#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
ACTRT2	140625	broad.mit.edu	37	1	2938408	2938410	+	In_Frame_Del	DEL	AGA	AGA	-	rs4013154|rs201580305	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:2938408_2938410delAGA	ENST00000378404.2	+	1	363_365	c.158_160delAGA	c.(157-162)cagaag>cag	p.K55del		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	55				Missing (in Ref. 5; AAH29499). {ECO:0000305}.		cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GAGGCCAACCAGAAGAAGTACTT	0.611														563	0.11242	0.0106	0.2176	5008	,	,		17049	0.1925		0.1581	False		,,,				2504	0.046					ENST00000378404.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(157-162)cagaag>cag		actin-related protein T2				152,4114		9,134,1990						4.1	0.8		dbSNP_108	43	1412,6842		109,1194,2824	no	coding	ACTRT2	NM_080431.4		118,1328,4814	A1A1,A1R,RR		17.1069,3.5631,12.492				1564,10956				SO:0001651	inframe_deletion	140625					cytoplasm|cytoskeleton		g.chr1:2938408_2938410delAGA	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.158_160delAGA	1.37:g.2938411_2938413delAGA	ENSP00000367658:p.Lys55del	False	False		Somatic	2					p.K55del	NM_080431.4	NP_536356.3	WXS	Illumina HiSeq	Phase_I	Q8TDY3	ACTT2_HUMAN		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)	1	363_365	+	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	55	Missing (in Ref. 5; AAH29499).				B1AN52|Q8NHS6|Q8TDG1	In_Frame_Del	DEL	ENST00000378404.2	37	c.158_160delAGA	CCDS45.1																																																																																				0.611	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	0	NM_080431		1:2938408
GPSM2	29899	broad.mit.edu	37	1	109465166	109465168	+	In_Frame_Del	DEL	CTT	CTT	-	rs374875864|rs79761186|rs35029887|rs201481482	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CTT	CTT	-	-	CTT	CTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:109465166_109465168delCTT	ENST00000406462.2	+	14	2341_2343	c.1568_1570delCTT	c.(1567-1572)acttct>act	p.S525del	GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	525					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		TCAACAACAACTTCTTCCACTCC	0.374																																						ENST00000406462.1		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14						c.(1567-1572)acttct>act		G-protein signaling modulator 2				2409,1857		681,1047,405						-3.5	0.0		dbSNP_126	157	2331,5923		336,1659,2132	no	coding	GPSM2	NM_013296.4		1017,2706,2537	A1A1,A1R,RR		28.2409,43.5302,37.8594				4740,7780				SO:0001651	inframe_deletion	29899				G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding	g.chr1:109465166_109465168delCTT	AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.1568_1570delCTT	1.37:g.109465169_109465171delCTT	ENSP00000385510:p.Ser525del	True	False		Somatic	2				AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_In_Frame_Del_p.S525del	p.S525del			WXS	Illumina HiSeq	Phase_I	P81274	GPSM2_HUMAN		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)	14	2341_2343	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	525					Q5T1N8|Q6IBL7|Q8N0Z5	In_Frame_Del	DEL	ENST00000406462.2	37	c.1568_1570delCTT	CCDS792.2																																																																																				0.374	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032400.3	0	NM_013296		1:109465166
OVGP1	5016	broad.mit.edu	37	1	111957548	111957592	+	In_Frame_Del	DEL	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	-	rs74322126|rs113984808|rs1126656|rs368203827|rs375218077|rs140282461|rs201662631|rs374835032|rs376377993|rs201210901|rs75512011|rs369687480|rs145862799|rs45455292|rs386634633|rs56294468|rs551744565|rs150261549|rs374145757	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	-	-	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	GGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:111957548_111957592delGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	ENST00000369732.3	-	11	1586_1630	c.1531_1575delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACC	c.(1531-1575)tctgtgggttatcagtctgtgacccctggggaaaagaccctgaccdel	p.SVGYQSVTPGEKTLT511del		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	511				S -> P (in Ref. 2; AAB04126). {ECO:0000305}.	binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|female pregnancy (GO:0007565)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|single fertilization (GO:0007338)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|egg coat (GO:0035805)|perivitelline space (GO:0098595)	chitinase activity (GO:0004568)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GACCCACAGGGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGAGGTCAGGGTC	0.555																																						ENST00000369732.3		NA																	0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39						c.(1531-1575)tctgtgggttatcagtctgtgacccctggggaaaagaccctgaccdel		oviductal glycoprotein 1, 120kDa				862,3380		71,720,1330						-0.4	0.0		dbSNP_107	55	1265,6727		180,905,2911	no	coding	OVGP1	NM_002557.3		251,1625,4241	A1A1,A1R,RR		15.8283,20.3206,17.386				2127,10107				SO:0001651	inframe_deletion	5016				chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	g.chr1:111957548_111957592delGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	U09550	CCDS834.1	1p13.2	2008-07-31	2008-07-31		ENSG00000085465	ENSG00000085465		"""Mucins"""	8524	protein-coding gene	gene with protein product	"""oviductin"""	603578	"""mucin 9"""	MUC9		7819450, 9341614	Standard	NM_002557		Approved	CHIT5	uc001eba.3	Q12889	OTTHUMG00000011746	ENST00000369732.3:c.1531_1575delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACC	1.37:g.111957548_111957592delGGTCAGGGTCTTTTCCCCAGGGGTCACAGACTGATAACCCACAGA	ENSP00000358747:p.Ser511_Thr525del	True	False		Somatic	1					p.SVGYQSVTPGEKTLT511del	NM_002557.3	NP_002548.3	WXS	Illumina HiSeq	Phase_I	Q12889	OVGP1_HUMAN		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)	11	1586_1630	-		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)	511	S -> P (in Ref. 2; AAB04126).				A0AV19|B9EGE1|Q15841	In_Frame_Del	DEL	ENST00000369732.3	37	c.1531_1575delTCTGTGGGTTATCAGTCTGTGACCCCTGGGGAAAAGACCCTGACC	CCDS834.1																																																																																				0.555	OVGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032461.1	0	NM_002557		1:111957548
KMT2D	8085	broad.mit.edu	37	12	49445039	49445092	+	In_Frame_Del	DEL	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	rs564275104|rs201778313|rs368323505		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	-	-	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	CTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENST00000301067.7	-	10	2373_2426	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel	p.AEGPHLSPQPEELHLSPQ792del		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	792	Pro-rich.			Missing (in Ref. 1; AAC51734). {ECO:0000305}.	chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GCTCCTCAGTCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGCCTGGGGGGAC	0.638																																						ENST00000301067.7		NA																	0					NA						c.(2374-2427)gctgagggaccacatctgtcccctcagcctgaggaattgcacctgtccccccagdel		lysine (K)-specific methyltransferase 2D																																				SO:0001651	inframe_deletion	8085							g.chr12:49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	12.37:g.49445039_49445092delCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC	ENSP00000301067:p.Ala792_Gln809del	False	False		Somatic	1					p.AEGPHLSPQPEELHLSPQ792del	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					10	2373_2426	-			NA					O14687	In_Frame_Del	DEL	ENST00000301067.7	37	c.2374_2427delGCTGAGGGACCACATCTGTCCCCTCAGCCTGAGGAATTGCACCTGTCCCCCCAG	CCDS44873.1																																																																																				0.638	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49445039
SLC9A7P1	121456	broad.mit.edu	37	12	98849803	98849804	+	RNA	DEL	AT	AT	-	rs61677852	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AT	AT	-	-	AT	AT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:98849803_98849804delAT	ENST00000554295.1	-	0	1119_1120					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GCTCCAGGACATGAGGAAGAAG	0.485														386	0.0770767	0.1868	0.0807	5008	,	,		22145	0.0218		0.0567	False		,,,				2504	0.0041					ENST00000554295.1		NA																	0					NA																																														0							g.chr12:98849803_98849804delAT			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98849803_98849804delAT		False	False		Somatic	1						NR_033801.1		WXS	Illumina HiSeq	Phase_I					0	1119_1120	-			NA						RNA	DEL	ENST00000554295.1	37																																																																																						0.485	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1	0			12:98849803
SELPLG	6404	broad.mit.edu	37	12	109017412	109017471	+	In_Frame_Del	DEL	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	-	rs149850567|rs188941939|rs139943851|rs201594825|rs61762486|rs139716114|rs145879971|rs201621377|rs145450050|rs74792300|rs201689859|rs570639292|rs534284049|rs557411029|rs536107266	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	-	-	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	AGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:109017412_109017471delAGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	ENST00000550948.1	-	2	837_896	c.613_672delGCACCAGCAGCCATGGAAGCACAGACCACTCCACCAGCAGCCATGGAGGCACAGACCACT	c.(613-672)gcaccagcagccatggaagcacagaccactccaccagcagccatggaggcacagaccactdel	p.APAAMEAQTTPPAAMEAQTT205del	SELPLG_ENST00000228463.6_In_Frame_Del_p.APAAMEAQTTPPAAMEAQTT221del|SELPLG_ENST00000388962.3_In_Frame_Del_p.APAAMEAQTTPPAAMEAQTT195del			Q14242	SELPL_HUMAN	selectin P ligand	205	12 X 10 AA tandem repeats.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to interleukin-6 (GO:0071354)|leukocyte adhesive activation (GO:0050902)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						CTGTGGTTTGAGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGCAGTGGTCTGT	0.619																																						ENST00000228463.6		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						c.(661-720)gcaccagcagccatggaagcacagaccactccaccagcagccatggaggcacagaccactdel		selectin P ligand																																				SO:0001651	inframe_deletion	0				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding	g.chr12:109017412_109017471delAGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC		CCDS31895.1, CCDS31895.2, CCDS55881.1	12q24	2014-01-30						"""CD molecules"", ""Endogenous ligands"""	10722	protein-coding gene	gene with protein product		600738				7505206	Standard	NM_003006		Approved	PSGL-1, CD162	uc010sxe.2	Q14242		ENST00000550948.1:c.613_672delGCACCAGCAGCCATGGAAGCACAGACCACTCCACCAGCAGCCATGGAGGCACAGACCACT	12.37:g.109017412_109017471delAGTGGTCTGTGCCTCCATGGCTGCTGGTGGAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	ENSP00000447752:p.Ala205_Thr224del	False	False		Somatic	1				SELPLG_ENST00000388962.3_In_Frame_Del_p.APAAMEAQTTPPAAMEAQTT195del|SELPLG_ENST00000550948.1_In_Frame_Del_p.APAAMEAQTTPPAAMEAQTT205del	p.APAAMEAQTTPPAAMEAQTT221del	NM_001206609.1	NP_001193538.1	WXS	Illumina HiSeq	Phase_I	Q14242	SELPL_HUMAN			2	837_896	-			205			12 X 10 AA tandem repeats.		A8K2Y0|B4DQC3|B7Z5C7|J3KMX6|Q12775|Q6GTW7|Q8N7J7	In_Frame_Del	DEL	ENST00000550948.1	37	c.661_720delGCACCAGCAGCCATGGAAGCACAGACCACTCCACCAGCAGCCATGGAGGCACAGACCACT	CCDS31895.2																																																																																				0.619	SELPLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403904.1	0			12:109017412
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	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
FMO2	2327	broad.mit.edu	37	1	171165803	171165803	+	Frame_Shift_Del	DEL	G	G	-	rs28369860	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:171165803delG	ENST00000209929.7	+	4	495	c.337delG	c.(337-339)gtgfs	p.V113fs	RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Frame_Shift_Del_p.V113fs			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	113					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTCCTTAGTGTGAGAAAATG	0.453													G|G|-|deletion	515	0.102835	0.2973	0.0476	5008	,	,		22626	0.002		0.0447	False		,,,				2504	0.0429					ENST00000209929.7		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	GRCh37	CD033950	FMO2	D	rs28369860	c.(337-339)gtgfs		flavin containing monooxygenase 2 (non-functional)				1055,3211		149,757,1227	106.0	106.0	106.0			2.2	1.0	1	dbSNP_125	115	398,7856		12,374,3741	no	frameshift	FMO2	NM_001460.2		161,1131,4968	A1A1,A1R,RR		4.8219,24.7304,11.6054			171165803	1453,11067	2093	4290	6383	SO:0001589	frameshift_variant	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171165803delG	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.337delG	1.37:g.171165803delG	ENSP00000209929:p.Val113fs	False	False		Somatic	1				FMO2_ENST00000441535.1_Frame_Shift_Del_p.V113fs|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000529935.1_3'UTR	p.V113fs			WXS	Illumina HiSeq	Phase_I	Q99518	FMO2_HUMAN			4	495	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		113					Q53XR0	Frame_Shift_Del	DEL	ENST00000209929.7	37	c.337delG	CCDS1293.1																																																																																				0.453	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	0	NM_001460		1:171165803
TP53	7157	broad.mit.edu	37	17	7579518	7579519	+	Frame_Shift_Ins	INS	-	-	TT	rs574255227	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:7579518_7579519insTT	ENST00000269305.4	-	4	357_358	c.168_169insAA	c.(166-171)gaagacfs	p.D57fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.D57fs	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	57	Interaction with HRMT1L2.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(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)	GGACCTGGGTCTTCAGTGAACC	0.599		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"""		18	Whole gene deletion(8)|Deletion - Frameshift(5)|Insertion - Frameshift(3)|Substitution - coding silent(1)|Deletion - In frame(1)	p.0?(8)|p.A63fs*66(3)|p.E51fs*59(1)|p.E56E(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.D57fs*86(1)	liver(4)|bone(4)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|upper_aerodigestive_tract(1)|stomach(1)|breast(1)|prostate(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(166-171)gaagacfs	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001589	frameshift_variant	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.chr17:7579518_7579519insTT	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.167_168dupAA	17.37:g.7579519_7579520dupTT	ENSP00000269305:p.Asp57fs	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	2				TP53_ENST00000455263.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.D57fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.D57fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.D57fs	p.D57fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	300_301	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	57			Interaction with HRMT1L2.		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	Frame_Shift_Ins	INS	ENST00000269305.4	37	c.168_169insAA	CCDS11118.1																																																																																				0.599	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7579518
FBXW10	10517	broad.mit.edu	37	17	18647848	18647849	+	Frame_Shift_Del	DEL	AG	AG	-	rs573539157	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	AG	AG	-	-	AG	AG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:18647848_18647849delAG	ENST00000395665.4	+	1	512_513	c.291_292delAG	c.(289-294)aaagagfs	p.E98fs	FBXW10_ENST00000308799.4_Frame_Shift_Del_p.E98fs|FBXW10_ENST00000301938.4_Frame_Shift_Del_p.E98fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.E98fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	98										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						TCAGCAAGAAAGAGGGGAAAGT	0.401														31	0.0061901	0.0219	0.0029	5008	,	,		22100	0.0		0.0	False		,,,				2504	0.0					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.(289-294)aaagagfs		F-box and WD repeat domain containing 10				100,4154		3,94,2030						3.3	0.1			108	4,8236		0,4,4116	no	frameshift	FBXW10	NM_031456.3		3,98,6146	A1A1,A1R,RR		0.0485,2.3507,0.8324				104,12390				SO:0001589	frameshift_variant	10517							g.chr17:18647848_18647849delAG	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.291_292delAG	17.37:g.18647850_18647851delAG	ENSP00000379025:p.Glu98fs	True	False		Somatic	2				FBXW10_ENST00000301938.4_Frame_Shift_Del_p.E98fs|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.E98fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.E98fs	p.E98fs			WXS	Illumina HiSeq	Phase_I	Q5XX13	FBW10_HUMAN			1	510_511	+			98					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Frame_Shift_Del	DEL	ENST00000395665.4	37	c.291_292delAG	CCDS11199.3																																																																																				0.401	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	0	NM_031456		17:18647848
SLC35G3	146861	broad.mit.edu	37	17	33520792	33520792	+	Frame_Shift_Del	DEL	T	T	-	rs537989829	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr17:33520792delT	ENST00000297307.5	-	1	620	c.535delA	c.(535-537)acafs	p.T179fs	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	179						integral component of membrane (GO:0016021)											TCCTGTAGTGTCCAGAGTCCA	0.592													T|T|-|deletion	41	0.0081869	0.0295	0.0029	5008	,	,		17742	0.0		0.0	False		,,,				2504	0.0					ENST00000297307.5		NA																	0					NA						c.(535-537)acafs		solute carrier family 35, member G3				138,4124		5,128,1998	153.0	160.0	157.0				0.3	17		158	1,8253		0,1,4126	no	frameshift	SLC35G3	NM_152462.2		5,129,6124	A1A1,A1R,RR		0.0121,3.2379,1.1106			33520792	139,12377	2200	4298	6498	SO:0001589	frameshift_variant	146861					integral to membrane		g.chr17:33520792delT	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.535delA	17.37:g.33520792delT	ENSP00000297307:p.Thr179fs	False	False		Somatic	1					p.T179fs	NM_152462.2	NP_689675.1	WXS	Illumina HiSeq	Phase_I	Q8N808	AMAC1_HUMAN			1	620	-			179					B9EGE9	Frame_Shift_Del	DEL	ENST00000297307.5	37	c.535delA	CCDS11293.1																																																																																				0.592	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	0	NM_152462		17:33520792
