0.657	B	0.40228	0.323	D	0.92678	0.6156	9	.	.	.	-12.6358	10.6602	0.45698	0.0:0.0:0.4966:0.5034	.	196	P37802	TAGL2_HUMAN	C	196;217;196	ENSP00000357077:R196C;ENSP00000357076:R217C;ENSP00000357075:R196C	.	R	-	1	0	TAGLN2	158155228	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	3.226000	0.51254	0.628000	0.30357	0.655000	0.94253	CGC		0.552	TAGLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059105.1	0	NM_003564		1:159888604
FFAR3	2865	broad.mit.edu	37	19	35850606	35850606	+	Missense_Mutation	SNP	G	G	A	rs369542605		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr19:35850606G>A	ENST00000327809.4	+	2	1015	c.814G>A	c.(814-816)Gac>Aac	p.D272N	FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	272					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to fatty acid (GO:0071398)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|mucosal immune response (GO:0002385)|negative regulation of blood pressure (GO:0045776)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|regulation of hormone biosynthetic process (GO:0046885)|regulation of norepinephrine secretion (GO:0014061)|regulation of peptide hormone secretion (GO:0090276)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTCCTGTGTCGACCCCTTTGT	0.592																																					Esophageal Squamous(185;1742 2042 21963 24215 27871)	ENST00000327809.4		NA																	0				endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17						c.(814-816)Gac>Aac		free fatty acid receptor 3		G	ASN/ASP	0,4402		0,0,2201	173.0	126.0	142.0		814	5.1	0.9	19		142	1,8591	1.2+/-3.3	0,1,4295	no	missense	FFAR3	NM_005304.3	23	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	272/347	35850606	1,12993	2201	4296	6497	SO:0001583	missense	2865					integral to plasma membrane	G-protein coupled receptor activity|lipid binding	g.chr19:35850606G>A	AF024688	CCDS12459.1	19q13.1	2012-08-08	2006-02-15	2006-02-15	ENSG00000185897	ENSG00000185897		"""GPCR / Class A : Fatty acid receptors"""	4499	protein-coding gene	gene with protein product		603821	"""G protein-coupled receptor 41"""	GPR41		9344866, 22493486	Standard	NM_005304		Approved	FFA3R	uc002nzd.3	O14843	OTTHUMG00000172514	ENST00000327809.4:c.814G>A	19.37:g.35850606G>A	ENSP00000328230:p.Asp272Asn	False	False		Somatic	0				FFAR3_ENST00000594310.1_Missense_Mutation_p.D272N	p.D272N	NM_005304.3	NP_005295.1	WXS	Illumina HiSeq	Phase_I	O14843	FFAR3_HUMAN	Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)		2	1015	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		272					B2RWM8|Q14CM7	Missense_Mutation	SNP	ENST00000327809.4	37	c.814G>A	CCDS12459.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111399	0.56398	0.0	1.16E-4	ENSG00000185897	ENST00000327809	T	0.53857	0.6	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	U	0.000000	T	0.65606	0.2707	L	0.51422	1.61	0.43122	D	0.994846	D	0.89917	1.0	D	0.91635	0.999	T	0.60352	-0.7280	10	0.20519	T	0.43	-29.2285	16.0595	0.80830	0.0:0.0:1.0:0.0	.	272	O14843	FFAR3_HUMAN	N	272	ENSP00000328230:D272N	ENSP00000328230:D272N	D	+	1	0	FFAR3	40542446	1.000000	0.71417	0.937000	0.37676	0.153000	0.21895	6.728000	0.74769	2.385000	0.81259	0.455000	0.32223	GAC		0.592	FFAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418873.2	0	NM_005304		19:35850606
COLQ	8292	broad.mit.edu	37	3	15495398	15495398	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr3:15495398C>A	ENST00000383788.5	-	16	1361	c.1236G>T	c.(1234-1236)gaG>gaT	p.E412D	COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000383785.2_3'UTR|EAF1-AS1_ENST00000608408.1_RNA|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D	NM_005677.3	NP_005668.2	Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	412					acetylcholine catabolic process in synaptic cleft (GO:0001507)|asymmetric protein localization (GO:0008105)	basal lamina (GO:0005605)|cell junction (GO:0030054)|collagen trimer (GO:0005581)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTCCACACCCTCATGCCGGT	0.587																																						ENST00000383788.5		NA																	0				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						c.(1234-1236)gaG>gaT		collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase							172.0	135.0	147.0					3																	15495398		2203	4300	6503	SO:0001583	missense	8292				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft		g.chr3:15495398C>A	AF057036	CCDS33709.1, CCDS43057.1, CCDS46768.1	3p	2008-07-18			ENSG00000206561	ENSG00000206561			2226	protein-coding gene	gene with protein product	"""single strand of homotrimeric collagen-like tail subunit of asymmetric acetylcholinesterase"", ""collagenic tail of endplate acetylcholinesterase"", ""AChE Q subunit"", ""acetylcholinesterase-associated collagen"""	603033				9689136	Standard	NM_005677		Approved	EAD	uc003bzx.3	Q9Y215	OTTHUMG00000156233	ENST00000383788.5:c.1236G>T	3.37:g.15495398C>A	ENSP00000373298:p.Glu412Asp	True	False		Somatic	0				COLQ_ENST00000383787.2_Missense_Mutation_p.E403D|COLQ_ENST00000383786.5_Missense_Mutation_p.E378D|COLQ_ENST00000383781.4_Missense_Mutation_p.E402D|COLQ_ENST00000435459.2_Missense_Mutation_p.E402D|COLQ_ENST00000603808.1_Missense_Mutation_p.E413D|COLQ_ENST00000383785.2_3'UTR	p.E412D	NM_005677.3	NP_005668.2	WXS	Illumina HiSeq	Phase_I	Q9Y215	COLQ_HUMAN			16	1361	-			412					B3KY09|Q6DK18|Q6YH18|Q6YH19|Q6YH20|Q6YH21|Q9NP18|Q9NP19|Q9NP20|Q9NP21|Q9NP22|Q9NP23|Q9NP24|Q9UP88	Missense_Mutation	SNP	ENST00000383788.5	37	c.1236G>T	CCDS33709.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563678	0.27915	.	.	ENSG00000206561	ENST00000383787;ENST00000383781;ENST00000435459;ENST00000383788;ENST00000420589;ENST00000454772;ENST00000383786	D;D;D;D;D	0.91295	-2.64;-2.82;-2.77;-2.77;-2.79	5.3	2.12	0.27331	.	0.637835	0.16393	N	0.216367	D	0.87767	0.6260	L	0.48642	1.525	0.80722	D	1	P;B;P;P	0.44044	0.683;0.024;0.555;0.825	B;B;B;P	0.46026	0.212;0.033;0.17;0.501	D	0.84958	0.0875	10	0.72032	D	0.01	0.0611	7.265	0.26224	0.0:0.5012:0.0:0.4988	.	378;403;412;402	Q9Y215-3;Q9Y215-5;Q9Y215;Q9Y215-2	.;.;COLQ_HUMAN;.	D	403;402;402;412;402;413;378	ENSP00000373297:E403D;ENSP00000373291:E402D;ENSP00000402511:E402D;ENSP00000373298:E412D;ENSP00000373296:E378D	ENSP00000373291:E402D	E	-	3	2	COLQ	15470402	0.005000	0.15991	0.679000	0.29978	0.987000	0.75469	-0.179000	0.09768	0.637000	0.30526	-0.369000	0.07265	GAG		0.587	COLQ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343575.1	0	NM_005677		3:15495398
