#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
KAT6B	23522	broad.mit.edu	37	10	76788316	76788317	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr10:76788316_76788317insT	ENST00000287239.4	+	18	4223_4224	c.3734_3735insT	c.(3733-3738)aaacaafs	p.KQ1245fs	KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.KQ953fs|KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.KQ953fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.KQ1062fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.KQ953fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1245					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTAAAGTGCAAACAAGTGTGGC	0.411																																						ENST00000287239.4		NA																	0					NA						c.(3733-3738)aaacaafs		K(lysine) acetyltransferase 6B																																				SO:0001589	frameshift_variant	23522				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding	g.chr10:76788316_76788317insT	AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	Exception_encountered	10.37:g.76788316_76788317insT	ENSP00000287239:p.Lys1245fs	True	False		Somatic	0				KAT6B_ENST00000372724.1_Frame_Shift_Ins_p.KQ953fs|KAT6B_ENST00000372725.1_Frame_Shift_Ins_p.KQ953fs|KAT6B_ENST00000372714.1_Frame_Shift_Ins_p.KQ953fs|KAT6B_ENST00000372711.1_Frame_Shift_Ins_p.KQ1062fs	p.KQ1245fs	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	WXS	Illumina HiSeq	Phase_I	Q8WYB5	MYST4_HUMAN			18	4223_4224	+			1245					O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Frame_Shift_Ins	INS	ENST00000287239.4	37	c.3734_3735insT	CCDS7345.1																																																																																				0.411	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	0	NM_012330		10:76788316
SIGIRR	59307	broad.mit.edu	37	11	406437	406439	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GTC	GTC	-	-	GTC	GTC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:406437_406439delGTC	ENST00000431843.2	-	9	1285_1287	c.979_981delGAC	c.(979-981)gacdel	p.D327del	SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000529486.1_5'Flank|SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del|SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	327					acute-phase response (GO:0006953)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGGGTCCTTGTCGTCCTGCAGC	0.65																																						ENST00000431843.2		NA																	0				cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13						c.(979-981)gacdel		single immunoglobulin and toll-interleukin 1 receptor (TIR) domain																																				SO:0001651	inframe_deletion	59307				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity	g.chr11:406437_406439delGTC		CCDS31325.1	11p15.5	2013-01-11	2005-10-10					"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30575	protein-coding gene	gene with protein product	"""single immunoglobulin domain IL1R1 related"""	605478				10346978	Standard	NM_021805		Approved	TIR8	uc001lpe.1	Q6IA17		ENST00000431843.2:c.979_981delGAC	11.37:g.406440_406442delGTC	ENSP00000403104:p.Asp327del	False	False		Somatic	2				SIGIRR_ENST00000531205.1_In_Frame_Del_p.D327del|SIGIRR_ENST00000332725.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000397632.3_In_Frame_Del_p.D327del|SIGIRR_ENST00000382520.2_In_Frame_Del_p.D327del	p.D327del	NM_001135054.1	NP_001128526.1	WXS	Illumina HiSeq	Phase_I	Q6IA17	SIGIR_HUMAN		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)	9	1285_1287	-		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	327					Q3KQY2|Q6UXI3|Q9H733	In_Frame_Del	DEL	ENST00000431843.2	37	c.979_981delGAC	CCDS31325.1																																																																																				0.650	SIGIRR-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383884.3	0	NM_021805		11:406437
IGF2	3481	broad.mit.edu	37	11	2154347	2154348	+	Frame_Shift_Ins	INS	-	-	T	rs371682005		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:2154347_2154348insT	ENST00000416167.2	-	4	1578_1579	c.412_413insA	c.(412-414)cggfs	p.R138fs	MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381395.1_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381406.4_Frame_Shift_Ins_p.R141fs|IGF2_ENST00000418738.2_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381389.1_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381392.1_Frame_Shift_Ins_p.R141fs|IGF2_ENST00000434045.2_Frame_Shift_Ins_p.R194fs|IGF2_ENST00000300632.5_Frame_Shift_Ins_p.R138fs			P01344	IGF2_HUMAN	insulin-like growth factor 2	138					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CACGTGACCCCGGCGGGCACGC	0.678																																						ENST00000416167.2		NA																	0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(412-414)cggfs		insulin-like growth factor 2 (somatomedin A)																																				SO:0001589	frameshift_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154347_2154348insT	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.412_413insA	11.37:g.2154347_2154348insT	ENSP00000414497:p.Arg138fs	True	False		Somatic	0				IGF2_ENST00000381406.4_Frame_Shift_Ins_p.R141fs|IGF2_ENST00000381395.1_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000300632.5_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381392.1_Frame_Shift_Ins_p.R141fs|IGF2_ENST00000418738.2_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000337883.6_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000381389.1_Frame_Shift_Ins_p.R138fs|IGF2_ENST00000434045.2_Frame_Shift_Ins_p.R194fs	p.R138fs			WXS	Illumina HiSeq	Phase_I	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1578_1579	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	138					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Frame_Shift_Ins	INS	ENST00000416167.2	37	c.412_413insA	CCDS7728.1																																																																																				0.678	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	0	NM_000612		11:2154347
IGF2	3481	broad.mit.edu	37	11	2154349	2154350	+	Frame_Shift_Ins	INS	-	-	GGCTTCT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:2154349_2154350insGGCTTCT	ENST00000416167.2	-	4	1576_1577	c.410_411insAGAAGCC	c.(409-411)cgcfs	p.-137fs	MIR483_ENST00000385070.1_RNA|IGF2_ENST00000381395.1_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381406.4_Frame_Shift_Ins_p.-140fs|IGF2_ENST00000418738.2_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381389.1_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381392.1_Frame_Shift_Ins_p.-140fs|IGF2_ENST00000434045.2_Frame_Shift_Ins_p.-193fs|IGF2_ENST00000300632.5_Frame_Shift_Ins_p.-137fs			P01344	IGF2_HUMAN	insulin-like growth factor 2						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|exocrine pancreas development (GO:0031017)|female pregnancy (GO:0007565)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|organ morphogenesis (GO:0009887)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nicotine (GO:0035094)|response to nutrient levels (GO:0031667)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|striated muscle cell differentiation (GO:0051146)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	growth factor activity (GO:0008083)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|protein serine/threonine kinase activator activity (GO:0043539)|receptor activator activity (GO:0030546)			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTGACCCCGGCGGGCACGCAG	0.668																																						ENST00000416167.2		NA																	0				central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6						c.(409-411)cgcfs		insulin-like growth factor 2 (somatomedin A)																																				SO:0001589	frameshift_variant	3481				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity	g.chr11:2154349_2154350insGGCTTCT	M29645, AK025719	CCDS7728.1, CCDS44517.1	11p15.5	2014-09-16	2014-09-16		ENSG00000167244	ENSG00000167244			5466	protein-coding gene	gene with protein product	"""somatomedin A"""	147470	"""chromosome 11 open reading frame 43"""	C11orf43		2450353, 3167054	Standard	NM_000612		Approved	FLJ44734, IGF-II	uc009ydf.3	P01344	OTTHUMG00000009395	ENST00000416167.2:c.410_411insAGAAGCC	11.37:g.2154349_2154350insGGCTTCT	ENSP00000414497:p.Arg137fs	True	False		Somatic	0				IGF2_ENST00000381406.4_Frame_Shift_Ins_p.-140fs|IGF2_ENST00000381395.1_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000300632.5_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381392.1_Frame_Shift_Ins_p.-140fs|IGF2_ENST00000418738.2_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000337883.6_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000381389.1_Frame_Shift_Ins_p.-137fs|IGF2_ENST00000434045.2_Frame_Shift_Ins_p.-193fs	p.-137fs			WXS	Illumina HiSeq	Phase_I	P01344	IGF2_HUMAN	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)	4	1576_1577	-		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	NA					B3KX48|B7WP08|C9JAF2|E3UN45|P78449|Q14299|Q1WM26|Q9UC68|Q9UC69	Frame_Shift_Ins	INS	ENST00000416167.2	37	c.410_411insAGAAGCC	CCDS7728.1																																																																																				0.668	IGF2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026053.2	0	NM_000612		11:2154349
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000398692.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000578778.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
ATM	472	broad.mit.edu	37	11	108199895	108199896	+	In_Frame_Ins	INS	-	-	CAACCAATTTAAATTATATTT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:108199895_108199896insCAACCAATTTAAATTATATTT	ENST00000452508.2	+	50	7426_7427	c.7237_7238insCAACCAATTTAAATTATATTT	c.(7237-7239)aag>aCAACCAATTTAAATTATATTTag	p.2413_2413K>TTNLNYI*	C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_In_Frame_Ins_p.2413_2413K>TTNLNYI*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2413	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)	p.K2413Q(2)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATTTGAAAACAAGCAAGCTCTC	0.356			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000452508.2		NA	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		2	Substitution - Missense(2)	p.K2413Q(2)	lung(2)	NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(7237-7239)aag>aCAACCAATTTAAATTATATTTag	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated																																				SO:0001652	inframe_insertion	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108199895_108199896insCAACCAATTTAAATTATATTT	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	Exception_encountered	11.37:g.108199895_108199896insCAACCAATTTAAATTATATTT	ENSP00000388058:p.Lys2413delinsThrThrAsnLeuAsnTyrIle*	True	False	TSP Lung(14;0.12)	Somatic	0				C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_In_Frame_Ins_p.2413_2413K>TTNLNYI*	p.2413_2413K>TTNLNYI*			WXS	Illumina HiSeq	Phase_I	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	50	7426_7427	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	2413			FAT.		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	In_Frame_Ins	INS	ENST00000452508.2	37	c.7237_7238insCAACCAATTTAAATTATATTT	CCDS31669.1																																																																																				0.356	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	0	NM_000051		11:108199895
ZMYM2	7750	broad.mit.edu	37	13	20567380	20567381	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:20567380_20567381insA	ENST00000382874.2	+	4	358_359	c.168_169insA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382881.3_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CAGTGGAAGATGATGATGATGT	0.396																																						ENST00000382881.3		NA																	0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(169-171)gatfs		zinc finger, MYM-type 2																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567380_20567381insA	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	Exception_encountered	13.37:g.20567380_20567381insA	ENSP00000372327:p.Asp57fs	True	False		Somatic	0				ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs	p.D57fs			WXS	Illumina HiSeq	Phase_I	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	3	412_413	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	122					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Ins	INS	ENST00000382874.2	37	c.168_169insA	CCDS45016.1																																																																																				0.396	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	0	NM_003453		13:20567380
ZMYM2	7750	broad.mit.edu	37	13	20567381	20567382	+	Frame_Shift_Ins	INS	-	-	AAAAAAGAATTAAA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:20567381_20567382insAAAAAAGAATTAAA	ENST00000382874.2	+	4	359_360	c.169_170insAAAAAAGAATTAAA	c.(169-171)gatfs	p.D57fs	ZMYM2_ENST00000382881.3_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGTGGAAGATGATGATGATGTT	0.391																																						ENST00000382881.3		NA																	0				large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(169-171)gatfs		zinc finger, MYM-type 2																																				SO:0001589	frameshift_variant	7750				regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding	g.chr13:20567381_20567382insAAAAAAGAATTAAA	AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	Exception_encountered	13.37:g.20567381_20567382insAAAAAAGAATTAAA	ENSP00000372327:p.Asp57fs	True	False		Somatic	0				ZMYM2_ENST00000382871.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382874.2_Frame_Shift_Ins_p.D57fs|ZMYM2_ENST00000382869.3_Frame_Shift_Ins_p.D57fs	p.D57fs			WXS	Illumina HiSeq	Phase_I	Q9UBW7	ZMYM2_HUMAN		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)	3	413_414	+		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)	122					A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Frame_Shift_Ins	INS	ENST00000382874.2	37	c.169_170insAAAAAAGAATTAAA	CCDS45016.1																																																																																				0.391	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	0	NM_003453		13:20567381
MIPEP	4285	broad.mit.edu	37	13	24444305	24444306	+	Frame_Shift_Ins	INS	-	-	CAGTGATAATATAATAGTATCC			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:24444305_24444306insCAGTGATAATATAATAGTATCC	ENST00000382172.3	-	6	730_731	c.632_633insGGATACTATTATATTATCACTG	c.(631-633)aaafs	p.-211fs		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase						protein processing involved in protein targeting to mitochondrion (GO:0006627)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AATCCAAGATTTTAACATTGAG	0.332																																						ENST00000382172.3		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27						c.(631-633)aaafs		mitochondrial intermediate peptidase																																				SO:0001589	frameshift_variant	4285				protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	g.chr13:24444305_24444306insCAGTGATAATATAATAGTATCC		CCDS9303.1	13q12	2011-01-17			ENSG00000027001	ENSG00000027001	3.4.24.59		7104	protein-coding gene	gene with protein product		602241				9073519	Standard	NM_005932		Approved	MIP	uc001uox.4	Q99797	OTTHUMG00000016573	ENST00000382172.3:c.632_633insGGATACTATTATATTATCACTG	13.37:g.24444305_24444306insCAGTGATAATATAATAGTATCC	ENSP00000371607:p.Lys211fs	True	False		Somatic	0					p.-211fs	NM_005932.3	NP_005923.2	WXS	Illumina HiSeq	Phase_I	Q99797	MIPEP_HUMAN		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)	6	730_731	-		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)	NA					Q5JV15|Q5T9Q9|Q96G65	Frame_Shift_Ins	INS	ENST00000382172.3	37	c.632_633insGGATACTATTATATTATCACTG	CCDS9303.1																																																																																				0.332	MIPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044169.1	0			13:24444305
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
PGLYRP3	114771	broad.mit.edu	37	1	153275021	153275022	+	Frame_Shift_Ins	INS	-	-	TC			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:153275021_153275022insTC	ENST00000290722.1	-	5	643_644	c.591_592insGA	c.(589-594)atgaacfs	p.N198fs		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	198					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGGGAGGTTCATTTTAGGGC	0.465																																						ENST00000290722.1		NA																	0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28						c.(589-594)atgaacfs		peptidoglycan recognition protein 3																																				SO:0001589	frameshift_variant	114771				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr1:153275021_153275022insTC	AY035376	CCDS1035.1	1q21	2008-02-05			ENSG00000159527	ENSG00000159527			30014	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I alpha precursor"""	608197				11461926	Standard	NM_052891		Approved	PGRPIA, PGLYRPIalpha, PGRP-Ialpha	uc001fbn.1	Q96LB9	OTTHUMG00000014044	ENST00000290722.1:c.591_592insGA	1.37:g.153275021_153275022insTC	ENSP00000290722:p.Asn198fs	False	False		Somatic	0					p.N198fs	NM_052891.1	NP_443123.1	WXS	Illumina HiSeq	Phase_I	Q96LB9	PGRP3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		5	643_644	-	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		198					A1A4U8|Q5SY65	Frame_Shift_Ins	INS	ENST00000290722.1	37	c.591_592insGA	CCDS1035.1																																																																																				0.465	PGLYRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039488.1	0	NM_052891		1:153275021
NEK5	341676	broad.mit.edu	37	13	52667356	52667357	+	Frame_Shift_Ins	INS	-	-	AGCTTAAGCTTTGG			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:52667356_52667357insAGCTTAAGCTTTGG	ENST00000355568.4	-	13	1180_1181	c.1041_1042insCCAAAGCTTAAGCT	c.(1039-1044)gaaagafs	p.R348fs		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	348					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		ATTTTGGGTCTTTCTATCATTT	0.411																																						ENST00000355568.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39						c.(1039-1044)gaaagafs		NIMA-related kinase 5																																				SO:0001589	frameshift_variant	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52667356_52667357insAGCTTAAGCTTTGG	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1041_1042insCCAAAGCTTAAGCT	13.37:g.52667356_52667357insAGCTTAAGCTTTGG	ENSP00000347767:p.Arg348fs	True	False		Somatic	0					p.R348fs	NM_199289.1	NP_954983.1	WXS	Illumina HiSeq	Phase_I	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	13	1180_1181	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	348					Q5TAP5	Frame_Shift_Ins	INS	ENST00000355568.4	37	c.1041_1042insCCAAAGCTTAAGCT	CCDS31979.1																																																																																				0.411	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	0	NM_199289		13:52667356
CCDC33	80125	broad.mit.edu	37	15	74536401	74536403	+	In_Frame_Del	DEL	AAG	AAG	-	rs397774110|rs201484902|rs10552820|rs201189801|rs35899977	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	AAG	AAG	-	-	AAG	AAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:74536401_74536403delAAG	ENST00000398814.3	+	2	528_530	c.97_99delAAG	c.(97-99)aagdel	p.K34del	CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	237										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GTCTCCCTCTAAGAAGGAGACCA	0.606														1888	0.376997	0.2685	0.379	5008	,	,		16806	0.3492		0.6093	False		,,,				2504	0.3119					ENST00000398814.3		NA																	0				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(97-99)aagdel		coiled-coil domain containing 33				1328,2488		280,768,860						-0.4	0.1		dbSNP_119	71	4994,2930		1571,1852,539	no	coding	CCDC33	NM_025055.3		1851,2620,1399	A1A1,A1R,RR		36.9763,34.8008,46.1499				6322,5418				SO:0001651	inframe_deletion	80125						protein binding	g.chr15:74536401_74536403delAAG	BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.97_99delAAG	15.37:g.74536404_74536406delAAG	ENSP00000381795:p.Lys34del	False	False		Somatic	2				CCDC33_ENST00000321288.5_In_Frame_Del_p.K237del	p.K34del	NM_025055.3	NP_079331.3	WXS	Illumina HiSeq	Phase_I	Q8N5R6	CCD33_HUMAN			2	528_530	+			237					A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	In_Frame_Del	DEL	ENST00000398814.3	37	c.97_99delAAG	CCDS42058.1																																																																																				0.606	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419491.2	0	NM_182791		15:74536401
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	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
LAMC2	3918	broad.mit.edu	37	1	183206610	183206611	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:183206610_183206611insCT	ENST00000264144.4	+	18	2790_2791	c.2725_2726insCT	c.(2725-2727)ctcfs	p.L909fs	LAMC2_ENST00000493293.1_Frame_Shift_Ins_p.L909fs	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	909	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AGCACAGCAGCTCTTACAGAAT	0.396																																						ENST00000264144.4		NA																	0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(2725-2727)ctcfs		laminin, gamma 2																																				SO:0001589	frameshift_variant	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183206610_183206611insCT	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	Exception_encountered	1.37:g.183206610_183206611insCT	ENSP00000264144:p.Leu909fs	False	False		Somatic	0				LAMC2_ENST00000493293.1_Frame_Shift_Ins_p.L909fs	p.L909fs	NM_005562.2	NP_005553.2	WXS	Illumina HiSeq	Phase_I	Q13753	LAMC2_HUMAN			18	2790_2791	+			909			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Frame_Shift_Ins	INS	ENST00000264144.4	37	c.2725_2726insCT	CCDS1352.1																																																																																				0.396	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	0	NM_005562		1:183206610