LAMA3	3909	broad.mit.edu	37	18	21407349	21407350	+	Frame_Shift_Ins	INS	-	-	TAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:21407349_21407350insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	ENST00000313654.9	+	23	2982_2983	c.2741_2742insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	c.(2740-2745)ctgcttfs	p.L915fs	LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.L915fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	915	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGACACTTCCTGCTTGATGGGG	0.55																																						ENST00000313654.9		NA																	0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(2740-2745)ctgcttfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21407349_21407350insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	Exception_encountered	18.37:g.21407349_21407350insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	ENSP00000324532:p.Leu915fs	False	False		Somatic	0				LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.L915fs	p.L915fs	NM_198129.1	NP_937762.1	WXS	Illumina HiSeq	Phase_I	Q16787	LAMA3_HUMAN			23	2982_2983	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		915			Domain IV 1 (domain IV B).		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Ins	INS	ENST00000313654.9	37	c.2741_2742insTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGGGTTAGG	CCDS42419.1																																																																																				0.550	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	0	NM_000227, NM_198129		18:21407349
SMAD4	4089	broad.mit.edu	37	18	48593481	48593482	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr18:48593481_48593482insT	ENST00000342988.3	+	10	1770_1771	c.1232_1233insT	c.(1231-1236)agttacfs	p.Y412fs	SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.Y316fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	412	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTTGTACAGAGTTACTACTTAG	0.426																																						ENST00000588745.1		NA																	38	Whole gene deletion(36)|Unknown(2)	p.0?(36)|p.?(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(943-948)agttacfs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48593481_48593482insT	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1234dupT	18.37:g.48593483_48593483dupT	ENSP00000341551:p.Tyr412fs	False	False		Somatic	2				SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.Y412fs|SMAD4_ENST00000342988.3_Frame_Shift_Ins_p.Y412fs	p.Y316fs			WXS	Illumina HiSeq	Phase_I	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	6	944_945	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	412			SAD.		A8K405	Frame_Shift_Ins	INS	ENST00000342988.3	37	c.944_945insT	CCDS11950.1																																																																																				0.426	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	0	NM_005359		18:48593481
FBN3	84467	broad.mit.edu	37	19	8159361	8159362	+	Frame_Shift_Ins	INS	-	-	T	rs7245429	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:8159361_8159362insT	ENST00000600128.1	-	47	6287_6288	c.5873_5874insA	c.(5872-5874)cctfs	p.P1958fs	FBN3_ENST00000601739.1_Frame_Shift_Ins_p.P1958fs|FBN3_ENST00000270509.2_Frame_Shift_Ins_p.P1958fs			Q75N90	FBN3_HUMAN	fibrillin 3	1958	EGF-like 31; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		P -> H (in dbSNP:rs7245429).			proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCTGGAAGCCAGGGGGACAGAT	0.589																																						ENST00000600128.1		NA																	0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(5872-5874)cctfs		fibrillin 3																																				SO:0001589	frameshift_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8159361_8159362insT		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.5873_5874insA	19.37:g.8159361_8159362insT	ENSP00000470498:p.Pro1958fs	True	False		Somatic	0				FBN3_ENST00000270509.2_Frame_Shift_Ins_p.P1958fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.P1958fs	p.P1958fs			WXS	Illumina HiSeq	Phase_I	Q75N90	FBN3_HUMAN			47	6287_6288	-			1958		P -> H (in dbSNP:rs7245429).	EGF-like 31; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	ENST00000600128.1	37	c.5873_5874insA	CCDS12196.1																																																																																				0.589	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	0	NM_032447		19:8159361
KCNA7	3743	broad.mit.edu	37	19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-	rs10535426|rs12975537|rs375428032	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TGCCCAGAGTGGAGGTGGTAGCT	0.631														725	0.144768	0.2988	0.1398	5008	,	,		15138	0.0486		0.0875	False		,,,				2504	0.0982				Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1324-1329)cctcca>cca		potassium voltage-gated channel, shaker-related subfamily, member 7				1096,3166		123,850,1158						-0.9	0.9		dbSNP_107	73	770,7484		38,694,3395	no	coding	KCNA7	NM_031886.2		161,1544,4553	A1A1,A1R,RR		9.3288,25.7156,14.9089				1866,10650				SO:0001651	inframe_deletion	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573363_49573365delGGA	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1326_1328delTCC	19.37:g.49573363_49573365delGGA	ENSP00000221444:p.Pro443del	False	False		Somatic	1					p.442_443PP>P	NM_031886.2	NP_114092.2	WXS	Illumina HiSeq	Phase_I	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1681_1683	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	442					A1KYX7|Q9BYS4	In_Frame_Del	DEL	ENST00000221444.1	37	c.1326_1328delTCC	CCDS12755.1																																																																																				0.631	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	0	NM_031886		19:49573363
LENG9	94059	broad.mit.edu	37	19	54973989	54973991	+	In_Frame_Del	DEL	CCT	CCT	-	rs140013148|rs36031488|rs201201812|rs115301361	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:54973989_54973991delCCT	ENST00000333834.4	-	1	903_905	c.785_787delAGG	c.(784-789)gaggca>gca	p.E262del		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	262							catalytic activity (GO:0003824)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGCTTCAGTGCCTCCTCAGTCAC	0.67														2078	0.414936	0.4138	0.4193	5008	,	,		15817	0.2321		0.5716	False		,,,				2504	0.4407					ENST00000333834.4		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11						c.(784-789)gaggca>gca		leukocyte receptor cluster (LRC) member 9				1758,2474		401,956,759						-8.3	0.0		dbSNP_126	46	4543,3643		1316,1911,866	no	coding	LENG9	NM_198988.1		1717,2867,1625	A1A1,A1R,RR		44.5028,41.5406,49.2591				6301,6117				SO:0001651	inframe_deletion	94059				RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding	g.chr19:54973989_54973991delCCT	AF211976		19q13.4	2014-05-06			ENSG00000182909	ENSG00000275183			16306	protein-coding gene	gene with protein product						10941842	Standard	NM_198988		Approved		uc010yez.2	Q96B70	OTTHUMG00000188273	ENST00000333834.4:c.785_787delAGG	19.37:g.54973992_54973994delCCT	ENSP00000331647:p.Glu262del	False	False		Somatic	2					p.E262del	NM_198988.1	NP_945339.2	WXS	Illumina HiSeq	Phase_I	Q96B70	LENG9_HUMAN		GBM - Glioblastoma multiforme(193;0.134)	1	903_905	-	Ovarian(34;0.19)		262					B2VAM3	In_Frame_Del	DEL	ENST00000333834.4	37	c.785_787delAGG	CCDS12895.2																																																																																				0.670	LENG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140806.3	0	NM_198988		19:54973989
ZBTB21	49854	broad.mit.edu	37	21	43411549	43411551	+	In_Frame_Del	DEL	CCT	CCT	-	rs377515144|rs140397626|rs199778808	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr21:43411549_43411551delCCT	ENST00000310826.5	-	3	2837_2839	c.2654_2656delAGG	c.(2653-2658)gaggct>gct	p.E885del	ZBTB21_ENST00000398511.3_In_Frame_Del_p.E885del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.E885del|ZBTB21_ENST00000465968.1_5'UTR|ZBTB21_ENST00000398505.3_In_Frame_Del_p.E684del	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	885					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.E885A(2)									TCTTCTTCAGCCTCCTCCACAGG	0.532														272	0.0543131	0.1044	0.0677	5008	,	,		17745	0.0		0.0785	False		,,,				2504	0.0082					ENST00000398505.3		NA																	2	Substitution - Missense(2)	p.E885A(2)	ovary(2)		NA						c.(2050-2055)gaggct>gct		zinc finger and BTB domain containing 21			,,	347,3917		10,327,1795					,,	5.0	0.4		dbSNP_134	65	605,7649		27,551,3549	no	coding,coding,coding	ZNF295	NM_020727.4,NM_001098403.1,NM_001098402.1	,,	37,878,5344	A1A1,A1R,RR		7.3298,8.1379,7.605	,,	,,		952,11566				SO:0001651	inframe_deletion	49854							g.chr21:43411549_43411551delCCT	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2654_2656delAGG	21.37:g.43411552_43411554delCCT	ENSP00000308759:p.Glu885del	False	False		Somatic	2				ZBTB21_ENST00000398511.3_In_Frame_Del_p.E885del|ZBTB21_ENST00000398499.1_In_Frame_Del_p.E885del|ZBTB21_ENST00000310826.5_In_Frame_Del_p.E885del|ZBTB21_ENST00000465968.1_5'UTR	p.E684del	NM_001098403.1	NP_001091873.1	WXS	Illumina HiSeq	Phase_I					4	2234_2236	-			NA					Q5R2W1|Q5R2W2|Q6P4R0	In_Frame_Del	DEL	ENST00000310826.5	37	c.2051_2053delAGG	CCDS13678.1																																																																																				0.532	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	0	NM_020727		21:43411549
KRTAP10-6	386674	broad.mit.edu	37	21	46012225	46012226	+	In_Frame_Ins	INS	-	-	CAGCAGCTGGGGGCA			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr21:46012225_46012226insCAGCAGCTGGGGGCA	ENST00000400368.1	-	1	160_161	c.140_141insTGCCCCCAGCTGCTG	c.(139-141)tgc>tgTGCCCCCAGCTGCTGc	p.47_47C>CAPSCC	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	47	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						GGGCCGGGGCGCAGCAGGGGGG	0.683																																						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.(139-141)tgc>tgTGCCCCCAGCTGCTGc		keratin associated protein 10-6																																				SO:0001652	inframe_insertion	386674					keratin filament		g.chr21:46012225_46012226insCAGCAGCTGGGGGCA	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.140_141insTGCCCCCAGCTGCTG	21.37:g.46012225_46012226insCAGCAGCTGGGGGCA	Exception_encountered	False	False		Somatic	0				TSPEAR_ENST00000323084.4_Intron	p.47_47C>CAPSCC	NM_198688.2	NP_941961.2	WXS	Illumina HiSeq	Phase_I	P60371	KR106_HUMAN			1	160_161	-			47			29 X 5 AA repeats of C-C-X(3).			In_Frame_Ins	INS	ENST00000400368.1	37	c.140_141insTGCCCCCAGCTGCTG	CCDS42959.1																																																																																				0.683	KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	0	NM_198688		21:46012225
ANKRD54	129138	broad.mit.edu	37	22	38243711	38243757	+	Intron	DEL	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	rs571768451|rs538871264|rs557855135|rs369207831|rs551625430		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	-	-	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	CCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	ENST00000609454.1	-	1	391				EIF3L_ENST00000381683.6_5'Flank|MIR659_ENST00000384963.1_RNA|EIF3L_ENST00000412331.2_5'Flank|EIF3L_ENST00000406934.1_5'Flank			Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54						nucleocytoplasmic transport (GO:0006913)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of intracellular signal transduction (GO:1902531)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	protein kinase regulator activity (GO:0019887)			lung(1)	1	Melanoma(58;0.045)					ggggaccctccctgaaccaaggaagagacTGTGACTCTTCCTTGGTTCAGGGAAGGTCCTGAACCAA	0.421																																						ENST00000384963.1		NA																	0					NA																																												SO:0001627	intron_variant	0							g.chr22:38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT	BC014641	CCDS13959.1	22q13.1	2013-01-10			ENSG00000100124	ENSG00000100124		"""Ankyrin repeat domain containing"""	25185	protein-coding gene	gene with protein product		613383				15461802	Standard	NM_138797		Approved	LIAR	uc003auc.3	Q6NXT1	OTTHUMG00000150663	ENST00000609454.1:c.26+1186ACCTTCCCTGAACCAAGGAAGAGTCACAGTCTCTTCCTTGGTTCAGG>-	22.37:g.38243711_38243757delCCTGAACCAAGGAAGAGACTGTGACTCTTCCTTGGTTCAGGGAAGGT		False	False		Somatic	1						NR_030396.1		WXS	Illumina HiSeq	Phase_I					0	24_70	-			NA					Q6ZSB1|Q9UGV1	RNA	DEL	ENST00000609454.1	37																																																																																						0.421	ANKRD54-013	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000472272.1	0	NM_138797		22:38243711
BMP15	9210	broad.mit.edu	37	X	50659210	50659211	+	In_Frame_Ins	INS	-	-	TCT	rs531409392|rs371124071|rs111889793		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:50659210_50659211insTCT	ENST00000252677.3	+	2	782_783	c.782_783insTCT	c.(781-786)tctctt>tcTCTtctt	p.263_264insL		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	263			L -> LL (no or minor deleterious effect detected). {ECO:0000269|PubMed:16464940, ECO:0000269|PubMed:16508750, ECO:0000269|PubMed:16645022, ECO:0000269|PubMed:19263482}.		female gamete generation (GO:0007292)|granulosa cell development (GO:0060016)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					GAAAGGGAATCTCTTCTCCGGA	0.465														696	0.184371	0.3918	0.0591	3775	,	,		13145	0.0605		0.003	False		,,,				2504	0.0746					ENST00000252677.3		NA																	0				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26						c.(781-786)tctctt>tcTCTtctt		bone morphogenetic protein 15				1671,2050		330,777,234,485,303						2.3	0.0		dbSNP_132	65	35,6448		0,30,5,2327,1764	no	coding	BMP15	NM_005448.2		330,807,239,2812,2067	A1A1,A1R,A1,RR,R		0.5399,44.9073,16.7189				1706,8498				SO:0001652	inframe_insertion	9210				female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity	g.chrX:50659210_50659211insTCT	AF082349	CCDS14334.1	Xp11.2	2013-02-06			ENSG00000130385	ENSG00000130385		"""Bone morphogenetic proteins"""	1068	protein-coding gene	gene with protein product		300247				9849956	Standard	NM_005448		Approved	GDF9B	uc011mnw.2	O95972	OTTHUMG00000021525	ENST00000252677.3:c.786_788dupTCT	X.37:g.50659214_50659216dupTCT	ENSP00000252677:p.Leu263_Leu263dup	False	False		Somatic	2					p.263_264insL	NM_005448.2	NP_005439.2	WXS	Illumina HiSeq	Phase_I	O95972	BMP15_HUMAN			2	782_783	+	Ovarian(276;0.236)		263		L -> LL (no or minor deleterious effect detected).			Q17RM6|Q5JST1|Q9UMS1	In_Frame_Ins	INS	ENST00000252677.3	37	c.782_783insTCT	CCDS14334.1																																																																																				0.465	BMP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056572.1	0	NM_005448		X:50659210
XIST	7503	broad.mit.edu	37	X	73071723	73071723	+	lincRNA	DEL	G	G	-			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:73071723delG	ENST00000429829.1	-	0	865					NR_001564.2				X inactive specific transcript (non-protein coding)																		CTCTGCCAAAGCGGTAGGTAC	0.458													G|G|-|deletion	1	0.000264901	0.0008	0.0	3775	,	,		13826	0.0		0.0	False		,,,				2504	0.0					ENST00000429829.1		NA																	0					NA															150.0	139.0	142.0					X																	73071723		876	1991	2867			0							g.chrX:73071723delG	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73071723delG		True	False		Somatic	1						NR_001564.2		WXS	Illumina HiSeq	Phase_I					0	865	-			NA						RNA	DEL	ENST00000429829.1	37																																																																																						0.458	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	0	NR_001564		X:73071723
PLA2R1	22925	broad.mit.edu	37	2	160843747	160843747	+	Frame_Shift_Del	DEL	C	C	-	rs375359802|rs200401364|rs386652078|rs115349802	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:160843747delC	ENST00000283243.7	-	12	2163	c.1957delG	c.(1957-1959)gcafs	p.A653fs	PLA2R1_ENST00000392771.1_Frame_Shift_Del_p.A653fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	653					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						TCATACTCTGCTTTTTCCTGA	0.512													C|C|-|deletion	181	0.0361422	0.1316	0.0101	5008	,	,		18994	0.0		0.0	False		,,,				2504	0.0					ENST00000283243.7		NA																PLA2R1/RBMS1(2)	0				central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						c.(1957-1959)gcafs		phospholipase A2 receptor 1, 180kDa			,,	376,3890		24,328,1781	112.0	102.0	105.0		,,	-0.3	0.0	2		109	28,8226		1,26,4100	no	frameshift,frameshift,frameshift	PLA2R1	NM_007366.4,NM_001195641.1,NM_001007267.2	,,	25,354,5881	A1A1,A1R,RR		0.3392,8.8139,3.2268	,,	,,	160843747	404,12116	2203	4300	6503	SO:0001589	frameshift_variant	0				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160843747delC	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1957delG	2.37:g.160843747delC	ENSP00000283243:p.Ala653fs	True	False		Somatic	1				PLA2R1_ENST00000392771.1_Frame_Shift_Del_p.A653fs	p.A653fs	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	WXS	Illumina HiSeq	Phase_I	Q13018	PLA2R_HUMAN			12	2163	-			653					B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Frame_Shift_Del	DEL	ENST00000283243.7	37	c.1957delG	CCDS33309.1																																																																																				0.512	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1	0			2:160843747