SIGLEC1	6614	broad.mit.edu	37	20	3670268	3670268	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr20:3670268A>G	ENST00000344754.4	-	19	4975	c.4976T>C	c.(4975-4977)cTg>cCg	p.L1659P	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1659					cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGGCCCCCAGGCCCAACAG	0.652																																						ENST00000344754.4		NA																	0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(4975-4977)cTg>cCg		sialic acid binding Ig-like lectin 1, sialoadhesin							15.0	14.0	15.0					20																	3670268		2182	4285	6467	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3670268A>G	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4976T>C	20.37:g.3670268A>G	ENSP00000341141:p.Leu1659Pro	True	False		Somatic	0				SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1659P	p.L1659P	NM_023068.3	NP_075556.1	WXS	Illumina HiSeq	Phase_I	Q9BZZ2	SN_HUMAN			19	4975	-			1659					Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.4976T>C	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	A	14.89	2.670089	0.47677	.	.	ENSG00000088827	ENST00000344754;ENST00000202578	T;T	0.27104	1.72;1.69	5.39	5.39	0.77823	.	0.000000	0.30060	N	0.010502	T	0.37293	0.0998	L	0.34521	1.04	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.987	T	0.05733	-1.0867	10	0.28530	T	0.3	.	12.0747	0.53636	1.0:0.0:0.0:0.0	.	1659;1659	Q9BZZ2;Q9BZZ2-3	SN_HUMAN;.	P	1659	ENSP00000341141:L1659P;ENSP00000202578:L1659P	ENSP00000202578:L1659P	L	-	2	0	SIGLEC1	3618268	0.998000	0.40836	1.000000	0.80357	0.103000	0.19146	4.194000	0.58393	2.162000	0.67917	0.533000	0.62120	CTG		0.652	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	0	NM_023068		20:3670268
ZFHX4	79776	broad.mit.edu	37	8	77766675	77766675	+	Silent	SNP	A	A	G			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr8:77766675A>G	ENST00000521891.2	+	10	7966	c.7518A>G	c.(7516-7518)gaA>gaG	p.E2506E	ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000455469.2_Silent_p.E2461E|ZFHX4_ENST00000050961.6_Silent_p.E2461E	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2461					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAACTCTGGAACTCTGGCAGG	0.478										HNSCC(33;0.089)																												ENST00000521891.2		NA																	0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(7516-7518)gaA>gaG		zinc finger homeobox 4							176.0	183.0	181.0					8																	77766675		2060	4226	6286	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77766675A>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.7518A>G	8.37:g.77766675A>G		True	False	HNSCC(33;0.089)	Somatic	0				ZFHX4_ENST00000455469.2_Silent_p.E2461E|ZFHX4_ENST00000518282.1_Silent_p.E2480E|ZFHX4_ENST00000050961.6_Silent_p.E2461E	p.E2506E	NM_024721.4	NP_078997.4	WXS	Illumina HiSeq	Phase_I	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	7966	+			2461					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.7518A>G	CCDS47878.2																																																																																				0.478	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	0	NM_024721		8:77766675
AGAP1	116987	broad.mit.edu	37	2	236957825	236957825	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:236957825G>A	ENST00000304032.8	+	16	2594	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	672	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				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						CTGGCCAGTCGAGCTCATCAA	0.582																																						ENST00000304032.8		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.(2014-2016)Gag>Aag		ArfGAP with GTPase domain, ankyrin repeat and PH domain 1							115.0	106.0	109.0					2																	236957825		2203	4300	6503	SO:0001583	missense	116987				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding	g.chr2:236957825G>A	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	ENST00000304032.8:c.2014G>A	2.37:g.236957825G>A	ENSP00000307634:p.Glu672Lys	False	False		Somatic	0				AGAP1_ENST00000428334.2_Missense_Mutation_p.E511K|AGAP1_ENST00000336665.5_Missense_Mutation_p.E619K|AGAP1_ENST00000409538.1_Missense_Mutation_p.E884K	p.E672K	NM_001037131.2	NP_001032208.1	WXS	Illumina HiSeq	Phase_I	Q9UPQ3	AGAP1_HUMAN			16	2594	+			NA			Arf-GAP.		B2RTX7|Q541S5|Q6P9D7|Q9NV93	Missense_Mutation	SNP	ENST00000304032.8	37	c.2014G>A	CCDS33408.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.882175|5.882175	0.97062|0.97062	.|.	.|.	ENSG00000157985|ENSG00000157985	ENST00000304032;ENST00000336665;ENST00000409538;ENST00000428334|ENST00000418654;ENST00000453371	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.81772|0.81772	0.4893|0.4893	M|M	0.81239|0.81239	2.535|2.535	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.80764|.	0.992;0.994|.	T|T	0.82232|0.82232	-0.0559|-0.0559	10|5	0.56958|.	D|.	0.05|.	.|.	19.3968|19.3968	0.94610|0.94610	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	619;672|.	Q9UPQ3-2;Q9UPQ3|.	.;AGAP1_HUMAN|.	K|Q	672;619;884;511|224;73	ENSP00000307634:E672K;ENSP00000338378:E619K;ENSP00000386897:E884K;ENSP00000411824:E511K|.	ENSP00000307634:E672K|.	E|R	+|+	1|2	0|0	AGAP1|AGAP1	236622564|236622564	1.000000|1.000000	0.71417|0.71417	0.954000|0.954000	0.39281|0.39281	0.981000|0.981000	0.71138|0.71138	9.722000|9.722000	0.98770|0.98770	2.565000|2.565000	0.86533|0.86533	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.582	AGAP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257076.2	0	NM_014914		2:236957825
DROSHA	29102	broad.mit.edu	37	5	31526591	31526591	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:31526591G>A	ENST00000511367.2	-	4	693	c.449C>T	c.(448-450)tCc>tTc	p.S150F	DROSHA_ENST00000344624.3_Missense_Mutation_p.S150F|DROSHA_ENST00000504361.1_5'Flank|DROSHA_ENST00000513349.1_Missense_Mutation_p.S150F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S150F	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	150	Pro-rich.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|miRNA metabolic process (GO:0010586)|pre-miRNA processing (GO:0031054)|primary miRNA processing (GO:0031053)|ribosome biogenesis (GO:0042254)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA catabolic process (GO:0016075)	nucleoplasm (GO:0005654)	lipopolysaccharide binding (GO:0001530)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonuclease III activity (GO:0004525)			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						ATGAGGCATGGAGGGAGGGGG	0.572																																						ENST00000511367.2		NA																	0				breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						c.