SUZ12	23512	broad.mit.edu	37	17	30322748	30322749	+	Frame_Shift_Ins	INS	-	-	AAATAAAT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:30322748_30322749insAAATAAAT	ENST00000322652.5	+	14	1990_1991	c.1761_1762insAAATAAAT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AAGATGAAAAGGATCCTGAATG	0.327			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1762-1764)gatfs		SUZ12 polycomb repressive complex 2 subunit																																				SO:0001589	frameshift_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30322748_30322749insAAATAAAT	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	Exception_encountered	17.37:g.30322748_30322749insAAATAAAT	ENSP00000316578:p.Asp588fs	False	False		Somatic	0				SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	p.D588fs	NM_015355.2	NP_056170.2	WXS	Illumina HiSeq	Phase_I	Q15022	SUZ12_HUMAN			14	1990_1991	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	588			VEFS-box.		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	c.1761_1762insAAATAAAT	CCDS11270.1																																																																																				0.327	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	0	NM_015355		17:30322748
SUZ12	23512	broad.mit.edu	37	17	30322749	30322750	+	Frame_Shift_Ins	INS	-	-	TTGATTT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:30322749_30322750insTTGATTT	ENST00000322652.5	+	14	1991_1992	c.1762_1763insTTGATTT	c.(1762-1764)gatfs	p.D588fs	SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	588	VEFS-box.				histone ubiquitination (GO:0016574)|negative regulation of cell differentiation (GO:0045596)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				AGATGAAAAGGATCCTGAATGG	0.327			T	JAZF1	endometrial stromal tumours																																	ENST00000322652.5		NA		Dom	yes		17	17q11.2	23512	T	suppressor of zeste 12 homolog (Drosophila)			M	JAZF1		endometrial stromal tumours	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	0				breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21						c.(1762-1764)gatfs		SUZ12 polycomb repressive complex 2 subunit																																				SO:0001589	frameshift_variant	23512				negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	g.chr17:30322749_30322750insTTGATTT	D63881	CCDS11270.1	17q21	2013-06-05	2013-06-05		ENSG00000178691	ENSG00000178691		"""Zinc fingers, C2H2-type"""	17101	protein-coding gene	gene with protein product		606245	"""suppressor of zeste 12 homolog (Drosophila)"""			8590280, 11371647, 18784248	Standard	NM_015355		Approved	JJAZ1, KIAA0160, CHET9	uc002hgs.2	Q15022	OTTHUMG00000132813	Exception_encountered	17.37:g.30322749_30322750insTTGATTT	ENSP00000316578:p.Asp588fs	False	False		Somatic	0				SUZ12_ENST00000580398.1_Frame_Shift_Ins_p.D565fs	p.D588fs	NM_015355.2	NP_056170.2	WXS	Illumina HiSeq	Phase_I	Q15022	SUZ12_HUMAN			14	1991_1992	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)	588			VEFS-box.		Q96BD9	Frame_Shift_Ins	INS	ENST00000322652.5	37	c.1762_1763insTTGATTT	CCDS11270.1																																																																																				0.327	SUZ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256260.2	0	NM_015355		17:30322749
SLFN5	162394	broad.mit.edu	37	17	33585831	33585832	+	Frame_Shift_Ins	INS	-	-	TAGAACCATT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:33585831_33585832insTAGAACCATT	ENST00000299977.4	+	2	270_271	c.122_123insTAGAACCATT	c.(121-126)gaaatcfs	p.EI41fs	SLFN5_ENST00000542451.1_Frame_Shift_Ins_p.EI41fs|SLFN5_ENST00000592325.1_Frame_Shift_Ins_p.EI41fs	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	41					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AAACAGAATGAAATCATCCTGC	0.485																																						ENST00000542451.1		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34						c.(121-126)gaaatcfs		schlafen family member 5																																				SO:0001589	frameshift_variant	162394				cell differentiation		ATP binding	g.chr17:33585831_33585832insTAGAACCATT	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		Exception_encountered	17.37:g.33585831_33585832insTAGAACCATT	ENSP00000299977:p.Glu41fs	True	False		Somatic	0				SLFN5_ENST00000299977.4_Frame_Shift_Ins_p.EI41fs|SLFN5_ENST00000592325.1_Frame_Shift_Ins_p.EI41fs	p.EI41fs			WXS	Illumina HiSeq	Phase_I	Q08AF3	SLFN5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)	2	235_236	+		Ovarian(249;0.17)	41					Q08AF2|Q8WU54|Q96A82	Frame_Shift_Ins	INS	ENST00000299977.4	37	c.122_123insTAGAACCATT	CCDS32619.1																																																																																				0.485	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448649.2	0	NM_144975		17:33585831
INTS2	57508	broad.mit.edu	37	17	59969024	59969025	+	Frame_Shift_Ins	INS	-	-	CTTTTATATCTATTAACTTA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:59969024_59969025insCTTTTATATCTATTAACTTA	ENST00000444766.3	-	14	1823_1824	c.1748_1749insTAAGTTAATAGATATAAAAG	c.(1747-1749)gaafs	p.E583fs	INTS2_ENST00000251334.6_Frame_Shift_Ins_p.E575fs	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	583					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|intracellular (GO:0005622)|membrane (GO:0016020)				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAGTAGAGGTTTCACACAGCTG	0.337																																						ENST00000251334.6		NA																	0				NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						c.(1723-1725)gaafs		integrator complex subunit 2																																				SO:0001589	frameshift_variant	57508				snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	g.chr17:59969024_59969025insCTTTTATATCTATTAACTTA	AB033113	CCDS45750.1	17q23.2	2006-04-26	2006-03-15	2006-03-15		ENSG00000108506			29241	protein-coding gene	gene with protein product		611346	"""KIAA1287"""	KIAA1287		16239144	Standard	NR_026641		Approved	INT2	uc002izn.3	Q9H0H0		ENST00000444766.3:c.1748_1749insTAAGTTAATAGATATAAAAG	17.37:g.59969024_59969025insCTTTTATATCTATTAACTTA	ENSP00000414237:p.Glu583fs	True	False		Somatic	0				INTS2_ENST00000444766.3_Frame_Shift_Ins_p.E583fs	p.E575fs			WXS	Illumina HiSeq	Phase_I	Q9H0H0	INT2_HUMAN			14	2079_2080	-			583					Q9ULD3	Frame_Shift_Ins	INS	ENST00000444766.3	37	c.1724_1725insTAAGTTAATAGATATAAAAG	CCDS45750.1																																																																																				0.337	INTS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000445368.1	0	NM_020748		17:59969024
SLC38A10	124565	broad.mit.edu	37	17	79219501	79219503	+	In_Frame_Del	DEL	ATG	ATG	-	rs10569617|rs3833102|rs201518560	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:79219501_79219503delATG	ENST00000374759.3	-	16	3596_3598	c.3213_3215delCAT	c.(3211-3216)atcatt>att	p.1071_1072II>I		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	1071				Missing (in Ref. 5; AAG17235). {ECO:0000305}.	amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTTAAGGCCAATGATGACCCCAT	0.685														2114	0.422125	0.025	0.4712	5008	,	,		16375	0.6776		0.4364	False		,,,				2504	0.6462					ENST00000374759.3		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(3211-3216)atcatt>att		solute carrier family 38, member 10				353,3595		37,279,1658						-2.8	0.0		dbSNP_119	35	3598,4380		853,1892,1244	no	coding	SLC38A10	NM_001037984.1		890,2171,2902	A1A1,A1R,RR		45.099,8.9412,33.1293				3951,7975				SO:0001651	inframe_deletion	124565				amino acid transport|sodium ion transport	integral to membrane		g.chr17:79219501_79219503delATG	BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.3213_3215delCAT	17.37:g.79219504_79219506delATG	ENSP00000363891:p.Ile1072del	False	False		Somatic	2					p.1071_1072II>I	NM_001037984.1	NP_001033073.1	WXS	Illumina HiSeq	Phase_I	Q9HBR0	S38AA_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		16	3596_3598	-	all_neural(118;0.0804)|Melanoma(429;0.242)		1071	Missing (in Ref. 5; AAG17235).				Q6ZRC5|Q8NA99|Q96C66	In_Frame_Del	DEL	ENST00000374759.3	37	c.3213_3215delCAT	CCDS42397.1																																																																																				0.685	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397747.1	0	NM_138570		17:79219501
ZNF627	199692	broad.mit.edu	37	19	11727808	11727809	+	Frame_Shift_Ins	INS	-	-	TTTTCTT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:11727808_11727809insTTTTCTT	ENST00000361113.5	+	4	698_699	c.490_491insTTTTCTT	c.(490-492)ggafs	p.G164fs	ZNF627_ENST00000588174.1_3'UTR	NM_145295.3	NP_660338.1	Q7L945	ZN627_HUMAN	zinc finger protein 627	164					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						TCATCCTGGAGGAAAGCCCTAT	0.416																																					Melanoma(112;173 1614 10731 17751 23322)	ENST00000361113.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(490-492)ggafs		zinc finger protein 627																																				SO:0001589	frameshift_variant	199692				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11727808_11727809insTTTTCTT	AK074846	CCDS42502.1	19p13.2	2013-01-08				ENSG00000198551		"""Zinc fingers, C2H2-type"", ""-"""	30570	protein-coding gene	gene with protein product		612248				12477932	Standard	NM_145295		Approved	FLJ90365	uc002msk.2	Q7L945		Exception_encountered	19.37:g.11727808_11727809insTTTTCTT	ENSP00000354414:p.Gly164fs	True	False		Somatic	0				ZNF627_ENST00000588174.1_3'UTR	p.G164fs	NM_145295.3	NP_660338.1	WXS	Illumina HiSeq	Phase_I	Q7L945	ZN627_HUMAN			4	698_699	+			164					O14846|Q4KMP9|Q6NT81|Q9BRG4	Frame_Shift_Ins	INS	ENST00000361113.5	37	c.490_491insTTTTCTT	CCDS42502.1																																																																																				0.416	ZNF627-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458875.1	0	NM_145295		19:11727808
SYT14	255928	broad.mit.edu	37	1	210187063	210187064	+	Frame_Shift_Ins	INS	-	-	GAAACCCCAAACATTAAGTTAGCTTACTACCTTA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	ENST00000472886.1	+	3	161_162	c.147_148insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	c.(148-150)ttcfs	p.F50fs	SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000367015.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	50					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)			endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		TTAATAAGAAGTTCTGTTTTGA	0.351																																						ENST00000367015.1		NA																	0				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37						c.(34-36)ttcfs		synaptotagmin XIV																																				SO:0001589	frameshift_variant	255928					integral to membrane		g.chr1:210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	Exception_encountered	1.37:g.210187063_210187064insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	ENSP00000418901:p.Phe50fs	False	False		Somatic	0				SYT14_ENST00000367019.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000537238.1_Frame_Shift_Ins_p.F12fs|SYT14_ENST00000422431.1_Frame_Shift_Ins_p.F95fs|SYT14_ENST00000472886.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000534859.1_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000399639.2_Frame_Shift_Ins_p.F50fs|SYT14_ENST00000271745.7_3'UTR	p.F12fs			WXS	Illumina HiSeq	Phase_I	Q8NB59	SYT14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.085)	3	339_340	+			50					B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Frame_Shift_Ins	INS	ENST00000472886.1	37	c.33_34insGAAACCCCAAACATTAAGTTAGCTTACTACCTTA	CCDS31014.1																																																																																				0.351	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	0	NM_153262		1:210187063
KCNE1	3753	broad.mit.edu	37	21	35821678	35821679	+	In_Frame_Ins	INS	-	-	ACCTGATTT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:35821678_35821679insACCTGATTT	ENST00000337385.3	-	3	629_630	c.254_255insAAATCAGGT	c.(253-255)gat>gaAAATCAGGTt	p.85_85D>ENQV	KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	85			D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential compared to the wild- type channel; dbSNP:rs1805128). {ECO:0000269|PubMed:15051636, ECO:0000269|PubMed:16823764, ECO:0000269|PubMed:8899564}.		cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular response to cAMP (GO:0071320)|membrane repolarization (GO:0086009)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|protein N-linked glycosylation (GO:0006487)|protein O-linked glycosylation (GO:0006493)|regulation of delayed rectifier potassium channel activity (GO:1902259)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	potassium channel regulator activity (GO:0015459)|telethonin binding (GO:0031433)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	CTTGCCAGGCATCGGACTCGAT	0.55																																						ENST00000337385.3		NA																	0				large_intestine(4)|lung(1)|ovary(2)	7						c.(253-255)gat>gaAAATCAGGTt		potassium voltage-gated channel, Isk-related family, member 1	Indapamide(DB00808)																																			SO:0001652	inframe_insertion	3753				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity	g.chr21:35821678_35821679insACCTGATTT	L28168	CCDS13636.1	21q22.1-q22.2	2014-09-17			ENSG00000180509	ENSG00000180509		"""Potassium channels"""	6240	protein-coding gene	gene with protein product		176261				8432548	Standard	NM_001127670		Approved	minK, ISK, JLNS2, LQT5	uc010gmp.4	P15382	OTTHUMG00000086236	ENST00000337385.3:c.254_255insAAATCAGGT	21.37:g.35821678_35821679insACCTGATTT	ENSP00000337255:p.Asp85delinsGluAsnGlnVal	False	False		Somatic	0				KCNE1_ENST00000399286.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399284.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000416357.2_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000432085.1_In_Frame_Ins_p.85_85D>ENQV|KCNE1_ENST00000399289.3_In_Frame_Ins_p.85_85D>ENQV	p.85_85D>ENQV	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	WXS	Illumina HiSeq	Phase_I	P15382	KCNE1_HUMAN			3	629_630	-			85		D -> N (predisposes to acquired LQT5 susceptibility; shows a significant difference in current density and midpoint potential between the mutant and the wildt-ype channels; dbSNP:rs1805128).			A5H1P2|Q8N709|Q91Z94	In_Frame_Ins	INS	ENST00000337385.3	37	c.254_255insAAATCAGGT	CCDS13636.1																																																																																				0.550	KCNE1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194155.1	0			21:35821678
KRTAP10-6	386674	broad.mit.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515					ENST00000400368.1		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						c.(145-147)ccg>ccCAGCTGCTGCGCCCCg		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered	True	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.49_49P>PSCCAP	NM_198688.2	NP_941961.2	WXS	Illumina HiSeq	Phase_I	P60371	KR106_HUMAN			1	166_167	-			49			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.146_147insCAGCTGCTGCGCCCC	CCDS42959.1																																																																																				0.688	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	0	NM_198688		21:46012219
RAB4A	5867	broad.mit.edu	37	1	229424583	229424584	+	Frame_Shift_Ins	INS	-	-	AGCATATTTAATTTTAGAACATTAACAGGCTTATA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:229424583_229424584insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	ENST00000366690.4	+	3	428_429	c.220_221insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	c.(220-222)cgafs	p.R74fs	RAB4A_ENST00000473894.1_Intron	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	74					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				AGGACAAGAACGATTCAGGTAG	0.302																																					Esophageal Squamous(11;250 603 9619 16563)	ENST00000366690.4		NA																	0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						c.(220-222)cgafs		RAB4A, member RAS oncogene family																																				SO:0001589	frameshift_variant	5867						GDP binding|GTP binding|GTPase activity	g.chr1:229424583_229424584insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	Exception_encountered	1.37:g.229424583_229424584insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	ENSP00000355651:p.Arg74fs	False	False		Somatic	0				RAB4A_ENST00000473894.1_Intron	p.R74fs	NM_004578.2	NP_004569.2	WXS	Illumina HiSeq	Phase_I	P20338	RAB4A_HUMAN			3	428_429	+	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)	69					Q5T7P7|Q9BQ44	Frame_Shift_Ins	INS	ENST00000366690.4	37	c.220_221insAGCATATTTAATTTTAGAACATTAACAGGCTTATA	CCDS31050.1																																																																																				0.302	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091727.3	0	NM_004578		1:229424583
ANKRD54	129138	broad.mit.edu	37	22	38243711	38243757	+	Intron	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	rs571768451|rs538871264|rs557855135|rs369207831|rs551625430		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000609454.1	-	1	391				EIF3L_ENST00000412331.2_5'Flank|MIR659_ENST00000384963.1_RNA|EIF3L_ENST00000381683.6_5'Flank|EIF3L_ENST00000406934.1_5'Flank			Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421																																						ENST00000384963.1		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000609454.1:c.26+1186ACCTTCCCTGAACCAAGGAAGAGTCACAGTCTCTTCCTTGGTTCAGG>-	22.37:g.38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT		False	False		Somatic	1						NR_030396.1		WXS	Illumina HiSeq	Phase_I					0	24_70	-			NA					Q6ZSB1|Q9UGV1	RNA	DEL	ENST00000609454.1	37																																																																																						0.421	ANKRD54-013	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000472272.1	0	NM_138797		22:38243711
COX7A2L	9167	broad.mit.edu	37	2	42580484	42580485	+	Splice_Site	INS	-	-	TTA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:42580484_42580485insTTA	ENST00000378669.1	-	3	902		c.e3-1		COX7A2L_ENST00000234301.2_Splice_Site|COX7A2L_ENST00000463055.1_Splice_Site|COX7A2L_ENST00000482463.1_Splice_Site			O14548	COX7R_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 like						cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			lung(4)	4						GCTTTAATCCCTGTAGAGAAAA	0.441																																						ENST00000378669.1		NA																	0				lung(4)	4						c.e3-1		cytochrome c oxidase subunit VIIa polypeptide 2 like																																				SO:0001630	splice_region_variant	9167				respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr2:42580484_42580485insTTA	AB007618	CCDS1808.1	2p21	2010-06-14			ENSG00000115944	ENSG00000115944			2289	protein-coding gene	gene with protein product		605771				9418891	Standard	NM_004718		Approved	EB1, COX7RP, COX7AR, SIG81	uc002rsk.3	O14548	OTTHUMG00000128605	ENST00000378669.1:c.73-1->TAA	2.37:g.42580484_42580485insTTA		True	False		Somatic	0				COX7A2L_ENST00000463055.1_Splice_Site|COX7A2L_ENST00000482463.1_Splice_Site|COX7A2L_ENST00000234301.2_Splice_Site				WXS	Illumina HiSeq	Phase_I	O14548	COX7R_HUMAN			3	902	-			NA					Q9P118	Splice_Site	INS	ENST00000378669.1	37		CCDS1808.1																																																																																				0.441	COX7A2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250466.3	0	NM_004718	Intron	2:42580484
TTLL4	9654	broad.mit.edu	37	2	219604884	219604885	+	Frame_Shift_Ins	INS	-	-	TCACAGTT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:219604884_219604885insTCACAGTT	ENST00000392102.1	+	4	1931_1932	c.1591_1592insTCACAGTT	c.(1591-1593)gagfs	p.E531fs	TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.E531fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.E366fs|TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.E531fs	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	531					protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)|tubulin binding (GO:0015631)			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAATGAAGAGGAGGAGGGTGAG	0.475																																					GBM(172;1818 2053 15407 20943 49753)	ENST00000392102.1		NA																	0				endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1591-1593)gagfs		tubulin tyrosine ligase-like family, member 4																																				SO:0001589	frameshift_variant	9654				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity	g.chr2:219604884_219604885insTCACAGTT		CCDS2422.1	2p24.3-p24.1	2013-02-14			ENSG00000135912	ENSG00000135912		"""Tubulin tyrosine ligase-like family"""	28976	protein-coding gene	gene with protein product						11054573	Standard	NM_014640		Approved	KIAA0173	uc002viy.3	Q14679	OTTHUMG00000133081	Exception_encountered	2.37:g.219604884_219604885insTCACAGTT	ENSP00000375951:p.Glu531fs	True	False		Somatic	0				TTLL4_ENST00000258398.4_Frame_Shift_Ins_p.E531fs|TTLL4_ENST00000457313.1_Frame_Shift_Ins_p.E366fs|TTLL4_ENST00000442769.1_Frame_Shift_Ins_p.E531fs	p.E531fs	NM_014640.4	NP_055455.3	WXS	Illumina HiSeq	Phase_I	Q14679	TTLL4_HUMAN		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)	4	1931_1932	+		Renal(207;0.0915)	531					A8K6V5|Q8WW29	Frame_Shift_Ins	INS	ENST00000392102.1	37	c.1591_1592insTCACAGTT	CCDS2422.1																																																																																				0.475	TTLL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256726.1	0	NM_014640		2:219604884