CCR5	1234	broad.mit.edu	37	3	46414944	46414975	+	Frame_Shift_Del	DEL	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	-	rs372782701|rs333|rs62625034|rs112590754|rs201797884|rs562091107|rs56345960|rs111718604|rs199827265|rs113869679	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	-	-	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	ACAGTCAGTATCAATTCTGGAAGAATTTCCAG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:46414944_46414975delACAGTCAGTATCAATTCTGGAAGAATTTCCAG	ENST00000292303.4	+	2	697_728	c.551_582delACAGTCAGTATCAATTCTGGAAGAATTTCCAG	c.(550-582)tacagtcagtatcaattctggaagaatttccagfs	p.YSQYQFWKNFQ184fs	CCR5_ENST00000445772.1_Frame_Shift_Del_p.YSQYQFWKNFQ184fs|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000343801.4_Frame_Shift_Del_p.YSQYQFWKNFQ184fs	NM_001100168.1	NP_001093638.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	184					calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|signaling (GO:0023052)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-C chemokine binding (GO:0019957)|C-C chemokine receptor activity (GO:0016493)|chemokine (C-C motif) ligand 5 binding (GO:0071791)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.Y187*(1)|p.K191N(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CATTTTCCATACAGTCAGTATCAATTCTGGAAGAATTTCCAGACATTAAAGA	0.453														146	0.0291534	0.003	0.0317	5008	,	,		26634	0.0		0.1103	False		,,,				2504	0.0092					ENST00000292303.4		NA																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	p.Y187*(1)|p.K191N(1)	lung(2)	central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(550-582)tacagtcagtatcaattctggaagaatttccagfs		chemokine (C-C motif) receptor 5 (gene/pseudogene)	Maraviroc(DB04835)		,	58,4208		0,58,2075					,	-10.8	0.0		dbSNP_36	152	697,7531		36,625,3453	no	frameshift,frameshift	CCR5	NM_001100168.1,NM_000579.3	,	36,683,5528	A1A1,A1R,RR		8.4711,1.3596,6.0429	,	,		755,11739				SO:0001589	frameshift_variant	1234				cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity	g.chr3:46414944_46414975delACAGTCAGTATCAATTCTGGAAGAATTTCCAG		CCDS2739.1	3p21	2012-08-08	2012-01-23		ENSG00000160791	ENSG00000160791		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1606	protein-coding gene	gene with protein product		601373	"""chemokine (C-C motif) receptor 5"""	CMKBR5		8639485	Standard	NM_001100168		Approved	CKR-5, CC-CKR-5, CKR5, CD195, IDDM22	uc003cpo.4	P51681	OTTHUMG00000133481	ENST00000292303.4:c.551_582delACAGTCAGTATCAATTCTGGAAGAATTTCCAG	3.37:g.46414944_46414975delACAGTCAGTATCAATTCTGGAAGAATTTCCAG	ENSP00000292303:p.Tyr184fs	False	False		Somatic	1				CCR5_ENST00000445772.1_Frame_Shift_Del_p.YSQYQFWKNFQ184fs|CCR5_ENST00000343801.4_Frame_Shift_Del_p.YSQYQFWKNFQ184fs|RP11-24F11.2_ENST00000451485.1_RNA	p.YSQYQFWKNFQ184fs	NM_001100168.1	NP_001093638.1	WXS	Illumina HiSeq	Phase_I	P51681	CCR5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	2	697_728	+			184					O14692|O14693|O14695|O14696|O14697|O14698|O14699|O14700|O14701|O14702|O14703|O14704|O14705|O14706|O14707|O14708|O15538|Q9UPA4	Frame_Shift_Del	DEL	ENST00000292303.4	37	c.551_582delACAGTCAGTATCAATTCTGGAAGAATTTCCAG	CCDS2739.1																																																																																				0.453	CCR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257377.2	0	NM_000579		3:46414944
PCDHB18	54660	broad.mit.edu	37	5	140615502	140615504	+	RNA	DEL	TCG	TCG	-	rs113324586|rs10574782|rs71576109	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:140615502_140615504delTCG	ENST00000526308.1	+	0	1565_1567					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TACACCCTGTTCGTCCGCGAGAA	0.611														1159	0.23143	0.4728	0.1527	5008	,	,		16693	0.0933		0.162	False		,,,				2504	0.1748					ENST00000526308.1		NA																	0				endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18																																														0							g.chr5:140615502_140615504delTCG	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615502_140615504delTCG		False	False		Somatic	1						NR_001281.1		WXS	Illumina HiSeq	Phase_I					0	1565_1567	+			NA					B3KTF8	RNA	DEL	ENST00000526308.1	37																																																																																						0.611	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1	0			5:140615502
MRPL18	29074	broad.mit.edu	37	6	160211646	160211648	+	In_Frame_Del	DEL	GTT	GTT	-	rs58504486|rs79336325	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	GTT	GTT	-	-	GTT	GTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:160211646_160211648delGTT	ENST00000367034.4	+	1	149_151	c.27_29delGTT	c.(25-30)gggttg>ggg	p.L10del	MRPL18_ENST00000480842.1_3'UTR|TCP1_ENST00000321394.7_5'Flank|TCP1_ENST00000546023.1_5'Flank|TCP1_ENST00000392168.2_5'Flank|TCP1_ENST00000420894.2_5'Flank|TCP1_ENST00000544255.1_5'Flank	NM_014161.3	NP_054880.2	Q9H0U6	RM18_HUMAN	mitochondrial ribosomal protein L18	10				Missing (in Ref. 2; AAF29043). {ECO:0000305}.	rRNA import into mitochondrion (GO:0035928)|translation (GO:0006412)	extracellular space (GO:0005615)|mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	5S rRNA binding (GO:0008097)|structural constituent of ribosome (GO:0003735)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)		GGTTTTGGGGGTTGTTCTCGGTT	0.571														3331	0.665136	0.4818	0.8285	5008	,	,		17145	0.5883		0.7575	False		,,,				2504	0.7812					ENST00000367034.4		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	11						c.(25-30)gggttg>ggg		mitochondrial ribosomal protein L18				2244,2020		587,1070,475						2.9	0.0		dbSNP_130	101	6166,2086		2314,1538,274	no	coding	MRPL18	NM_014161.3		2901,2608,749	A1A1,A1R,RR		25.2787,47.3734,32.806				8410,4106				SO:0001651	inframe_deletion	29074				rRNA transport|translation	mitochondrial ribosome	5S rRNA binding|structural constituent of ribosome	g.chr6:160211646_160211648delGTT	AF161556	CCDS5270.1	6q25.3	2012-09-13			ENSG00000112110	ENSG00000112110		"""Mitochondrial ribosomal proteins / large subunits"""	14477	protein-coding gene	gene with protein product		611831				11042152, 11551941	Standard	NM_014161		Approved	HSPC071	uc003qsw.4	Q9H0U6	OTTHUMG00000015942	ENST00000367034.4:c.27_29delGTT	6.37:g.160211649_160211651delGTT	ENSP00000356001:p.Leu10del	True	False		Somatic	2				MRPL18_ENST00000480842.1_3'UTR	p.L10del	NM_014161.3	NP_054880.2	WXS	Illumina HiSeq	Phase_I	Q9H0U6	RM18_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.79e-06)	1	149_151	+		Breast(66;0.000776)|Ovarian(120;0.0303)	10	Missing (in Ref. 2; AAF29043).				Q5TAP9|Q9NZW8	In_Frame_Del	DEL	ENST00000367034.4	37	c.27_29delGTT	CCDS5270.1																																																																																				0.571	MRPL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042925.1	0			6:160211646
DLL1	28514	broad.mit.edu	37	6	170592563	170592565	+	In_Frame_Del	DEL	TGT	TGT	-	rs573197356	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:170592563_170592565delTGT	ENST00000366756.3	-	9	2135_2137	c.1802_1804delACA	c.(1801-1806)gacatc>gtc	p.601_602DI>V		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	601					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.D601D(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGACTGAGATGTCCTTCTCACG	0.635														6	0.00119808	0.0	0.0029	5008	,	,		17344	0.0		0.004	False		,,,				2504	0.0					ENST00000366756.3		NA																	1	Substitution - coding silent(1)	p.D601D(1)	lung(1)	NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33						c.(1801-1806)gacatc>gtc		delta-like 1 (Drosophila)				0,4264		0,0,2132						5.4	0.0			193	10,8244		0,10,4117	no	coding	DLL1	NM_005618.3		0,10,6249	A1A1,A1R,RR		0.1212,0.0,0.0799				10,12508				SO:0001651	inframe_deletion	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170592563_170592565delTGT	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1802_1804delACA	6.37:g.170592563_170592565delTGT	ENSP00000355718:p.Asp601_Ile602delinsVal	False	False		Somatic	1					p.601_602DI>V	NM_005618.3	NP_005609.3	WXS	Illumina HiSeq	Phase_I	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	9	2135_2137	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	601					B2RAK7|B5M0B3|Q9NU41|Q9UJV2	In_Frame_Del	DEL	ENST00000366756.3	37	c.1802_1804delACA	CCDS5313.1																																																																																				0.635	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1	0			6:170592563
COBL	23242	broad.mit.edu	37	7	51098568	51098570	+	In_Frame_Del	DEL	TCT	TCT	-	rs201819395|rs398095077|rs58682836|rs142060269|rs75207469	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	TCT	TCT	-	-	TCT	TCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:51098568_51098570delTCT	ENST00000265136.7	-	9	1608_1610	c.1443_1445delAGA	c.(1441-1446)gaagac>gac	p.E481del	COBL_ENST00000395542.2_In_Frame_Del_p.E563del	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	481				Missing (in Ref. 5; AAH29275). {ECO:0000305}.	actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AATTAATAGGTCTTCTTCATCAT	0.409																																					NSCLC(189;2119 2138 12223 30818 34679)	ENST00000265136.7		NA																	0				NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(1441-1446)gaagac>gac		cordon-bleu WH2 repeat protein				1826,2438		396,1034,702						-2.4	0.0		dbSNP_131	158	2452,5802		364,1724,2039	no	coding	COBL	NM_015198.3		760,2758,2741	A1A1,A1R,RR		29.7068,42.8236,34.1748				4278,8240				SO:0001651	inframe_deletion	23242							g.chr7:51098568_51098570delTCT	AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.1443_1445delAGA	7.37:g.51098571_51098573delTCT	ENSP00000265136:p.Glu481del	False	False		Somatic	2				COBL_ENST00000395542.2_In_Frame_Del_p.E563del	p.E481del	NM_015198.3	NP_056013.2	WXS	Illumina HiSeq	Phase_I	O75128	COBL_HUMAN			9	1608_1610	-	Glioma(55;0.08)		481	Missing (in Ref. 5; AAH29275).				A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	In_Frame_Del	DEL	ENST00000265136.7	37	c.1443_1445delAGA	CCDS34637.1																																																																																				0.409	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000342682.1	0	NM_015198		7:51098568
UBAC1	10422	broad.mit.edu	37	9	138836942	138836944	+	In_Frame_Del	DEL	CCT	CCT	-	rs66767056|rs140946801	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CCT	CCT	-	-	CCT	CCT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:138836942_138836944delCCT	ENST00000371756.3	-	7	1023_1025	c.806_808delAGG	c.(805-810)gaggcc>gcc	p.E269del	UBAC1_ENST00000465873.1_5'UTR	NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	269				Missing (in Ref. 1; AAD51084). {ECO:0000305}.	protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.E269delE(1)|p.E269fs*6(1)		NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		TCATCTCTGGCCTCCTCATCGGT	0.621														851	0.169928	0.0197	0.2104	5008	,	,		17759	0.2183		0.2465	False		,,,				2504	0.2157				NSCLC(78;973 1398 27381 29552 42415)	ENST00000371756.3		NA																	2	Deletion - Frameshift(1)|Deletion - In frame(1)	p.E269delE(1)|p.E269fs*6(1)	stomach(1)|kidney(1)	NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25						c.(805-810)gaggcc>gcc		UBA domain containing 1				274,3990		12,250,1870						0.6	0.8		dbSNP_130	124	2296,5958		312,1672,2143	no	coding	UBAC1	NM_016172.2		324,1922,4013	A1A1,A1R,RR		27.8168,6.4259,20.5304				2570,9948				SO:0001651	inframe_deletion	10422					Golgi apparatus|plasma membrane	protein binding	g.chr9:138836942_138836944delCCT	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.806_808delAGG	9.37:g.138836945_138836947delCCT	ENSP00000360821:p.Glu269del	False	False		Somatic	2				UBAC1_ENST00000465873.1_5'UTR	p.E269del	NM_016172.2	NP_057256.2	WXS	Illumina HiSeq	Phase_I	Q9BSL1	UBAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)	7	1023_1025	-		Myeloproliferative disorder(178;0.0511)	269	Missing (in Ref. 1; AAD51084).				O75500|Q9UMW7	In_Frame_Del	DEL	ENST00000371756.3	37	c.806_808delAGG	CCDS35177.1																																																																																				0.621	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	0	NM_016172		9:138836942
C10orf113	387638	broad.mit.edu	37	10	21435341	21435344	+	Frame_Shift_Del	DEL	CACT	CACT	-	rs200339723|rs45546236|rs72102767	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	CACT	CACT	-	-	CACT	CACT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:21435341_21435344delCACT	ENST00000534331.1	-	1	144_147	c.94_97delAGTG	c.(94-99)agtgttfs	p.SV32fs	C10orf113_ENST00000529198.1_Frame_Shift_Del_p.SV32fs|NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000377118.4_Frame_Shift_Del_p.SV22fs	NM_001010896.2	NP_001010896.2	Q5VZT2	CJ113_HUMAN	chromosome 10 open reading frame 113	32										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						AAAGCACAAACACTCTCTCTCATA	0.397														1260	0.251597	0.2315	0.1671	5008	,	,		20280	0.3571		0.1948	False		,,,				2504	0.2883					ENST00000529198.1		NA																	0				endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						c.(94-99)agtgttfs		chromosome 10 open reading frame 113			,,,	902,3362		95,712,1325					,,,	-1.1	0.0		dbSNP_130	149	1513,6741		144,1225,2758	no	intron,frameshift,intron,frameshift	NEBL,C10orf113	NM_213569.2,NM_001177483.1,NM_001173484.1,NM_001010896.2	,,,	239,1937,4083	A1A1,A1R,RR		18.3305,21.1538,19.2922	,,,	,,,		2415,10103				SO:0001589	frameshift_variant	387638							g.chr10:21435341_21435344delCACT		CCDS31162.1, CCDS31162.2, CCDS53496.1	10p12.31	2012-06-12			ENSG00000204683	ENSG00000204683			31447	protein-coding gene	gene with protein product							Standard	NM_001010896		Approved	bA165O3.1	uc001iqm.3	Q5VZT2	OTTHUMG00000017786	ENST00000534331.1:c.94_97delAGTG	10.37:g.21435341_21435344delCACT	ENSP00000433646:p.Ser32fs	True	False		Somatic	1				NEBL_ENST00000417816.2_Intron|C10orf113_ENST00000534331.1_Frame_Shift_Del_p.SV32fs|C10orf113_ENST00000377118.4_Frame_Shift_Del_p.SV22fs	p.SV32fs	NM_001177483.1	NP_001170954.1	WXS	Illumina HiSeq	Phase_I	Q5VZT2	CJ113_HUMAN			1	144_147	-			32					B9EIM9|E9PRX7	Frame_Shift_Del	DEL	ENST00000534331.1	37	c.94_97delAGTG	CCDS31162.2																																																																																				0.397	C10orf113-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047108.3	0	NM_001010896		10:21435341
SORCS3	22986	broad.mit.edu	37	10	106918737	106918737	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:106918737C>A	ENST00000369701.3	+	11	1944	c.1717C>A	c.(1717-1719)Ctt>Att	p.L573I		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	573					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGCCCCAGGACTTGTGGTGGC	0.433																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(1717-1719)Ctt>Att		sortilin-related VPS10 domain containing receptor 3							87.0	79.0	82.0					10																	106918737		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106918737C>A	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.1717C>A	10.37:g.106918737C>A	ENSP00000358715:p.Leu573Ile	False	False		Somatic	0					p.L573I	NM_014978.1	NP_055793.1	WXS	Illumina HiSeq	Phase_I	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	11	1944	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	573					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.1717C>A	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.415625	0.25552	.	.	ENSG00000156395	ENST00000369701;ENST00000393176	T;T	0.57273	0.41;0.41	5.77	3.92	0.45320	VPS10 (1);	0.125004	0.56097	D	0.000037	T	0.30479	0.0766	N	0.10664	0.02	0.45216	D	0.998226	B	0.16166	0.016	B	0.18263	0.021	T	0.05402	-1.0887	9	.	.	.	.	12.4007	0.55412	0.0:0.8641:0.0:0.1359	.	573	Q9UPU3	SORC3_HUMAN	I	573;18	ENSP00000358715:L573I;ENSP00000376876:L18I	.	L	+	1	0	SORCS3	106908727	0.820000	0.29190	0.995000	0.50966	0.999000	0.98932	1.484000	0.35508	0.904000	0.36572	0.650000	0.86243	CTT		0.433	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	0	NM_014978		10:106918737
PAPPA2	60676	broad.mit.edu	37	1	176759114	176759114	+	Splice_Site	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:176759114G>C	ENST00000367662.3	+	18	6048		c.e18+1			NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2						bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACGTGAAAAGGTAAGGAACAT	0.418																																						ENST00000367662.3		NA																	0				NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						c.e18+1		pappalysin 2							153.0	146.0	148.0					1																	176759114		1932	4136	6068	SO:0001630	splice_region_variant	60676				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:176759114G>C	BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4884+1G>C	1.37:g.176759114G>C		False	False		Somatic	0						NM_020318.2	NP_064714.2	WXS	Illumina HiSeq	Phase_I	Q9BXP8	PAPP2_HUMAN			18	6048	+			NA					A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Splice_Site	SNP	ENST00000367662.3	37		CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156713	0.57259	.	.	ENSG00000116183	ENST00000367662	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6377	0.85063	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAPPA2	175025737	1.000000	0.71417	1.000000	0.80357	0.568000	0.35870	6.533000	0.73829	2.651000	0.90000	0.650000	0.86243	.		0.418	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1	0		Intron	1:176759114