(448-450)tCc>tTc		drosha, ribonuclease type III							18.0	20.0	19.0					5																	31526591		1886	4105	5991	SO:0001583	missense	29102				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	g.chr5:31526591G>A	AF116910	CCDS47194.1, CCDS47195.1	5q11.2	2010-11-17	2010-10-28	2010-10-28	ENSG00000113360	ENSG00000113360	3.1.26.3		17904	protein-coding gene	gene with protein product	"""drosha, ribonuclease type III"", ""drosha, double-stranded RNA-specific endoribonuclease"""	608828	"""ribonuclease type III, nuclear"""	RNASEN		10713462, 10948199	Standard	NM_013235		Approved	RNASE3L, Etohi2, HSA242976, RN3	uc003jhg.2	Q9NRR4	OTTHUMG00000161976	ENST00000511367.2:c.449C>T	5.37:g.31526591G>A	ENSP00000425979:p.Ser150Phe	True	False		Somatic	0				DROSHA_ENST00000513349.1_Missense_Mutation_p.S150F|DROSHA_ENST00000442743.1_Missense_Mutation_p.S150F|DROSHA_ENST00000344624.3_Missense_Mutation_p.S150F	p.S150F	NM_013235.4	NP_037367.3	WXS	Illumina HiSeq	Phase_I	Q9NRR4	RNC_HUMAN			4	693	-			150			Pro-rich.		E7EMP9|Q7Z5V2|Q86YH0|Q9NW73|Q9Y2V9|Q9Y4Y0	Missense_Mutation	SNP	ENST00000511367.2	37	c.449C>T	CCDS47195.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832994	0.32421	.	.	ENSG00000113360	ENST00000511367;ENST00000344624;ENST00000442743;ENST00000513349;ENST00000265075;ENST00000382188;ENST00000507438	T;T;T;T;T	0.48522	1.4;1.4;0.83;0.83;0.81	5.12	5.12	0.69794	.	0.382752	0.27691	N	0.018257	T	0.39682	0.1087	N	0.14661	0.345	0.27987	N	0.935818	P;P;P	0.43094	0.799;0.553;0.553	P;B;B	0.44990	0.466;0.205;0.205	T	0.41805	-0.9488	10	0.62326	D	0.03	-17.0111	16.7608	0.85511	0.0:0.0:1.0:0.0	.	150;150;150	Q9NRR4-2;E7EMP9;Q9NRR4	.;.;RNC_HUMAN	F	150;150;150;150;143;143;150	ENSP00000425979:S150F;ENSP00000339845:S150F;ENSP00000409335:S150F;ENSP00000424161:S150F;ENSP00000430921:S150F	ENSP00000265075:S143F	S	-	2	0	DROSHA	31562348	0.998000	0.40836	0.835000	0.33067	0.747000	0.42532	5.275000	0.65575	2.366000	0.80165	0.655000	0.94253	TCC		0.572	DROSHA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366561.3	0	NM_013235		5:31526591
MADD	8567	broad.mit.edu	37	11	47296667	47296667	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr11:47296667C>T	ENST00000311027.5	+	3	781	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	MADD_ENST00000342922.4_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CTGTAGTGAGCGCCTTCTGGG	0.522																																						ENST00000342922.4		NA																	0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(616-618)Cgc>Tgc		MAP-kinase activating death domain							78.0	80.0	79.0					11																	47296667		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47296667C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.616C>T	11.37:g.47296667C>T	ENSP00000310933:p.Arg206Cys	False	False		Somatic	0				MADD_ENST00000395344.3_Missense_Mutation_p.R206C|MADD_ENST00000402192.2_Missense_Mutation_p.R206C|MADD_ENST00000402799.1_Missense_Mutation_p.R206C|MADD_ENST00000395336.3_Missense_Mutation_p.R206C|MADD_ENST00000349238.3_Missense_Mutation_p.R206C|MADD_ENST00000311027.5_Missense_Mutation_p.R206C|MADD_ENST00000407859.3_Missense_Mutation_p.R206C|MADD_ENST00000406482.1_Missense_Mutation_p.R206C	p.R206C	NM_130470.2	NP_569826.2	WXS	Illumina HiSeq	Phase_I	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	3	973	+			206			DENN.			Missense_Mutation	SNP	ENST00000311027.5	37	c.616C>T	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	19.75	3.885704	0.72410	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.07908	3.26;3.15;3.15;3.26;3.27;3.17;3.16;3.26;3.26	5.81	3.84	0.44239	DENN (3);	0.057038	0.64402	D	0.000002	T	0.27731	0.0682	M	0.73598	2.24	0.80722	D	1	D;P;D;D;D;D;D;D;D;D	0.89917	1.0;0.948;1.0;0.999;1.0;0.999;1.0;1.0;1.0;1.0	D;P;D;D;D;D;D;D;D;D	0.91635	0.994;0.791;0.992;0.981;0.981;0.981;0.988;0.999;0.993;0.988	T	0.02661	-1.1127	9	.	.	.	-6.6138	14.1753	0.65537	0.487:0.513:0.0:0.0	.	206;206;206;206;206;206;206;206;206;206	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	C	206	ENSP00000343902:R206C;ENSP00000385585:R206C;ENSP00000384435:R206C;ENSP00000304505:R206C;ENSP00000310933:R206C;ENSP00000384204:R206C;ENSP00000378753:R206C;ENSP00000378745:R206C;ENSP00000384287:R206C	.	R	+	1	0	MADD	47253243	1.000000	0.71417	0.788000	0.31933	0.970000	0.65996	3.083000	0.50136	1.409000	0.46915	0.655000	0.94253	CGC		0.522	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1	0			11:47296667
CBS	875	broad.mit.edu	37	21	44479374	44479374	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr21:44479374G>A	ENST00000398165.3	-	13	1444	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	CBS_ENST00000359624.3_Silent_p.G395G|CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000398168.1_Silent_p.G395G	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	395					cellular nitrogen compound metabolic process (GO:0034641)|cysteine biosynthetic process from serine (GO:0006535)|cysteine biosynthetic process via cystathionine (GO:0019343)|homocysteine catabolic process (GO:0043418)|homocysteine metabolic process (GO:0050667)|hydrogen sulfide biosynthetic process (GO:0070814)|L-cysteine catabolic process (GO:0019448)|L-serine catabolic process (GO:0006565)|L-serine metabolic process (GO:0006563)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|transsulfuration (GO:0019346)	cytosol (GO:0005829)|nucleus (GO:0005634)	adenyl nucleotide binding (GO:0030554)|cystathionine beta-synthase activity (GO:0004122)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|modified amino acid binding (GO:0072341)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|S-Adenosylmethionine(DB00118)	CCTTCAGAAAGCCCTTCTGCA	0.677																																						ENST00000398165.3		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17						c.(1183-1185)ggC>ggT		cystathionine-beta-synthase	L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)						73.0	72.0	72.0					21																	44479374		2203	4300	6503	SO:0001819	synonymous_variant	875				cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding	g.chr21:44479374G>A	L14577	CCDS13693.1	21q22.3	2014-09-17			ENSG00000160200	ENSG00000160200	4.2.1.22		1550	protein-coding gene	gene with protein product		613381				9790750	Standard	NM_000071		Approved	HIP4	uc002zcv.2	P35520	OTTHUMG00000086834	ENST00000398165.3:c.1185C>T	21.37:g.44479374G>A		True	False		Somatic	0				CBS_ENST00000544202.1_Silent_p.G307G|CBS_ENST00000398168.1_Silent_p.G395G|CBS_ENST00000398158.1_Silent_p.G395G|CBS_ENST00000352178.5_Silent_p.G395G|CBS_ENST00000359624.3_Silent_p.G395G	p.G395G	NM_000071.2	NP_000062.1	WXS	Illumina HiSeq	Phase_I	P35520	CBS_HUMAN			13	1444	-			395					B2R993|D3DSK4|Q99425|Q9BWC5	Silent	SNP	ENST00000398165.3	37	c.1185C>T	CCDS13693.1	.	.	.	.	.	.	.	.	.	.	G	6.771	0.511235	0.12883	.	.	ENSG00000160200	ENST00000430013	.	.	.	4.63	2.54	0.30619	.	.	.	.	.	T	0.44329	0.1288	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33292	-0.9874	4	.	.	.	-36.0301	2.2239	0.03979	0.108:0.212:0.462:0.2179	.	.	.	.	V	49	.	.	A	-	2	0	CBS	43352443	0.981000	0.34729	1.000000	0.80357	0.499000	0.33736	0.337000	0.19841	0.911000	0.36747	0.563000	0.77884	GCT		0.677	CBS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195525.1	0	NM_000071		21:44479374