GTF2E1	2960	broad.mit.edu	37	3	120469592	120469593	+	Frame_Shift_Ins	INS	-	-	TACTG			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:120469592_120469593insTACTG	ENST00000283875.5	+	2	286_287	c.193_194insTACTG	c.(193-195)aatfs	p.N65fs		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	65	HTH TFE/IIEalpha-type. {ECO:0000255|PROSITE-ProRule:PRU00676}.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGTTTTGAATAATTTAAAGGGA	0.431																																						ENST00000283875.5		NA																	0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22						c.(193-195)aatfs		general transcription factor IIE, polypeptide 1, alpha 56kDa																																				SO:0001589	frameshift_variant	2960				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	g.chr3:120469592_120469593insTACTG	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	Exception_encountered	3.37:g.120469592_120469593insTACTG	ENSP00000283875:p.Asn65fs	True	False		Somatic	0					p.N65fs	NM_005513.2	NP_005504.2	WXS	Illumina HiSeq	Phase_I	P29083	T2EA_HUMAN		GBM - Glioblastoma multiforme(114;0.159)	2	286_287	+			65			HTH TFE/IIEalpha-type.		Q16103	Frame_Shift_Ins	INS	ENST00000283875.5	37	c.193_194insTACTG	CCDS3002.1																																																																																				0.431	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	0	NM_005513		3:120469592
ATP2C1	27032	broad.mit.edu	37	3	130672697	130672698	+	Frame_Shift_Ins	INS	-	-	TATCAAAACCATCACTCTAA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:130672697_130672698insTATCAAAACCATCACTCTAA	ENST00000510168.1	+	9	1114_1115	c.564_565insTATCAAAACCATCACTCTAA	c.(565-567)acafs	p.T189fs	ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	189					actin cytoskeleton reorganization (GO:0031532)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cellular calcium ion homeostasis (GO:0006874)|cellular manganese ion homeostasis (GO:0030026)|epidermis development (GO:0008544)|Golgi calcium ion homeostasis (GO:0032468)|Golgi calcium ion transport (GO:0032472)|ion transmembrane transport (GO:0034220)|manganese ion transmembrane transport (GO:0071421)|manganese ion transport (GO:0006828)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-transporting ATPase activity (GO:0005388)|manganese ion binding (GO:0030145)|manganese-transporting ATPase activity (GO:0015410)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGTCCAGCTTGACAGGTGAGAC	0.431									Hailey-Hailey disease																												Esophageal Squamous(99;456 1443 27647 34099 42636)	ENST00000510168.1		NA																	0				breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39						c.(565-567)acafs		ATPase, Ca++ transporting, type 2C, member 1	Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)																																			SO:0001589	frameshift_variant	27032	Hailey-Hailey disease	Familial Cancer Database	HHD, Familial Benign Chronic Pemphigus, Benign Familial Pemphigus	actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity	g.chr3:130672697_130672698insTATCAAAACCATCACTCTAA	AF181120	CCDS33856.1, CCDS46912.1, CCDS46913.1, CCDS46914.1, CCDS56278.1, CCDS56279.1, CCDS56280.1, CCDS56281.1, CCDS75006.1	3q21.3	2012-10-22			ENSG00000017260	ENSG00000017260	3.6.3.8	"""ATPases / P-type"""	13211	protein-coding gene	gene with protein product	"""secretory pathway Ca2+/Mn2+ ATPase 1"", ""calcium-transporting ATPase type 2C member 1"""	604384	"""benign chronic pemphigus (Hailey-Hailey disease)"""	BCPM		10615129, 10767338	Standard	NM_001001485		Approved	KIAA1347, ATP2C1A, PMR1, SPCA1	uc011bli.2	P98194	OTTHUMG00000136802	Exception_encountered	3.37:g.130672697_130672698insTATCAAAACCATCACTCTAA	ENSP00000427461:p.Thr189fs	False	False		Somatic	0				ATP2C1_ENST00000504381.1_Frame_Shift_Ins_p.T134fs|ATP2C1_ENST00000504948.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000507488.2_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000505330.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000428331.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000359644.3_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000513801.1_Frame_Shift_Ins_p.T173fs|ATP2C1_ENST00000328560.8_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000393221.4_Frame_Shift_Ins_p.T223fs|ATP2C1_ENST00000508532.1_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000422190.2_Frame_Shift_Ins_p.T189fs|ATP2C1_ENST00000533801.2_Frame_Shift_Ins_p.T184fs	p.T189fs			WXS	Illumina HiSeq	Phase_I	P98194	AT2C1_HUMAN			9	1114_1115	+			189					B2RAT7|B4DSW3|B7Z3X9|G3XAH8|G8JLN9|O76005|Q86V72|Q86V73|Q8N6V1|Q8NCJ7	Frame_Shift_Ins	INS	ENST00000510168.1	37	c.564_565insTATCAAAACCATCACTCTAA	CCDS46914.1																																																																																				0.431	ATP2C1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356648.2	0	NM_001001486		3:130672697
NLGN1	22871	broad.mit.edu	37	3	173993296	173993297	+	Frame_Shift_Ins	INS	-	-	TGAAAAATATAAATTTA	rs143069241		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:173993296_173993297insTGAAAAATATAAATTTA	ENST00000457714.1	+	5	1267_1268	c.838_839insTGAAAAATATAAATTTA	c.(838-840)cgtfs	p.R280fs	NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.R280fs|NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.R280fs|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.R320fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	297					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGAAGGTAACCGTTGGAGCAAT	0.421																																						ENST00000457714.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(838-840)cgtfs		neuroligin 1																																				SO:0001589	frameshift_variant	22871				calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity	g.chr3:173993296_173993297insTGAAAAATATAAATTTA	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	Exception_encountered	3.37:g.173993296_173993297insTGAAAAATATAAATTTA	ENSP00000392500:p.Arg280fs	False	False		Somatic	0				NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.R280fs|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.R320fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.R280fs	p.R280fs	NM_014932.2	NP_055747.1	WXS	Illumina HiSeq	Phase_I	Q8N2Q7	NLGN1_HUMAN	LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)		5	1267_1268	+	Ovarian(172;0.0025)		297					Q9UPT2	Frame_Shift_Ins	INS	ENST00000457714.1	37	c.838_839insTGAAAAATATAAATTTA	CCDS3222.1																																																																																				0.421	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	0	NM_014932		3:173993296
HMGB4	127540	broad.mit.edu	37	1	34329926	34329927	+	In_Frame_Ins	INS	-	-	CTGTAC			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:34329926_34329927insCTGTAC	ENST00000522796.1	+	4	2039_2040	c.134_135insCTGTAC	c.(133-138)tgttcg>tgCTGTACttcg	p.45_46CS>CCTS	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_In_Frame_Ins_p.45_46CS>CCTS			Q8WW32	HMGB4_HUMAN	high mobility group box 4	45						chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCTAGAAAGTGTTCGGAAAAAT	0.396																																						ENST00000522796.1		NA																	0				NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(133-138)tgttcg>tgCTGTACttcg		high mobility group box 4																																				SO:0001652	inframe_insertion	127540					nucleus	DNA binding	g.chr1:34329926_34329927insCTGTAC		CCDS30668.1	1p35.1	2011-07-01	2011-04-05		ENSG00000176256	ENSG00000176256		"""High-mobility group / Canonical"""	24954	protein-coding gene	gene with protein product			"""high-mobility group box 4"""				Standard	NR_033264		Approved	FLJ40388	uc001bxp.3	Q8WW32	OTTHUMG00000013143	Exception_encountered	1.37:g.34329926_34329927insCTGTAC	ENSP00000430919:p.Cys45_Ser46insCysThr	False	False		Somatic	0				HMGB4_ENST00000425537.1_3'UTR|CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000519684.1_In_Frame_Ins_p.45_46CS>CCTS	p.45_46CS>CCTS			WXS	Illumina HiSeq	Phase_I	B2R4X7	B2R4X7_HUMAN			4	2039_2040	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)	45					B2R4X7|Q0QWA4	In_Frame_Ins	INS	ENST00000522796.1	37	c.134_135insCTGTAC	CCDS30668.1																																																																																				0.396	HMGB4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375773.1	0	NM_145205		1:34329926
CLGN	1047	broad.mit.edu	37	4	141320151	141320154	+	Frame_Shift_Del	DEL	TGTT	TGTT	-	rs145227876		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	TGTT	TGTT	-	-	TGTT	TGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:141320151_141320154delTGTT	ENST00000325617.5	-	8	1175_1178	c.735_738delAACA	c.(733-738)caaacafs	p.QT245fs	CLGN_ENST00000537281.1_Frame_Shift_Del_p.QT245fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.QT245fs	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	245					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TGTTTACAACTGTTTGATCAACTA	0.353																																						ENST00000325617.5		NA																	0				breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(733-738)caaacafs		calmegin																																				SO:0001589	frameshift_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141320151_141320154delTGTT	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.735_738delAACA	4.37:g.141320151_141320154delTGTT	ENSP00000326699:p.Gln245fs	True	False		Somatic	1				CLGN_ENST00000537281.1_Frame_Shift_Del_p.QT245fs|CLGN_ENST00000414773.1_Frame_Shift_Del_p.QT245fs	p.QT245fs	NM_004362.2	NP_004353.1	WXS	Illumina HiSeq	Phase_I	O14967	CLGN_HUMAN			8	1175_1178	-	all_hematologic(180;0.162)		245					B3KS90|B4DXV8|D3DNY8	Frame_Shift_Del	DEL	ENST00000325617.5	37	c.735_738delAACA	CCDS3751.1																																																																																				0.353	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	0	NM_004362		4:141320151
TLL1	7092	broad.mit.edu	37	4	167021967	167021968	+	Frame_Shift_Ins	INS	-	-	ACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:167021967_167021968insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	ENST00000061240.2	+	21	3628_3629	c.2981_2982insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	c.(2980-2985)aagggafs	p.G995fs	TLL1_ENST00000507499.1_Frame_Shift_Ins_p.G1018fs	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	995	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATCAACAAGAAGGGATTTCATA	0.337																																						ENST00000061240.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(2980-2985)aagggafs		tolloid-like 1																																				SO:0001589	frameshift_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167021967_167021968insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	Exception_encountered	4.37:g.167021967_167021968insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	ENSP00000061240:p.Gly995fs	True	False		Somatic	0				TLL1_ENST00000507499.1_Frame_Shift_Ins_p.G1018fs	p.G995fs	NM_012464.4	NP_036596.3	WXS	Illumina HiSeq	Phase_I	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	21	3628_3629	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	995			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Frame_Shift_Ins	INS	ENST00000061240.2	37	c.2981_2982insACATGATTGCAAGGAAGGTATGGAACGGAATACACTTTTTTTGACAACAT	CCDS3811.1																																																																																				0.337	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1	0			4:167021967
FAT4	79633	broad.mit.edu	37	4	126241496	126241502	+	Frame_Shift_Del	DEL	CAATACC	CAATACC	-			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CAATACC	CAATACC	-	-	CAATACC	CAATACC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:126241496_126241502delCAATACC	ENST00000394329.3	+	1	3943_3949	c.3930_3936delCAATACC	c.(3928-3936)gacaataccfs	p.DNT1310fs		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1310	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T1312S(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATGAAAATGACAATACCCCTTCTTTCC	0.391																																						ENST00000394329.3		NA																	2	Substitution - Missense(2)	p.T1312S(2)	lung(2)	NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(3928-3936)gacaataccfs		FAT atypical cadherin 4																																				SO:0001589	frameshift_variant	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126241496_126241502delCAATACC	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.3930_3936delCAATACC	4.37:g.126241496_126241502delCAATACC	ENSP00000377862:p.Asp1310fs	False	False		Somatic	1					p.DNT1310fs	NM_024582.4	NP_078858.4	WXS	Illumina HiSeq	Phase_I	Q6V0I7	FAT4_HUMAN			1	3943_3949	+			1310			Cadherin 12.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Frame_Shift_Del	DEL	ENST00000394329.3	37	c.3930_3936delCAATACC	CCDS3732.3																																																																																				0.391	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	0	NM_024582		4:126241496
SKIV2L2	23517	broad.mit.edu	37	5	54618274	54618275	+	Frame_Shift_Ins	INS	-	-	ATGTTTTA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:54618274_54618275insATGTTTTA	ENST00000230640.5	+	2	508_509	c.254_255insATGTTTTA	c.(253-258)tcaatafs	p.I86fs	SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	86					maturation of 5.8S rRNA (GO:0000460)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATAGAAGAGTCAATAACTGAAG	0.327																																					Melanoma(2;92 134 23744 29976 33782)	ENST00000230640.5		NA																	0				NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(253-258)tcaatafs		superkiller viralicidic activity 2-like 2 (S. cerevisiae)																																				SO:0001589	frameshift_variant	23517				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr5:54618274_54618275insATGTTTTA	D29641	CCDS3967.1	5q11.2	2008-11-25	2005-02-18	2005-02-18	ENSG00000039123	ENSG00000039123			18734	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 118"""		"""KIAA0052"""	KIAA0052			Standard	NM_015360		Approved	Mtr4, Dob1, fSAP118	uc003jpy.4	P42285	OTTHUMG00000097019	Exception_encountered	5.37:g.54618274_54618275insATGTTTTA	ENSP00000230640:p.Ile86fs	False	False		Somatic	0				SKIV2L2_ENST00000545714.1_Intron|SKIV2L2_ENST00000504388.1_3'UTR	p.I86fs	NM_015360.4	NP_056175.3	WXS	Illumina HiSeq	Phase_I	P42285	SK2L2_HUMAN			2	508_509	+		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)	86					Q2M386|Q6MZZ8|Q6P170|Q8N5R0|Q8TAG2	Frame_Shift_Ins	INS	ENST00000230640.5	37	c.254_255insATGTTTTA	CCDS3967.1																																																																																				0.327	SKIV2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214108.1	0			5:54618274
WDR41	55255	broad.mit.edu	37	5	76785382	76785383	+	In_Frame_Ins	INS	-	-	TTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:76785382_76785383insTTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC	ENST00000296679.4	-	2	441_442	c.66_67insGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAA	c.(64-69)cagaca>cagGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAAaca	p.21_22insQVFNIKFPKTSS	WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	NM_018268.2	NP_060738.2	Q9HAD4	WDR41_HUMAN	WD repeat domain 41	21						lysosomal membrane (GO:0005765)				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)		TCACCTATTGTCTGTAAAGGAG	0.322																																						ENST00000296679.4		NA																	0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)	14						c.(64-69)cagaca>cagGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAAaca		WD repeat domain 41																																				SO:0001652	inframe_insertion	55255							g.chr5:76785382_76785383insTTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC	AF115511	CCDS4038.1	5q14	2013-01-09			ENSG00000164253	ENSG00000164253		"""WD repeat domain containing"""	25601	protein-coding gene	gene with protein product						12477932	Standard	NM_018268		Approved	FLJ10904	uc003kff.1	Q9HAD4	OTTHUMG00000102169	ENST00000296679.4:c.66_67insGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAA	5.37:g.76785382_76785383insTTGGGAAGAGGTTTTAGGGAATTTTATGTTAAACAC	ENSP00000296679:p.Leu21_Gln22insGlnValPheAsnIleLysPheProLysThrSerSer	False	False		Somatic	0				WDR41_ENST00000507029.1_Intron|WDR41_ENST00000414719.2_5'UTR	p.21_22insQVFNIKFPKTSS	NM_018268.2	NP_060738.2	WXS	Illumina HiSeq	Phase_I	Q9HAD4	WDR41_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.3e-50)|Epithelial(54;2.04e-44)|all cancers(79;6.84e-40)	2	441_442	-		all_lung(232;0.000961)|Lung NSC(167;0.0011)|Ovarian(174;0.0105)|Prostate(461;0.059)	21					B4DT55|Q7Z792|Q8IWG3|Q8IXA9|Q8NDA7|Q9NV62	In_Frame_Ins	INS	ENST00000296679.4	37	c.66_67insGTGTTTAACATAAAATTCCCTAAAACCTCTTCCCAA	CCDS4038.1																																																																																				0.322	WDR41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220014.2	0	NM_018268		5:76785382
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
SLC27A6	28965	broad.mit.edu	37	5	128302126	128302127	+	Frame_Shift_Ins	INS	-	-	GAAG			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:128302126_128302127insGAAG	ENST00000262462.4	+	1	1306_1307	c.296_297insGAAG	c.(295-300)cattccfs	p.HS99fs	SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.HS99fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.HS99fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	99					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TTCCTGAACCATTCCTCTCTGA	0.54																																						ENST00000262462.4		NA																	0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(295-300)cattccfs		solute carrier family 27 (fatty acid transporter), member 6																																				SO:0001589	frameshift_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302126_128302127insGAAG	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	Exception_encountered	5.37:g.128302126_128302127insGAAG	ENSP00000262462:p.His99fs	False	False		Somatic	0				SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.HS99fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.HS99fs	p.HS99fs			WXS	Illumina HiSeq	Phase_I	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1306_1307	+		all_cancers(142;0.0483)|Prostate(80;0.055)	99					Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Ins	INS	ENST00000262462.4	37	c.296_297insGAAG	CCDS4145.1																																																																																				0.540	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	0	NM_014031		5:128302126
SLC27A6	28965	broad.mit.edu	37	5	128302127	128302128	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:128302127_128302128insCA	ENST00000262462.4	+	1	1307_1308	c.297_298insCA	c.(298-300)tccfs	p.S100fs	SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.S100fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.S100fs			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	100					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCCTGAACCATTCCTCTCTGAA	0.545																																						ENST00000262462.4		NA																	0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(298-300)tccfs		solute carrier family 27 (fatty acid transporter), member 6																																				SO:0001589	frameshift_variant	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128302127_128302128insCA	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	Exception_encountered	5.37:g.128302127_128302128insCA	ENSP00000262462:p.Ser100fs	False	False		Somatic	0				SLC27A6_ENST00000506176.1_Frame_Shift_Ins_p.S100fs|SLC27A6_ENST00000395266.1_Frame_Shift_Ins_p.S100fs	p.S100fs			WXS	Illumina HiSeq	Phase_I	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	1	1307_1308	+		all_cancers(142;0.0483)|Prostate(80;0.055)	100					Q6IAM5|Q7Z6E6|Q86YF6	Frame_Shift_Ins	INS	ENST00000262462.4	37	c.297_298insCA	CCDS4145.1																																																																																				0.545	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	0	NM_014031		5:128302127