SEZ6L2	26470	broad.mit.edu	37	16	29908310	29908310	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:29908310G>T	ENST00000308713.5	-	3	871	c.344C>A	c.(343-345)gCa>gAa	p.A115E	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E|SEZ6L2_ENST00000350527.3_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	115	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGGGGCCTGCCCCCCTGAC	0.736																																						ENST00000308713.5		NA																	0				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(343-345)gCa>gAa		seizure related 6 homolog (mouse)-like 2							7.0	10.0	9.0					16																	29908310		2183	4256	6439	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29908310G>T	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.344C>A	16.37:g.29908310G>T	ENSP00000312550:p.Ala115Glu	True	False		Somatic	0				SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.A71E|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.A115E	p.A115E	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	WXS	Illumina HiSeq	Phase_I	Q6UXD5	SE6L2_HUMAN			3	871	-			115			Pro-rich.		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.344C>A	CCDS10659.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.546087	0.65198	.	.	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.44083	0.93;0.93;0.93	5.36	5.36	0.76844	.	0.123614	0.36374	N	0.002633	T	0.26231	0.0640	N	0.19112	0.55	0.31331	N	0.684786	B;B;B;B	0.33238	0.403;0.281;0.281;0.281	B;B;B;B	0.30855	0.121;0.057;0.104;0.057	T	0.24154	-1.0168	9	.	.	.	.	11.3559	0.49615	0.0844:0.0:0.9156:0.0	.	71;115;115;115	F5H293;B7Z5L4;Q9BW82;Q6UXD5	.;.;.;SE6L2_HUMAN	E	115;115;71	ENSP00000312550:A115E;ENSP00000319215:A115E;ENSP00000439412:A71E	.	A	-	2	0	SEZ6L2	29815811	0.445000	0.25657	1.000000	0.80357	0.965000	0.64279	3.770000	0.55310	2.523000	0.85059	0.561000	0.74099	GCA		0.736	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	0	NM_012410		16:29908310
CYP4F22	126410	broad.mit.edu	37	19	15651359	15651359	+	Missense_Mutation	SNP	G	G	A	rs200005567		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:15651359G>A	ENST00000269703.3	+	8	969	c.770G>A	c.(769-771)cGc>cAc	p.R257H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22	257						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						ATTTACTACCGCTCGGCGGAT	0.582																																						ENST00000269703.3		NA																	0				endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						c.(769-771)cGc>cAc		cytochrome P450, family 4, subfamily F, polypeptide 22		G	HIS/ARG	0,4406		0,0,2203	75.0	70.0	72.0		770	-6.8	0.0	19		72	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP4F22	NM_173483.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	257/532	15651359	1,13005	2203	4300	6503	SO:0001583	missense	126410					endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	g.chr19:15651359G>A		CCDS12331.1	19p13.12	2013-11-11			ENSG00000171954	ENSG00000171954		"""Cytochrome P450s"""	26820	protein-coding gene	gene with protein product		611495				16436457	Standard	NM_173483		Approved	FLJ39501	uc002nbh.4	Q6NT55	OTTHUMG00000182451	ENST00000269703.3:c.770G>A	19.37:g.15651359G>A	ENSP00000269703:p.Arg257His	False	False		Somatic	0				CYP4F22_ENST00000601005.2_Missense_Mutation_p.R257H	p.R257H	NM_173483.3	NP_775754.2	WXS	Illumina HiSeq	Phase_I	Q6NT55	CP4FN_HUMAN			8	969	+			NA					Q8N8H4	Missense_Mutation	SNP	ENST00000269703.3	37	c.770G>A	CCDS12331.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274344	0.23307	0.0	1.16E-4	ENSG00000171954	ENST00000269703	T	0.68765	-0.35	5.39	-6.85	0.01681	.	0.385586	0.27406	N	0.019502	T	0.55609	0.1931	L	0.45228	1.405	0.22511	N	0.999039	B	0.09022	0.002	B	0.08055	0.003	T	0.11060	-1.0603	10	0.62326	D	0.03	.	19.8166	0.96571	0.0:0.0:0.1486:0.8514	.	257	Q6NT55	CP4FN_HUMAN	H	257	ENSP00000269703:R257H	ENSP00000269703:R257H	R	+	2	0	CYP4F22	15512359	0.063000	0.20901	0.001000	0.08648	0.004000	0.04260	0.258000	0.18387	-1.590000	0.01623	0.453000	0.30009	CGC		0.582	CYP4F22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461338.2	0	NM_173483		19:15651359
MROH7	374977	broad.mit.edu	37	1	55148429	55148429	+	Missense_Mutation	SNP	G	G	A	rs367669775		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:55148429G>A	ENST00000421030.2	+	14	2767	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	MROH7_ENST00000454855.2_Missense_Mutation_p.V346I|MROH7_ENST00000339553.5_Missense_Mutation_p.V828I|MROH7_ENST00000395690.2_Missense_Mutation_p.V828I|MROH7_ENST00000545244.1_Missense_Mutation_p.V396I|MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.V828I|MROH7_ENST00000409996.1_Missense_Mutation_p.V396I	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	828						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGAGAAGCCCGTCACCAAGGA	0.622																																						ENST00000414150.2		NA																	0					NA						c.(2482-2484)Gtc>Atc				A	ILE/VAL	0,4046		0,0,2023	54.0	56.0	55.0		2482	2.3	0.8	1		55	1,8369		0,1,4184	no	missense	HEATR8	NM_001039464.2	29	0,1,6207	AA,AG,GG		0.0119,0.0,0.0081	benign	828/1324	55148429	1,12415	2023	4185	6208	SO:0001583	missense	0							g.chr1:55148429G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2482G>A	1.37:g.55148429G>A	ENSP00000396622:p.Val828Ile	True	False		Somatic	0				MROH7_ENST00000454855.2_Missense_Mutation_p.V346I|MROH7_ENST00000409996.1_Missense_Mutation_p.V396I|MROH7_ENST00000545244.1_Missense_Mutation_p.V396I|MROH7_ENST00000339553.5_Missense_Mutation_p.V828I|MROH7_ENST00000421030.2_Missense_Mutation_p.V828I|MROH7_ENST00000395690.2_Missense_Mutation_p.V828I	p.V828I			WXS	Illumina HiSeq	Phase_I					14	2760	+			NA					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2482G>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	g	7.100	0.573946	0.13623	0.0	1.19E-4	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.03982	4.79;3.74;4.24;4.54;4.42;4.24	4.25	2.34	0.29019	Armadillo-type fold (1);	0.753201	0.11320	N	0.576131	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	0.999993	B;B;B;B	0.33494	0.37;0.414;0.032;0.37	B;B;B;B	0.21708	0.036;0.023;0.008;0.033	T	0.45483	-0.9258	10	0.25106	T	0.35	-8.5791	5.4036	0.16308	0.1049:0.0:0.6974:0.1977	.	828;828;396;828	F8W8P2;Q68CQ1;F5H7R4;Q68CQ1-9	.;HEAT8_HUMAN;.;.	I	828;396;857;828;396;346;828	ENSP00000396622:V828I;ENSP00000442333:V396I;ENSP00000343211:V828I;ENSP00000387048:V396I;ENSP00000401130:V346I;ENSP00000379044:V828I	ENSP00000343211:V828I	V	+	1	0	HEATR8	54921017	0.196000	0.23350	0.753000	0.31225	0.254000	0.26022	0.258000	0.18387	0.529000	0.28599	-0.355000	0.07637	GTC		0.622	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	0	NM_198547		1:55148429
NUAK1	9891	broad.mit.edu	37	12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653					cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|regulation of cell adhesion (GO:0030155)|regulation of cell proliferation (GO:0042127)|regulation of cellular senescence (GO:2000772)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632																																						ENST00000261402.2		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						c.(1957-1959)gCg>gTg		NUAK family, SNF1-like kinase, 1							87.0	91.0	89.0					12																	106460608		2203	4300	6503	SO:0001583	missense	9891						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr12:106460608G>A	AB011109	CCDS31892.1	12q23.3	2005-08-09				ENSG00000074590			14311	protein-coding gene	gene with protein product	"""AMP-activated protein kinase family member 5"""	608130				12409306, 13679856	Standard	NM_014840		Approved	ARK5, KIAA0537, NuaK1	uc001tlj.1	O60285	OTTHUMG00000169763	ENST00000261402.2:c.1958C>T	12.37:g.106460608G>A	ENSP00000261402:p.Ala653Val	True	False		Somatic	0					p.A653V	NM_014840.2	NP_055655.1	WXS	Illumina HiSeq	Phase_I	O60285	NUAK1_HUMAN			7	3337	-			653					A7MD39|Q96KA8	Missense_Mutation	SNP	ENST00000261402.2	37	c.1958C>T	CCDS31892.1	.	.	.	.	.	.	.	.	.	.	G	33	5.203470	0.95033	.	.	ENSG00000074590	ENST00000261402	D	0.82984	-1.67	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000012	D	0.90916	0.7145	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.91082	0.4900	10	0.87932	D	0	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	653	O60285	NUAK1_HUMAN	V	653	ENSP00000261402:A653V	ENSP00000261402:A653V	A	-	2	0	NUAK1	104984738	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	9.476000	0.97823	2.755000	0.94549	0.655000	0.94253	GCG		0.632	NUAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405767.2	0	NM_014840		12:106460608
PLEKHH1	57475	broad.mit.edu	37	14	68044761	68044761	+	Missense_Mutation	SNP	G	G	A	rs201045091		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:68044761G>A	ENST00000329153.5	+	19	2728	c.2596G>A	c.(2596-2598)Gtg>Atg	p.V866M	PLEKHH1_ENST00000417684.2_5'Flank	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	866	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.					cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		CTTCATCAACGTGCCGGTGGA	0.597													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19378	0.0		0.0	False		,,,				2504	0.0					ENST00000329153.5		NA																	0				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19						c.(2596-2598)Gtg>Atg		pleckstrin homology domain containing, family H (with MyTH4 domain) member 1							77.0	79.0	78.0					14																	68044761		2167	4273	6440	SO:0001583	missense	57475					cytoskeleton	binding	g.chr14:68044761G>A	AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.2596G>A	14.37:g.68044761G>A	ENSP00000330278:p.Val866Met	False	False		Somatic	0					p.V866M	NM_020715.2	NP_065766.1	WXS	Illumina HiSeq	Phase_I	Q9ULM0	PKHH1_HUMAN		all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)	19	2728	+			866			MyTH4.		A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	ENST00000329153.5	37	c.2596G>A	CCDS45128.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	28.8	4.949389	0.92660	.	.	ENSG00000054690	ENST00000329153	T	0.73789	-0.78	5.14	5.14	0.70334	MyTH4 domain (2);	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.75264	2.295	0.80722	D	1	D	0.69078	0.997	D	0.66351	0.943	D	0.86972	0.2098	10	0.72032	D	0.01	.	18.7908	0.91973	0.0:0.0:1.0:0.0	.	866	Q9ULM0	PKHH1_HUMAN	M	866	ENSP00000330278:V866M	ENSP00000330278:V866M	V	+	1	0	PLEKHH1	67114514	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.257000	0.95545	2.665000	0.90641	0.655000	0.94253	GTG		0.597	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412730.3	0	XM_031054		14:68044761
ANKHD1	54882	broad.mit.edu	37	5	139918629	139918629	+	Silent	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:139918629A>G	ENST00000360839.2	+	33	7684	c.7530A>G	c.(7528-7530)aaA>aaG	p.K2510K	ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K|ANKHD1_ENST00000297183.6_Silent_p.K2510K	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2510						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGATAAAAGTTATCCAAA	0.403																																						ENST00000297183.6		NA																	0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(7528-7530)aaA>aaG		ankyrin repeat and KH domain containing 1							83.0	81.0	81.0					5																	139918629		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139918629A>G	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.7530A>G	5.37:g.139918629A>G		True	False		Somatic	0				ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.K2510K|ANKHD1_ENST00000544120.1_Silent_p.K834K|ANKHD1_ENST00000360839.2_Silent_p.K2510K	p.K2510K	NM_020690.5	NP_065741.3	WXS	Illumina HiSeq	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		33	7654	+			NA					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.7530A>G	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	4.539|4.539	0.100145|0.100145	0.08731|0.08731	.|.	.|.	ENSG00000131503|ENSG00000131503	ENST00000421706|ENST00000435794;ENST00000432301	T|.	0.59638|.	0.25|.	5.87|5.87	4.73|4.73	0.59995|0.59995	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.59445|0.59445	0.2194|0.2194	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.57619|0.57619	-0.7780|-0.7780	7|4	0.87932|.	D|.	0|.	.|.	8.6414|8.6414	0.33978|0.33978	0.8578:0.0:0.1422:0.0|0.8578:0.0:0.1422:0.0	.|.	.|.	.|.	.|.	R|G	168|992;902	ENSP00000405345:K168R|.	ENSP00000405345:K168R|.	K|S	+|+	2|1	0|0	ANKHD1|ANKHD1	139898813|139898813	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.347000|2.347000	0.44036|0.44036	2.244000|2.244000	0.73946|0.73946	0.533000|0.533000	0.62120|0.62120	AAG|AGT		0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	0	NM_017747		5:139918629
PLEKHA3	65977	broad.mit.edu	37	2	179368599	179368599	+	Silent	SNP	A	A	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179368599A>T	ENST00000234453.5	+	8	1290	c.888A>T	c.(886-888)ccA>ccT	p.P296P		NM_019091.3	NP_061964.3	Q9HB20	PKHA3_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3	296						Golgi apparatus (GO:0005794)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			ATACTCTTCCATCCTTCTCTT	0.363																																						ENST00000234453.5		NA																	0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11						c.(886-888)ccA>ccT		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3							72.0	73.0	72.0					2																	179368599		2202	4300	6502	SO:0001819	synonymous_variant	65977					cytoplasm|membrane		g.chr2:179368599A>T	AF286162	CCDS33336.1	2q31.2	2013-01-10	2002-01-14		ENSG00000116095	ENSG00000116095		"""Pleckstrin homology (PH) domain containing"""	14338	protein-coding gene	gene with protein product	"""four-phosphate-adaptor protein 1"""	607774	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3"""			11001876, 15107860	Standard	NM_019091		Approved	FAPP1	uc002umn.3	Q9HB20	OTTHUMG00000154446	ENST00000234453.5:c.888A>T	2.37:g.179368599A>T		False	False		Somatic	0					p.P296P	NM_019091.3	NP_061964.3	WXS	Illumina HiSeq	Phase_I	Q9HB20	PKHA3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)		8	1290	+			NA					Q4ZG69|Q86TQ1|Q9NXT3	Silent	SNP	ENST00000234453.5	37	c.888A>T	CCDS33336.1																																																																																				0.363	PLEKHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335241.2	0	NM_019091		2:179368599
SLC12A6	9990	broad.mit.edu	37	15	34546711	34546711	+	Missense_Mutation	SNP	C	C	T	rs369334993		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr15:34546711C>T	ENST00000354181.3	-	9	1448	c.956G>A	c.(955-957)cGt>cAt	p.R319H	SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	319					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCCGTAGACACGCATGTTATT	0.453																																						ENST00000354181.3		NA																	0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(955-957)cGt>cAt		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)	C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4401	2.1+/-5.4	0,1,2200	142.0	124.0	130.0		779,779,929,911,803,956	5.1	1.0	15		130	0,8596		0,0,4298	no	missense,missense,missense,missense,missense,missense	SLC12A6	NM_001042494.1,NM_001042495.1,NM_001042496.1,NM_001042497.1,NM_005135.2,NM_133647.1	29,29,29,29,29,29	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	260/1092,260/1092,310/1142,304/1136,268/1100,319/1151	34546711	1,12997	2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34546711C>T	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.956G>A	15.37:g.34546711C>T	ENSP00000346112:p.Arg319His	False	False		Somatic	0				SLC12A6_ENST00000397702.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R260H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R310H|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R304H|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R268H|SLC12A6_ENST00000558667.1_Missense_Mutation_p.R319H|SLC12A6_ENST00000451844.2_Missense_Mutation_p.R131H|SLC12A6_ENST00000560164.1_Missense_Mutation_p.R131H	p.R319H			WXS	Illumina HiSeq	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	9	1448	-		all_lung(180;2.78e-08)	319					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.956G>A	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421433	0.96111	2.27E-4	0.0	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.86366	-2.1;-2.11;-2.11;-2.11;-1.59	5.1	5.1	0.69264	Amino acid permease domain (1);	0.063721	0.64402	N	0.000006	D	0.95601	0.8570	H	0.95402	3.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;0.993;0.999;1.0	D	0.96738	0.9544	10	0.87932	D	0	.	17.4519	0.87594	0.0:1.0:0.0:0.0	.	304;319;268;131	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	H	268;304;310;260;260;131	ENSP00000290209:R268H;ENSP00000380819:R304H;ENSP00000380814:R260H;ENSP00000387725:R260H;ENSP00000390199:R131H	ENSP00000290209:R268H	R	-	2	0	SLC12A6	32334003	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.634000	0.89283	0.655000	0.94253	CGT		0.453	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	0	NM_005135		15:34546711
KHDRBS3	10656	broad.mit.edu	37	8	136594144	136594144	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:136594144G>A	ENST00000355849.5	+	6	1045	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	212	Interaction with SIAH1.				regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			GTTACAGCCCGGCCAGTTGGA	0.502																																						ENST00000355849.5		NA																	0				NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26						c.(634-636)cGg>cAg		KH domain containing, RNA binding, signal transduction associated 3							87.0	88.0	88.0					8																	136594144		2203	4300	6503	SO:0001583	missense	10656				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr8:136594144G>A	AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164	ENST00000355849.5:c.635G>A	8.37:g.136594144G>A	ENSP00000348108:p.Arg212Gln	True	False		Somatic	0				KHDRBS3_ENST00000520981.1_Intron	p.R212Q	NM_006558.1	NP_006549.1	WXS	Illumina HiSeq	Phase_I	O75525	KHDR3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.247)		6	1045	+	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		212			Interaction with SIAH1.		Q6NUL8|Q9UPA8	Missense_Mutation	SNP	ENST00000355849.5	37	c.635G>A	CCDS6374.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.942837|2.942837	0.53079|0.53079	.|.	.|.	ENSG00000131773|ENSG00000131773	ENST00000524282|ENST00000355849;ENST00000524199	.|T	.|0.45668	.|0.89	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	.|0.364746	.|0.32372	.|N	.|0.006188	T|T	0.34629|0.34629	0.0904|0.0904	L|L	0.40543|0.40543	1.245|1.245	0.80722|0.80722	D|D	1|1	.|B;P	.|0.44816	.|0.431;0.844	.|B;B	.|0.37833	.|0.099;0.259	T|T	0.12400|0.12400	-1.0549|-1.0549	5|10	.|0.46703	.|T	.|0.11	-17.1845|-17.1845	14.227|14.227	0.65866|0.65866	0.0:0.2458:0.7542:0.0|0.0:0.2458:0.7542:0.0	.|.	.|212;212	.|O75525-2;O75525	.|.;KHDR3_HUMAN	S|Q	127|212;184	.|ENSP00000348108:R212Q	.|ENSP00000348108:R212Q	G|R	+|+	1|2	0|0	KHDRBS3|KHDRBS3	136663326|136663326	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.822000|0.822000	0.46500|0.46500	4.526000|4.526000	0.60566|0.60566	2.843000|2.843000	0.97960|0.97960	0.585000|0.585000	0.79938|0.79938	GGC|CGG		0.502	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377529.1	0			8:136594144