HS3ST3B1	9953	broad.mit.edu	37	17	14205111	14205111	+	Silent	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:14205111G>A	ENST00000360954.2	+	1	712	c.276G>A	c.(274-276)gcG>gcA	p.A92A	RP11-214O1.2_ENST00000583262.1_lincRNA	NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	92					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGTTCCGGGCGCCGCCAGCCA	0.751																																						ENST00000360954.2		NA																	0				large_intestine(3)|lung(3)|skin(1)	7						c.(274-276)gcG>gcA		heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1							2.0	4.0	3.0					17																	14205111		1835	3713	5548	SO:0001819	synonymous_variant	9953				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	g.chr17:14205111G>A	AF105377	CCDS11167.1	17p12	2007-04-02			ENSG00000125430	ENSG00000125430	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5198	protein-coding gene	gene with protein product		604058				9988767	Standard	NM_006041		Approved	3OST3B1, 30ST3B1	uc002goh.1	Q9Y662	OTTHUMG00000058810	ENST00000360954.2:c.276G>A	17.37:g.14205111G>A		False	False		Somatic	0					p.A92A	NM_006041.1	NP_006032.1	WXS	Illumina HiSeq	Phase_I	Q9Y662	HS3SB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)	1	712	+			92					B3KN58|D3DTS6	Silent	SNP	ENST00000360954.2	37	c.276G>A	CCDS11167.1																																																																																				0.751	HS3ST3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129998.1	0	NM_006041		17:14205111
ABCA10	10349	broad.mit.edu	37	17	67187404	67187404	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr17:67187404G>T	ENST00000269081.4	-	18	2833	c.1924C>A	c.(1924-1926)Cag>Aag	p.Q642K	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	642					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGAATGTGCTGCTTAATAAGG	0.343																																						ENST00000269081.4		NA																	0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(1924-1926)Cag>Aag		ATP-binding cassette, sub-family A (ABC1), member 10							152.0	140.0	144.0					17																	67187404		2202	4299	6501	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67187404G>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.1924C>A	17.37:g.67187404G>T	ENSP00000269081:p.Gln642Lys	False	False		Somatic	0				ABCA10_ENST00000416101.2_3'UTR	p.Q642K	NM_080282.3	NP_525021.3	WXS	Illumina HiSeq	Phase_I	Q8WWZ4	ABCAA_HUMAN			18	2833	-	Breast(10;6.95e-12)		642					C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.1924C>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	g	10.73	1.433378	0.25813	.	.	ENSG00000154263	ENST00000269081	T	0.81415	-1.49	2.99	2.99	0.34606	.	0.286451	0.18456	U	0.140682	T	0.69124	0.3076	L	0.27944	0.81	0.80722	D	1	B;B	0.16396	0.01;0.017	B;B	0.18561	0.015;0.022	T	0.66779	-0.5837	10	0.42905	T	0.14	.	12.0772	0.53652	0.0:0.1744:0.8256:0.0	.	642;642	E5RFN6;Q8WWZ4	.;ABCAA_HUMAN	K	642	ENSP00000269081:Q642K	ENSP00000269081:Q642K	Q	-	1	0	ABCA10	64698999	0.991000	0.36638	0.091000	0.20842	0.023000	0.10783	3.788000	0.55446	1.664000	0.50801	0.563000	0.77884	CAG		0.343	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	0	NM_080282		17:67187404
KCNA1	3736	broad.mit.edu	37	12	5021748	5021748	+	Silent	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:5021748C>T	ENST00000382545.3	+	2	2311	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	402					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	AACAATTGCCCTGCCCGTACC	0.517																																						ENST00000382545.3		NA																	0				NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(1204-1206)Ctg>Ttg		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						326.0	313.0	317.0					12																	5021748		2203	4300	6503	SO:0001819	synonymous_variant	3736				synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity	g.chr12:5021748C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.1204C>T	12.37:g.5021748C>T		True	False		Somatic	0				KCNA1_ENST00000543874.2_Intron	p.L402L	NM_000217.2	NP_000208.2	WXS	Illumina HiSeq	Phase_I	Q09470	KCNA1_HUMAN			2	2311	+			402					A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	37	c.1204C>T	CCDS8535.1																																																																																				0.517	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	NM_000217		12:5021748
FAM19A5	25817	broad.mit.edu	37	22	49042501	49042501	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr22:49042501G>A	ENST00000402357.1	+	2	338	c.205G>A	c.(205-207)Gcg>Acg	p.A69T	FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000358295.5_Missense_Mutation_p.A62T	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5	69						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		CGCCCGCTGTGCGTGTAGAAA	0.706																																						ENST00000358295.5		NA																	0				large_intestine(1)|lung(6)	7						c.(184-186)Gcg>Acg		family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							19.0	25.0	23.0					22																	49042501		2043	4173	6216	SO:0001583	missense	25817					extracellular region|integral to membrane		g.chr22:49042501G>A	AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.205G>A	22.37:g.49042501G>A	ENSP00000383933:p.Ala69Thr	False	False		Somatic	0				FAM19A5_ENST00000473898.1_Intron|FAM19A5_ENST00000402357.1_Missense_Mutation_p.A69T	p.A62T	NM_015381.5	NP_056196.2	WXS	Illumina HiSeq	Phase_I	Q7Z5A7	F19A5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)	2	359	+		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)	69					A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	ENST00000402357.1	37	c.184G>A	CCDS46728.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446877	0.84101	.	.	ENSG00000219438	ENST00000402357;ENST00000336769;ENST00000358295	.	.	.	5.2	5.2	0.72013	.	.	.	.	.	T	0.75474	0.3854	M	0.62723	1.935	0.80722	D	1	D;D	0.62365	0.975;0.991	P;P	0.62382	0.591;0.901	T	0.78409	-0.2215	8	0.87932	D	0	.	17.3357	0.87280	0.0:0.0:1.0:0.0	.	62;69	Q7Z5A7-2;Q7Z5A7	.;F19A5_HUMAN	T	69;69;62	.	ENSP00000336812:A69T	A	+	1	0	FAM19A5	47428937	1.000000	0.71417	0.125000	0.21846	0.391000	0.30476	8.827000	0.92041	2.417000	0.82017	0.655000	0.94253	GCG		0.706	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317504.1	0	NM_015381		22:49042501