TIGD6	81789	broad.mit.edu	37	5	149375053	149375054	+	In_Frame_Ins	INS	-	-	AGGCAG			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149375053_149375054insAGGCAG	ENST00000296736.3	-	2	1632_1633	c.858_859insCTGCCT	c.(856-861)tgctct>tgcCTGCCTtct	p.286_287CS>CLPS	TIGD6_ENST00000515406.2_In_Frame_Ins_p.286_287CS>CLPS	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	286	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTATGAGCAGAGCAGTTGTCTA	0.505																																						ENST00000296736.3		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10						c.(856-861)tgctct>tgcCTGCCTtct		tigger transposable element derived 6																																				SO:0001652	inframe_insertion	81789				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	g.chr5:149375053_149375054insAGGCAG	AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.858_859insCTGCCT	5.37:g.149375053_149375054insAGGCAG	ENSP00000296736:p.Cys286_Ser287insLeuPro	True	False		Somatic	0				TIGD6_ENST00000515406.2_In_Frame_Ins_p.286_287CS>CLPS	p.286_287CS>CLPS	NM_030953.3	NP_112215.1	WXS	Illumina HiSeq	Phase_I	Q17RP2	TIGD6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		2	1632_1633	-			286			DDE.		B3KTZ8|Q96MQ4|Q9H0X7	In_Frame_Ins	INS	ENST00000296736.3	37	c.858_859insCTGCCT	CCDS4301.1																																																																																				0.505	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252324.1	0	NM_030953		5:149375053
GABRB2	2561	broad.mit.edu	37	5	160886786	160886787	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:160886786_160886787insTT	ENST00000393959.1	-	4	300_301	c.301_302insAA	c.(301-303)atafs	p.I101fs	GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000274547.2_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000520240.1_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000517901.1_Frame_Shift_Ins_p.I38fs			P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	101					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|GABA-A receptor activity (GO:0004890)|inhibitory extracellular ligand-gated ion channel activity (GO:0005237)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTTTAAAGGTATTACATTATAG	0.401																																						ENST00000393959.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26						c.(301-303)atafs		gamma-aminobutyric acid (GABA) A receptor, beta 2	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)																																			SO:0001589	frameshift_variant	0				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity	g.chr5:160886786_160886787insTT		CCDS4354.1, CCDS4355.1	5q34	2012-06-22			ENSG00000145864	ENSG00000145864		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4082	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 2"""	600232				7851879	Standard	NM_000813		Approved		uc003lys.1	P47870	OTTHUMG00000130349	ENST00000393959.1:c.300_301dupAA	5.37:g.160886787_160886788dupTT	ENSP00000377531:p.Ile101fs	False	False		Somatic	2				GABRB2_ENST00000517901.1_Frame_Shift_Ins_p.I38fs|GABRB2_ENST00000517547.1_Intron|GABRB2_ENST00000353437.6_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000274547.2_Frame_Shift_Ins_p.I101fs|GABRB2_ENST00000520240.1_Frame_Shift_Ins_p.I101fs	p.I101fs			WXS	Illumina HiSeq	Phase_I	P47870	GBRB2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		4	300_301	-	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	101					A8K115|A8K1A0|D1LYT0|D1LYT1|Q16323|Q4FZB2	Frame_Shift_Ins	INS	ENST00000393959.1	37	c.301_302insAA	CCDS4355.1																																																																																				0.401	GABRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252704.1	0			5:160886786
GPR6	2830	broad.mit.edu	37	6	110300376	110300435	+	In_Frame_Del	DEL	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	rs375711945|rs573522362		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	-	-	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	GCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENST00000275169.3	+	1	79_138	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel	p.AAAAATAAGGPDTGEWGPPA21del	GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	NM_005284.3	NP_005275.1	P46095	GPR6_HUMAN	G protein-coupled receptor 6	21	Poly-Ala.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		ggccgaaggagcggcggcggcggccacagcagcaggggggccggACACGGGCGAATGGGGACCCCCTGCTGCGGCGGCTC	0.712																																						ENST00000275169.3		NA																	0				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18						c.(61-120)gcggcggcggcggccacagcagcaggggggccggacacgggcgaatggggaccccctgctdel		G protein-coupled receptor 6																																				SO:0001651	inframe_deletion	0					integral to plasma membrane		g.chr6:110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT		CCDS5079.1, CCDS69172.1	6q21	2012-08-21				ENSG00000146360		"""GPCR / Class A : Orphans"""	4515	protein-coding gene	gene with protein product		600553				8530049	Standard	NM_001286099		Approved		uc003ptu.3	P46095	OTTHUMG00000015354	ENST00000275169.3:c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	6.37:g.110300376_110300435delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	ENSP00000275169:p.Ala21_Ala40del	True	False		Somatic	1				GPR6_ENST00000414000.2_In_Frame_Del_p.AAAAATAAGGPDTGEWGPPA36del	p.AAAAATAAGGPDTGEWGPPA21del	NM_005284.3	NP_005275.1	WXS	Illumina HiSeq	Phase_I	P46095	GPR6_HUMAN		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)	1	79_138	+		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)	21			Poly-Ala.		B4DHS9|J3KQR3|Q17RJ7|Q5SYL0	In_Frame_Del	DEL	ENST00000275169.3	37	c.61_120delGCGGCGGCGGCGGCCACAGCAGCAGGGGGGCCGGACACGGGCGAATGGGGACCCCCTGCT	CCDS5079.1																																																																																				0.712	GPR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041774.1	0			6:110300376
LTV1	84946	broad.mit.edu	37	6	144184326	144184327	+	Frame_Shift_Ins	INS	-	-	TACTAGAGTTACTTCT			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:144184326_144184327insTACTAGAGTTACTTCT	ENST00000367576.5	+	10	1354_1355	c.1220_1221insTACTAGAGTTACTTCT	c.(1219-1224)ggcagtfs	p.S408fs	ZC2HC1B_ENST00000539295.1_5'Flank|ZC2HC1B_ENST00000237275.6_5'Flank	NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 ribosome biogenesis factor	408						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		ATGATTAATGGCAGTGATCTTC	0.351																																						ENST00000367576.5		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13						c.(1219-1224)ggcagtfs		LTV1 homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	84946							g.chr6:144184326_144184327insTACTAGAGTTACTTCT	BC009855	CCDS5201.1	6q24.2	2014-02-03	2014-02-03	2006-02-06	ENSG00000135521	ENSG00000135521			21173	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 93"", ""LTV1 homolog (S. cerevisiae)"""	C6orf93			Standard	NM_032860		Approved	FLJ14909, dJ468K18.4	uc003qjs.3	Q96GA3	OTTHUMG00000015733	Exception_encountered	6.37:g.144184326_144184327insTACTAGAGTTACTTCT	ENSP00000356548:p.Ser408fs	False	False		Somatic	0					p.S408fs	NM_032860.3	NP_116249.2	WXS	Illumina HiSeq	Phase_I	Q96GA3	LTV1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)	10	1354_1355	+			408					Q96JX8	Frame_Shift_Ins	INS	ENST00000367576.5	37	c.1220_1221insTACTAGAGTTACTTCT	CCDS5201.1																																																																																				0.351	LTV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042532.1	0	NM_032860		6:144184326
ST6GALNAC3	256435	broad.mit.edu	37	1	76878080	76878081	+	Frame_Shift_Ins	INS	-	-	GCAAAAG			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:76878080_76878081insGCAAAAG	ENST00000328299.3	+	3	749_750	c.601_602insGCAAAAG	c.(601-603)aagfs	p.K201fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	201					glycoprotein metabolic process (GO:0009100)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide metabolic process (GO:0006677)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sialyltransferase activity (GO:0008373)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						TGGAGTTTTTAAGAAGGAAACT	0.396																																						ENST00000328299.3		NA																	0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						c.(601-603)aagfs		ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3																																				SO:0001589	frameshift_variant	256435				protein glycosylation	integral to Golgi membrane	sialyltransferase activity	g.chr1:76878080_76878081insGCAAAAG		CCDS672.1	1p31.1	2013-03-01	2005-02-07	2005-02-07	ENSG00000184005	ENSG00000184005		"""Sialyltransferases"""	19343	protein-coding gene	gene with protein product	"""ST6GALNAC III"""	610133	"""sialyltransferase 7 ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase) C"""	SIAT7C			Standard	NM_152996		Approved		uc001dhh.2	Q8NDV1	OTTHUMG00000009615	Exception_encountered	1.37:g.76878080_76878081insGCAAAAG	ENSP00000329214:p.Lys201fs	False	False		Somatic	0				ST6GALNAC3_ENST00000464140.1_3'UTR	p.K201fs	NM_152996.2	NP_694541.2	WXS	Illumina HiSeq	Phase_I	Q8NDV1	SIA7C_HUMAN			3	749_750	+			201					Q6PCE0|Q6UX29|Q8N259	Frame_Shift_Ins	INS	ENST00000328299.3	37	c.601_602insGCAAAAG	CCDS672.1																																																																																				0.396	ST6GALNAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026501.1	0	NM_152996		1:76878080
PRSS58	136541	broad.mit.edu	37	7	141957584	141957585	+	De_novo_Start_OutOfFrame	INS	-	-	GCATCATTCC			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr7:141957584_141957585insGCATCATTCC	ENST00000552471.1	-	0	262_263				PRSS58_ENST00000547058.2_Intron			Q8IYP2	PRS58_HUMAN	protease, serine, 58							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AAGAGAGAGAGAAAACAACTAA	0.361																																						ENST00000552471.1		NA																	0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19								protease, serine, 58																																						136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141957584_141957585insGCATCATTCC		CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.-58->GGAATGATGC	7.37:g.141957584_141957585insGCATCATTCC		True	False		Somatic	0				PRSS58_ENST00000547058.2_Intron				WXS	Illumina HiSeq	Phase_I	Q8IYP2	PRS58_HUMAN			0	262_263	-			NA					B3KVJ6|D3DXD2	Translation_Start_Site	INS	ENST00000552471.1	37		CCDS5871.1																																																																																				0.361	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	0	NM_001001317		7:141957584
RMDN1	51115	broad.mit.edu	37	8	87487163	87487164	+	In_Frame_Ins	INS	-	-	AGGCACTATTAAATGGTGAATTAAGAA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:87487163_87487164insAGGCACTATTAAATGGTGAATTAAGAA	ENST00000406452.3	-	9	938_939	c.779_780insTTCTTAATTCACCATTTAATAGTGCCT	c.(778-780)agc>agTTCTTAATTCACCATTTAATAGTGCCTc	p.260_261insS*FTI**CL	RMDN1_ENST00000430676.2_In_Frame_Ins_p.230_231insS*FTI**CL|RMDN1_ENST00000519966.1_Intron|RMDN1_ENST00000523911.1_Intron	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	260						microtubule (GO:0005874)|mitochondrion (GO:0005739)											GTAAGTTTTTGCTGTAGAAGTT	0.356																																						ENST00000406452.3		NA																	0					NA						c.(778-780)agc>agTTCTTAATTCACCATTTAATAGTGCCTc		regulator of microtubule dynamics 1																																				SO:0001652	inframe_insertion	51115							g.chr8:87487163_87487164insAGGCACTATTAAATGGTGAATTAAGAA	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.779_780insTTCTTAATTCACCATTTAATAGTGCCT	8.37:g.87487163_87487164insAGGCACTATTAAATGGTGAATTAAGAA	ENSP00000385927:p.Ser260_Lys261insSer*PheThrIle**CysLeu	False	False		Somatic	0				RMDN1_ENST00000523911.1_Intron|RMDN1_ENST00000430676.2_In_Frame_Ins_p.230_231insS*FTI**CL|RMDN1_ENST00000519966.1_Intron	p.260_261insS*FTI**CL	NM_016033.2	NP_057117.2	WXS	Illumina HiSeq	Phase_I					9	938_939	-			NA					A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	In_Frame_Ins	INS	ENST00000406452.3	37	c.779_780insTTCTTAATTCACCATTTAATAGTGCCT	CCDS34918.1																																																																																				0.356	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	0	NM_016033		8:87487163
PKHD1L1	93035	broad.mit.edu	37	8	110509285	110509286	+	In_Frame_Ins	INS	-	-	CCAGAGAATGAACAC			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110509285_110509286insCCAGAGAATGAACAC	ENST00000378402.5	+	64	10569_10570	c.10465_10466insCCAGAGAATGAACAC	c.(10465-10467)att>aCCAGAGAATGAACACtt	p.3489_3489I>TRE*TL		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3489					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGATTATGGAATTTATTTTCAG	0.347										HNSCC(38;0.096)																												ENST00000378402.5		NA																	0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10465-10467)att>aCCAGAGAATGAACACtt		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001652	inframe_insertion	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110509285_110509286insCCAGAGAATGAACAC	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	Exception_encountered	8.37:g.110509285_110509286insCCAGAGAATGAACAC	ENSP00000367655:p.Ile3489delinsThrArgGlu*ThrLeu	True	False	HNSCC(38;0.096)	Somatic	0					p.3489_3489I>TRE*TL	NM_177531.4	NP_803875.2	WXS	Illumina HiSeq	Phase_I	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		64	10569_10570	+			3489					Q567P2|Q9UF27	In_Frame_Ins	INS	ENST00000378402.5	37	c.10465_10466insCCAGAGAATGAACAC	CCDS47911.1																																																																																				0.347	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	0	NM_177531		8:110509285
PTK2	5747	broad.mit.edu	37	8	141774447	141774448	+	Intron	INS	-	-	AAAAGTTATTGATA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:141774447_141774448insAAAAGTTATTGATA	ENST00000522684.1	-	15	1407				PTK2_ENST00000538769.1_Intron|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000519465.1_Frame_Shift_Ins_p.K2fs|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000521059.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCCTGGTATTTCATATAATTAA	0.327																																						ENST00000519465.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48						c.(1-6)atgaaafs		protein tyrosine kinase 2																																				SO:0001627	intron_variant	5747				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity	g.chr8:141774447_141774448insAAAAGTTATTGATA	L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1178-58->TATCAATAACTTTT	8.37:g.141774447_141774448insAAAAGTTATTGATA		True	False		Somatic	0				PTK2_ENST00000521059.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000522684.1_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000535192.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000520151.1_Frame_Shift_Ins_p.K2fs	p.K2fs			WXS	Illumina HiSeq	Phase_I	Q05397	FAK1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.137)		1	174_175	-	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	0					B4E2N6|F5H4S4|Q14291|Q9UD85	Frame_Shift_Ins	INS	ENST00000522684.1	37	c.3_4insTATCAATAACTTTT	CCDS6381.1																																																																																				0.327	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378054.5	0	NM_005607		8:141774447
CDKN2A	1029	broad.mit.edu	37	9	21974768	21974775	+	Frame_Shift_Del	DEL	GCGGCCGT	GCGGCCGT	-	rs560518923		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GCGGCCGT	GCGGCCGT	-	-	GCGGCCGT	GCGGCCGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:21974768_21974775delGCGGCCGT	ENST00000304494.5	-	1	322_329	c.52_59delACGGCCGC	c.(52-60)acggccgcgfs	p.TAA18fs	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.TAA18fs	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	18					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		ACCCCGGGCCGCGGCCGTGGCCAGCCAG	0.745		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1359	Whole gene deletion(1316)|Unknown(23)|Substitution - Missense(10)|Deletion - Frameshift(4)|Insertion - In frame(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.0?(1315)|p.?(23)|p.A20P(3)|p.A19_A20insTA(3)|p.T18P(2)|p.A20T(2)|p.S12fs*6(1)|p.A20E(1)|p.0(1)|p.A20fs*26(1)|p.S12fs*20(1)|p.A17fs*5(1)|p.S7_A19del(1)|p.A20fs*6(1)|p.T18M(1)|p.A20_A21del(1)|p.A20S(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(149)|urinary_tract(90)|bone(73)|soft_tissue(57)|oesophagus(53)|pleura(52)|upper_aerodigestive_tract(47)|pancreas(35)|ovary(34)|kidney(31)|breast(30)|thyroid(14)|biliary_tract(14)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(5)|prostate(4)|thymus(4)|vulva(2)|endometrium(2)|adrenal_gland(1)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CI983050	CDKN2A	I		c.(52-60)acggccgcgfs		cyclin-dependent kinase inhibitor 2A																																				SO:0001589	frameshift_variant	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974768_21974775delGCGGCCGT	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.52_59delACGGCCGC	9.37:g.21974768_21974775delGCGGCCGT	ENSP00000307101:p.Thr18fs	False	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	1				CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.TAA18fs|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.TAA18fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Intron	p.TAA18fs	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	322_329	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	18					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Frame_Shift_Del	DEL	ENST00000304494.5	37	c.52_59delACGGCCGC	CCDS6510.1																																																																																				0.745	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974768
FAM74A7	100996582	broad.mit.edu	37	9	40715911	40715944	+	lincRNA	DEL	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	-	rs199625563|rs370250075|rs62565542|rs62565543|rs535156143|rs374953827|rs112785686|rs557064091|rs62566171|rs62566172	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	-	-	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	GAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA	ENST00000432614.1	-	0	0				FAM74A3_ENST00000604146.1_lincRNA																							GGCTGTCCCGGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCAGAGAAGACGT	0.568																																						ENST00000604146.1		NA																	0				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10												490,3580		46,398,1591						-0.2	0.0			18	1765,6001		192,1381,2310	no	intergenic				238,1779,3901	A1A1,A1R,RR		22.7273,12.0393,19.052				2255,9581						0							g.chr9:40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA																													9.37:g.40715911_40715944delGAGAAGACGTGGAAAGAGCTCAGAGGCTGTCCCA		False	False		Somatic	1						NR_026801.1		WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	0	250_283	+			NA						RNA	DEL	ENST00000432614.1	37																																																																																						0.568	RP11-395E19.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143688.1	0			9:40715911
PRTFDC1	56952	broad.mit.edu	37	10	25197528	25197529	+	Intron	INS	-	-	TTGAGGTTATGAA			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr10:25197528_25197529insTTGAGGTTATGAA	ENST00000320152.6	-	3	368				RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000376376.3_Frame_Shift_Ins_p.-142fs|PRTFDC1_ENST00000376378.1_Intron	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1						nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						gagattcttgcaggggagcaca	0.5																																						ENST00000376376.3		NA																	0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(424-426)ctgfs		phosphoribosyl transferase domain containing 1																																				SO:0001627	intron_variant	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25197528_25197529insTTGAGGTTATGAA	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.339+28583->TTCATAACCTCAA	10.37:g.25197528_25197529insTTGAGGTTATGAA		True	False		Somatic	0				PRTFDC1_ENST00000376378.1_Intron|RN7SKP241_ENST00000464584.2_RNA|PRTFDC1_ENST00000320152.6_Intron	p.-142fs			WXS	Illumina HiSeq	Phase_I	Q9NRG1	PRDC1_HUMAN			4	441_442	-			NA					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Frame_Shift_Ins	INS	ENST00000320152.6	37	c.425_426insTTCATAACCTCAA	CCDS7145.1																																																																																				0.500	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	0	NM_020200		10:25197528
AFF2	2334	broad.mit.edu	37	X	148037698	148037698	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:148037698G>A	ENST00000370460.2	+	11	2602	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	708					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAAAGTCTCGGGAATTCATT	0.488																																						ENST00000370460.2		NA																	0				breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109						c.(2122-2124)cGg>cAg		AF4/FMR2 family, member 2							94.0	97.0	96.0					X																	148037698		2203	4300	6503	SO:0001583	missense	2334				brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	g.chrX:148037698G>A	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2123G>A	X.37:g.148037698G>A	ENSP00000359489:p.Arg708Gln	True	False		Somatic	0				AFF2_ENST00000342251.3_Missense_Mutation_p.R675Q|AFF2_ENST00000286437.5_Missense_Mutation_p.R349Q|AFF2_ENST00000370457.5_Missense_Mutation_p.R675Q	p.R708Q	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	WXS	Illumina HiSeq	Phase_I	P51816	AFF2_HUMAN			11	2602	+	Acute lymphoblastic leukemia(192;6.56e-05)		708					A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	ENST00000370460.2	37	c.2123G>A	CCDS14684.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.537272	0.85812	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.67	5.67	0.87782	.	0.059861	0.64402	D	0.000016	D	0.82669	0.5087	M	0.79926	2.475	0.42293	D	0.992149	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.71414	0.973;0.954;0.954;0.954;0.954;0.973	T	0.83078	-0.0139	10	0.42905	T	0.14	.	18.7499	0.91810	0.0:0.0:1.0:0.0	.	349;673;675;669;698;708	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Q	708;675;675;349	ENSP00000359489:R708Q;ENSP00000359486:R675Q;ENSP00000345459:R675Q;ENSP00000286437:R349Q	ENSP00000286437:R349Q	R	+	2	0	AFF2	147845398	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.672000	0.68102	2.372000	0.80975	0.600000	0.82982	CGG		0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	0	NM_002025		X:148037698