CEACAM3	1084	broad.mit.edu	37	19	42312866	42312866	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42312866G>A	ENST00000357396.3	+	3	681	c.440G>A	c.(439-441)gGc>gAc	p.G147D	CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	147						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATGCCCCAGGCCTTCCTGTG	0.612																																						ENST00000357396.3		NA																	0				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						c.(439-441)gGc>gAc		carcinoembryonic antigen-related cell adhesion molecule 3							102.0	110.0	107.0					19																	42312866		2203	4300	6503	SO:0001583	missense	1084					integral to membrane		g.chr19:42312866G>A	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.440G>A	19.37:g.42312866G>A	ENSP00000349971:p.Gly147Asp	False	False		Somatic	0				CEACAM3_ENST00000221999.4_Missense_Mutation_p.G147D|CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000344550.4_Missense_Mutation_p.G147D	p.G147D	NM_001815.2	NP_001806.2	WXS	Illumina HiSeq	Phase_I	P40198	CEAM3_HUMAN			3	681	+			147					G5E978|Q3KPH9	Missense_Mutation	SNP	ENST00000357396.3	37	c.440G>A	CCDS12586.2	.	.	.	.	.	.	.	.	.	.	G	9.004	0.980901	0.18812	.	.	ENSG00000170956	ENST00000357396;ENST00000221999;ENST00000344550	T;T;T	0.01272	5.12;5.07;5.07	2.21	-1.96	0.07525	.	.	.	.	.	T	0.03348	0.0097	M	0.62088	1.915	0.09310	N	1	D;D	0.69078	0.995;0.997	D;D	0.68943	0.961;0.941	T	0.40403	-0.9565	9	0.17369	T	0.5	.	1.0058	0.01487	0.1539:0.2257:0.3909:0.2295	.	147;147	G5E978;P40198	.;CEAM3_HUMAN	D	147	ENSP00000349971:G147D;ENSP00000221999:G147D;ENSP00000341725:G147D	ENSP00000221999:G147D	G	+	2	0	CEACAM3	47004706	0.002000	0.14202	0.001000	0.08648	0.015000	0.08874	0.766000	0.26560	-0.299000	0.08909	0.514000	0.50259	GGC		0.612	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	0	NM_001815		19:42312866
TTN	7273	broad.mit.edu	37	2	179537144	179537144	+	Silent	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr2:179537144G>A	ENST00000591111.1	-	150	34022	c.33798C>T	c.(33796-33798)ccC>ccT	p.P11266P	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.P10339P|TTN_ENST00000589042.1_Silent_p.P11640P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	11266	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTAGCTGGGGGAACAGCTT	0.338																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(34918-34920)ccC>ccT		titin							170.0	174.0	172.0					2																	179537144		1827	4074	5901	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179537144G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.33798C>T	2.37:g.179537144G>A		True	False		Somatic	0				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P10339P|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.P11266P|TTN-AS1_ENST00000592630.1_RNA	p.P11640P	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		154	35144	-			11476			Glu-rich.|Pro-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.34920C>T																																																																																					0.338	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179537144
FAT1	2195	broad.mit.edu	37	4	187542860	187542860	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:187542860C>T	ENST00000441802.2	-	10	5089	c.4880G>A	c.(4879-4881)cGa>cAa	p.R1627Q		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1627	Cadherin 14. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGGTTACTTCGATCTAATTC	0.368										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2		NA																	0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4879-4881)cGa>cAa		FAT atypical cadherin 1							36.0	35.0	35.0					4																	187542860		1856	4087	5943	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187542860C>T	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4880G>A	4.37:g.187542860C>T	ENSP00000406229:p.Arg1627Gln	False	False	HNSCC(5;0.00058)	Somatic	0					p.R1627Q	NM_005245.3	NP_005236.2	WXS	Illumina HiSeq	Phase_I	Q14517	FAT1_HUMAN			10	5089	-			1627			Cadherin 14.			Missense_Mutation	SNP	ENST00000441802.2	37	c.4880G>A	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	11.52	1.664646	0.29604	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01725	4.67	5.09	4.25	0.50352	Cadherin (4);Cadherin-like (1);	0.062767	0.64402	D	0.000004	T	0.02929	0.0087	M	0.76433	2.335	0.51482	D	0.999925	B	0.29590	0.25	B	0.23018	0.043	T	0.47341	-0.9125	10	0.27785	T	0.31	.	10.879	0.46927	0.0:0.8009:0.0:0.1991	.	1627	Q14517	FAT1_HUMAN	Q	1627;1629	ENSP00000406229:R1627Q	ENSP00000260147:R1629Q	R	-	2	0	FAT1	187779854	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	1.960000	0.40422	1.514000	0.48869	0.650000	0.86243	CGA		0.368	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	0	NM_005245		4:187542860
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Tgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398285C>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.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12C|KRAS_ENST00000256078.4_Missense_Mutation_p.G12C|KRAS_ENST00000556131.1_Missense_Mutation_p.G12C	p.G12C	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	225	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.34G>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	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	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398285
PIK3CG	5294	broad.mit.edu	37	7	106508944	106508944	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:106508944C>T	ENST00000359195.3	+	2	1248	c.938C>T	c.(937-939)cCg>cTg	p.P313L	PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L|PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	313					adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCTCCAGACCCGGCCCTAGAC	0.587																																						ENST00000359195.3		NA																	0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(937-939)cCg>cTg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							56.0	53.0	54.0					7																	106508944		2203	4300	6503	SO:0001583	missense	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106508944C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.938C>T	7.37:g.106508944C>T	ENSP00000352121:p.Pro313Leu	True	False		Somatic	0				PIK3CG_ENST00000496166.1_Missense_Mutation_p.P313L|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P313L	p.P313L	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	WXS	Illumina HiSeq	Phase_I	P48736	PK3CG_HUMAN			2	1248	+			313					A4D0Q6|Q8IV23|Q9BZC8	Missense_Mutation	SNP	ENST00000359195.3	37	c.938C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	4.728	0.135454	0.09032	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	T;T;T	0.68181	-0.31;-0.31;-0.31	5.75	5.75	0.90469	.	0.047482	0.85682	D	0.000000	T	0.62575	0.2439	L	0.48362	1.52	0.80722	D	1	B	0.13594	0.008	B	0.06405	0.002	T	0.55579	-0.8119	10	0.24483	T	0.36	-17.0025	19.9421	0.97168	0.0:1.0:0.0:0.0	.	313	P48736	PK3CG_HUMAN	L	313	ENSP00000392258:P313L;ENSP00000419260:P313L;ENSP00000352121:P313L	ENSP00000352121:P313L	P	+	2	0	PIK3CG	106296180	1.000000	0.71417	0.967000	0.41034	0.035000	0.12851	6.044000	0.71012	2.714000	0.92807	0.561000	0.74099	CCG		0.587	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1	0			7:106508944
TNXB	7148	broad.mit.edu	37	6	32038177	32038177	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:32038177C>T	ENST00000375244.3	-	14	5206	c.5005G>A	c.(5005-5007)Gcc>Acc	p.A1669T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T			P22105	TENX_HUMAN	tenascin XB	1751	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGGGCTGGCGTCACCTCGG	0.607																																						ENST00000375244.3		NA																	0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5005-5007)Gcc>Acc		tenascin XB							14.0	15.0	15.0					6																	32038177		1915	4096	6011	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32038177C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5005G>A	6.37:g.32038177C>T	ENSP00000364393:p.Ala1669Thr	False	False		Somatic	0				TNXB_ENST00000375247.2_Missense_Mutation_p.A1669T	p.A1669T			WXS	Illumina HiSeq	Phase_I	P22105	TENX_HUMAN			14	5206	-			1751			Fibronectin type-III 9.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5005G>A		.	.	.	.	.	.	.	.	.	.	C	9.618	1.133059	0.21041	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.55760	0.66;0.5	4.87	0.759	0.18438	.	0.363230	0.20233	N	0.096454	T	0.08714	0.0216	N	0.17379	0.485	0.09310	N	1	P	0.37352	0.591	B	0.28385	0.089	T	0.28106	-1.0054	10	0.11182	T	0.66	.	4.8372	0.13471	0.1514:0.5711:0.0:0.2775	.	1669	P22105-3	.	T	1669	ENSP00000364393:A1669T;ENSP00000364396:A1669T	ENSP00000364393:A1669T	A	-	1	0	TNXB	32146155	0.028000	0.19301	0.707000	0.30419	0.942000	0.58702	-0.065000	0.11617	0.459000	0.27016	0.609000	0.83330	GCC		0.607	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	0	NM_019105		6:32038177
NFRKB	4798	broad.mit.edu	37	11	129735831	129735831	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:129735831C>T	ENST00000446488.3	-	24	3682	c.3579G>A	c.(3577-3579)caG>caA	p.Q1193Q	NFRKB_ENST00000524746.1_Silent_p.Q1193Q|NFRKB_ENST00000304521.5_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1193					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		CCTTCATTGGCTGGCTGATCA	0.498																																						ENST00000446488.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(3577-3579)caG>caA		nuclear factor related to kappaB binding protein							134.0	114.0	121.0					11																	129735831		2201	4297	6498	SO:0001819	synonymous_variant	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129735831C>T		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.3579G>A	11.37:g.129735831C>T		True	False		Somatic	0				NFRKB_ENST00000304521.5_Silent_p.Q1193Q|NFRKB_ENST00000524794.1_Silent_p.Q1218Q|NFRKB_ENST00000524746.1_Silent_p.Q1193Q	p.Q1193Q	NM_001143835.1	NP_001137307.1	WXS	Illumina HiSeq	Phase_I	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	24	3682	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	1193					Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	37	c.3579G>A	CCDS44770.1																																																																																				0.498	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	0	NM_006165		11:129735831
ZNF561	93134	broad.mit.edu	37	19	9727815	9727815	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:9727815G>C	ENST00000302851.3	-	4	510	c.147C>G	c.(145-147)gaC>gaG	p.D49E	ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.D49E|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000495503.1_5'UTR	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	49	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)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						CTGGGGTGAAGTCCACAGCCA	0.463																																						ENST00000302851.3		NA																	0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						c.(145-147)gaC>gaG		zinc finger protein 561							107.0	94.0	98.0					19																	9727815		692	1591	2283	SO:0001583	missense	93134				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9727815G>C	AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.147C>G	19.37:g.9727815G>C	ENSP00000303915:p.Asp49Glu	False	False		Somatic	0				ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000424629.1_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.D49E	p.D49E	NM_152289.2	NP_689502.2	WXS	Illumina HiSeq	Phase_I	Q8N587	ZN561_HUMAN			4	510	-			49			KRAB.		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	ENST00000302851.3	37	c.147C>G	CCDS12216.2	.	.	.	.	.	.	.	.	.	.	G	0.191	-1.053706	0.01965	.	.	ENSG00000171469	ENST00000302851;ENST00000326044;ENST00000444611;ENST00000421525	T;T;T;T	0.01981	4.52;4.52;4.52;4.52	1.72	-0.904	0.10530	Krueppel-associated box (4);	.	.	.	.	T	0.01353	0.0044	N	0.11845	0.185	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.46775	-0.9167	9	0.40728	T	0.16	.	3.7681	0.08630	0.0:0.2736:0.4482:0.2782	.	49	Q8N587	ZN561_HUMAN	E	49;49;55;49	ENSP00000303915:D49E;ENSP00000370284:D49E;ENSP00000392013:D55E;ENSP00000397599:D49E	ENSP00000303915:D49E	D	-	3	2	ZNF561	9588815	0.012000	0.17670	0.026000	0.17262	0.299000	0.27559	-1.203000	0.03019	-0.143000	0.11334	-0.834000	0.03071	GAC		0.463	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347272.2	0	NM_152289		19:9727815
SLC30A1	7779	broad.mit.edu	37	1	211751575	211751575	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr1:211751575T>A	ENST00000367001.4	-	1	509	c.380A>T	c.(379-381)aAc>aTc	p.N127I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	127					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		CCCCAGCACGTTGACCAGCAG	0.701																																						ENST00000367001.4		NA																	0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11						c.(379-381)aAc>aTc		solute carrier family 30 (zinc transporter), member 1							16.0	19.0	18.0					1																	211751575		2195	4297	6492	SO:0001583	missense	7779				cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity	g.chr1:211751575T>A	AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.380A>T	1.37:g.211751575T>A	ENSP00000355968:p.Asn127Ile	False	False		Somatic	0					p.N127I	NM_021194.2	NP_067017.2	WXS	Illumina HiSeq	Phase_I	Q9Y6M5	ZNT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)	1	509	-			127					Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	c.380A>T	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	T	34	5.391452	0.95988	.	.	ENSG00000170385	ENST00000367001	T	0.69685	-0.42	4.13	4.13	0.48395	.	0.048025	0.85682	D	0.000000	D	0.88043	0.6331	H	0.98646	4.29	0.80722	D	1	D	0.69078	0.997	D	0.77557	0.99	D	0.92163	0.5737	10	0.87932	D	0	-13.1623	13.3232	0.60444	0.0:0.0:0.0:1.0	.	127	Q9Y6M5	ZNT1_HUMAN	I	127	ENSP00000355968:N127I	ENSP00000355968:N127I	N	-	2	0	SLC30A1	209818198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.134000	0.77268	1.742000	0.51746	0.374000	0.22700	AAC		0.701	SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2	0			1:211751575
COL22A1	169044	broad.mit.edu	37	8	139629165	139629165	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr8:139629165C>T	ENST00000303045.6	-	54	4308	c.3862G>A	c.(3862-3864)Ggt>Agt	p.G1288S	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1288	Collagen-like 12.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACCCGGGGACCGGGTGCACCA	0.587										HNSCC(7;0.00092)																												ENST00000303045.6		NA																	0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3862-3864)Ggt>Agt		collagen, type XXII, alpha 1							67.0	69.0	68.0					8																	139629165		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139629165C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3862G>A	8.37:g.139629165C>T	ENSP00000303153:p.Gly1288Ser	True	False	HNSCC(7;0.00092)	Somatic	0				COL22A1_ENST00000435777.1_Missense_Mutation_p.G1268S|COL22A1_ENST00000341807.4_5'UTR	p.G1288S	NM_152888.1	NP_690848.1	WXS	Illumina HiSeq	Phase_I	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		54	4308	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1288			Collagen-like 12.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3862G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252523	0.39797	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99329	-5.75;-5.75	4.35	4.35	0.52113	.	0.281024	0.24791	N	0.035575	D	0.99704	0.9887	H	0.99634	4.67	0.48236	D	0.999613	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97160	0.9837	10	0.87932	D	0	.	12.6914	0.56976	0.0:1.0:0.0:0.0	.	1268;1288	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	S	1288;1268;981	ENSP00000303153:G1288S;ENSP00000387655:G1268S	ENSP00000303153:G1288S	G	-	1	0	COL22A1	139698347	0.997000	0.39634	0.990000	0.47175	0.154000	0.21943	3.554000	0.53720	2.709000	0.92574	0.555000	0.69702	GGT		0.587	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	0	XM_291257		8:139629165