ADARB2	105	broad.mit.edu	37	10	1405435	1405435	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:1405435C>T	ENST00000381312.1	-	3	1190	c.865G>A	c.(865-867)Ggg>Agg	p.G289R	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	289	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.G289R(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TAGCGCAGCCCGGCGCGCAGG	0.771																																						ENST00000381312.1		NA																	1	Substitution - Missense(1)	p.G289R(1)	skin(1)	breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(865-867)Ggg>Agg		adenosine deaminase, RNA-specific, B2 (non-functional)							3.0	3.0	3.0					10																	1405435		1713	3548	5261	SO:0001583	missense	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405435C>T	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.865G>A	10.37:g.1405435C>T	ENSP00000370713:p.Gly289Arg	True	False		Somatic	0					p.G289R	NM_018702.3	NP_061172.1	WXS	Illumina HiSeq	Phase_I	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	1190	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	289			DRBM 2.		B2RPJ5|Q5VUT6|Q5VW42	Missense_Mutation	SNP	ENST00000381312.1	37	c.865G>A	CCDS7058.1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869534	0.72065	.	.	ENSG00000185736	ENST00000381312	T	0.76448	-1.02	5.24	5.24	0.73138	Double-stranded RNA-binding (2);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.86740	0.6005	L	0.60845	1.875	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87900	0.2690	10	0.87932	D	0	-37.0365	18.8514	0.92232	0.0:1.0:0.0:0.0	.	289	Q9NS39	RED2_HUMAN	R	289	ENSP00000370713:G289R	ENSP00000370713:G289R	G	-	1	0	ADARB2	1395435	1.000000	0.71417	0.875000	0.34327	0.009000	0.06853	7.681000	0.84073	2.445000	0.82738	0.561000	0.74099	GGG		0.771	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	0	NM_018702		10:1405435
PDZD7	79955	broad.mit.edu	37	10	102778797	102778797	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:102778797G>A	ENST00000370215.3	-	8	1331	c.1106C>T	c.(1105-1107)gCc>gTc	p.A369V		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	369						cilium (GO:0005929)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGTCTGCATGGCTGTGTCCGC	0.741											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000370215.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(1105-1107)gCc>gTc		PDZ domain containing 7							5.0	7.0	6.0					10																	102778797		2054	4067	6121	SO:0001583	missense	79955					cilium|nucleus	protein binding	g.chr10:102778797G>A	AK026862	CCDS31269.1, CCDS73182.1	10q24.32	2006-01-24		2006-01-24	ENSG00000186862	ENSG00000186862			26257	protein-coding gene	gene with protein product		612971		PDZK7		12477932	Standard	NM_024895		Approved	FLJ23209, bA108L7.8	uc021pxc.1	Q9H5P4	OTTHUMG00000018916	ENST00000370215.3:c.1106C>T	10.37:g.102778797G>A	ENSP00000359234:p.Ala369Val	False	False		Somatic	0	OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1369		p.A369V	NM_024895.4	NP_079171.1	WXS	Illumina HiSeq	Phase_I	Q9H5P4	PDZD7_HUMAN		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)	8	1331	-			369					D5FJ77|Q8N321	Missense_Mutation	SNP	ENST00000370215.3	37	c.1106C>T	CCDS31269.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397005	0.96009	.	.	ENSG00000186862	ENST00000393462;ENST00000370215	T	0.14266	2.52	5.21	5.21	0.72293	.	0.457692	0.22908	N	0.054180	T	0.37183	0.0994	M	0.61703	1.905	0.54753	D	0.99998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.96;0.998	T	0.03761	-1.1006	10	0.48119	T	0.1	.	18.7565	0.91835	0.0:0.0:1.0:0.0	.	369;369	Q9H5P4;Q9H5P4-2	PDZD7_HUMAN;.	V	369	ENSP00000359234:A369V	ENSP00000359234:A369V	A	-	2	0	PDZD7	102768787	1.000000	0.71417	0.997000	0.53966	0.850000	0.48378	8.990000	0.93510	2.433000	0.82419	0.561000	0.74099	GCC		0.741	PDZD7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049883.1	0	NM_024895		10:102778797
NALCN	259232	broad.mit.edu	37	13	102047562	102047562	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:102047562G>A	ENST00000251127.6	-	3	344	c.263C>T	c.(262-264)gCa>gTa	p.A88V	NALCN_ENST00000376196.3_Missense_Mutation_p.A88V|NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	88					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGCATTTTTGCTATCATCTC	0.388																																						ENST00000251127.6		NA																	0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(262-264)gCa>gTa		sodium leak channel, non-selective							111.0	90.0	97.0					13																	102047562		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:102047562G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.263C>T	13.37:g.102047562G>A	ENSP00000251127:p.Ala88Val	True	False		Somatic	0				NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376200.5_Missense_Mutation_p.A88V|NALCN_ENST00000376196.3_Missense_Mutation_p.A88V	p.A88V	NM_052867.2	NP_443099.1	WXS	Illumina HiSeq	Phase_I	Q8IZF0	NALCN_HUMAN			3	344	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		88					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.263C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972746	0.34848	.	.	ENSG00000102452	ENST00000251127;ENST00000376196;ENST00000376200;ENST00000449582	D;D;D	0.98105	-4.72;-4.72;-4.72	5.59	5.59	0.84812	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.92861	0.7729	N	0.08118	0	0.80722	D	1	B;B	0.32526	0.374;0.328	B;B	0.35039	0.194;0.194	D	0.91202	0.4992	10	0.02654	T	1	.	19.5954	0.95535	0.0:0.0:1.0:0.0	.	88;88	F2Z323;Q8IZF0	.;NALCN_HUMAN	V	88	ENSP00000251127:A88V;ENSP00000365367:A88V;ENSP00000365373:A88V	ENSP00000251127:A88V	A	-	2	0	NALCN	100845563	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.476000	0.97823	2.635000	0.89317	0.563000	0.77884	GCA		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	0	NM_052867		13:102047562