EGFLAM	133584	broad.mit.edu	37	5	38337656	38337656	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:38337656C>T	ENST00000354891.3	+	2	478	c.132C>T	c.(130-132)ggC>ggT	p.G44G	EGFLAM_ENST00000322350.5_Silent_p.G44G	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	44	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCAAGCTGGGCGCATTGAACT	0.512																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5		NA																	0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(130-132)ggC>ggT		EGF-like, fibronectin type III and laminin G domains							93.0	71.0	78.0					5																	38337656		2203	4300	6503	SO:0001819	synonymous_variant	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38337656C>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.132C>T	5.37:g.38337656C>T		True	False		Somatic	0				EGFLAM_ENST00000354891.3_Silent_p.G44G	p.G44G	NM_152403.3	NP_689616.2	WXS	Illumina HiSeq	Phase_I	Q63HQ2	EGFLA_HUMAN			2	478	+	all_lung(31;0.000385)		44			Fibronectin type-III 1.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Silent	SNP	ENST00000354891.3	37	c.132C>T	CCDS56363.1																																																																																				0.512	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	0	NM_152403		5:38337656
COL5A1	1289	broad.mit.edu	37	9	137674564	137674564	+	Missense_Mutation	SNP	C	C	T	rs185912761	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr9:137674564C>T	ENST00000371817.3	+	29	2896	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	828	Triple-helical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CAAGGGTGATCGGGTGAGCAT	0.587													C|||	2	0.000399361	0.0	0.0029	5008	,	,		16972	0.0		0.0	False		,,,				2504	0.0					ENST00000371817.3		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(2482-2484)Cgg>Tgg		collagen, type V, alpha 1		C	TRP/ARG	0,4406		0,0,2203	218.0	212.0	214.0		2482	3.1	1.0	9		214	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	828/1839	137674564	1,13005	2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137674564C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.2482C>T	9.37:g.137674564C>T	ENSP00000360882:p.Arg828Trp	True	False		Somatic	0					p.R828W	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	WXS	Illumina HiSeq	Phase_I	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	29	2896	+		Myeloproliferative disorder(178;0.0341)	828			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.2482C>T	CCDS6982.1	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	C	18.35	3.605486	0.66445	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.97041	-4.22	4.18	3.11	0.35812	.	0.064543	0.64402	U	0.000016	D	0.97300	0.9117	M	0.85859	2.78	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.95502	0.8578	10	0.72032	D	0.01	.	8.9457	0.35758	0.4494:0.5506:0.0:0.0	.	828	P20908	CO5A1_HUMAN	W	828	ENSP00000360882:R828W	ENSP00000360882:R828W	R	+	1	2	COL5A1	136814385	0.811000	0.29063	0.958000	0.39756	0.800000	0.45204	0.973000	0.29422	2.057000	0.61298	0.563000	0.77884	CGG		0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	NM_000093		9:137674564
LAMA1	284217	broad.mit.edu	37	18	6943188	6943188	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:6943188C>T	ENST00000389658.3	-	62	9151	c.9058G>A	c.(9058-9060)Ggc>Agc	p.G3020S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	3020	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCAGGATAGCCACCAACATAA	0.502																																						ENST00000389658.3		NA																	0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(9058-9060)Ggc>Agc		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						201.0	143.0	162.0					18																	6943188		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943188C>T	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.9058G>A	18.37:g.6943188C>T	ENSP00000374309:p.Gly3020Ser	False	False		Somatic	0					p.G3020S	NM_005559.3	NP_005550.2	WXS	Illumina HiSeq	Phase_I	P25391	LAMA1_HUMAN			62	9151	-		Colorectal(10;0.172)	3020			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.9058G>A	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	35	5.551971	0.96501	.	.	ENSG00000101680	ENST00000389658	T	0.70869	-0.52	5.86	5.86	0.93980	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.88336	0.6409	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89477	0.3747	10	0.62326	D	0.03	.	20.1772	0.98182	0.0:1.0:0.0:0.0	.	3020;350	P25391;B3KSD8	LAMA1_HUMAN;.	S	3020	ENSP00000374309:G3020S	ENSP00000374309:G3020S	G	-	1	0	LAMA1	6933188	1.000000	0.71417	0.972000	0.41901	0.992000	0.81027	7.399000	0.79935	2.778000	0.95560	0.655000	0.94253	GGC		0.502	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	0	NM_005559		18:6943188
CTC-260E6.6	0	broad.mit.edu	37	19	20369667	20369667	+	RNA	SNP	G	G	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:20369667G>T	ENST00000593655.1	-	0	199																											CCACTCTGCTGATTTTGAAAC	0.403																																						ENST00000593655.1		NA																	0					NA																																														0							g.chr19:20369667G>T																													19.37:g.20369667G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	199	-			NA						RNA	SNP	ENST00000593655.1	37																																																																																						0.403	CTC-260E6.6-006	KNOWN	basic	antisense	antisense	OTTHUMT00000462901.1	0			19:20369667
OBSCN	84033	broad.mit.edu	37	1	228479741	228479741	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:228479741C>T	ENST00000422127.1	+	39	10526	c.10482C>T	c.(10480-10482)taC>taT	p.Y3494Y	OBSCN_ENST00000570156.2_Silent_p.Y3923Y|OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y|OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3494	Ig-like 35.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACATCCTGAGGC	0.632																																						ENST00000570156.2		NA																	0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(11767-11769)taC>taT		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							101.0	105.0	104.0					1																	228479741		2074	4188	6262	SO:0001819	synonymous_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228479741C>T	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.10482C>T	1.37:g.228479741C>T		False	False		Somatic	0				OBSCN_ENST00000366707.4_Silent_p.Y613Y|OBSCN_ENST00000284548.11_Silent_p.Y3494Y|OBSCN_ENST00000422127.1_Silent_p.Y3494Y|OBSCN_ENST00000366709.4_Silent_p.Y613Y|OBSCN_ENST00000359599.6_Silent_p.Y2341Y	p.Y3923Y	NM_001271223.2	NP_001258152.2	WXS	Illumina HiSeq	Phase_I	Q5VST9	OBSCN_HUMAN			44	11843	+		Prostate(94;0.0405)	2961			Ig-like 40.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	37	c.11769C>T	CCDS58065.1																																																																																				0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_052843		1:228479741
MT-ND6	4541	broad.mit.edu	37	M	14205	14205	+	Missense_Mutation	SNP	C	C	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrM:14205C>A	ENST00000361681.2	-	1	468	c.469G>T	c.(469-471)Ggt>Tgt	p.G157C	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	157					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CAATGTTCAACCAGTAACCAC	0.423																																						ENST00000361681.2		NA																	0				breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						c.(469-471)Ggt>Tgt		mitochondrially encoded NADH dehydrogenase 6																																				SO:0001583	missense	4541							g.chrM:14205C>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.469G>T	M.37:g.14205C>A	ENSP00000354665:p.Gly157Cys	False	False		Somatic	0					p.G157C			WXS	Illumina HiSeq	Phase_I					1	468	-			NA					Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	37	c.469G>T																																																																																					0.423	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	YP_003024037		MT:14205
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7578190
PLCD3	113026	broad.mit.edu	37	17	43192471	43192471	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:43192471G>A	ENST00000322765.5	-	11	1812	c.1699C>T	c.(1699-1701)Cgg>Tgg	p.R567W	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	568	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						CCTGCCTCCCGAATGAGTTTC	0.657																																						ENST00000322765.5		NA																	0				breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17						c.(1699-1701)Cgg>Tgg		phospholipase C, delta 3	Phosphatidylserine(DB00144)						25.0	28.0	27.0					17																	43192471		1975	4154	6129	SO:0001583	missense	113026				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr17:43192471G>A	AC002117	CCDS74077.1	17q21	2012-04-20			ENSG00000161714	ENSG00000161714	3.1.4.11		9061	protein-coding gene	gene with protein product		608795				10702670, 9056492	Standard	NM_133373		Approved		uc002iib.3	Q8N3E9	OTTHUMG00000168029	ENST00000322765.5:c.1699C>T	17.37:g.43192471G>A	ENSP00000313731:p.Arg567Trp	True	False		Somatic	0				PLCD3_ENST00000540511.1_5'UTR	p.R567W	NM_133373.3	NP_588614.1	WXS	Illumina HiSeq	Phase_I	Q8N3E9	PLCD3_HUMAN			11	1812	-			568			PI-PLC Y-box.		Q8TEC1|Q8TF37|Q96FL6	Missense_Mutation	SNP	ENST00000322765.5	37	c.1699C>T		.	.	.	.	.	.	.	.	.	.	G	10.89	1.479804	0.26511	.	.	ENSG00000161714	ENST00000322765	T	0.68765	-0.35	3.78	-0.997	0.10215	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.152498	0.44483	D	0.000455	T	0.49932	0.1586	.	.	.	0.33151	D	0.545763	B	0.22346	0.068	B	0.12837	0.008	T	0.49818	-0.8899	9	0.87932	D	0	.	6.6438	0.22925	0.1084:0.0:0.2189:0.6726	.	568	Q8N3E9	PLCD3_HUMAN	W	567	ENSP00000313731:R567W	ENSP00000313731:R567W	R	-	1	2	PLCD3	40547997	1.000000	0.71417	0.964000	0.40570	0.197000	0.23852	1.024000	0.30077	0.048000	0.15891	0.462000	0.41574	CGG		0.657	PLCD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_133373		17:43192471
B3GALT2	8707	broad.mit.edu	37	1	193150555	193150555	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:193150555A>C	ENST00000367434.4	-	2	893	c.138T>G	c.(136-138)caT>caG	p.H46Q	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	46					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						GCAGCCAGTCATGATGATTGA	0.428																																						ENST00000367434.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						c.(136-138)caT>caG		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2							91.0	90.0	91.0					1																	193150555		2203	4300	6503	SO:0001583	missense	8707				protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr1:193150555A>C	Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.138T>G	1.37:g.193150555A>C	ENSP00000356404:p.His46Gln	False	False		Somatic	0				CDC73_ENST00000367435.3_Intron	p.H46Q	NM_003783.3	NP_003774.1	WXS	Illumina HiSeq	Phase_I	O43825	B3GT2_HUMAN			2	893	-			46					B2RAB1|Q9BZQ9	Missense_Mutation	SNP	ENST00000367434.4	37	c.138T>G	CCDS1383.1	.	.	.	.	.	.	.	.	.	.	A	0.052	-1.246213	0.01481	.	.	ENSG00000162630	ENST00000367434	T	0.34859	1.34	5.25	-1.75	0.08031	.	0.253868	0.42294	N	0.000722	T	0.12305	0.0299	N	0.03608	-0.345	0.39789	D	0.972407	B	0.06786	0.001	B	0.04013	0.001	T	0.09662	-1.0664	10	0.24483	T	0.36	.	6.4842	0.22079	0.4727:0.0:0.4067:0.1206	.	46	O43825	B3GT2_HUMAN	Q	46	ENSP00000356404:H46Q	ENSP00000356404:H46Q	H	-	3	2	B3GALT2	191417178	0.028000	0.19301	0.996000	0.52242	0.117000	0.20001	-0.633000	0.05483	-0.242000	0.09667	0.533000	0.62120	CAT		0.428	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086759.1	0	NM_003783		1:193150555
NUP85	79902	broad.mit.edu	37	17	73229049	73229049	+	Silent	SNP	G	G	A	rs150650595		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:73229049G>A	ENST00000245544.4	+	15	1571	c.1500G>A	c.(1498-1500)acG>acA	p.T500T	NUP85_ENST00000541827.1_Silent_p.T454T|NUP85_ENST00000540768.1_Silent_p.T103T|NUP85_ENST00000579324.1_Silent_p.T388T|NUP85_ENST00000447371.2_Silent_p.T332T|NUP85_ENST00000579298.1_Silent_p.T455T	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	500					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|lamellipodium assembly (GO:0030032)|macrophage chemotaxis (GO:0048246)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			CCTTTGCCACGCTCGTGTCAG	0.602																																						ENST00000447371.2		NA																	0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16						c.(994-996)acG>acA		nucleoporin 85kDa							102.0	98.0	99.0					17																	73229049		2203	4300	6503	SO:0001819	synonymous_variant	79902				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding	g.chr17:73229049G>A	AF514995	CCDS32730.1	17q25	2006-11-29	2005-11-03	2005-11-03		ENSG00000125450			8734	protein-coding gene	gene with protein product		170285				8124707	Standard	XM_005257690		Approved	NUP75, FLJ12549	uc002jng.1	Q9BW27		ENST00000245544.4:c.1500G>A	17.37:g.73229049G>A		False	False		Somatic	0				NUP85_ENST00000579298.1_Silent_p.T455T|NUP85_ENST00000540768.1_Silent_p.T103T|NUP85_ENST00000579324.1_Silent_p.T388T|NUP85_ENST00000245544.4_Silent_p.T500T|NUP85_ENST00000541827.1_Silent_p.T454T	p.T332T			WXS	Illumina HiSeq	Phase_I	Q9BW27	NUP85_HUMAN	all cancers(21;3.45e-06)		14	1420	+	all_lung(278;0.14)|Lung NSC(278;0.168)		500					B4DMQ3|B4DPW1|Q8NDI4|Q9H9U1	Silent	SNP	ENST00000245544.4	37	c.996G>A	CCDS32730.1																																																																																				0.602	NUP85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446619.1	0	NM_024844		17:73229049
TMEM67	91147	broad.mit.edu	37	8	94767364	94767364	+	Splice_Site	SNP	A	A	G			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:94767364A>G	ENST00000453321.3	+	1	280	c.222A>G	c.(220-222)cgA>cgG	p.R74R	TMEM67_ENST00000409623.3_5'UTR	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	74					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			AAGATGCCCGAGGTAAGACGG	0.552																																						ENST00000453321.3		NA																	0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(220-222)cgA>cgG		transmembrane protein 67							82.0	81.0	81.0					8																	94767364		2203	4300	6503	SO:0001630	splice_region_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94767364A>G	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.223+1A>G	8.37:g.94767364A>G		False	False		Somatic	0				TMEM67_ENST00000409623.3_5'UTR	p.R74R	NM_153704.5	NP_714915.3	WXS	Illumina HiSeq	Phase_I	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		1	280	+	Breast(36;4.14e-07)		74					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Splice_Site	SNP	ENST00000453321.3	37	c.222A>G	CCDS6258.2	.	.	.	.	.	.	.	.	.	.	A	11.94	1.787392	0.31593	.	.	ENSG00000164953	ENST00000521517	D	0.92699	-3.09	5.35	0.149	0.14863	.	0.907118	0.09652	N	0.773578	D	0.91129	0.7207	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.84821	0.0796	7	0.56958	D	0.05	1.5014	4.9979	0.14249	0.5177:0.1558:0.3265:0.0	.	.	.	.	G	72	ENSP00000430740:R72G	ENSP00000427947:R73G	R	+	1	2	TMEM67	94836540	0.805000	0.28982	0.152000	0.22495	0.824000	0.46624	0.741000	0.26202	-0.097000	0.12307	0.477000	0.44152	AGG		0.552	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	0	NM_153704	Silent	8:94767364
TRPM2	7226	broad.mit.edu	37	21	45838383	45838383	+	Nonsense_Mutation	SNP	C	C	T	rs143493112		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:45838383C>T	ENST00000397928.1	+	22	3851	c.3406C>T	c.(3406-3408)Cga>Tga	p.R1136*	AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*|AP001065.2_ENST00000456880.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1136					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCTCCAGAACCGACAGTTCCA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000397928.1		NA																	0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(3406-3408)Cga>Tga		transient receptor potential cation channel, subfamily M, member 2		C	stop/ARG	3,4403	6.2+/-15.9	0,3,2200	135.0	137.0	137.0		3406	4.8	0.3	21	dbSNP_134	137	12,8588	9.1+/-34.3	0,12,4288	yes	stop-gained	TRPM2	NM_003307.3		0,15,6488	TT,TC,CC		0.1395,0.0681,0.1153		1136/1504	45838383	15,12991	2203	4300	6503	SO:0001587	stop_gained	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45838383C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3406C>T	21.37:g.45838383C>T	ENSP00000381023:p.Arg1136*	False	False		Somatic	0				TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1136*|TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1116*|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1136*	p.R1136*	NM_003307.3	NP_003298	WXS	Illumina HiSeq	Phase_I	O94759	TRPM2_HUMAN			22	3851	+			1136					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Nonsense_Mutation	SNP	ENST00000397928.1	37	c.3406C>T	CCDS13710.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	38	7.041531	0.98021	6.81E-4	0.001395	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	.	.	.	4.81	4.81	0.61882	.	0.605119	0.16448	N	0.213991	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-12.6798	11.4159	0.49951	0.0:0.9154:0.0:0.0846	.	.	.	.	X	1136;1136;1116;1136	.	ENSP00000300481:R1116X	R	+	1	2	TRPM2	44662811	0.834000	0.29399	0.303000	0.25071	0.096000	0.18686	3.140000	0.50585	2.395000	0.81488	0.514000	0.50259	CGA		0.607	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	0	NM_003307		21:45838383
NPAS4	266743	broad.mit.edu	37	11	66190209	66190209	+	Missense_Mutation	SNP	A	A	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr11:66190209A>T	ENST00000311034.2	+	4	671	c.495A>T	c.(493-495)aaA>aaT	p.K165N		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	165					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CAGGCAACAAACTCGTGCTTA	0.552																																						ENST00000311034.2		NA																	0				breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						c.(493-495)aaA>aaT		neuronal PAS domain protein 4							118.0	113.0	114.0					11																	66190209		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66190209A>T	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.495A>T	11.37:g.66190209A>T	ENSP00000311196:p.Lys165Asn	True	False		Somatic	0					p.K165N	NM_178864.3	NP_849195.2	WXS	Illumina HiSeq	Phase_I	Q8IUM7	NPAS4_HUMAN			4	671	+			165					B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.495A>T	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.254963	0.80135	.	.	ENSG00000174576	ENST00000311034	T	0.55588	0.51	5.74	1.2	0.21068	.	0.097095	0.45606	D	0.000357	T	0.70245	0.3202	M	0.87038	2.855	0.58432	D	0.999999	D	0.71674	0.998	D	0.72982	0.979	T	0.69461	-0.5139	10	0.87932	D	0	-10.5374	7.7832	0.29077	0.4889:0.0:0.5111:0.0	.	165	Q8IUM7	NPAS4_HUMAN	N	165	ENSP00000311196:K165N	ENSP00000311196:K165N	K	+	3	2	NPAS4	65946785	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.957000	0.40392	0.145000	0.18977	0.533000	0.62120	AAA		0.552	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	0	NM_178864		11:66190209
NKD1	85407	broad.mit.edu	37	16	50666302	50666302	+	Missense_Mutation	SNP	C	C	T	rs554470098		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr16:50666302C>T	ENST00000268459.3	+	9	1030	c.806C>T	c.(805-807)aCg>aTg	p.T269M		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	269					eye photoreceptor cell differentiation (GO:0001754)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of convergent extension involved in axis elongation (GO:1901233)|positive regulation of non-canonical Wnt signaling pathway via JNK cascade (GO:1901231)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of cell motility involved in somitogenic axis elongation (GO:0090249)|somatic muscle development (GO:0007525)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		GAAAACTACACGTCCCAATTT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		17233	0.0		0.0	False		,,,				2504	0.001					ENST00000268459.3		NA																	0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23						c.(805-807)aCg>aTg		naked cuticle homolog 1 (Drosophila)							97.0	72.0	80.0					16																	50666302		2198	4300	6498	SO:0001583	missense	85407				Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding	g.chr16:50666302C>T	AF358135	CCDS10743.1	16q12.1	2013-01-10			ENSG00000140807	ENSG00000140807		"""EF-hand domain containing"""	17045	protein-coding gene	gene with protein product		607851				11356022	Standard	NM_033119		Approved		uc002egg.2	Q969G9	OTTHUMG00000133169	ENST00000268459.3:c.806C>T	16.37:g.50666302C>T	ENSP00000268459:p.Thr269Met	False	False		Somatic	0					p.T269M	NM_033119.4	NP_149110.1	WXS	Illumina HiSeq	Phase_I	Q969G9	NKD1_HUMAN		GBM - Glioblastoma multiforme(240;0.243)	9	1030	+		all_cancers(37;0.229)	269					B2RC39|Q8WZ08	Missense_Mutation	SNP	ENST00000268459.3	37	c.806C>T	CCDS10743.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791638	0.90367	.	.	ENSG00000140807	ENST00000268459	T	0.77620	-1.11	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.89273	0.6668	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90850	0.4730	10	0.87932	D	0	-12.9426	18.6084	0.91275	0.0:1.0:0.0:0.0	.	269	Q969G9	NKD1_HUMAN	M	269	ENSP00000268459:T269M	ENSP00000268459:T269M	T	+	2	0	NKD1	49223803	1.000000	0.71417	0.987000	0.45799	0.978000	0.69477	7.578000	0.82498	2.403000	0.81681	0.563000	0.77884	ACG		0.597	NKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256873.1	0			16:50666302