QARS	5859	broad.mit.edu	37	3	49136038	49136038	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:49136038C>A	ENST00000306125.6	-	20	2288	c.1951G>T	c.(1951-1953)Gtc>Ttc	p.V651F	QARS_ENST00000414533.1_Missense_Mutation_p.V640F|QARS_ENST00000470225.1_5'Flank			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	651					brain development (GO:0007420)|gene expression (GO:0010467)|glutaminyl-tRNA aminoacylation (GO:0006425)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|glutamine-tRNA ligase activity (GO:0004819)			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CTCACCTTGACAACATGCTGC	0.572																																						ENST00000306125.6		NA																	0				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19						c.(1951-1953)Gtc>Ttc		glutaminyl-tRNA synthetase	L-Glutamine(DB00130)						30.0	30.0	30.0					3																	49136038		2203	4300	6503	SO:0001583	missense	5859				glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding	g.chr3:49136038C>A	X76013	CCDS2788.1, CCDS63633.1	3p21.31	2011-07-01			ENSG00000172053	ENSG00000172053	6.1.1.18	"""Aminoacyl tRNA synthetases / Class I"""	9751	protein-coding gene	gene with protein product	"""glutamine tRNA ligase"""	603727				8078941, 10393422	Standard	NM_005051		Approved		uc003cvx.4	P47897	OTTHUMG00000156774	ENST00000306125.6:c.1951G>T	3.37:g.49136038C>A	ENSP00000307567:p.Val651Phe	False	False		Somatic	0				QARS_ENST00000414533.1_Missense_Mutation_p.V640F	p.V651F			WXS	Illumina HiSeq	Phase_I	P47897	SYQ_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	20	2288	-			651					B4DWJ2	Missense_Mutation	SNP	ENST00000306125.6	37	c.1951G>T	CCDS2788.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470300	0.43942	.	.	ENSG00000172053	ENST00000453392;ENST00000306125;ENST00000414533	T;T	0.24151	1.87;1.87	5.9	-0.927	0.10451	Ribosomal protein L25/Gln-tRNA synthetase, anti-codon-binding domain (1);Ribosomal protein L25/Gln-tRNA synthetase, beta-barrel domain (1);Glutamyl/glutaminyl-tRNA synthetase, class Ib, anti-codon binding domain (1);	0.277142	0.39407	N	0.001378	T	0.39200	0.1069	M	0.89785	3.06	0.80722	D	1	B;B	0.30033	0.266;0.266	B;B	0.42882	0.401;0.401	T	0.26121	-1.0112	10	0.52906	T	0.07	-11.7339	6.1598	0.20358	0.0:0.3728:0.1329:0.4943	.	640;651	B4DWJ2;P47897	.;SYQ_HUMAN	F	171;651;640	ENSP00000307567:V651F;ENSP00000390015:V640F	ENSP00000307567:V651F	V	-	1	0	QARS	49111042	1.000000	0.71417	0.173000	0.22940	0.943000	0.58893	0.624000	0.24462	-0.084000	0.12595	-0.254000	0.11334	GTC		0.572	QARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345689.2	0	NM_005051		3:49136038
COL5A1	1289	broad.mit.edu	37	9	137653805	137653805	+	Missense_Mutation	SNP	C	C	T	rs149912828	byFrequency	TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:137653805C>T	ENST00000371817.3	+	19	2384	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	657	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)		CCAGGACCTCCGGGAGACGAT	0.597																																						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.(1969-1971)cCg>cTg		collagen, type V, alpha 1			LEU/PRO	0,4404		0,0,2202	109.0	100.0	103.0		1970	4.5	0.6	9	dbSNP_134	103	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL5A1	NM_000093.3	98	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	657/1839	137653805	1,13003	2202	4300	6502	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.chr9:137653805C>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.1970C>T	9.37:g.137653805C>T	ENSP00000360882:p.Pro657Leu	True	False		Somatic	0					p.P657L	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)	19	2384	+		Myeloproliferative disorder(178;0.0341)	657			Triple-helical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1970C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	c	9.891	1.204150	0.22205	0.0	1.16E-4	ENSG00000130635	ENST00000371817	D	0.96685	-4.09	4.53	4.53	0.55603	.	0.152829	0.44688	U	0.000431	D	0.97835	0.9289	M	0.82823	2.61	0.51233	D	0.99991	D	0.89917	1.0	D	0.74023	0.982	D	0.98448	1.0590	10	0.87932	D	0	.	12.7642	0.57383	0.0:1.0:0.0:0.0	.	657	P20908	CO5A1_HUMAN	L	657	ENSP00000360882:P657L	ENSP00000360882:P657L	P	+	2	0	COL5A1	136793626	0.972000	0.33761	0.573000	0.28510	0.014000	0.08584	5.210000	0.65214	2.067000	0.61834	0.556000	0.70494	CCG		0.597	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	0	NM_000093		9:137653805
SLC18A2	6571	broad.mit.edu	37	10	119029974	119029974	+	Splice_Site	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:119029974G>T	ENST00000298472.5	+	15	1583	c.1440G>T	c.(1438-1440)atG>atT	p.M480I	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	480					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	AAGAAAAAATGGTAAGAAAAA	0.363																																						ENST00000298472.5		NA																	0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29						c.(1438-1440)atG>atT		solute carrier family 18 (vesicular monoamine transporter), member 2	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						82.0	80.0	81.0					10																	119029974		2203	4300	6503	SO:0001630	splice_region_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119029974G>T	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1440+1G>T	10.37:g.119029974G>T		False	False		Somatic	0				SLC18A2_ENST00000497497.1_3'UTR	p.M480I	NM_003054.4	NP_003045.2	WXS	Illumina HiSeq	Phase_I	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	15	1583	+		Colorectal(252;0.19)	480					B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Splice_Site	SNP	ENST00000298472.5	37	c.1440G>T	CCDS7599.1	.	.	.	.	.	.	.	.	.	.	G	13.15	2.150787	0.37923	.	.	ENSG00000165646	ENST00000298472	T	0.03524	3.9	5.77	5.77	0.91146	.	0.041993	0.85682	D	0.000000	T	0.04227	0.0117	N	0.17723	0.515	0.54753	D	0.99998	B	0.02656	0.0	B	0.06405	0.002	T	0.53683	-0.8404	10	0.36615	T	0.2	-29.9914	19.9818	0.97329	0.0:0.0:1.0:0.0	.	480	Q05940	VMAT2_HUMAN	I	480	ENSP00000298472:M480I	ENSP00000298472:M480I	M	+	3	0	SLC18A2	119019964	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.576000	0.60915	2.717000	0.92951	0.462000	0.41574	ATG		0.363	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	0	NM_003054	Missense_Mutation	10:119029974
ALDH16A1	126133	broad.mit.edu	37	19	49971707	49971707	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:49971707G>T	ENST00000293350.4	+	15	2171	c.2008G>T	c.(2008-2010)Gac>Tac	p.D670Y	ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	670						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		GGTGTGTCCGGACGAGTGGCC	0.697																																						ENST00000293350.4		NA																	0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20						c.(2008-2010)Gac>Tac		aldehyde dehydrogenase 16 family, member A1							135.0	143.0	140.0					19																	49971707		2203	4299	6502	SO:0001583	missense	126133						oxidoreductase activity|protein binding	g.chr19:49971707G>T	AY007096	CCDS12766.1, CCDS46141.1	19q13.33	2014-08-12			ENSG00000161618	ENSG00000161618		"""Aldehyde dehydrogenases"""	28114	protein-coding gene	gene with protein product		613358					Standard	NM_153329		Approved	MGC10204	uc002pnt.3	Q8IZ83	OTTHUMG00000183163	ENST00000293350.4:c.2008G>T	19.37:g.49971707G>T	ENSP00000293350:p.Asp670Tyr	False	False		Somatic	0				ALDH16A1_ENST00000540132.1_Missense_Mutation_p.D507Y|CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.D505Y|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.D619Y	p.D670Y	NM_153329.3	NP_699160.2	WXS	Illumina HiSeq	Phase_I	Q8IZ83	A16A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)	15	2171	+		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)	670					B4DLQ1|C9JBH6|Q86YF0|Q8IYL4|Q8TEI8	Missense_Mutation	SNP	ENST00000293350.4	37	c.2008G>T	CCDS12766.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324210	0.41197	.	.	ENSG00000161618	ENST00000293350;ENST00000455361;ENST00000540132;ENST00000433981	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	4.89	4.89	0.63831	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.101073	0.64402	D	0.000004	D	0.83912	0.5357	M	0.68593	2.085	0.35738	D	0.818491	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.81914	0.959;0.967;0.995	D	0.88296	0.2946	10	0.62326	D	0.03	-6.9053	13.9554	0.64144	0.0:0.0:1.0:0.0	.	507;619;670	F5H4B6;B4DLQ1;Q8IZ83	.;.;A16A1_HUMAN	Y	670;619;507;505	ENSP00000293350:D670Y;ENSP00000410142:D619Y;ENSP00000445088:D507Y;ENSP00000398675:D505Y	ENSP00000293350:D670Y	D	+	1	0	ALDH16A1	54663519	0.965000	0.33210	0.523000	0.27875	0.062000	0.15995	2.375000	0.44283	2.426000	0.82243	0.485000	0.47835	GAC		0.697	ALDH16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465358.1	0	NM_153329		19:49971707
ABCB1	5243	broad.mit.edu	37	7	87195527	87195527	+	Silent	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:87195527A>G	ENST00000265724.3	-	8	978	c.561T>C	c.(559-561)ggT>ggC	p.G187G	ABCB1_ENST00000543898.1_Silent_p.G123G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	187	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAATTTTGTCACCAATTCCTT	0.363																																						ENST00000265724.3		NA																	0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(559-561)ggT>ggC		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						144.0	134.0	137.0					7																	87195527		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87195527A>G	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.561T>C	7.37:g.87195527A>G		False	False		Somatic	0				ABCB1_ENST00000543898.1_Silent_p.G123G	p.G187G	NM_000927.4	NP_000918.2	WXS	Illumina HiSeq	Phase_I	P08183	MDR1_HUMAN			8	978	-	Esophageal squamous(14;0.00164)		187			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.561T>C	CCDS5608.1																																																																																				0.363	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	0	NM_000927		7:87195527
INSR	3643	broad.mit.edu	37	19	7117089	7117089	+	Missense_Mutation	SNP	A	A	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:7117089A>C	ENST00000302850.5	-	22	4269	c.4127T>G	c.(4126-4128)tTg>tGg	p.L1376W	INSR_ENST00000341500.5_Missense_Mutation_p.L1364W	NM_000208.2	NP_000199.2	P06213	INSR_HUMAN	insulin receptor	1376					activation of MAPK activity (GO:0000187)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|carbohydrate metabolic process (GO:0005975)|cellular response to growth factor stimulus (GO:0071363)|cellular response to insulin stimulus (GO:0032869)|epidermis development (GO:0008544)|exocrine pancreas development (GO:0031017)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|insulin receptor signaling pathway (GO:0008286)|male sex determination (GO:0030238)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of developmental growth (GO:0048639)|positive regulation of DNA replication (GO:0045740)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of respiratory burst (GO:0060267)|protein autophosphorylation (GO:0046777)|protein heterotetramerization (GO:0051290)|regulation of embryonic development (GO:0045995)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction by phosphorylation (GO:0023014)|transformation of host cell by virus (GO:0019087)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|insulin receptor complex (GO:0005899)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|insulin binding (GO:0043559)|insulin receptor substrate binding (GO:0043560)|insulin-activated receptor activity (GO:0005009)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor II binding (GO:0031995)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|PTB domain binding (GO:0051425)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					"""""""Insulin(DB00071)|""""Insulin(DB08914)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	GGACCGAGGCAAGGTCAGAAT	0.567																																						ENST00000341500.5		NA																	0				breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66						c.(4090-4092)tTg>tGg		insulin receptor	Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						126.0	109.0	115.0					19																	7117089		2203	4300	6503	SO:0001583	missense	0				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	g.chr19:7117089A>C	M10051	CCDS12176.1, CCDS42487.1	19p13.3-p13.2	2013-02-11				ENSG00000171105		"""CD molecules"", ""Fibronectin type III domain containing"""	6091	protein-coding gene	gene with protein product		147670				2983222	Standard	NM_000208		Approved	CD220	uc002mgd.1	P06213		ENST00000302850.5:c.4127T>G	19.37:g.7117089A>C	ENSP00000303830:p.Leu1376Trp	False	False		Somatic	0				INSR_ENST00000302850.5_Missense_Mutation_p.L1376W	p.L1364W	NM_001079817.1	NP_001073285.1	WXS	Illumina HiSeq	Phase_I	P06213	INSR_HUMAN			21	4130	-			1376			PIK3R1-binding.		Q17RW0|Q59H98|Q9UCB7|Q9UCB8|Q9UCB9	Missense_Mutation	SNP	ENST00000302850.5	37	c.4091T>G	CCDS12176.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320919	0.60634	.	.	ENSG00000171105	ENST00000302850;ENST00000341500	T;T	0.79940	-1.32;-1.32	4.9	4.9	0.64082	.	0.205339	0.23828	N	0.044170	D	0.90058	0.6895	M	0.86651	2.83	0.44562	D	0.997526	D;D	0.89917	1.0;0.999	D;D	0.80764	0.994;0.986	D	0.91501	0.5219	10	0.87932	D	0	.	12.5167	0.56036	1.0:0.0:0.0:0.0	.	1364;1376	P06213-2;P06213	.;INSR_HUMAN	W	1376;1364	ENSP00000303830:L1376W;ENSP00000342838:L1364W	ENSP00000303830:L1376W	L	-	2	0	INSR	7068089	1.000000	0.71417	0.947000	0.38551	0.478000	0.33099	6.780000	0.75063	2.057000	0.61298	0.460000	0.39030	TTG		0.567	INSR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458544.1	0			19:7117089
HMMR	3161	broad.mit.edu	37	5	162901193	162901193	+	Silent	SNP	A	A	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:162901193A>T	ENST00000358715.3	+	10	1068	c.1032A>T	c.(1030-1032)tcA>tcT	p.S344S	HMMR_ENST00000393915.4_Silent_p.S345S|HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000432118.2_Silent_p.S258S			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	344					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAATTGATTCACTTCTGCAAC	0.303																																						ENST00000393915.4		NA																	0				cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23						c.(1033-1035)tcA>tcT		hyaluronan-mediated motility receptor (RHAMM)							72.0	72.0	72.0					5																	162901193		2202	4299	6501	SO:0001819	synonymous_variant	3161					cell surface|cytoplasm	hyaluronic acid binding	g.chr5:162901193A>T	U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1032A>T	5.37:g.162901193A>T		False	False		Somatic	0				HMMR_ENST00000353866.3_Silent_p.S329S|HMMR_ENST00000358715.3_Silent_p.S344S|HMMR_ENST00000432118.2_Silent_p.S258S	p.S345S	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	WXS	Illumina HiSeq	Phase_I	O75330	HMMR_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	10	1178	+	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	344					A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	ENST00000358715.3	37	c.1035A>T	CCDS4362.1																																																																																				0.303	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252752.1	0	NM_012484		5:162901193
FOXG1	2290	broad.mit.edu	37	14	29237195	29237195	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:29237195A>G	ENST00000313071.4	+	1	909	c.710A>G	c.(709-711)aAg>aGg	p.K237R	RP11-966I7.1_ENST00000546560.1_RNA|RP11-966I7.1_ENST00000549487.1_RNA|RP11-966I7.1_ENST00000551395.1_RNA|FOXG1_ENST00000382535.3_Missense_Mutation_p.K237R	NM_005249.4	NP_005240.3	P55316	FOXG1_HUMAN	forkhead box G1	237				K -> M (in Ref. 5; AAH50072). {ECO:0000305}.	aging (GO:0007568)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|dorsal/ventral pattern formation (GO:0009953)|inner ear morphogenesis (GO:0042472)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron fate determination (GO:0048664)|positive regulation of cell cycle (GO:0045787)|positive regulation of neuroblast proliferation (GO:0002052)|pyramidal neuron migration (GO:0021852)|regulation of mitotic cell cycle (GO:0007346)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		TCCCTCAACAAGTGCTTCGTG	0.587																																						ENST00000382535.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43						c.(709-711)aAg>aGg		forkhead box G1							48.0	48.0	48.0					14																	29237195		2203	4300	6503	SO:0001583	missense	2290				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr14:29237195A>G		CCDS9636.1	14q11-q13	2007-10-05	2007-05-16	2007-05-16	ENSG00000176165	ENSG00000176165		"""Forkhead boxes"""	3811	protein-coding gene	gene with protein product		164874	"""forkhead box G1B"", ""forkhead box G1C"", ""forkhead box G1A"""	FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1A		7959731, 17260156	Standard	NM_005249		Approved	HFK2, QIN, BF1, HFK1, HFK3, HBF-3	uc001wqe.4	P55316	OTTHUMG00000140187	ENST00000313071.4:c.710A>G	14.37:g.29237195A>G	ENSP00000339004:p.Lys237Arg	False	False		Somatic	0				FOXG1_ENST00000313071.4_Missense_Mutation_p.K237R	p.K237R			WXS	Illumina HiSeq	Phase_I	P55316	FOXG1_HUMAN	LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)	2	1079	+			237	K -> M (in Ref. 5; AAH50072).				A6NFY2|P55315|Q14488|Q86XT7	Missense_Mutation	SNP	ENST00000313071.4	37	c.710A>G	CCDS9636.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.561743	0.86335	.	.	ENSG00000176165	ENST00000382535;ENST00000313071	D;D	0.96073	-3.9;-3.9	4.01	4.01	0.46588	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	0.000000	0.85682	U	0.000000	D	0.96664	0.8911	L	0.59912	1.85	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.96908	0.9665	10	0.87932	D	0	.	12.6221	0.56610	1.0:0.0:0.0:0.0	.	237	P55316	FOXG1_HUMAN	R	237	ENSP00000371975:K237R;ENSP00000339004:K237R	ENSP00000339004:K237R	K	+	2	0	FOXG1	28306946	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.184000	0.94893	1.446000	0.47643	0.254000	0.18369	AAG		0.587	FOXG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276559.3	0			14:29237195
CIC	23152	broad.mit.edu	37	19	42797190	42797190	+	Silent	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:42797190C>A	ENST00000575354.2	+	15	3592	c.3552C>A	c.(3550-3552)atC>atA	p.I1184I	CIC_ENST00000572681.2_Silent_p.I2091I|CIC_ENST00000160740.3_Silent_p.I1182I	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1184	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCAGCCATCGCCAGCATTC	0.662			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2		NA		Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(6271-6273)atC>atA		capicua transcriptional repressor							20.0	23.0	22.0					19																	42797190		2178	4244	6422	SO:0001819	synonymous_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42797190C>A	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.3552C>A	19.37:g.42797190C>A		False	False		Somatic	0				CIC_ENST00000575354.2_Silent_p.I1184I|CIC_ENST00000160740.3_Silent_p.I1182I	p.I2091I			WXS	Illumina HiSeq	Phase_I	Q96RK0	CIC_HUMAN			16	6341	+		Prostate(69;0.00682)	1184					Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	ENST00000575354.2	37	c.6273C>A	CCDS12601.1																																																																																				0.662	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2	0			19:42797190