RPL11	6135	broad.mit.edu	37	1	24022341	24022341	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr1:24022341C>A	ENST00000374550.3	+	5	495	c.450C>A	c.(448-450)tgC>tgA	p.C150*	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	150					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGACAGGCTGCATTGGGGCCA	0.517																																						ENST00000374550.3		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(448-450)tgC>tgA		ribosomal protein L11							72.0	61.0	65.0					1																	24022341		2202	4299	6501	SO:0001587	stop_gained	6135				endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome	g.chr1:24022341C>A	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.450C>A	1.37:g.24022341C>A	ENSP00000363676:p.Cys150*	False	False		Somatic	0				RPL11_ENST00000482370.1_3'UTR	p.C150*	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	WXS	Illumina HiSeq	Phase_I	P62913	RL11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)	5	495	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	150					P25121|P39026|Q8TDH2|Q9Y674	Nonsense_Mutation	SNP	ENST00000374550.3	37	c.450C>A	CCDS238.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354407	0.82243	.	.	ENSG00000142676	ENST00000374550;ENST00000458455	.	.	.	5.7	3.82	0.43975	.	0.218912	0.49305	D	0.000147	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-16.091	7.4225	0.27079	0.1337:0.7263:0.0:0.14	.	.	.	.	X	150;148	.	ENSP00000363676:C150X	C	+	3	2	RPL11	23894928	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.446000	0.44908	1.417000	0.47077	-0.218000	0.12543	TGC		0.517	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	0	NM_000975		1:24022341
MYO7B	4648	broad.mit.edu	37	2	128350393	128350393	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr2:128350393C>T	ENST00000409816.2	+	16	2049	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	MYO7B_ENST00000389524.4_Missense_Mutation_p.R673W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W			Q6PIF6	MYO7B_HUMAN	myosin VIIB	673	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCTGTGCCTGCGGCAGCTGCG	0.672																																						ENST00000389524.4		NA																	0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(2017-2019)Cgg>Tgg		myosin VIIB							16.0	24.0	22.0					2																	128350393		2040	4173	6213	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128350393C>T		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.2017C>T	2.37:g.128350393C>T	ENSP00000386461:p.Arg673Trp	False	False		Somatic	0				MYO7B_ENST00000409816.2_Missense_Mutation_p.R673W|MYO7B_ENST00000428314.1_Missense_Mutation_p.R673W	p.R673W			WXS	Illumina HiSeq	Phase_I	Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	17	2070	+	Colorectal(110;0.1)		673			Myosin head-like.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.2017C>T	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086081	0.76642	.	.	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816	T;T;T	0.72394	-0.65;-0.65;-0.65	4.93	4.04	0.47022	Myosin head, motor domain (2);	0.419727	0.22981	N	0.053306	D	0.84705	0.5531	M	0.91612	3.225	0.40257	D	0.978134	D	0.76494	0.999	D	0.65987	0.94	D	0.86786	0.1982	10	0.87932	D	0	.	9.7827	0.40658	0.1463:0.777:0.0:0.0767	.	673	Q6PIF6	MYO7B_HUMAN	W	673	ENSP00000374175:R673W;ENSP00000415090:R673W;ENSP00000386461:R673W	ENSP00000374175:R673W	R	+	1	2	MYO7B	128066863	0.096000	0.21769	0.486000	0.27416	0.986000	0.74619	2.109000	0.41863	1.198000	0.43158	0.655000	0.94253	CGG		0.672	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	0	XM_291001		2:128350393
DOCK2	1794	broad.mit.edu	37	5	169098083	169098083	+	Splice_Site	SNP	A	A	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr5:169098083A>T	ENST00000256935.8	+	5	306	c.226A>T	c.(226-228)Aat>Tat	p.N76Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	76					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTAAATAGAAATACTGAGAA	0.443																																						ENST00000256935.8		NA																	0				NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160						c.(226-228)Aat>Tat		dedicator of cytokinesis 2							72.0	67.0	69.0					5																	169098083		2203	4300	6503	SO:0001630	splice_region_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169098083A>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.225-1A>T	5.37:g.169098083A>T		True	False		Somatic	0					p.N76Y	NM_004946.2	NP_004937.1	WXS	Illumina HiSeq	Phase_I	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	306	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	76					Q2M3I0|Q96AK7	Splice_Site	SNP	ENST00000256935.8	37	c.226A>T	CCDS4371.1	.	.	.	.	.	.	.	.	.	.	A	12.60	1.986874	0.35036	.	.	ENSG00000134516	ENST00000256935	T	0.50001	0.76	5.67	5.67	0.87782	.	0.145914	0.64402	D	0.000012	T	0.30008	0.0751	N	0.22421	0.69	0.80722	D	1	P	0.45902	0.868	B	0.34038	0.174	T	0.13845	-1.0494	10	0.41790	T	0.15	.	12.6492	0.56751	0.8529:0.1471:0.0:0.0	.	76	Q92608	DOCK2_HUMAN	Y	76	ENSP00000256935:N76Y	ENSP00000256935:N76Y	N	+	1	0	DOCK2	169030661	1.000000	0.71417	0.979000	0.43373	0.981000	0.71138	3.543000	0.53633	2.158000	0.67659	0.460000	0.39030	AAT		0.443	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	0	NM_004946	Missense_Mutation	5:169098083
MPP7	143098	broad.mit.edu	37	10	28343119	28343119	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:28343119C>A	ENST00000375732.1	-	17	1865	c.1606G>T	c.(1606-1608)Ggt>Tgt	p.G536C	MPP7_ENST00000540098.1_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000337532.5_Missense_Mutation_p.G536C			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	536	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAAGATGACCATATTGACTT	0.318																																						ENST00000337532.5		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						c.(1606-1608)Ggt>Tgt		membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)							58.0	58.0	58.0					10																	28343119		2203	4299	6502	SO:0001583	missense	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28343119C>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1606G>T	10.37:g.28343119C>A	ENSP00000364884:p.Gly536Cys	False	False		Somatic	0				MPP7_ENST00000375732.1_Missense_Mutation_p.G536C|MPP7_ENST00000375719.3_Missense_Mutation_p.G536C|MPP7_ENST00000540098.1_Missense_Mutation_p.G536C	p.G536C	NM_173496.3	NP_775767.2	WXS	Illumina HiSeq	Phase_I	Q5T2T1	MPP7_HUMAN			18	1882	-			536			Guanylate kinase-like.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Missense_Mutation	SNP	ENST00000375732.1	37	c.1606G>T	CCDS7158.1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655017	0.67472	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719;ENST00000441595	T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91	5.18	5.18	0.71444	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.096174	0.64402	D	0.000001	T	0.66790	0.2825	M	0.85777	2.775	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.71879	-0.4459	10	0.66056	D	0.02	.	13.0486	0.58942	0.0:0.9226:0.0:0.0774	.	536	Q5T2T1	MPP7_HUMAN	C	536;536;536;536;297	ENSP00000364884:G536C;ENSP00000337907:G536C;ENSP00000438693:G536C;ENSP00000364871:G536C;ENSP00000398319:G297C	ENSP00000337907:G536C	G	-	1	0	MPP7	28383125	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.634000	0.37123	2.395000	0.81488	0.591000	0.81541	GGT		0.318	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	0	NM_173496		10:28343119
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