RSPO1	284654	broad.mit.edu	37	1	38079563	38079563	+	Splice_Site	SNP	C	C	T	rs202233461		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:38079563C>T	ENST00000401069.1	-	6	1150	c.438G>A	c.(436-438)gcG>gcA	p.A146A	RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000356545.2_Splice_Site_p.A146A	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	146					canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTTCACATTGCGCTGGCAGGA	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20078	0.0		0.0	False		,,,				2504	0.0				GBM(122;680 2230 27822 42821)	ENST00000356545.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(436-438)gcG>gcA		R-spondin 1		C	,,,	1,3913		0,1,1956	46.0	49.0	48.0		438,438,357,	-1.3	1.0	1		48	0,8282		0,0,4141	yes	coding-synonymous-near-splice,coding-synonymous-near-splice,coding-synonymous-near-splice,intron	RSPO1	NM_001038633.3,NM_001242908.1,NM_001242909.1,NM_001242910.1	,,,	0,1,6097	TT,TC,CC		0.0,0.0255,0.0082	,,,	146/264,146/264,119/237,	38079563	1,12195	1957	4141	6098	SO:0001630	splice_region_variant	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079563C>T	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.437-1G>A	1.37:g.38079563C>T		False	False		Somatic	0				RSPO1_ENST00000373059.1_Splice_Site_p.A119A|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Splice_Site_p.A146A|RSPO1_ENST00000401069.1_Splice_Site_p.A146A|RSPO1_ENST00000401071.2_Intron	p.A146A	NM_001038633.3	NP_001033722.1	WXS	Illumina HiSeq	Phase_I	Q2MKA7	RSPO1_HUMAN			7	1225	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	146					A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Splice_Site	SNP	ENST00000401069.1	37	c.438G>A	CCDS41304.1																																																																																				0.617	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	0	NM_173640	Silent	1:38079563
ZNF662	389114	broad.mit.edu	37	3	42950359	42950359	+	Missense_Mutation	SNP	C	C	T	rs201335459	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:42950359C>T	ENST00000541208.1	+	3	478	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W|ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	37	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTCGGTTCCTCGGGGAGCTCT	0.542													C|||	2	0.000399361	0.0008	0.0	5008	,	,		15738	0.001		0.0	False		,,,				2504	0.0					ENST00000541208.1		NA																	0				breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15						c.(109-111)Cgg>Tgg		zinc finger protein 662		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	70.0	75.0	73.0		289,109	0.5	0.0	3		73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF662	NM_001134656.1,NM_207404.3	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	97/453,37/427	42950359	1,13005	2203	4300	6503	SO:0001583	missense	389114				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42950359C>T	AK127779	CCDS2708.1, CCDS46807.1	3p22.1	2013-01-08			ENSG00000182983	ENSG00000182983		"""Zinc fingers, C2H2-type"", ""-"""	31930	protein-coding gene	gene with protein product							Standard	NM_207404		Approved	FLJ45880	uc003cmk.2	Q6ZS27	OTTHUMG00000133041	ENST00000541208.1:c.109C>T	3.37:g.42950359C>T	ENSP00000446208:p.Arg37Trp	True	False		Somatic	0				ZNF662_ENST00000430067.2_3'UTR|KRBOX1_ENST00000426937.1_5'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.R37W|ZNF662_ENST00000328199.6_Missense_Mutation_p.R97W|ZNF662_ENST00000422021.1_Missense_Mutation_p.R37W	p.R37W			WXS	Illumina HiSeq	Phase_I	Q6ZS27	ZN662_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.217)	3	478	+			37			KRAB.		A1A4T9|F8W7S8|Q6ZNF8|Q6ZQW8	Missense_Mutation	SNP	ENST00000541208.1	37	c.109C>T	CCDS2708.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	C	1.020	-0.685146	0.03328	0.0	1.16E-4	ENSG00000182983	ENST00000440367;ENST00000328199;ENST00000541208;ENST00000422021	T;T;T	0.08546	3.08;3.12;3.08	3.08	0.535	0.17133	Krueppel-associated box (1);	.	.	.	.	T	0.12817	0.0311	M	0.82823	2.61	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.0	T	0.20907	-1.0261	9	0.37606	T	0.19	.	9.101	0.36669	0.0:0.7309:0.0:0.2691	.	97;37	F8W7S8;Q6ZS27	.;ZN662_HUMAN	W	37;97;37;37	ENSP00000405047:R37W;ENSP00000329264:R97W;ENSP00000446208:R37W	ENSP00000329264:R97W	R	+	1	2	ZNF662	42925363	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.072000	0.11486	-0.317000	0.08677	-1.134000	0.01955	CGG		0.542	ZNF662-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256646.4	0	NM_207404		3:42950359
OSBPL6	114880	broad.mit.edu	37	2	179193055	179193055	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:179193055G>A	ENST00000190611.4	+	5	644	c.268G>A	c.(268-270)Gag>Aag	p.E90K	OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	90	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AGACAAACATGAGGGCTTTAT	0.378																																						ENST00000190611.4		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(268-270)Gag>Aag		oxysterol binding protein-like 6							103.0	106.0	105.0					2																	179193055		2203	4300	6503	SO:0001583	missense	114880				lipid transport		lipid binding	g.chr2:179193055G>A	AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.268G>A	2.37:g.179193055G>A	ENSP00000190611:p.Glu90Lys	False	False		Somatic	0				OSBPL6_ENST00000357080.4_Missense_Mutation_p.E90K|OSBPL6_ENST00000477097.1_3'UTR|OSBPL6_ENST00000315022.2_Missense_Mutation_p.E69K|OSBPL6_ENST00000409045.3_Missense_Mutation_p.E90K|OSBPL6_ENST00000409631.1_Missense_Mutation_p.E90K|OSBPL6_ENST00000392505.2_Missense_Mutation_p.E90K|OSBPL6_ENST00000359685.3_Missense_Mutation_p.E90K	p.E90K	NM_032523.3	NP_115912.1	WXS	Illumina HiSeq	Phase_I	Q9BZF3	OSBL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)		5	644	+			90			PH.		B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Missense_Mutation	SNP	ENST00000190611.4	37	c.268G>A	CCDS2277.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.939758	0.92526	.	.	ENSG00000079156	ENST00000392505;ENST00000359685;ENST00000357080;ENST00000409045;ENST00000190611;ENST00000409631;ENST00000315022	T;T;T;T;T;T;T	0.14893	2.55;2.51;2.47;2.53;2.54;2.51;2.56	5.49	5.49	0.81192	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	T	0.38427	0.1040	L	0.60957	1.885	0.80722	D	1	B;D;D;D;D;D	0.76494	0.421;0.999;0.996;0.999;0.997;0.998	B;D;D;D;D;D	0.83275	0.399;0.993;0.981;0.996;0.98;0.991	T	0.03695	-1.1012	10	0.15952	T	0.53	-18.931	19.3787	0.94523	0.0:0.0:1.0:0.0	.	90;69;90;90;90;90	Q9BZF3-4;Q9BZF3-3;Q9BZF3-2;Q9BZF3-5;Q9BZF3;Q86V84	.;.;.;.;OSBL6_HUMAN;.	K	90;90;90;90;90;90;69	ENSP00000376293:E90K;ENSP00000352713:E90K;ENSP00000349591:E90K;ENSP00000387248:E90K;ENSP00000190611:E90K;ENSP00000386885:E90K;ENSP00000318723:E69K	ENSP00000190611:E90K	E	+	1	0	OSBPL6	178901301	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.577000	0.86979	0.655000	0.94253	GAG		0.378	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000334393.2	0	NM_032523		2:179193055
HLX	3142	broad.mit.edu	37	1	221057767	221057767	+	Silent	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:221057767G>A	ENST00000366903.6	+	4	2689	c.1188G>A	c.(1186-1188)ggG>ggA	p.G396G	HLX_ENST00000549319.1_Silent_p.G182G	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	396	Ser-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		GGACTGAGGGGAGTGAGCGTT	0.652																																						ENST00000366903.6		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1186-1188)ggG>ggA		H2.0-like homeobox							66.0	57.0	60.0					1																	221057767		2203	4300	6503	SO:0001819	synonymous_variant	3142				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:221057767G>A	BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.1188G>A	1.37:g.221057767G>A		True	False		Somatic	0				HLX_ENST00000549319.1_Silent_p.G182G	p.G396G	NM_021958.3	NP_068777.1	WXS	Illumina HiSeq	Phase_I	Q14774	HLX_HUMAN		GBM - Glioblastoma multiforme(131;0.00914)	4	2689	+			396			Ser-rich.		B2R8A8|Q15988|Q59HE7|Q9NZ75	Silent	SNP	ENST00000366903.6	37	c.1188G>A	CCDS1527.1																																																																																				0.652	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090902.3	0	NM_021958		1:221057767
FLT4	2324	broad.mit.edu	37	5	180039610	180039610	+	Splice_Site	SNP	G	G	A	rs202140363		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:180039610G>A	ENST00000261937.6	-	26	3511	c.3433C>T	c.(3433-3435)Cgc>Tgc	p.R1145C	FLT4_ENST00000393347.3_Splice_Site_p.R1145C|FLT4_ENST00000502649.1_Splice_Site_p.R1145C	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGATGCGGCGTCTGCAGGAT	0.667																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3433-3435)Cgc>Tgc		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						64.0	64.0	64.0					5																	180039610		2203	4300	6503	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180039610G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3432-1C>T	5.37:g.180039610G>A		False	False		Somatic	0				FLT4_ENST00000502649.1_Splice_Site_p.R1145C|FLT4_ENST00000393347.3_Splice_Site_p.R1145C	p.R1145C	NM_182925.4	NP_891555.2	WXS	Illumina HiSeq	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	26	3511	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	1145			Protein kinase.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37	c.3433C>T	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	g	14.52	2.561024	0.45590	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649	D;D;D	0.82984	-1.67;-1.67;-1.67	3.57	3.57	0.40892	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.81683	0.4874	L	0.35487	1.065	0.52501	D	0.999952	D;D	0.61697	0.99;0.99	P;P	0.61658	0.892;0.892	T	0.81304	-0.0993	9	0.87932	D	0	.	4.5402	0.12054	0.3012:0.0:0.6988:0.0	.	1145;1145	E9PD35;P35916	.;VGFR3_HUMAN	C	1145	ENSP00000261937:R1145C;ENSP00000377016:R1145C;ENSP00000426057:R1145C	ENSP00000261937:R1145C	R	-	1	0	FLT4	179972216	1.000000	0.71417	0.961000	0.40146	0.110000	0.19582	5.246000	0.65411	2.011000	0.59026	0.457000	0.33378	CGC		0.667	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0		Missense_Mutation	5:180039610
GRIN2D	2906	broad.mit.edu	37	19	48918276	48918276	+	Missense_Mutation	SNP	G	G	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:48918276G>C	ENST00000263269.3	+	6	1656	c.1568G>C	c.(1567-1569)gGc>gCc	p.G523A		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTCTGGAACGGCATGATCGGG	0.637																																						ENST00000263269.3		NA																	0				autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37						c.(1567-1569)gGc>gCc		glutamate receptor, ionotropic, N-methyl D-aspartate 2D	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)						40.0	40.0	40.0					19																	48918276		2203	4300	6503	SO:0001583	missense	2906					cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding	g.chr19:48918276G>C	U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.1568G>C	19.37:g.48918276G>C	ENSP00000263269:p.Gly523Ala	False	False		Somatic	0					p.G523A	NM_000836.2	NP_000827.2	WXS	Illumina HiSeq	Phase_I	O15399	NMDE4_HUMAN		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	6	1656	+		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	523						Missense_Mutation	SNP	ENST00000263269.3	37	c.1568G>C	CCDS12719.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950995	0.92660	.	.	ENSG00000105464	ENST00000263269	T	0.56444	0.46	4.88	4.88	0.63580	Extracellular solute-binding protein, family 3 (1);Glutamate receptor, L-glutamate/glycine-binding (1);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.79341	0.4429	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85032	0.0918	10	0.87932	D	0	.	17.1833	0.86860	0.0:0.0:1.0:0.0	.	523	O15399	NMDE4_HUMAN	A	523	ENSP00000263269:G523A	ENSP00000263269:G523A	G	+	2	0	GRIN2D	53610088	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.546000	0.98097	2.445000	0.82738	0.655000	0.94253	GGC		0.637	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466121.1	0			19:48918276
MSR1	4481	broad.mit.edu	37	8	15967630	15967630	+	Silent	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:15967630T>C	ENST00000262101.5	-	10	1441	c.1320A>G	c.(1318-1320)tcA>tcG	p.S440S	MSR1_ENST00000350896.3_Silent_p.S377S|MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000445506.2_Silent_p.S458S			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCAGAATGTGAACAGGCTC	0.378																																						ENST00000350896.3		NA																	0				haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1129-1131)tcA>tcG		macrophage scavenger receptor 1							93.0	94.0	94.0					8																	15967630		2203	4300	6503	SO:0001819	synonymous_variant	0				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity	g.chr8:15967630T>C	D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1320A>G	8.37:g.15967630T>C		False	False		Somatic	0				MSR1_ENST00000355282.2_Silent_p.S377S|MSR1_ENST00000262101.5_Silent_p.S440S|MSR1_ENST00000445506.2_Silent_p.S458S	p.S377S	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	WXS	Illumina HiSeq	Phase_I	P21757	MSRE_HUMAN		Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)	9	1328	-			440			SRCR.		D3DSP3|O60505|P21759|Q45F10	Silent	SNP	ENST00000262101.5	37	c.1131A>G	CCDS5995.1																																																																																				0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2	0			8:15967630
ZFPM2	23414	broad.mit.edu	37	8	106815014	106815014	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:106815014C>T	ENST00000407775.2	+	8	2954	c.2704C>T	c.(2704-2706)Cga>Tga	p.R902*	RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	902					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.R902*(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGAAAGCGAACGAAACAGCCC	0.458																																						ENST00000407775.2		NA																	1	Substitution - Nonsense(1)	p.R902*(1)	large_intestine(1)	NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(2704-2706)Cga>Tga		zinc finger protein, FOG family member 2							46.0	45.0	45.0					8																	106815014		1930	4141	6071	SO:0001587	stop_gained	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106815014C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2704C>T	8.37:g.106815014C>T	ENSP00000384179:p.Arg902*	True	False		Somatic	0				RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.R633*|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.R770*|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.R770*|RP11-152P17.2_ENST00000518932.1_RNA	p.R902*	NM_012082.3	NP_036214.2	WXS	Illumina HiSeq	Phase_I	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	2954	+			902					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	ENST00000407775.2	37	c.2704C>T	CCDS47908.1	.	.	.	.	.	.	.	.	.	.	C	37	5.984063	0.97173	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.57	3.73	0.42828	.	0.176149	0.51477	D	0.000099	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	.	14.4956	0.67685	0.5405:0.4595:0.0:0.0	.	.	.	.	X	902;770;770;633	.	ENSP00000367733:R633X	R	+	1	2	ZFPM2	106884190	1.000000	0.71417	0.973000	0.42090	0.869000	0.49853	1.600000	0.36762	0.663000	0.31027	-0.284000	0.09977	CGA		0.458	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	0			8:106815014
TRHR	7201	broad.mit.edu	37	8	110131289	110131289	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:110131289C>T	ENST00000518632.1	+	3	1153	c.802C>T	c.(802-804)Ctg>Ttg	p.L268L	TRHR_ENST00000311762.2_Silent_p.L268L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	268					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CACCAAGATGCTGGCAGTGGT	0.418																																						ENST00000518632.1		NA																	0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37						c.(802-804)Ctg>Ttg		thyrotropin-releasing hormone receptor							240.0	235.0	237.0					8																	110131289		2203	4300	6503	SO:0001819	synonymous_variant	7201					integral to plasma membrane	thyrotropin-releasing hormone receptor activity	g.chr8:110131289C>T		CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.802C>T	8.37:g.110131289C>T		False	False		Somatic	0				TRHR_ENST00000311762.2_Silent_p.L268L	p.L268L			WXS	Illumina HiSeq	Phase_I	P34981	TRFR_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)		3	1153	+			268					Q2M339	Silent	SNP	ENST00000518632.1	37	c.802C>T	CCDS6311.1																																																																																				0.418	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380892.1	0			8:110131289
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74715181	74715181	+	Missense_Mutation	SNP	G	G	A	rs567503494		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:74715181G>A	ENST00000370899.3	+	5	528	c.491G>A	c.(490-492)cGc>cAc	p.R164H	TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63H|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.R164H|FPGT-TNNI3K_ENST00000533006.1_3'UTR|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164H|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177H	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		TTAAATTACCGCACTGAAAAT	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18839	0.0		0.0	False		,,,				2504	0.0					ENST00000370895.1		NA																	0					NA						c.(490-492)cGc>cAc									153.0	156.0	155.0					1																	74715181		2202	4300	6502	SO:0001583	missense	0					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74715181G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.491G>A	1.37:g.74715181G>A	ENSP00000359936:p.Arg164His	False	False		Somatic	0				FPGT-TNNI3K_ENST00000533006.1_3'UTR|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.R177H|TNNI3K_ENST00000370891.2_Missense_Mutation_p.R164H|TNNI3K_ENST00000326637.3_Missense_Mutation_p.R63H|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.R164H	p.R164H			WXS	Illumina HiSeq	Phase_I	Q59H18	TNI3K_HUMAN			5	526	+			63						Missense_Mutation	SNP	ENST00000370899.3	37	c.491G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.392920	0.83011	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637	T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38	5.83	3.95	0.45737	Ankyrin repeat-containing domain (3);	0.054702	0.64402	N	0.000001	T	0.16642	0.0400	L	0.34521	1.04	0.50039	D	0.999849	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.69824	0.925;0.966;0.909;0.909	T	0.01604	-1.1314	10	0.51188	T	0.08	.	10.8712	0.46885	0.0677:0.0:0.8018:0.1305	.	63;164;164;164	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	H	164;164;164;164;63	ENSP00000359936:R164H;ENSP00000359932:R164H;ENSP00000450895:R164H;ENSP00000359928:R164H;ENSP00000322251:R63H	ENSP00000322251:R63H	R	+	2	0	RP11-653A5.2;AC093158.1	74487769	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.409000	0.59768	0.798000	0.33994	-0.126000	0.14955	CGC		0.333	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3	0			1:74715181
SAMD7	344658	broad.mit.edu	37	3	169644398	169644398	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:169644398C>T	ENST00000428432.2	+	6	737	c.348C>T	c.(346-348)ccC>ccT	p.P116P	SAMD7_ENST00000335556.3_Silent_p.P116P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	116										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AAATTAATCCCAAGGGACTAG	0.478																																						ENST00000428432.2		NA																	0				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(346-348)ccC>ccT		sterile alpha motif domain containing 7							45.0	48.0	47.0					3																	169644398		2203	4300	6503	SO:0001819	synonymous_variant	344658							g.chr3:169644398C>T	BX537903	CCDS3209.1	3q26.31	2013-01-10			ENSG00000187033	ENSG00000187033		"""Sterile alpha motif (SAM) domain containing"""	25394	protein-coding gene	gene with protein product							Standard	NM_182610		Approved	DKFZp686E1583	uc003fgd.3	Q7Z3H4	OTTHUMG00000158730	ENST00000428432.2:c.348C>T	3.37:g.169644398C>T		True	False		Somatic	0				SAMD7_ENST00000335556.3_Silent_p.P116P	p.P116P	NM_182610.2	NP_872416.1	WXS	Illumina HiSeq	Phase_I	Q7Z3H4	SAMD7_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)		6	737	+	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		116						Silent	SNP	ENST00000428432.2	37	c.348C>T	CCDS3209.1																																																																																				0.478	SAMD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351959.1	0	NM_182610		3:169644398