ANXA7	310	broad.mit.edu	37	10	75156930	75156930	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr10:75156930G>A	ENST00000372921.5	-	4	418	c.362C>T	c.(361-363)cCa>cTa	p.P121L	ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7	121	Repeat-rich region.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ACCAGGTAGTGGAACCTGTGC	0.453																																						ENST00000372921.5		NA																	0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(361-363)cCa>cTa		annexin A7							61.0	52.0	55.0					10																	75156930		2203	4300	6503	SO:0001583	missense	310						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding	g.chr10:75156930G>A	J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.362C>T	10.37:g.75156930G>A	ENSP00000362012:p.Pro121Leu	False	False		Somatic	0				ANXA7_ENST00000492380.1_5'UTR|ANXA7_ENST00000535178.1_Intron	p.P121L	NM_001156.3	NP_001147.1	WXS	Illumina HiSeq	Phase_I	P20073	ANXA7_HUMAN			4	418	-	Prostate(51;0.0119)		NA			Repeat-rich region.		Q5F2H3|Q5T0M6|Q5T0M7	Missense_Mutation	SNP	ENST00000372921.5	37	c.362C>T	CCDS7325.1	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641575	0.47153	.	.	ENSG00000138279	ENST00000372921;ENST00000372919;ENST00000394847	T;T	0.02606	4.23;4.4	5.48	4.46	0.54185	.	1.044460	0.07552	N	0.915625	T	0.08582	0.0213	L	0.32530	0.975	0.80722	D	1	D;D;P	0.69078	0.975;0.997;0.935	P;P;P	0.61397	0.575;0.888;0.476	T	0.29305	-1.0016	10	0.49607	T	0.09	.	12.7479	0.57291	0.0:0.0:0.801:0.199	.	48;121;121	B4DWU2;P20073-2;P20073	.;.;ANXA7_HUMAN	L	121	ENSP00000362012:P121L;ENSP00000362010:P121L	ENSP00000362010:P121L	P	-	2	0	ANXA7	74826936	1.000000	0.71417	0.968000	0.41197	0.052000	0.14988	2.523000	0.45580	2.736000	0.93811	0.555000	0.69702	CCA		0.453	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048646.2	0	NM_001156		10:75156930
FLRT2	23768	broad.mit.edu	37	14	86089365	86089365	+	Missense_Mutation	SNP	G	G	A	rs149005998		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:86089365G>A	ENST00000330753.4	+	2	2274	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	503	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TAACTACCGCGCGGTAGAAGA	0.537																																						ENST00000330753.4		NA																	0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73						c.(1507-1509)Gcg>Acg		fibronectin leucine rich transmembrane protein 2		G	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	131.0	119.0	123.0		1507	5.1	0.3	14	dbSNP_134	123	2,8598	2.2+/-6.3	0,2,4298	no	missense	FLRT2	NM_013231.4	58	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	benign	503/661	86089365	4,13002	2203	4300	6503	SO:0001583	missense	23768				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	g.chr14:86089365G>A	AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1507G>A	14.37:g.86089365G>A	ENSP00000332879:p.Ala503Thr	True	False		Somatic	0				FLRT2_ENST00000554746.1_Missense_Mutation_p.A503T	p.A503T	NM_013231.4	NP_037363.1	WXS	Illumina HiSeq	Phase_I	O43155	FLRT2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0319)	2	2274	+			503			Fibronectin type-III.		A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	c.1507G>A	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	G	2.547	-0.304874	0.05495	4.54E-4	2.33E-4	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.55930	0.49;0.49	6.17	5.07	0.68467	Fibronectin, type III (1);	0.164767	0.56097	N	0.000039	T	0.39091	0.1065	L	0.38175	1.15	0.31348	N	0.682867	B	0.09022	0.002	B	0.04013	0.001	T	0.39375	-0.9617	10	0.13853	T	0.58	-6.2272	10.3338	0.43837	0.1995:0.0:0.8005:0.0	.	503	O43155	FLRT2_HUMAN	T	503;503;156	ENSP00000332879:A503T;ENSP00000451050:A503T	ENSP00000332879:A503T	A	+	1	0	FLRT2	85159118	1.000000	0.71417	0.302000	0.25058	0.145000	0.21501	4.224000	0.58593	1.277000	0.44412	0.655000	0.94253	GCG		0.537	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1	0			14:86089365
FUS	2521	broad.mit.edu	37	16	31200485	31200485	+	Silent	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:31200485C>T	ENST00000254108.7	+	9	979	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	FUS_ENST00000568685.1_Silent_p.L293L|FUS_ENST00000380244.3_Silent_p.L291L|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	FUS RNA binding protein	292	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTGCAAGGCCTGGGTGAGAA	0.388			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""																																	ENST00000254108.7		NA		Dom	yes		16	16p11.2	2521	T	"""fusion, derived from t(12;16) malignant liposarcoma"""			"""M, L"""	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""		"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	0				breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22						c.(874-876)Ctg>Ttg		fused in sarcoma							287.0	260.0	269.0					16																	31200485		2197	4300	6497	SO:0001819	synonymous_variant	2521				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr16:31200485C>T	AF071213	CCDS10707.1, CCDS58454.1	16p11.2	2014-09-17	2014-05-09		ENSG00000089280	ENSG00000089280		"""RNA binding motif (RRM) containing"""	4010	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein P2"", ""translocated in liposarcoma"""	137070	"""fusion, derived from t(12;16) malignant liposarcoma"", ""amyotrophic lateral sclerosis 6"", ""fusion (involved in t(12;16) in malignant liposarcoma)"", ""fused in sarcoma"""	ALS6		2372777, 7503811, 19251628, 19251627	Standard	NM_004960		Approved	TLS, FUS1, hnRNP-P2, HNRNPP2	uc002ebe.2	P35637	OTTHUMG00000132395	ENST00000254108.7:c.874C>T	16.37:g.31200485C>T		False	False		Somatic	0				FUS_ENST00000380244.3_Silent_p.L291L|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_Silent_p.L293L	p.L292L	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	WXS	Illumina HiSeq	Phase_I	P35637	FUS_HUMAN		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)	9	979	+		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)	292			RRM.		Q9H4A8	Silent	SNP	ENST00000254108.7	37	c.874C>T	CCDS10707.1																																																																																				0.388	FUS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255526.2	0	NM_004960		16:31200485
SBF2	81846	broad.mit.edu	37	11	9853827	9853827	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr11:9853827C>T	ENST00000256190.8	-	27	3733	c.3596G>A	c.(3595-3597)gGa>gAa	p.G1199E		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1199	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CCCATGGAATCCTCCAGATCG	0.483																																						ENST00000256190.8		NA																	0				breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(3595-3597)gGa>gAa		SET binding factor 2							98.0	93.0	95.0					11																	9853827		2201	4294	6495	SO:0001583	missense	81846				myelination	cytoplasm|membrane	phosphatase activity|protein binding	g.chr11:9853827C>T	AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.3596G>A	11.37:g.9853827C>T	ENSP00000256190:p.Gly1199Glu	False	False		Somatic	0					p.G1199E	NM_030962.3	NP_112224.1	WXS	Illumina HiSeq	Phase_I	Q86WG5	MTMRD_HUMAN		all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)	27	3733	-			1199			Myotubularin phosphatase.		Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	ENST00000256190.8	37	c.3596G>A	CCDS31427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.181681|5.181681	0.94885|0.94885	.|.	.|.	ENSG00000133812|ENSG00000133812	ENST00000530741|ENST00000256190	.|D	.|0.92545	.|-3.06	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Myotubularin phosphatase domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95787|0.95787	0.8629|0.8629	M|M	0.66506|0.66506	2.035|2.035	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.81914	.|0.995	D|D	0.95369|0.95369	0.8462|0.8462	5|10	.|0.66056	.|D	.|0.02	.|.	20.3242|20.3242	0.98691|0.98691	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1199	.|Q86WG5	.|MTMRD_HUMAN	N|E	83|1199	.|ENSP00000256190:G1199E	.|ENSP00000256190:G1199E	D|G	-|-	1|2	0|0	SBF2|SBF2	9810403|9810403	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.764000|7.764000	0.85297|0.85297	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAT|GGA		0.483	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	0	NM_030962		11:9853827
DAB2	1601	broad.mit.edu	37	5	39383071	39383071	+	Silent	SNP	C	C	T	rs199558080		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:39383071C>T	ENST00000320816.6	-	10	1457	c.990G>A	c.(988-990)ccG>ccA	p.P330P	DAB2_ENST00000509337.1_Silent_p.P309P|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	330	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CATTACTCAGCGGAGTAGACG	0.483													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19568	0.0		0.0	False		,,,				2504	0.0					ENST00000320816.6		NA																	0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47						c.(988-990)ccG>ccA		Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)		C		1,4405	2.1+/-5.4	0,1,2202	94.0	98.0	96.0		990	-4.7	1.0	5		96	0,8600		0,0,4300	no	coding-synonymous	DAB2	NM_001343.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		330/771	39383071	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1601				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	g.chr5:39383071C>T	U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.990G>A	5.37:g.39383071C>T		False	False		Somatic	0				DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Silent_p.P309P|DAB2_ENST00000509337.1_Silent_p.P309P	p.P330P	NM_001343.3	NP_001334.2	WXS	Illumina HiSeq	Phase_I	P98082	DAB2_HUMAN	Epithelial(62;0.137)		10	1457	-	all_lung(31;0.000197)		330					A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	ENST00000320816.6	37	c.990G>A	CCDS34149.1																																																																																				0.483	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367014.1	0	NM_001343		5:39383071
GPR98	84059	broad.mit.edu	37	5	89971103	89971103	+	Silent	SNP	C	C	T	rs371138490		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr5:89971103C>T	ENST00000405460.2	+	24	5250	c.5154C>T	c.(5152-5154)gaC>gaT	p.D1718D	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1718	Calx-beta 12. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCCTAAGGACGCAATGACCC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16840	0.0		0.0	False		,,,				2504	0.0					ENST00000405460.2		NA																	0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.(5152-5154)gaC>gaT		G protein-coupled receptor 98		C		4,4166		0,4,2081	62.0	65.0	64.0		5154	-4.0	0.0	5		64	0,8434		0,0,4217	no	coding-synonymous	GPR98	NM_032119.3		0,4,6298	TT,TC,CC		0.0,0.0959,0.0317		1718/6307	89971103	4,12600	2085	4217	6302	SO:0001819	synonymous_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89971103C>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.5154C>T	5.37:g.89971103C>T		False	False		Somatic	0				GPR98_ENST00000450321.2_3'UTR	p.D1718D	NM_032119.3	NP_115495.3	WXS	Illumina HiSeq	Phase_I	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	24	5250	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	1718					O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	c.5154C>T	CCDS47246.1																																																																																				0.527	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	0	NM_032119		5:89971103
LYZL4	131375	broad.mit.edu	37	3	42448399	42448399	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr3:42448399C>A	ENST00000287748.3	-	3	506	c.231G>T	c.(229-231)caG>caT	p.Q77H	LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	77					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)|nucleus (GO:0005634)	lysozyme activity (GO:0003796)			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TGCCACGCATCTGAAAGAGGC	0.577																																						ENST00000287748.3		NA																	0				central_nervous_system(1)|endometrium(1)|lung(1)	3						c.(229-231)caG>caT		lysozyme-like 4							98.0	83.0	88.0					3																	42448399		2203	4300	6503	SO:0001583	missense	131375				cell wall macromolecule catabolic process	extracellular region	lysozyme activity	g.chr3:42448399C>A	BC016747, AF326749	CCDS2697.1	3p21.33	2006-04-12			ENSG00000157093	ENSG00000157093			28387	protein-coding gene	gene with protein product		612750				12477932	Standard	NM_144634		Approved	MGC26768, LYC4	uc003cle.3	Q96KX0	OTTHUMG00000131793	ENST00000287748.3:c.231G>T	3.37:g.42448399C>A	ENSP00000287748:p.Gln77His	False	False		Somatic	0				LYZL4_ENST00000470991.1_5'UTR|LYZL4_ENST00000441172.1_Missense_Mutation_p.Q77H	p.Q77H	NM_144634.2	NP_653235.1	WXS	Illumina HiSeq	Phase_I	Q96KX0	LYZL4_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.222)	3	506	-			77						Missense_Mutation	SNP	ENST00000287748.3	37	c.231G>T	CCDS2697.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.334712	0.41297	.	.	ENSG00000157093	ENST00000287748;ENST00000441172	T;T	0.78481	-1.18;-1.18	4.31	3.42	0.39159	Lysozyme-like domain (1);	0.000000	0.64402	D	0.000002	D	0.89543	0.6745	H	0.95780	3.72	0.37506	D	0.916944	D	0.89917	1.0	D	0.91635	0.999	D	0.91121	0.4930	10	0.87932	D	0	-19.1719	7.4537	0.27252	0.0:0.8802:0.0:0.1198	.	77	Q96KX0	LYZL4_HUMAN	H	77	ENSP00000287748:Q77H;ENSP00000387897:Q77H	ENSP00000287748:Q77H	Q	-	3	2	LYZL4	42423403	1.000000	0.71417	0.999000	0.59377	0.253000	0.25986	1.310000	0.33551	2.105000	0.64084	0.563000	0.77884	CAG		0.577	LYZL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254729.2	0	NM_144634		3:42448399
ZNF99	7652	broad.mit.edu	37	19	22940448	22940448	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:22940448G>T	ENST00000596209.1	-	4	2353	c.2263C>A	c.(2263-2265)Cat>Aat	p.H755N	ZNF99_ENST00000397104.3_Missense_Mutation_p.H664N|CTC-451A6.4_ENST00000442497.2_lincRNA	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	755					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H664D(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCTGCAGTATGAATTACCTTA	0.353																																						ENST00000397104.3		NA																	1	Substitution - Missense(1)	p.H664D(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1990-1992)Cat>Aat		zinc finger protein 99							26.0	27.0	27.0					19																	22940448		1904	4049	5953	SO:0001583	missense	7652							g.chr19:22940448G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2263C>A	19.37:g.22940448G>T	ENSP00000472969:p.His755Asn	False	False		Somatic	0				ZNF99_ENST00000596209.1_Missense_Mutation_p.H755N	p.H664N			WXS	Illumina HiSeq	Phase_I					5	1989	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)	NA					M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1990C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	g	12.79	2.043291	0.36085	.	.	ENSG00000213973	ENST00000397104	T	0.28895	1.59	0.726	0.726	0.18248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.62109	0.2401	H	0.94542	3.55	0.24997	N	0.991498	D	0.89917	1.0	D	0.97110	1.0	T	0.50608	-0.8808	9	0.87932	D	0	.	8.9692	0.35897	0.0:0.0:1.0:0.0	.	664	A8MXY4	ZNF99_HUMAN	N	664	ENSP00000380293:H664N	ENSP00000380293:H664N	H	-	1	0	ZNF99	22732288	0.998000	0.40836	0.006000	0.13384	0.035000	0.12851	4.228000	0.58619	0.680000	0.31366	0.400000	0.26472	CAT		0.353	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	0	XM_065124		19:22940448
BCL11B	64919	broad.mit.edu	37	14	99640770	99640770	+	Silent	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr14:99640770G>A	ENST00000357195.3	-	4	2412	c.2403C>T	c.(2401-2403)tgC>tgT	p.C801C	BCL11B_ENST00000345514.2_Silent_p.C730C|BCL11B_ENST00000443726.2_Silent_p.C607C	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	801					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ACACCTTGCCGCAGTACTCGC	0.721			T	TLX3	T-ALL																																	ENST00000345514.2		NA		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(2188-2190)tgC>tgT		B-cell CLL/lymphoma 11B (zinc finger protein)							30.0	26.0	27.0					14																	99640770		2202	4298	6500	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99640770G>A	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.2403C>T	14.37:g.99640770G>A		False	False		Somatic	0				BCL11B_ENST00000443726.2_Silent_p.C607C|BCL11B_ENST00000357195.3_Silent_p.C801C	p.C730C	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	WXS	Illumina HiSeq	Phase_I	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	2456	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	801					Q9H162	Silent	SNP	ENST00000357195.3	37	c.2190C>T	CCDS9950.1																																																																																				0.721	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	0	NM_138576		14:99640770
CNTD2	79935	broad.mit.edu	37	19	40729348	40729348	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr19:40729348C>A	ENST00000430325.2	-	4	667	c.619G>T	c.(619-621)Ggc>Tgc	p.G207C	CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	207					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						AGCAGCGGGCCGGGGTGGTGC	0.726																																						ENST00000430325.2		NA																	0				lung(1)|prostate(1)	2						c.(619-621)Ggc>Tgc		cyclin N-terminal domain containing 2							5.0	9.0	8.0					19																	40729348		671	1554	2225	SO:0001583	missense	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40729348C>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.619G>T	19.37:g.40729348C>A	ENSP00000396755:p.Gly207Cys	True	False		Somatic	0				CNTD2_ENST00000513948.1_Missense_Mutation_p.G101C	p.G207C	NM_024877.3	NP_079153.2	WXS	Illumina HiSeq	Phase_I	B4DX65	B4DX65_HUMAN			4	667	-			207					B4DX65	Missense_Mutation	SNP	ENST00000430325.2	37	c.619G>T	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101787	0.37048	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.30981	1.51;1.52	4.02	4.02	0.46733	.	.	.	.	.	T	0.40570	0.1122	N	0.24115	0.695	0.26488	N	0.974985	D	0.89917	1.0	D	0.75020	0.985	T	0.22452	-1.0216	9	0.54805	T	0.06	.	13.1598	0.59538	0.0:1.0:0.0:0.0	.	207	B4DX65	.	C	207;101	ENSP00000396755:G207C;ENSP00000425529:G101C	ENSP00000396755:G207C	G	-	1	0	CNTD2	45421188	0.020000	0.18652	0.109000	0.21407	0.116000	0.19942	1.586000	0.36611	2.078000	0.62432	0.561000	0.74099	GGC		0.726	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	0	NM_024877		19:40729348