HERC2	8924	broad.mit.edu	37	15	28413594	28413594	+	Missense_Mutation	SNP	C	C	T	rs370685397		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr15:28413594C>T	ENST00000261609.7	-	67	10480	c.10372G>A	c.(10372-10374)Gaa>Aaa	p.E3458K		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTCTGTCTTCGATATCAACA	0.502																																						ENST00000261609.7		NA																	0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204						c.(10372-10374)Gaa>Aaa		HECT and RLD domain containing E3 ubiquitin protein ligase 2		C	LYS/GLU	2,4404	4.2+/-10.8	0,2,2201	159.0	149.0	153.0		10372	5.2	0.9	15		153	0,8600		0,0,4300	no	missense	HERC2	NM_004667.4	56	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	3458/4835	28413594	2,13004	2203	4300	6503	SO:0001583	missense	8924				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr15:28413594C>T	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.10372G>A	15.37:g.28413594C>T	ENSP00000261609:p.Glu3458Lys	False	False		Somatic	0					p.E3458K	NM_004667.5	NP_004658.3	WXS	Illumina HiSeq	Phase_I	O95714	HERC2_HUMAN		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)	67	10480	-		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)	3458						Missense_Mutation	SNP	ENST00000261609.7	37	c.10372G>A	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.016642	0.75161	4.54E-4	0.0	ENSG00000128731	ENST00000261609	T	0.37752	1.18	5.25	5.25	0.73442	.	0.049842	0.85682	D	0.000000	T	0.30448	0.0765	L	0.52364	1.645	0.80722	D	1	D	0.53619	0.961	B	0.36922	0.236	T	0.18147	-1.0346	10	0.10377	T	0.69	.	19.2064	0.93732	0.0:1.0:0.0:0.0	.	3458	O95714	HERC2_HUMAN	K	3458	ENSP00000261609:E3458K	ENSP00000261609:E3458K	E	-	1	0	HERC2	26087189	1.000000	0.71417	0.899000	0.35326	0.042000	0.13812	7.772000	0.85439	2.606000	0.88127	0.491000	0.48974	GAA		0.502	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	0	NM_004667		15:28413594
GPR126	57211	broad.mit.edu	37	6	142691373	142691373	+	Missense_Mutation	SNP	T	T	C	rs372275604		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr6:142691373T>C	ENST00000230173.6	+	4	988	c.512T>C	c.(511-513)gTt>gCt	p.V171A	GPR126_ENST00000545477.1_Intron|GPR126_ENST00000296932.8_Missense_Mutation_p.V171A|GPR126_ENST00000367609.3_Missense_Mutation_p.V171A|GPR126_ENST00000367608.2_Missense_Mutation_p.V171A	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	171	Pentaxin.				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)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGTATCTGTTGCAAAAAGC	0.423																																						ENST00000230173.6		NA																	0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(511-513)gTt>gCt		G protein-coupled receptor 126		T	ALA/VAL,ALA/VAL,ALA/VAL,ALA/VAL	0,3812		0,0,1906	91.0	81.0	84.0		512,512,512,512	4.0	1.0	6		84	1,8269		0,1,4134	no	missense,missense,missense,missense	GPR126	NM_001032394.2,NM_001032395.2,NM_020455.5,NM_198569.2	64,64,64,64	0,1,6040	CC,CT,TT		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	171/1194,171/1223,171/1222,171/1251	142691373	1,12081	1906	4135	6041	SO:0001583	missense	0				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142691373T>C	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.512T>C	6.37:g.142691373T>C	ENSP00000230173:p.Val171Ala	False	False		Somatic	0				GPR126_ENST00000367609.3_Missense_Mutation_p.V171A|GPR126_ENST00000296932.8_Missense_Mutation_p.V171A|GPR126_ENST00000367608.2_Missense_Mutation_p.V171A|GPR126_ENST00000545477.1_Intron	p.V171A	NM_020455.5	NP_065188	WXS	Illumina HiSeq	Phase_I	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	4	988	+	Breast(32;0.176)		171			Pentaxin.		Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	ENST00000230173.6	37	c.512T>C	CCDS47490.1	.	.	.	.	.	.	.	.	.	.	T	17.26	3.344088	0.61073	0.0	1.21E-4	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609;ENST00000541199	T;T;T;T;T	0.06849	3.25;3.25;3.25;3.25;3.25	5.17	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.110205	0.40144	N	0.001172	T	0.08758	0.0217	M	0.69823	2.125	0.34146	D	0.666988	P;P;P;P;B	0.41159	0.695;0.695;0.695;0.74;0.0	B;B;B;P;B	0.47864	0.304;0.304;0.423;0.559;0.005	T	0.01884	-1.1254	10	0.87932	D	0	.	10.5103	0.44857	0.0:0.0757:0.0:0.9243	.	171;171;171;171;170	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4;F5H2L1	.;.;.;GP126_HUMAN;.	A	171;171;171;171;170	ENSP00000230173:V171A;ENSP00000356580:V171A;ENSP00000296932:V171A;ENSP00000356581:V171A;ENSP00000446287:V170A	ENSP00000230173:V171A	V	+	2	0	GPR126	142733066	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	4.374000	0.59543	0.839000	0.34971	0.528000	0.53228	GTT		0.423	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2	0			6:142691373
TIMELESS	8914	broad.mit.edu	37	12	56825369	56825369	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr12:56825369C>T	ENST00000553532.1	-	8	857	c.707G>A	c.(706-708)gGa>gAa	p.G236E	TIMELESS_ENST00000229201.4_Missense_Mutation_p.G235E|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTGCCCTACTCCCGCCAGCTG	0.547																																						ENST00000229201.4		NA																	0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(703-705)gGa>gAa		timeless circadian clock							67.0	63.0	64.0					12																	56825369		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56825369C>T	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.707G>A	12.37:g.56825369C>T	ENSP00000450607:p.Gly236Glu	True	False		Somatic	0				TIMELESS_ENST00000554616.1_Missense_Mutation_p.G236E|TIMELESS_ENST00000553532.1_Missense_Mutation_p.G236E	p.G235E	NM_003920.3	NP_003911.2	WXS	Illumina HiSeq	Phase_I	Q9UNS1	TIM_HUMAN			8	858	-			236						Missense_Mutation	SNP	ENST00000553532.1	37	c.704G>A	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	C	2.672	-0.277284	0.05679	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.39056	1.1;1.1;1.1	5.42	3.49	0.39957	Timeless protein (1);	0.470219	0.24623	N	0.036943	T	0.18923	0.0454	N	0.04508	-0.205	0.09310	N	1	B;B	0.24675	0.089;0.109	B;B	0.30943	0.075;0.122	T	0.22800	-1.0206	10	0.11182	T	0.66	-0.0727	8.6066	0.33778	0.1394:0.5219:0.3387:0.0	.	235;236	Q9UNS1-2;Q9UNS1	.;TIM_HUMAN	E	235;236;236	ENSP00000229201:G235E;ENSP00000450607:G236E;ENSP00000450848:G236E	ENSP00000229201:G236E	G	-	2	0	TIMELESS	55111636	0.077000	0.21312	0.764000	0.31436	0.291000	0.27294	2.205000	0.42770	2.715000	0.92844	0.655000	0.94253	GGA		0.547	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	0	NM_003920		12:56825369