KLHL38	340359	broad.mit.edu	37	8	124664206	124664206	+	Missense_Mutation	SNP	G	G	A	rs375114991		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr8:124664206G>A	ENST00000325995.7	-	1	984	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	321										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TTGTACAGCCGTGTCGGGAGT	0.592													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20169	0.0		0.0	False		,,,				2504	0.0					ENST00000325995.7		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						c.(961-963)Cgg>Tgg		kelch-like family member 38		G	TRP/ARG	1,4035		0,1,2017	70.0	73.0	72.0		961	4.3	0.7	8		72	1,8333		0,1,4166	no	missense	KLHL38	NM_001081675.2	101	0,2,6183	AA,AG,GG		0.012,0.0248,0.0162	probably-damaging	321/582	124664206	2,12368	2018	4167	6185	SO:0001583	missense	340359							g.chr8:124664206G>A		CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.961C>T	8.37:g.124664206G>A	ENSP00000321475:p.Arg321Trp	False	False		Somatic	0				CTD-2552K11.2_ENST00000524355.1_RNA	p.R321W	NM_001081675.2	NP_001075144.2	WXS	Illumina HiSeq	Phase_I	Q2WGJ6	KLH38_HUMAN			1	984	-			321					A0PK12	Missense_Mutation	SNP	ENST00000325995.7	37	c.961C>T	CCDS43766.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.974222	0.34848	2.48E-4	1.2E-4	ENSG00000175946	ENST00000325995	T	0.67523	-0.27	5.18	4.3	0.51218	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.78597	0.4308	M	0.81802	2.56	0.52501	D	0.999951	D	0.71674	0.998	P	0.60949	0.881	T	0.79978	-0.1575	10	0.49607	T	0.09	.	11.7522	0.51855	0.0:0.1336:0.7277:0.1387	.	321	Q2WGJ6	KLH38_HUMAN	W	321	ENSP00000321475:R321W	ENSP00000321475:R321W	R	-	1	2	KLHL38	124733387	1.000000	0.71417	0.702000	0.30337	0.211000	0.24417	5.438000	0.66550	1.290000	0.44636	-0.314000	0.08810	CGG		0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381288.1	0			8:124664206
IGSF10	285313	broad.mit.edu	37	3	151160955	151160955	+	Missense_Mutation	SNP	C	C	T	rs370577126		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:151160955C>T	ENST00000282466.3	-	5	5779	c.5780G>A	c.(5779-5781)cGa>cAa	p.R1927Q	IGSF10_ENST00000495443.1_5'Flank	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1927	Ig-like C2-type 5.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACTACTCTTCGCTCCGAACC	0.433																																						ENST00000282466.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(5779-5781)cGa>cAa		immunoglobulin superfamily, member 10		C	GLN/ARG	0,4406		0,0,2203	111.0	114.0	113.0		5780	4.1	0.8	3		113	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGSF10	NM_178822.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1927/2624	151160955	1,13005	2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151160955C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.5780G>A	3.37:g.151160955C>T	ENSP00000282466:p.Arg1927Gln	False	False		Somatic	0					p.R1927Q	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	WXS	Illumina HiSeq	Phase_I	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		5	5779	-			1927			Ig-like C2-type 5.		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.5780G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360817	0.61403	0.0	1.16E-4	ENSG00000152580	ENST00000282466;ENST00000544042	T	0.66099	-0.19	5.01	4.1	0.47936	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000082	T	0.72503	0.3468	L	0.48642	1.525	0.38886	D	0.957016	D	0.89917	1.0	D	0.91635	0.999	T	0.73251	-0.4042	9	.	.	.	.	14.9921	0.71396	0.0:0.8565:0.1435:0.0	.	1927	Q6WRI0	IGS10_HUMAN	Q	1927;554	ENSP00000282466:R1927Q	.	R	-	2	0	IGSF10	152643645	0.976000	0.34144	0.759000	0.31340	0.552000	0.35366	4.862000	0.62976	1.055000	0.40461	0.591000	0.81541	CGA		0.433	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	0	NM_178822		3:151160955
HTR2A	3356	broad.mit.edu	37	13	47466615	47466615	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr13:47466615C>T	ENST00000378688.4	-	2	654	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I|HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	175					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGGATGGCGACGTAGCGGTCC	0.537																																						ENST00000378688.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(523-525)Gtc>Atc		5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						245.0	235.0	238.0					13																	47466615		2203	4300	6503	SO:0001583	missense	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47466615C>T	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.523G>A	13.37:g.47466615C>T	ENSP00000367959:p.Val175Ile	False	False		Somatic	0				HTR2A_ENST00000542664.1_Missense_Mutation_p.V175I|HTR2A_ENST00000543956.1_Missense_Mutation_p.V91I	p.V175I			WXS	Illumina HiSeq	Phase_I	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	2	654	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	175					B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	ENST00000378688.4	37	c.523G>A	CCDS9405.1	.	.	.	.	.	.	.	.	.	.	C	9.123	1.009491	0.19277	.	.	ENSG00000102468	ENST00000378688;ENST00000543956;ENST00000542664	T;T;T	0.38560	2.16;1.13;2.16	6.16	5.22	0.72569	GPCR, rhodopsin-like superfamily (1);	0.056991	0.64402	D	0.000002	T	0.11965	0.0291	N	0.01242	-0.935	0.41185	D	0.986261	B;B	0.16603	0.013;0.018	B;B	0.19391	0.022;0.025	T	0.39623	-0.9605	10	0.02654	T	1	.	4.7372	0.12993	0.0:0.7455:0.0:0.2545	.	91;175	F5GWE8;P28223	.;5HT2A_HUMAN	I	175;91;175	ENSP00000367959:V175I;ENSP00000441861:V91I;ENSP00000437737:V175I	ENSP00000367959:V175I	V	-	1	0	HTR2A	46364616	0.999000	0.42202	0.441000	0.26858	0.958000	0.62258	3.377000	0.52425	2.937000	0.99478	0.650000	0.86243	GTC		0.537	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3	0	NM_000621		13:47466615
ACTC1	70	broad.mit.edu	37	15	35084689	35084689	+	Missense_Mutation	SNP	C	C	T	rs201921957		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr15:35084689C>T	ENST00000290378.4	-	4	1191	c.536G>A	c.(535-537)cGt>cAt	p.R179H	RP11-814P5.1_ENST00000503496.1_RNA|RP11-814P5.1_ENST00000558707.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	179					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CAGATCCAGACGCATGATGGC	0.547																																						ENST00000290378.4		NA																	0				central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31						c.(535-537)cGt>cAt		actin, alpha, cardiac muscle 1							153.0	132.0	139.0					15																	35084689		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35084689C>T	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.536G>A	15.37:g.35084689C>T	ENSP00000290378:p.Arg179His	False	False		Somatic	0				ACTC1_ENST00000557860.1_5'UTR|RP11-814P5.1_ENST00000503496.1_RNA	p.R179H	NM_005159.4	NP_005150.1	WXS	Illumina HiSeq	Phase_I	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	4	1191	-		all_lung(180;2.3e-08)	179					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.536G>A	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	C	16.59	3.167082	0.57476	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.94966	-3.57	4.99	4.99	0.66335	.	0.000000	0.53938	U	0.000042	D	0.96225	0.8769	M	0.81682	2.555	0.80722	D	1	D	0.53462	0.96	P	0.52267	0.694	D	0.96705	0.9521	10	0.87932	D	0	.	18.8258	0.92117	0.0:1.0:0.0:0.0	.	179	P68032	ACTC_HUMAN	H	179;144	ENSP00000290378:R179H	ENSP00000290378:R179H	R	-	2	0	ACTC1	32871981	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.499000	0.81566	2.755000	0.94549	0.591000	0.81541	CGT		0.547	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3	0	NM_005159		15:35084689
COL18A1	80781	broad.mit.edu	37	21	46925862	46925862	+	Missense_Mutation	SNP	C	C	A	rs377152291	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr21:46925862C>A	ENST00000359759.4	+	36	4464	c.4443C>A	c.(4441-4443)aaC>aaA	p.N1481K	COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|SLC19A1_ENST00000567670.1_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1481	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCGTGCAGAACGGGTTCCGGA	0.667																																						ENST00000359759.4		NA																	0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(4441-4443)aaC>aaA		collagen, type XVIII, alpha 1							100.0	118.0	112.0					21																	46925862		2091	4187	6278	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46925862C>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4443C>A	21.37:g.46925862C>A	ENSP00000352798:p.Asn1481Lys	True	False		Somatic	0				COL18A1_ENST00000400337.2_Missense_Mutation_p.N1066K|COL18A1_ENST00000355480.5_Missense_Mutation_p.N1246K|SLC19A1_ENST00000567670.1_Intron	p.N1481K			WXS	Illumina HiSeq	Phase_I	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	36	4464	+			1481			Nonhelical region 11 (NC11).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.4443C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.69|11.69	1.714181|1.714181	0.30413|0.30413	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.39787|.	1.06;1.06;1.06;1.06|.	3.69|3.69	-5.5|-5.5	0.02576|0.02576	Collagenase NC10/endostatin (1);|.	0.392987|.	0.24798|.	U|.	0.035513|.	T|T	0.41604|0.41604	0.1166|0.1166	L|L	0.41236|0.41236	1.265|1.265	0.34304|0.34304	D|D	0.684693|0.684693	D;P;P;P|.	0.53312|.	0.959;0.8;0.949;0.901|.	P;B;P;B|.	0.55055|.	0.767;0.392;0.655;0.338|.	T|T	0.49000|0.49000	-0.8984|-0.8984	10|5	0.10377|.	T|.	0.69|.	.|.	7.3656|7.3656	0.26770|0.26770	0.0:0.1979:0.1207:0.6814|0.0:0.1979:0.1207:0.6814	.|.	1481;1063;1246;1066|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	K|K	1066;1066;1246;1481;1481;414|62	ENSP00000383191:N1066K;ENSP00000347665:N1246K;ENSP00000352798:N1481K;ENSP00000339118:N414K|.	ENSP00000339118:N414K|.	N|T	+|+	3|2	2|0	COL18A1|COL18A1	45750290|45750290	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.156000|0.156000	0.22039|0.22039	-1.776000|-1.776000	0.01781|0.01781	-1.191000|-1.191000	0.02695|0.02695	-0.658000|-0.658000	0.03865|0.03865	AAC|ACG		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1	0			21:46925862
ZIM2	23619	broad.mit.edu	37	19	57286068	57286068	+	Silent	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr19:57286068G>A	ENST00000391708.3	-	12	2114	c.1572C>T	c.(1570-1572)tgC>tgT	p.C524C	AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000601070.1_Silent_p.C524C|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000599935.1_Silent_p.C524C|ZIM2_ENST00000593711.1_Silent_p.C524C|ZIM2_ENST00000221722.5_Silent_p.C524C	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	524					regulation of transcription, DNA-templated (GO:0006355)|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)	p.C524C(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		AACAGTGATCGCACTCAACAG	0.458																																						ENST00000391708.3		NA																	1	Substitution - coding silent(1)	p.C524C(1)	large_intestine(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1570-1572)tgC>tgT		zinc finger, imprinted 2							92.0	88.0	89.0					19																	57286068		2203	4300	6503	SO:0001819	synonymous_variant	23619							g.chr19:57286068G>A	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.1572C>T	19.37:g.57286068G>A		False	False		Somatic	0				ZIM2_ENST00000593711.1_Silent_p.C524C|ZIM2_ENST00000599935.1_Silent_p.C524C|AC006115.3_ENST00000597946.1_RNA|ZIM2_ENST00000601070.1_Silent_p.C524C|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000221722.5_Silent_p.C524C|AC006115.3_ENST00000595954.1_RNA	p.C524C	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	WXS	Illumina HiSeq	Phase_I				GBM - Glioblastoma multiforme(193;0.0314)	12	2114	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	NA					Q2M3K1	Silent	SNP	ENST00000391708.3	37	c.1572C>T	CCDS33123.1																																																																																				0.458	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416094.2	0			19:57286068
DUSP27	92235	broad.mit.edu	37	1	167095421	167095421	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:167095421C>T	ENST00000361200.2	+	6	1219	c.1053C>T	c.(1051-1053)taC>taT	p.Y351Y	DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	351					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.Y351Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGAAACTGTACGAGCAGTGGA	0.662																																						ENST00000361200.2		NA																	1	Substitution - coding silent(1)	p.Y351Y(1)	prostate(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(1051-1053)taC>taT		dual specificity phosphatase 27 (putative)							37.0	41.0	40.0					1																	167095421		2203	4299	6502	SO:0001819	synonymous_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167095421C>T	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.1053C>T	1.37:g.167095421C>T		False	False		Somatic	0				DUSP27_ENST00000443333.1_Silent_p.Y351Y|DUSP27_ENST00000271385.5_Silent_p.Y351Y|DUSP27_ENST00000485151.1_3'UTR	p.Y351Y			WXS	Illumina HiSeq	Phase_I	Q5VZP5	DUS27_HUMAN			6	1219	+			351					A0AUM4|Q9C074	Silent	SNP	ENST00000361200.2	37	c.1053C>T	CCDS30932.1																																																																																				0.662	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	0	NM_001080426		1:167095421
CDH7	1005	broad.mit.edu	37	18	63526217	63526217	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr18:63526217G>A	ENST00000397968.2	+	9	1855	c.1429G>A	c.(1429-1431)Gat>Aat	p.D477N	CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000536984.2_Missense_Mutation_p.D477N	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	477	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TGACATCAATGATAACGCCCC	0.428																																						ENST00000536984.2		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(1429-1431)Gat>Aat		cadherin 7, type 2							87.0	82.0	83.0					18																	63526217		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63526217G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1429G>A	18.37:g.63526217G>A	ENSP00000381058:p.Asp477Asn	False	False		Somatic	0				CDH7_ENST00000323011.3_Missense_Mutation_p.D477N|CDH7_ENST00000397968.2_Missense_Mutation_p.D477N	p.D477N			WXS	Illumina HiSeq	Phase_I	Q9ULB5	CADH7_HUMAN			9	2123	+		Esophageal squamous(42;0.129)	477			Cadherin 4.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.1429G>A	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	34	5.403313	0.96051	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.75367	-0.93;-0.93;-0.93	5.32	5.32	0.75619	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.91693	0.7374	H	0.97707	4.06	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.83275	0.945;0.996	D	0.94311	0.7545	10	0.87932	D	0	.	19.347	0.94367	0.0:0.0:1.0:0.0	.	477;477	F5H5X9;Q9ULB5	.;CADH7_HUMAN	N	477	ENSP00000319166:D477N;ENSP00000443030:D477N;ENSP00000381058:D477N	ENSP00000319166:D477N	D	+	1	0	CDH7	61677197	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	9.666000	0.98612	2.648000	0.89879	0.467000	0.42956	GAT		0.428	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	0	NM_033646		18:63526217
MYBBP1A	10514	broad.mit.edu	37	17	4458561	4458561	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:4458561G>A	ENST00000254718.4	-	1	365	c.59C>T	c.(58-60)gCc>gTc	p.A20V	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	20	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGCAGGCCGGGCGCCACTCTG	0.637																																						ENST00000254718.4		NA																	0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(58-60)gCc>gTc		MYB binding protein (P160) 1a							19.0	21.0	20.0					17																	4458561		2201	4299	6500	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4458561G>A	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.59C>T	17.37:g.4458561G>A	ENSP00000254718:p.Ala20Val	True	False		Somatic	0				MYBBP1A_ENST00000381556.2_Missense_Mutation_p.A20V	p.A20V			WXS	Illumina HiSeq	Phase_I	Q9BQG0	MBB1A_HUMAN			1	365	-			20			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.59C>T	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.590249	0.28357	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.18657	2.2;2.21	3.65	-2.44	0.06502	.	0.961415	0.08483	N	0.939134	T	0.08537	0.0212	N	0.12182	0.205	0.09310	N	1	B;B	0.11235	0.002;0.004	B;B	0.11329	0.003;0.006	T	0.35450	-0.9788	10	0.23302	T	0.38	.	1.0496	0.01577	0.3956:0.1515:0.2986:0.1543	.	20;20	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	V	20	ENSP00000370968:A20V;ENSP00000254718:A20V	ENSP00000254718:A20V	A	-	2	0	MYBBP1A	4405310	0.095000	0.21747	0.011000	0.14972	0.013000	0.08279	-0.258000	0.08733	-0.739000	0.04809	-0.952000	0.02654	GCC		0.637	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	0	NM_014520		17:4458561
ADAMTS16	170690	broad.mit.edu	37	5	5303737	5303737	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:5303737G>A	ENST00000274181.7	+	20	3182	c.3044G>A	c.(3043-3045)aGc>aAc	p.S1015N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	1015	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GCCTGTAAGAGCACCAACCCC	0.627																																						ENST00000274181.7		NA																	0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(3043-3045)aGc>aAc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							48.0	58.0	54.0					5																	5303737		2164	4263	6427	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5303737G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.3044G>A	5.37:g.5303737G>A	ENSP00000274181:p.Ser1015Asn	False	False		Somatic	0					p.S1015N	NM_139056.2	NP_620687.2	WXS	Illumina HiSeq	Phase_I	Q8TE57	ATS16_HUMAN			20	3182	+			1015			TSP type-1 4.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.3044G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689063	0.68271	.	.	ENSG00000145536	ENST00000274181	T	0.55234	0.53	4.65	3.78	0.43462	.	0.049330	0.85682	D	0.000000	T	0.45236	0.1332	L	0.40543	1.245	0.38037	D	0.93534	B;P	0.35033	0.241;0.481	B;B	0.41088	0.244;0.347	T	0.36696	-0.9737	10	0.17832	T	0.49	.	10.7639	0.46281	0.0945:0.0:0.9055:0.0	.	1015;1015	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	N	1015	ENSP00000274181:S1015N	ENSP00000274181:S1015N	S	+	2	0	ADAMTS16	5356737	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	3.713000	0.54882	1.069000	0.40788	0.650000	0.86243	AGC		0.627	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	0	NM_139056		5:5303737
RIMS1	22999	broad.mit.edu	37	6	73043409	73043409	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:73043409G>A	ENST00000521978.1	+	29	4237	c.4237G>A	c.(4237-4239)Ggc>Agc	p.G1413S	RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S|RIMS1_ENST00000264839.7_Missense_Mutation_p.G1262S|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000518273.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1413					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)				GCATAATGACGGCAGCCAGTC	0.522																																						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.(3784-3786)Ggc>Agc		regulating synaptic membrane exocytosis 1							52.0	59.0	57.0					6																	73043409		2057	4192	6249	SO:0001583	missense	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.chr6:73043409G>A	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.4237G>A	6.37:g.73043409G>A	ENSP00000428417:p.Gly1413Ser	False	False		Somatic	0				RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Missense_Mutation_p.G219S|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1236S|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1413S|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1196S|RIMS1_ENST00000517960.1_Missense_Mutation_p.G1196S|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.G733S	p.G1262S			WXS	Illumina HiSeq	Phase_I	Q86UR5	RIMS1_HUMAN			25	3784	+		all_epithelial(107;0.179)|all_hematologic(105;0.212)	1413					A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	c.3784G>A	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.444142|5.444142	0.96187|0.96187	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000264839;ENST00000517960;ENST00000521978;ENST00000401910;ENST00000453976;ENST00000370420;ENST00000538414|ENST00000517433	T;T;T;T;T;T;T;T;T|.	0.22945|.	2.22;2.42;2.34;2.42;2.26;2.34;2.23;1.94;1.93|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.64821|0.64821	0.2633|0.2633	L|L	0.50333|0.50333	1.59|1.59	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.985;1.0;1.0;1.0;1.0|.	D;D;P;D;D;D;D|.	0.91635|.	0.94;0.996;0.681;0.998;0.999;0.999;0.994|.	T|T	0.58825|0.58825	-0.7568|-0.7568	10|5	0.62326|.	D|.	0.03|.	-22.5976|-22.5976	20.1225|20.1225	0.97967|0.97967	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	219;1262;733;1196;489;1236;1413|.	B7Z7W2;E9PHR1;E9PF48;E7ENC2;Q5JY21;C9JNW6;Q86UR5|.	.;.;.;.;.;.;RIMS1_HUMAN|.	S|Q	1236;1262;1236;1196;1262;1196;1413;733;578;461;219|758	ENSP00000430101:G1236S;ENSP00000275037:G1196S;ENSP00000264839:G1262S;ENSP00000429959:G1196S;ENSP00000428417:G1413S;ENSP00000385649:G733S;ENSP00000389503:G578S;ENSP00000359448:G461S;ENSP00000439730:G219S|.	ENSP00000264839:G1262S|.	G|R	+|+	1|2	0|0	RIMS1|RIMS1	73100130|73100130	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.994000|0.994000	0.84299|0.84299	9.813000|9.813000	0.99286|0.99286	2.831000|2.831000	0.97527|0.97527	0.650000|0.650000	0.86243|0.86243	GGC|CGG		0.522	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1	0			6:73043409
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