SUGT1	10910	broad.mit.edu	37	13	53254258	53254258	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr13:53254258G>C	ENST00000343788.6	+	13	1046	c.964G>C	c.(964-966)Gat>Cat	p.D322H	SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H|SUGT1_ENST00000310528.8_Missense_Mutation_p.D290H	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	322	SGS. {ECO:0000255|PROSITE- ProRule:PRU00386}.				innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		AGATGGTTCTGATGAAGTGAA	0.313																																						ENST00000310528.8		NA																	0				kidney(3)|large_intestine(3)|lung(2)	8						c.(868-870)Gat>Cat		SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)							98.0	105.0	103.0					13																	53254258		2203	4300	6503	SO:0001583	missense	10910				mitosis	kinetochore|ubiquitin ligase complex	binding	g.chr13:53254258G>C	AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.964G>C	13.37:g.53254258G>C	ENSP00000367208:p.Asp322His	False	False		Somatic	0				SUGT1_ENST00000535397.1_Missense_Mutation_p.D234H|SUGT1_ENST00000343788.6_Missense_Mutation_p.D322H	p.D290H			WXS	Illumina HiSeq	Phase_I	Q9Y2Z0	SUGT1_HUMAN		GBM - Glioblastoma multiforme(99;3.25e-08)	12	923	+		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	NA			SGS.		A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Missense_Mutation	SNP	ENST00000343788.6	37	c.868G>C	CCDS45050.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.903552	0.72754	.	.	ENSG00000165416	ENST00000343788;ENST00000535397;ENST00000310528	T;T	0.31769	1.48;1.53	5.22	4.38	0.52667	SGS (2);HSP20-like chaperone (1);	0.000000	0.85682	D	0.000000	T	0.63141	0.2486	M	0.91196	3.185	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;0.999;0.998	T	0.72818	-0.4178	10	0.72032	D	0.01	-21.0837	14.094	0.65008	0.0731:0.0:0.9269:0.0	.	234;234;322;290	F5H5A9;B4DYC6;Q9Y2Z0;Q9Y2Z0-2	.;.;SUGT1_HUMAN;.	H	322;234;290	ENSP00000367208:D322H;ENSP00000308067:D290H	ENSP00000308067:D290H	D	+	1	0	SUGT1	52152259	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.420000	0.97426	1.329000	0.45376	0.467000	0.42956	GAT		0.313	SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2	0			13:53254258
PDE10A	10846	broad.mit.edu	37	6	165809905	165809905	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr6:165809905G>A	ENST00000366882.1	-	15	1446	c.1292C>T	c.(1291-1293)aCg>aTg	p.T431M	PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	431					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)	p.T431M(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CTTTTCCATCGTTACCCGGTA	0.393																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1		NA																	1	Substitution - Missense(1)	p.T431M(1)	large_intestine(1)	breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1291-1293)aCg>aTg		phosphodiesterase 10A	Dipyridamole(DB00975)						190.0	159.0	170.0					6																	165809905		2203	4300	6503	SO:0001583	missense	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165809905G>A	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1292C>T	6.37:g.165809905G>A	ENSP00000355847:p.Thr431Met	False	False		Somatic	0				PDE10A_ENST00000539869.2_Missense_Mutation_p.T441M|PDE10A_ENST00000354448.4_Missense_Mutation_p.T431M	p.T431M			WXS	Illumina HiSeq	Phase_I	Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	15	1446	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	431					Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37	c.1292C>T		.	.	.	.	.	.	.	.	.	.	G	22.0	4.233162	0.79688	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69806	-0.43;-0.43	5.34	5.34	0.76211	.	1.162770	0.06098	N	0.664795	T	0.79981	0.4540	M	0.68593	2.085	0.80722	D	1	D;D	0.89917	1.0;0.997	D;P	0.80764	0.994;0.882	T	0.71823	-0.4476	10	0.52906	T	0.07	.	19.0469	0.93025	0.0:0.0:1.0:0.0	.	441;431	Q9ULW9;Q9Y233	.;PDE10_HUMAN	M	431;459;441;431;430	ENSP00000355847:T431M;ENSP00000346435:T431M	ENSP00000341187:T441M	T	-	2	0	PDE10A	165729895	1.000000	0.71417	0.148000	0.22405	0.607000	0.37147	9.409000	0.97331	2.508000	0.84585	0.650000	0.86243	ACG		0.393	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1	0			6:165809905
ZMIZ2	83637	broad.mit.edu	37	7	44801069	44801069	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:44801069T>G	ENST00000309315.4	+	10	1385	c.1262T>G	c.(1261-1263)tTg>tGg	p.L421W	ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	421					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGTGACGAGTTGCGGCTGACC	0.637																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4		NA																	0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1261-1263)tTg>tGg		zinc finger, MIZ-type containing 2							48.0	58.0	55.0					7																	44801069		2202	4299	6501	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44801069T>G	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.1262T>G	7.37:g.44801069T>G	ENSP00000311778:p.Leu421Trp	False	False		Somatic	0				ZMIZ2_ENST00000441627.1_Missense_Mutation_p.L421W|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.L389W|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.L395W|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.L363W	p.L421W	NM_031449.3	NP_113637.3	WXS	Illumina HiSeq	Phase_I	Q8NF64	ZMIZ2_HUMAN			10	1385	+			421					A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.1262T>G	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744049	0.89663	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	4.91	4.91	0.64330	.	0.000000	0.46145	D	0.000305	T	0.66436	0.2789	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.70245	-0.4925	10	0.72032	D	0.01	-8.1827	14.3763	0.66879	0.0:0.0:0.0:1.0	.	395;421;363	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	W	363;421;421;389;395;421	ENSP00000409648:L363W;ENSP00000311778:L421W;ENSP00000414723:L421W;ENSP00000396601:L389W;ENSP00000265346:L395W	ENSP00000265346:L395W	L	+	2	0	ZMIZ2	44767594	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	7.408000	0.80041	2.060000	0.61445	0.533000	0.62120	TTG		0.637	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	0	NM_031449		7:44801069
CDK14	5218	broad.mit.edu	37	7	90356126	90356126	+	Splice_Site	SNP	G	G	C	rs55722725		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr7:90356126G>C	ENST00000380050.3	+	3	500	c.369G>C	c.(367-369)tcG>tcC	p.S123S	CDK14_ENST00000265741.3_Splice_Site_p.S105S|CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000406263.1_Splice_Site_p.S77S			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	123					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						GCCCCAGCTCGGTAAGTGCAG	0.463																																					GBM(83;1228 1256 8311 16577 31299)	ENST00000406263.1		NA																	0				breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						c.(229-231)tcG>tcC		cyclin-dependent kinase 14							64.0	61.0	62.0					7																	90356126		2203	4299	6502	SO:0001630	splice_region_variant	5218				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	g.chr7:90356126G>C		CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.369+1G>C	7.37:g.90356126G>C		False	False		Somatic	0				CDK14_ENST00000436577.2_Splice_Site_p.R26P|CDK14_ENST00000380050.3_Splice_Site_p.S123S|CDK14_ENST00000265741.3_Splice_Site_p.S105S	p.S77S			WXS	Illumina HiSeq	Phase_I	O94921	CDK14_HUMAN			2	673	+			123					A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Splice_Site	SNP	ENST00000380050.3	37	c.231G>C		.	.	.	.	.	.	.	.	.	.	G	14.74	2.624665	0.46840	.	.	ENSG00000058091	ENST00000436577	T	0.46451	0.87	5.51	4.6	0.57074	.	.	.	.	.	T	0.38585	0.1046	.	.	.	0.19775	N	0.999956	P	0.43287	0.802	B	0.39465	0.3	T	0.38415	-0.9662	8	0.87932	D	0	-2.8377	14.3863	0.66947	0.0:0.0:0.7431:0.2569	.	26	E7EUK8	.	P	26	ENSP00000398936:R26P	ENSP00000398936:R26P	R	+	2	0	CDK14	90194062	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.836000	0.39191	2.588000	0.87417	0.563000	0.77884	CGG		0.463	CDK14-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000059970.5	0	NM_012395	Silent	7:90356126
LMX1B	4010	broad.mit.edu	37	9	129455511	129455511	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:129455511G>A	ENST00000373474.4	+	4	657	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q|LMX1B_ENST00000355497.5_Missense_Mutation_p.R217Q|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	217					cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AAGGACCCGCGGAGGCCCAAG	0.652									Nail-Patella Syndrome																												Pancreas(110;1796 2278 18357 20466)	ENST00000355497.5		NA																	0				endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						c.(649-651)cGg>cAg		LIM homeobox transcription factor 1, beta							37.0	39.0	39.0					9																	129455511		2202	4300	6502	SO:0001583	missense	4010	Nail-Patella Syndrome	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:129455511G>A	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.650G>A	9.37:g.129455511G>A	ENSP00000362573:p.Arg217Gln	False	False		Somatic	0				LMX1B_ENST00000526117.1_Missense_Mutation_p.R217Q|LMX1B_ENST00000373474.4_Missense_Mutation_p.R217Q|LMX1B_ENST00000561065.1_Missense_Mutation_p.R194Q|LMX1B_ENST00000425646.2_Missense_Mutation_p.R194Q	p.R217Q	NM_001174146.1	NP_001167617.1	WXS	Illumina HiSeq	Phase_I	O60663	LMX1B_HUMAN			4	657	+			194					F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	c.650G>A	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989886	0.93106	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	T;T;D;T	0.95853	-1.08;-1.08;-3.83;-1.08	4.97	4.97	0.65823	Homeodomain-related (1);Homeobox (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	L	0.51422	1.61	0.80722	D	1	P;P;D	0.55800	0.8;0.88;0.973	B;B;B	0.44108	0.206;0.164;0.441	D	0.91782	0.5436	10	0.10636	T	0.68	.	17.2153	0.86941	0.0:0.0:1.0:0.0	.	194;194;217	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	Q	217;217;217;194	ENSP00000436930:R217Q;ENSP00000362573:R217Q;ENSP00000347684:R217Q;ENSP00000390923:R194Q	ENSP00000347684:R217Q	R	+	2	0	LMX1B	128495332	1.000000	0.71417	0.882000	0.34594	0.936000	0.57629	6.381000	0.73163	2.299000	0.77371	0.462000	0.41574	CGG		0.652	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054123.2	0			9:129455511
CWH43	80157	broad.mit.edu	37	4	49019292	49019292	+	Silent	SNP	T	T	C			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr4:49019292T>C	ENST00000226432.4	+	9	1396	c.1213T>C	c.(1213-1215)Ttg>Ctg	p.L405L	CWH43_ENST00000513409.1_Silent_p.L378L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	405					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGGTGTGGGATTGTTGGGATT	0.308																																						ENST00000226432.4		NA																	0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(1213-1215)Ttg>Ctg		cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)							99.0	101.0	100.0					4																	49019292		2203	4300	6503	SO:0001819	synonymous_variant	80157				GPI anchor biosynthetic process	integral to membrane		g.chr4:49019292T>C		CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.1213T>C	4.37:g.49019292T>C		False	False		Somatic	0				CWH43_ENST00000513409.1_Silent_p.L378L	p.L405L	NM_025087.2	NP_079363.2	WXS	Illumina HiSeq	Phase_I	Q9H720	PG2IP_HUMAN			9	1396	+			405					B2RPD7	Silent	SNP	ENST00000226432.4	37	c.1213T>C	CCDS3486.1																																																																																				0.308	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250496.2	0	NM_025087		4:49019292
ARMCX1	51309	broad.mit.edu	37	X	100808322	100808322	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chrX:100808322A>G	ENST00000372829.3	+	4	780	c.409A>G	c.(409-411)Acc>Gcc	p.T137A		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	137						integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGGGAACAGGACCCTTGCACC	0.612																																						ENST00000372829.3		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						c.(409-411)Acc>Gcc		armadillo repeat containing, X-linked 1							74.0	68.0	70.0					X																	100808322		2203	4300	6503	SO:0001583	missense	51309					integral to membrane	binding	g.chrX:100808322A>G	AB039670	CCDS14487.1	Xq21.33-q22.2	2014-03-21			ENSG00000126947	ENSG00000126947		"""Armadillo repeat containing"""	18073	protein-coding gene	gene with protein product		300362				11162520, 16221301, 22569362	Standard	NM_016608		Approved	ALEX1, GASP7	uc004ehv.3	Q9P291	OTTHUMG00000022033	ENST00000372829.3:c.409A>G	X.37:g.100808322A>G	ENSP00000361917:p.Thr137Ala	True	False		Somatic	0					p.T137A	NM_016608.1	NP_057692.1	WXS	Illumina HiSeq	Phase_I	Q9P291	ARMX1_HUMAN			4	780	+			137					Q53HK2|Q9H2Q0	Missense_Mutation	SNP	ENST00000372829.3	37	c.409A>G	CCDS14487.1	.	.	.	.	.	.	.	.	.	.	a	9.041	0.989764	0.18966	.	.	ENSG00000126947	ENST00000372829	T	0.28454	1.61	3.86	1.39	0.22231	.	0.509670	0.16809	N	0.198655	T	0.11153	0.0272	N	0.12182	0.205	0.24652	N	0.993514	B	0.06786	0.001	B	0.04013	0.001	T	0.33523	-0.9865	10	0.02654	T	1	-1.2837	3.4353	0.07444	0.6406:0.2323:0.1271:0.0	.	137	Q9P291	ARMX1_HUMAN	A	137	ENSP00000361917:T137A	ENSP00000361917:T137A	T	+	1	0	ARMCX1	100694978	0.868000	0.29978	0.977000	0.42913	0.890000	0.51754	0.859000	0.27858	0.166000	0.19597	0.451000	0.29950	ACC		0.612	ARMCX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057561.1	0	NM_016608		X:100808322
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	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.chr9:21971120G>A	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.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	True	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*	p.R80*	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)	2	508	-		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)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21971120
GPRC5B	51704	broad.mit.edu	37	16	19883256	19883256	+	Silent	SNP	C	C	T	rs199673129		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:19883256C>T	ENST00000300571.2	-	2	1103	c.912G>A	c.(910-912)acG>acA	p.T304T	GPRC5B_ENST00000569847.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T|GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000569479.1_Silent_p.T304T	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	304					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						AGTAGTTGGGCGTGTTCTCCT	0.637																																						ENST00000300571.2		NA																	0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(910-912)acG>acA		G protein-coupled receptor, family C, group 5, member B							83.0	77.0	79.0					16																	19883256		2197	4300	6497	SO:0001819	synonymous_variant	0							g.chr16:19883256C>T	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.912G>A	16.37:g.19883256C>T		True	False		Somatic	0				GPRC5B_ENST00000535671.1_Silent_p.T304T|GPRC5B_ENST00000569479.1_Silent_p.T304T|GPRC5B_ENST00000537135.1_Silent_p.T330T|GPRC5B_ENST00000569847.1_Silent_p.T304T	p.T304T	NM_016235.1	NP_057319.1	WXS	Illumina HiSeq	Phase_I	Q9NZH0	GPC5B_HUMAN			2	1103	-			304					D2DFB0|O75205|Q8NBZ8	Silent	SNP	ENST00000300571.2	37	c.912G>A	CCDS10581.1																																																																																				0.637	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1	0			16:19883256
CDH11	1009	broad.mit.edu	37	16	64984898	64984898	+	Missense_Mutation	SNP	G	G	A	rs147033764		TCGA-IB-7886-01A-11D-2154-08	TCGA-IB-7886-10A-01D-2154-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	0ae0d66a-f390-4cd4-aa84-f35e8980a52d	f101fa1b-c3a8-40a0-b4ea-812861d7e7c9	g.chr16:64984898G>A	ENST00000268603.4	-	12	2281	c.1666C>T	c.(1666-1668)Cgg>Tgg	p.R556W	CDH11_ENST00000566827.1_Missense_Mutation_p.R430W|CDH11_ENST00000394156.3_Missense_Mutation_p.R556W	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CCTCCACGCCGGGCGTACACG	0.592			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3		NA		Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1666-1668)Cgg>Tgg		cadherin 11, type 2, OB-cadherin (osteoblast)							53.0	52.0	52.0					16																	64984898		2203	4300	6503	SO:0001583	missense	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984898G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1666C>T	16.37:g.64984898G>A	ENSP00000268603:p.Arg556Trp	True	False	TSP Lung(24;0.17)	Somatic	0				CDH11_ENST00000268603.4_Missense_Mutation_p.R556W|CDH11_ENST00000566827.1_Missense_Mutation_p.R430W	p.R556W			WXS	Illumina HiSeq	Phase_I	P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2119	-		Ovarian(137;0.0973)	556			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Missense_Mutation	SNP	ENST00000268603.4	37	c.1666C>T	CCDS10803.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319581	0.60524	.	.	ENSG00000140937	ENST00000268603;ENST00000394156;ENST00000538390	T;T	0.61040	2.08;0.14	5.55	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.421596	0.26193	N	0.025782	T	0.72045	0.3412	M	0.89715	3.055	0.37759	D	0.926242	D;D	0.65815	0.995;0.991	P;P	0.53861	0.736;0.462	T	0.80058	-0.1541	10	0.87932	D	0	.	9.7974	0.40744	0.0:0.1189:0.6897:0.1914	.	556;556	P55287-2;P55287	.;CAD11_HUMAN	W	556;556;539	ENSP00000268603:R556W;ENSP00000377711:R556W	ENSP00000268603:R556W	R	-	1	2	CDH11	63542399	1.000000	0.71417	1.000000	0.80357	0.526000	0.34562	1.290000	0.33319	2.594000	0.87642	0.655000	0.94253	CGG		0.592	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	0	NM_033664		16:64984898