ZC3H13	23091	broad.mit.edu	37	13	46543773	46543773	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr13:46543773T>A	ENST00000242848.4	-	14	3254	c.2906A>T	c.(2905-2907)aAa>aTa	p.K969I	ZC3H13_ENST00000378921.2_5'UTR|ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	969	Lys-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTTTCTTTTTCTTAATTGG	0.363																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4		NA																	0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(2905-2907)aAa>aTa		zinc finger CCCH-type containing 13							151.0	148.0	149.0					13																	46543773		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46543773T>A	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2906A>T	13.37:g.46543773T>A	ENSP00000242848:p.Lys969Ile	True	False		Somatic	0				ZC3H13_ENST00000282007.3_Missense_Mutation_p.K969I|ZC3H13_ENST00000378921.2_5'UTR	p.K969I			WXS	Illumina HiSeq	Phase_I	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	14	3254	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	969			Lys-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.2906A>T		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572751	0.28092	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.49139	1.81;0.79	5.78	2.02	0.26589	.	0.257379	0.33515	N	0.004827	T	0.56790	0.2009	M	0.62723	1.935	0.80722	D	1	P;D	0.54397	0.943;0.966	P;P	0.58266	0.69;0.836	T	0.56220	-0.8015	10	0.51188	T	0.08	.	10.1538	0.42809	0.0:0.1986:0.0:0.8014	.	969;969	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	I	969	ENSP00000242848:K969I;ENSP00000282007:K969I	ENSP00000242848:K969I	K	-	2	0	ZC3H13	45441774	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.762000	0.55250	0.543000	0.28864	0.533000	0.62120	AAA		0.363	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	0	NM_015070		13:46543773
PFKFB1	5207	broad.mit.edu	37	X	54987327	54987327	+	Nonsense_Mutation	SNP	G	G	A	rs147665375		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chrX:54987327G>A	ENST00000375006.3	-	3	317	c.247C>T	c.(247-249)Cga>Tga	p.R83*	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	83	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACTGCCTCTCGTCGATACTGG	0.468																																						ENST00000375006.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						c.(247-249)Cga>Tga		6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1		G	stop/ARG	1,3834		0,1,1631,571	112.0	93.0	99.0		247	2.9	1.0	X	dbSNP_134	99	1,6727		0,1,2427,1872	no	stop-gained	PFKFB1	NM_002625.2		0,2,4058,2443	AA,AG,GG,G		0.0149,0.0261,0.0189		83/472	54987327	2,10561	2203	4300	6503	SO:0001587	stop_gained	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54987327G>A		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.247C>T	X.37:g.54987327G>A	ENSP00000364145:p.Arg83*	False	False		Somatic	0				PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Nonsense_Mutation_p.R18*	p.R83*	NM_002625.2	NP_002616.2	WXS	Illumina HiSeq	Phase_I	P16118	F261_HUMAN			3	317	-			83			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Nonsense_Mutation	SNP	ENST00000375006.3	37	c.247C>T	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	G	35	5.525944	0.96431	2.61E-4	1.49E-4	ENSG00000158571	ENST00000375006;ENST00000545676	.	.	.	4.89	2.9	0.33743	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.2486	12.3398	0.55087	0.0:0.0:0.6625:0.3375	.	.	.	.	X	83;18	.	ENSP00000364145:R83X	R	-	1	2	PFKFB1	55004052	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.625000	0.37029	0.359000	0.24239	0.594000	0.82650	CGA		0.468	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1	0			X:54987327
DMBT1	1755	broad.mit.edu	37	10	124399679	124399679	+	Missense_Mutation	SNP	G	G	A	rs369691816		TCGA-HZ-8002-01A-11D-2201-08	TCGA-HZ-8002-10A-01D-2201-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	9a094025-0de4-477e-853d-0bb1808e24b5	44e758af-a0d1-4d6f-addc-33ec19fd1be3	g.chr10:124399679G>A	ENST00000338354.3	+	52	6785	c.6679G>A	c.(6679-6681)Gac>Aac	p.D2227N	DMBT1_ENST00000368909.3_Missense_Mutation_p.D2227N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2227	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCTGGGTCGACACCATGTA	0.478																																					Ovarian(182;93 2026 18125 22222 38972)	ENST00000368909.3		NA																	0				breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72						c.(6679-6681)Gac>Aac		deleted in malignant brain tumors 1		G	ASN/ASP,ASN/ASP,ASN/ASP	0,4252		0,0,2126	235.0	222.0	226.0		4795,6679,6649	-11.1	0.0	10		226	2,8494		0,2,4246	no	missense,missense,missense	DMBT1	NM_004406.2,NM_007329.2,NM_017579.2	23,23,23	0,2,6372	AA,AG,GG		0.0235,0.0,0.0157	benign,benign,benign	1599/1786,2227/2414,2217/2404	124399679	2,12746	2126	4248	6374	SO:0001583	missense	1755				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	g.chr10:124399679G>A		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.6679G>A	10.37:g.124399679G>A	ENSP00000342210:p.Asp2227Asn	False	False		Somatic	0				DMBT1_ENST00000330163.4_Missense_Mutation_p.D1599N|DMBT1_ENST00000368956.2_Missense_Mutation_p.D1599N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D2217N|DMBT1_ENST00000359586.6_Missense_Mutation_p.D947N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D2227N	p.D2227N	NM_007329.2	NP_015568.2	WXS	Illumina HiSeq	Phase_I	Q9UGM3	DMBT1_HUMAN			52	6785	+		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)	2227			ZP.		A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37	c.6679G>A		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252436	0.22880	0.0	2.35E-4	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000327438;ENST00000344338;ENST00000339712;ENST00000330163;ENST00000368909;ENST00000368955;ENST00000368956;ENST00000344467;ENST00000359586	D;D;D;D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54;-1.54;-1.54;-1.54	5.53	-11.1	0.00147	Zona pellucida sperm-binding protein (3);	2.913890	0.01909	N	0.039733	T	0.58637	0.2136	N	0.10809	0.05	0.09310	N	1	B;B;B;B;B;B;B	0.24963	0.001;0.115;0.001;0.001;0.001;0.001;0.001	B;B;B;B;B;B;B	0.09377	0.001;0.004;0.0;0.0;0.0;0.0;0.001	T	0.53655	-0.8408	10	0.08599	T	0.76	.	15.5153	0.75818	0.1221:0.2851:0.5928:0.0	.	947;2207;1476;2356;1599;2217;2227	F8WEF7;Q9UGM3-5;Q9UGM3-8;Q9UGM3-6;Q9UGM3-2;Q9UGM3-3;Q9UGM3	.;.;.;.;.;.;DMBT1_HUMAN	N	2227;2356;2227;2227;2227;2226;1599;2217;1599;1599;2227;2217;1599;373;947	ENSP00000342210:D2227N;ENSP00000343175:D2217N;ENSP00000327747:D1599N;ENSP00000357905:D2227N;ENSP00000357951:D2217N;ENSP00000357952:D1599N;ENSP00000352593:D947N	ENSP00000331522:D1599N	D	+	1	0	DMBT1	124389669	0.000000	0.05858	0.000000	0.03702	0.731000	0.41821	-0.417000	0.07088	-2.593000	0.00455	-1.004000	0.02495	GAC		0.478	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	0	NM_004406		10:124399679