NELFA	7469	broad.mit.edu	37	4	1985370	1985370	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr4:1985370G>A	ENST00000411638.2	-	10	1370	c.1355C>T	c.(1354-1356)aCg>aTg	p.T452M	NELFA_ENST00000542778.1_Missense_Mutation_p.T317M|NELFA_ENST00000382882.3_Missense_Mutation_p.T463M|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	452					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										CTCGGGCCGCGTGACTTTGTT	0.672																																						ENST00000382882.3		NA																	0					NA						c.(1387-1389)aCg>aTg		negative elongation factor complex member A							60.0	64.0	63.0					4																	1985370		2203	4300	6503	SO:0001583	missense	7469							g.chr4:1985370G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1355C>T	4.37:g.1985370G>A	ENSP00000399165:p.Thr452Met	False	False		Somatic	0				NELFA_ENST00000411638.2_Missense_Mutation_p.T452M|NELFA_ENST00000542778.1_Missense_Mutation_p.T317M	p.T463M			WXS	Illumina HiSeq	Phase_I					10	2505	-			NA					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1388C>T		.	.	.	.	.	.	.	.	.	.	G	18.45	3.625645	0.66901	.	.	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.72326	0.3446	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.76634	-0.2887	10	0.87932	D	0	-16.8991	17.9212	0.88966	0.0:0.0:1.0:0.0	.	452	Q9H3P2	NELFA_HUMAN	M	463;456;317;452	ENSP00000372335:T463M;ENSP00000387647:T456M;ENSP00000445757:T317M;ENSP00000399165:T452M	ENSP00000372335:T463M	T	-	2	0	WHSC2	1955168	1.000000	0.71417	0.914000	0.36105	0.239000	0.25481	7.770000	0.85390	2.248000	0.74166	0.462000	0.41574	ACG		0.672	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1	0	NM_005663		4:1985370
NRXN3	9369	broad.mit.edu	37	14	79746678	79746678	+	Missense_Mutation	SNP	C	C	T	rs372995928		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr14:79746678C>T	ENST00000557594.1	+	1	997	c.44C>T	c.(43-45)cCg>cTg	p.P15L	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000281127.7_Missense_Mutation_p.P15L	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3	15					adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCGCCGGCCGGCCTGGACG	0.572																																						ENST00000281127.7		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(43-45)cCg>cTg		neurexin 3							144.0	142.0	143.0					14																	79746678		2203	4300	6503	SO:0001583	missense	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:79746678C>T	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.44C>T	14.37:g.79746678C>T	ENSP00000451672:p.Pro15Leu	True	False		Somatic	0				NRXN3_ENST00000557594.1_Missense_Mutation_p.P15L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.P15L|NRXN3_ENST00000554719.1_Intron	p.P15L	NM_138970.3	NP_620426.2	WXS	Illumina HiSeq	Phase_I	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	1	923	+		Renal(4;0.00876)	15					A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.44C>T		.	.	.	.	.	.	.	.	.	.	C	21.3	4.132572	0.77662	.	.	ENSG00000021645	ENST00000557594;ENST00000281127;ENST00000428277	T;T;T	0.35789	1.4;1.46;1.29	5.58	5.58	0.84498	.	.	.	.	.	T	0.43590	0.1254	N	0.14661	0.345	0.80722	D	1	D;D;D	0.89917	1.0;0.99;0.983	D;D;D	0.79108	0.992;0.969;0.931	T	0.33420	-0.9869	8	.	.	.	.	17.8182	0.88642	0.0:1.0:0.0:0.0	.	15;15;15	Q9HDB5-4;Q9HDB5-2;Q9HDB5	.;.;NRX3B_HUMAN	L	15	ENSP00000451672:P15L;ENSP00000281127:P15L;ENSP00000394426:P15L	.	P	+	2	0	NRXN3	78816431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.259000	0.43259	2.647000	0.89833	0.558000	0.71614	CCG		0.572	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	0	NM_001105250		14:79746678
MYT1	4661	broad.mit.edu	37	20	62838994	62838994	+	Missense_Mutation	SNP	G	G	A	rs546737046	byFrequency	TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr20:62838994G>A	ENST00000328439.1	+	7	809	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000536311.1_Missense_Mutation_p.A149T	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CATCGGCAGCGCCACTGCCTC	0.552													g|||	2	0.000399361	0.0008	0.0	5008	,	,		16938	0.0		0.0	False		,,,				2504	0.001				GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1		NA																	0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(445-447)Gcc>Acc		myelin transcription factor 1							75.0	81.0	79.0					20																	62838994		2203	4300	6503	SO:0001583	missense	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62838994G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.445G>A	20.37:g.62838994G>A	ENSP00000327465:p.Ala149Thr	False	False		Somatic	0				MYT1_ENST00000328439.1_Missense_Mutation_p.A149T|MYT1_ENST00000360149.4_Intron	p.A149T			WXS	Illumina HiSeq	Phase_I	Q01538	MYT1_HUMAN			7	809	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		149					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	ENST00000328439.1	37	c.445G>A	CCDS13558.1	.	.	.	.	.	.	.	.	.	.	g	6.847	0.525511	0.13066	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.45276	0.9;0.91	4.32	-0.391	0.12446	.	0.867931	0.10082	N	0.718370	T	0.14227	0.0344	N	0.03608	-0.345	0.20196	N	0.99992	B	0.02656	0.0	B	0.01281	0.0	T	0.24584	-1.0156	10	0.13470	T	0.59	-1.3728	1.1079	0.01698	0.2243:0.3488:0.2532:0.1737	.	149	Q01538	MYT1_HUMAN	T	149	ENSP00000327465:A149T;ENSP00000442412:A149T	ENSP00000327465:A149T	A	+	1	0	MYT1	62309438	0.001000	0.12720	0.061000	0.19648	0.619000	0.37552	-0.116000	0.10724	-0.138000	0.11434	-0.267000	0.10333	GCC		0.552	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	0	NM_004535		20:62838994
C17orf97	400566	broad.mit.edu	37	17	263345	263345	+	Silent	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:263345C>T	ENST00000360127.6	+	2	727	c.711C>T	c.(709-711)ccC>ccT	p.P237P	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	267	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCTTCCACCCCGACCCCGAGG	0.726																																						ENST00000360127.6		NA																	0				breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(709-711)ccC>ccT		chromosome 17 open reading frame 97							7.0	11.0	10.0					17																	263345		1966	3979	5945	SO:0001819	synonymous_variant	400566							g.chr17:263345C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.711C>T	17.37:g.263345C>T		True	False		Somatic	0				AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.P237P	NM_001013672.4	NP_001013694.4	WXS	Illumina HiSeq	Phase_I	Q6ZQX7	CQ097_HUMAN			2	727	+			267			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.711C>T	CCDS32519.2																																																																																				0.726	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	0	NM_001013672		17:263345
ZDBF2	57683	broad.mit.edu	37	2	207174767	207174767	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr2:207174767G>A	ENST00000374423.3	+	5	5901	c.5515G>A	c.(5515-5517)Gat>Aat	p.D1839N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1839							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGAGAGAAGATGACATAAA	0.413																																						ENST00000374423.3		NA																	0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5515-5517)Gat>Aat		zinc finger, DBF-type containing 2							76.0	74.0	75.0					2																	207174767		1869	4108	5977	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174767G>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5515G>A	2.37:g.207174767G>A	ENSP00000363545:p.Asp1839Asn	False	False		Somatic	0					p.D1839N	NM_020923.1	NP_065974.1	WXS	Illumina HiSeq	Phase_I	Q9HCK1	ZDBF2_HUMAN			5	5901	+			1839					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5515G>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233468	0.79688	.	.	ENSG00000204186	ENST00000374423	T	0.71934	-0.61	5.48	4.56	0.56223	.	.	.	.	.	T	0.63663	0.2530	L	0.53249	1.67	0.32979	D	0.523413	P	0.46859	0.885	B	0.37601	0.254	T	0.73329	-0.4017	9	0.46703	T	0.11	.	12.884	0.58032	0.0832:0.0:0.9168:0.0	.	1839	Q9HCK1	ZDBF2_HUMAN	N	1839	ENSP00000363545:D1839N	ENSP00000363545:D1839N	D	+	1	0	ZDBF2	206883012	1.000000	0.71417	0.998000	0.56505	0.954000	0.61252	3.969000	0.56816	1.244000	0.43870	0.551000	0.68910	GAT		0.413	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	0	NM_020923		2:207174767
EPN3	55040	broad.mit.edu	37	17	48608775	48608775	+	5'Flank	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:48608775C>T	ENST00000268933.3	+	0	0				EPN3_ENST00000537145.1_5'Flank|EPN3_ENST00000541226.1_5'Flank|MYCBPAP_ENST00000436259.2_3'UTR|MYCBPAP_ENST00000323776.5_Missense_Mutation_p.R981C	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3							clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGAGGCTTTGCGCCTCTGCAG	0.522																																						ENST00000323776.5		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(2941-2943)Cgc>Tgc		MYCBP associated protein							70.0	59.0	63.0					17																	48608775		2203	4300	6503	SO:0001631	upstream_gene_variant	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48608775C>T	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201			17.37:g.48608775C>T	Exception_encountered	False	False		Somatic	0				MYCBPAP_ENST00000436259.2_3'UTR	p.R981C	NM_032133.4	NP_115509.4	WXS	Illumina HiSeq	Phase_I	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		19	3103	+	Breast(11;1.23e-18)		944					A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	37	c.2941C>T	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	C	9.729	1.161778	0.21538	.	.	ENSG00000136449	ENST00000323776	T	0.26810	1.71	5.1	1.66	0.24008	.	0.990904	0.08203	N	0.981944	T	0.24353	0.0590	L	0.57536	1.79	0.09310	N	1	B	0.17465	0.022	B	0.08055	0.003	T	0.31779	-0.9931	10	0.72032	D	0.01	0.4844	4.9734	0.14127	0.0:0.6024:0.1803:0.2173	.	944	Q8TBZ2	MYBPP_HUMAN	C	981	ENSP00000323184:R981C	ENSP00000323184:R981C	R	+	1	0	MYCBPAP	45963774	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.063000	0.11655	1.040000	0.40099	0.549000	0.68633	CGC		0.522	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	0	NM_017957		17:48608775
CPN2	1370	broad.mit.edu	37	3	194062372	194062372	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr3:194062372G>A	ENST00000323830.3	-	2	1149	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	CPN2_ENST00000429275.1_Missense_Mutation_p.P354S	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	354					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGAGGGCTGGGTGCAGCGCC	0.562																																						ENST00000323830.3		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27						c.(1060-1062)Cca>Tca		carboxypeptidase N, polypeptide 2							72.0	76.0	74.0					3																	194062372		2203	4300	6503	SO:0001583	missense	1370				protein stabilization	extracellular region	enzyme regulator activity	g.chr3:194062372G>A	J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.1060C>T	3.37:g.194062372G>A	ENSP00000319464:p.Pro354Ser	True	False		Somatic	0				CPN2_ENST00000429275.1_Missense_Mutation_p.P354S	p.P354S	NM_001080513.2	NP_001073982	WXS	Illumina HiSeq	Phase_I	P22792	CPN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)	2	1149	-	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		354					B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	c.1060C>T	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	G	0.420	-0.908595	0.02434	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.23950	1.88;1.88	5.56	0.155	0.14906	.	0.211850	0.24065	N	0.041861	T	0.11239	0.0274	N	0.17474	0.49	0.09310	N	1	B	0.17667	0.023	B	0.20577	0.03	T	0.35919	-0.9769	10	0.08179	T	0.78	.	6.8929	0.24241	0.0642:0.3887:0.3736:0.1736	.	354	P22792	CPN2_HUMAN	S	354	ENSP00000319464:P354S;ENSP00000402232:P354S	ENSP00000319464:P354S	P	-	1	0	CPN2	195544067	0.034000	0.19679	0.024000	0.17045	0.784000	0.44337	-0.044000	0.12023	0.080000	0.16959	0.655000	0.94253	CCA		0.562	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	0	NM_001080513		3:194062372
ZFR	51663	broad.mit.edu	37	5	32364367	32364367	+	Silent	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:32364367T>C	ENST00000265069.8	-	18	2952	c.2850A>G	c.(2848-2850)ctA>ctG	p.L950L	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	950	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTTTCTCTACTAGTAACTCCA	0.343																																						ENST00000265069.8		NA																	0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(2848-2850)ctA>ctG		zinc finger RNA binding protein							68.0	69.0	69.0					5																	32364367		2203	4300	6503	SO:0001819	synonymous_variant	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32364367T>C	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.2850A>G	5.37:g.32364367T>C		False	False		Somatic	0				ZFR_ENST00000510369.1_5'UTR	p.L950L	NM_016107.3	NP_057191.2	WXS	Illumina HiSeq	Phase_I	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	18	2952	-			950			DZF.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	Silent	SNP	ENST00000265069.8	37	c.2850A>G	CCDS34139.1																																																																																				0.343	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1	0			5:32364367
TCTE1	202500	broad.mit.edu	37	6	44254103	44254103	+	Silent	SNP	G	G	A	rs146051785		TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr6:44254103G>A	ENST00000371505.4	-	3	566	c.444C>T	c.(442-444)ggC>ggT	p.G148G	TCTE1_ENST00000371503.3_5'UTR|RP11-444E17.6_ENST00000505802.1_Intron|TCTE1_ENST00000371504.1_5'Flank|TMEM151B_ENST00000438774.2_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	148										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCCAGCTGCCGCCATGGTGGG	0.607																																						ENST00000371505.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(442-444)ggC>ggT		t-complex-associated-testis-expressed 1		G		1,4405	2.1+/-5.4	0,1,2202	70.0	64.0	66.0		444	-3.5	0.9	6	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TCTE1	NM_182539.3		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		148/502	44254103	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	202500							g.chr6:44254103G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.444C>T	6.37:g.44254103G>A		False	False		Somatic	0				RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_5'UTR	p.G148G	NM_182539.3	NP_872345.2	WXS	Illumina HiSeq	Phase_I	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		3	566	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		148					B4DX59|Q8IYS6	Silent	SNP	ENST00000371505.4	37	c.444C>T	CCDS4910.1																																																																																				0.607	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	0	NM_182539		6:44254103
ARSI	340075	broad.mit.edu	37	5	149677192	149677192	+	Missense_Mutation	SNP	C	C	T			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr5:149677192C>T	ENST00000328668.7	-	2	1874	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	432					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCCATAGCCGGGGTCTCC	0.657																																						ENST00000328668.7		NA																	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23						c.(1294-1296)gGc>gAc		arylsulfatase family, member I							33.0	37.0	36.0					5																	149677192		2203	4300	6503	SO:0001583	missense	340075					endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding	g.chr5:149677192C>T	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.1295G>A	5.37:g.149677192C>T	ENSP00000333395:p.Gly432Asp	False	False		Somatic	0					p.G432D	NM_001012301.2	NP_001012301.1	WXS	Illumina HiSeq	Phase_I	Q5FYB1	ARSI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	1874	-			432					A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	c.1295G>A	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.481846	0.63849	.	.	ENSG00000183876	ENST00000328668;ENST00000515301	D;D	0.98313	-4.86;-4.86	4.45	4.45	0.53987	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.98147	0.9388	L	0.43598	1.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97760	1.0220	10	0.27785	T	0.31	.	17.2703	0.87099	0.0:1.0:0.0:0.0	.	432	Q5FYB1	ARSI_HUMAN	D	432;289	ENSP00000333395:G432D;ENSP00000426879:G289D	ENSP00000333395:G432D	G	-	2	0	ARSI	149657385	1.000000	0.71417	0.899000	0.35326	0.734000	0.41952	7.320000	0.79064	2.296000	0.77279	0.561000	0.74099	GGC		0.657	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373681.1	0	NM_001012301		5:149677192
FBXW10	10517	broad.mit.edu	37	17	18668178	18668178	+	Splice_Site	SNP	T	T	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr17:18668178T>C	ENST00000395665.4	+	8	1776		c.e8+2		FBXW10_ENST00000308799.4_Splice_Site|FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10											NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AGGTAAAAGGTGAGAAAGAAG	0.443																																						ENST00000308799.4		NA																	0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.e7+2		F-box and WD repeat domain containing 10							54.0	64.0	61.0					17																	18668178		2200	4293	6493	SO:0001630	splice_region_variant	10517							g.chr17:18668178T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1555+2T>C	17.37:g.18668178T>C		False	False		Somatic	0				FBXW10_ENST00000301938.4_Splice_Site|FBXW10_ENST00000395667.1_Splice_Site|FBXW10_ENST00000395665.4_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q5XX13	FBW10_HUMAN			7	1861	+			NA					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Splice_Site	SNP	ENST00000395665.4	37		CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856478	0.32791	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	.	.	.	3.59	3.59	0.41128	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2006	0.43082	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBXW10	18608903	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.453000	0.73488	1.491000	0.48482	0.163000	0.16589	.		0.443	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	0	NM_031456	Intron	17:18668178
CXorf21	80231	broad.mit.edu	37	X	30577625	30577625	+	Missense_Mutation	SNP	A	A	C			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chrX:30577625A>C	ENST00000378962.3	-	3	1170	c.848T>G	c.(847-849)aTt>aGt	p.I283S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	283										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AATTTCAGTAATTTCAGTTGA	0.383																																						ENST00000378962.3		NA																	0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						c.(847-849)aTt>aGt		chromosome X open reading frame 21							78.0	68.0	71.0					X																	30577625		2202	4300	6502	SO:0001583	missense	80231							g.chrX:30577625A>C	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.848T>G	X.37:g.30577625A>C	ENSP00000368245:p.Ile283Ser	True	False		Somatic	0					p.I283S	NM_025159.2	NP_079435.1	WXS	Illumina HiSeq	Phase_I	Q9HAI6	CX021_HUMAN			3	1170	-			283						Missense_Mutation	SNP	ENST00000378962.3	37	c.848T>G	CCDS14224.1	.	.	.	.	.	.	.	.	.	.	A	7.306	0.613922	0.14066	.	.	ENSG00000120280	ENST00000378962	.	.	.	5.11	5.11	0.69529	.	0.662303	0.11137	U	0.595712	T	0.35913	0.0948	N	0.12182	0.205	0.33979	D	0.647716	P	0.49783	0.928	P	0.49226	0.603	T	0.08046	-1.0741	9	0.02654	T	1	.	13.9975	0.64411	1.0:0.0:0.0:0.0	.	283	Q9HAI6	CX021_HUMAN	S	283	.	ENSP00000368245:I283S	I	-	2	0	CXorf21	30487546	1.000000	0.71417	0.999000	0.59377	0.772000	0.43724	8.322000	0.90000	1.880000	0.54463	0.417000	0.27973	ATT		0.383	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	0	NM_025159		X:30577625
TMEM82	388595	broad.mit.edu	37	1	16069389	16069389	+	Missense_Mutation	SNP	G	G	A			TCGA-F2-6879-01A-11D-2154-08	TCGA-F2-6879-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	5ddd3f83-28a8-4b7f-9aec-203a3c2efbe5	c043e276-fece-4cb9-a848-a0b16e6099b6	g.chr1:16069389G>A	ENST00000375782.1	+	2	286	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	TMEM82_ENST00000465575.1_Intron|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	50	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTACTTCTTCGTGGGCTGTGC	0.662																																						ENST00000375782.1		NA																	0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13						c.(148-150)Gtg>Atg		transmembrane protein 82							34.0	30.0	31.0					1																	16069389		2203	4300	6503	SO:0001583	missense	388595					integral to membrane		g.chr1:16069389G>A		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.148G>A	1.37:g.16069389G>A	ENSP00000364938:p.Val50Met	False	False		Somatic	0				TMEM82_ENST00000465575.1_Intron|RP11-169K16.4_ENST00000418525.1_RNA	p.V50M	NM_001013641.1	NP_001013663.1	WXS	Illumina HiSeq	Phase_I	A0PJX8	TMM82_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	286	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	50			Leu-rich.		B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	37	c.148G>A	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	G	18.65	3.670358	0.67814	.	.	ENSG00000162460	ENST00000375782	T	0.50277	0.75	4.48	2.05	0.26809	.	0.816927	0.10716	N	0.642304	T	0.53674	0.1811	M	0.62723	1.935	0.22240	N	0.99926	D	0.63046	0.992	P	0.54706	0.759	T	0.41770	-0.9490	10	0.72032	D	0.01	-12.4796	5.2429	0.15481	0.1953:0.1904:0.6142:0.0	.	50	A0PJX8	TMM82_HUMAN	M	50	ENSP00000364938:V50M	ENSP00000364938:V50M	V	+	1	0	TMEM82	15941976	0.000000	0.05858	0.996000	0.52242	0.935000	0.57460	0.266000	0.18534	0.953000	0.37825	0.556000	0.70494	GTG		0.662	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	0	NM_001013641		1:16069389
